Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.10784885A>C | CA401920395 | PIEZO2 | c.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 | |
18 | g.10784885A>G | CA502893478 | PIEZO2 | c.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 | |
18 | g.10784885A>T | CA401920396 | PIEZO2 | c.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 | |
18 | g.10784886A>C | CA401920397 | PIEZO2 | c.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 | |
18 | g.10784886A>G | CA401920398 | PIEZO2 | c.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 | |
18 | g.10784886A>T | CA401920399 | PIEZO2 | c.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 | |
18 | g.10784887A>C | CA401920400 | PIEZO2 | c.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 | |
18 | g.10784887A>G | CA401920401 | PIEZO2 | c.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 | |
18 | g.10784887A>T | CA401920402 | PIEZO2 | c.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 | |
18 | g.10784888G>A | CA502893479 | PIEZO2 | c.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 | |
18 | g.10784888G>C | CA502893480 | PIEZO2 | c.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 | |
18 | g.10784888G>T | CA502893481 | PIEZO2 | c.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 | |
18 | g.10784889G>A | CA401920403 | PIEZO2 | c.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 | |
18 | g.10784889G>C | CA401920405 | PIEZO2 | c.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 | |
18 | g.10784889G= | CA2284463218 | PIEZO2 | c.2387C= (p.Ser796=) n.2444C= c.2234C= (p.Ser745=) c.374C= (p.Ser125=) c.2348C= (p.Ser783=) n.3384C= | |
18 | g.10784889G>T | CA401920404 | PIEZO2 | c.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 |
18 | g.10784890A>C | CA401920406 | PIEZO2 | c.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 | |
18 | g.10784890A>G | CA401920407 | PIEZO2 | c.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 | |
18 | g.10784890A>T | CA401920408 | PIEZO2 | c.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 | |
18 | g.10784891G>A | CA502893482 | PIEZO2 | c.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 |
18 | g.10784891G>C | CA502893484 | PIEZO2 | c.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 | |
18 | g.10784891G>T | CA502893483 | PIEZO2 | c.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 | |
18 | g.10784892G>A | CA401920409 | PIEZO2 | c.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 |
18 | g.10784892G>C | CA401920410 | PIEZO2 | c.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 | |
18 | g.10784892G>T | CA401920411 | PIEZO2 | c.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 | |
18 | g.10784893T>A | CA401920412 | PIEZO2 | c.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 | |
18 | g.10784893T>C | CA401920413 | PIEZO2 | c.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 |
18 | g.10784893T>G | CA401920414 | PIEZO2 | c.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 | |
18 | g.10784893T= | CA2284463219 | PIEZO2 | c.2383A= (p.Thr795=) n.2440A= c.2230A= (p.Thr744=) c.370A= (p.Thr124=) c.2344A= (p.Thr782=) n.3380A= | |
18 | g.10784894T>A | CA502893485 | PIEZO2 | c.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 | |
18 | g.10784894T>C | CA502893486 | PIEZO2 | c.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 |
18 | g.10784894T>G | CA502893487 | PIEZO2 | c.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 |
18 | g.10784895G>A | CA401920415 | PIEZO2 | c.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 | |
18 | g.10784895G>C | CA401920416 | PIEZO2 | c.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 | |
18 | g.10784895G>T | CA401920417 | PIEZO2 | c.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 |
18 | g.10784896G>A | CA401920420 | PIEZO2 | c.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 | |
18 | g.10784896G>C | CA401920419 | PIEZO2 | c.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 |
18 | g.10784896G= | CA2284463220 | PIEZO2 | c.2380C= (p.Pro794=) n.2437C= c.2227C= (p.Pro743=) c.367C= (p.Pro123=) c.2341C= (p.Pro781=) n.3377C= | |
18 | g.10784896G>T | CA401920418 | PIEZO2 | c.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 | |
18 | g.10784897G>A | CA502893488 | PIEZO2 | c.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 | |
18 | g.10784897G>C | CA401920421 | PIEZO2 | c.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 | |
18 | g.10784897G>T | CA502893489 | PIEZO2 | c.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 | |
18 | g.10784898A>C | CA401920422 | PIEZO2 | c.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 | |
18 | g.10784898A>G | CA401920423 | PIEZO2 | c.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 | |
18 | g.10784898A>T | CA401920424 | PIEZO2 | c.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 | |
18 | g.10784899T>A | CA401920425 | PIEZO2 | c.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 | |
18 | g.10784899T>C | CA401920426 | PIEZO2 | c.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 |
18 | g.10784899T>G | CA401920427 | PIEZO2 | c.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 | |
18 | g.10784900G>A | CA502893490 | PIEZO2 | c.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 | |
18 | g.10784900G>C | CA401920428 | PIEZO2 | c.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 | |
18 | g.10784900G>T | CA401920429 | PIEZO2 | c.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 | |
18 | g.10784901A>C | CA401920430 | PIEZO2 | c.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 | |
18 | g.10784901A>G | CA401920431 | PIEZO2 | c.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 |
18 | g.10784901A>T | CA401920432 | PIEZO2 | c.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 | |
18 | g.10784902A= | CA2284463221 | PIEZO2 | c.2374T= (p.Phe792=) n.2431T= c.2221T= (p.Phe741=) c.361T= (p.Phe121=) c.2335T= (p.Phe779=) n.3371T= | |
18 | g.10784902A>C | CA401920435 | PIEZO2 | c.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 | |
18 | g.10784902A>G | CA401920434 | PIEZO2 | c.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 | |
18 | g.10784902A>T | CA401920433 | PIEZO2 | c.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 | |
18 | g.10784902_10784903insACACAGACCTC | CA2284463222 | PIEZO2 | c.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 |
18 | g.10784903T>A | CA502893491 | PIEZO2 | c.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 | |
18 | g.10784903T>C | CA401920436 | PIEZO2 | c.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 | |
18 | g.10784903T>G | CA502893492 | PIEZO2 | c.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 | |
18 | g.10784904A>C | CA401920438 | PIEZO2 | c.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 | |
18 | g.10784904A>G | CA401920437 | PIEZO2 | c.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 |
18 | g.10784904A>T | CA401920439 | PIEZO2 | c.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 |
18 | g.10784905T>A | CA401920440 | PIEZO2 | c.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 | |
18 | g.10784905T>C | CA295999853 | PIEZO2 | c.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 |
18 | g.10784905T>G | CA401920441 | PIEZO2 | c.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 | |
18 | g.10784905T= | CA2284463223 | PIEZO2 | c.2371A= (p.Ile791=) n.2428A= c.2218A= (p.Ile740=) c.358A= (p.Ile120=) c.2332A= (p.Ile778=) n.3368A= | |
18 | g.10784906G>A | CA295999857 | PIEZO2 | c.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 |
18 | g.10784906G>C | CA502893493 | PIEZO2 | c.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 | |
18 | g.10784906G= | CA2284463224 | PIEZO2 | c.2370C= (p.Arg790=) n.2427C= c.2217C= (p.Arg739=) c.357C= (p.Arg119=) c.2331C= (p.Arg777=) n.3367C= | |
18 | g.10784906G>T | CA502893494 | PIEZO2 | c.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 | |
18 | g.10784907C>A | CA401920442 | PIEZO2 | c.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 |
18 | g.10784907C= | CA2284463225 | PIEZO2 | c.2369G= (p.Arg790=) n.2426G= c.2216G= (p.Arg739=) c.356G= (p.Arg119=) c.2330G= (p.Arg777=) n.3366G= | |
18 | g.10784907C>G | CA401920443 | PIEZO2 | c.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 | |
18 | g.10784907C>T | CA295999863 | PIEZO2 | c.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 |
18 | g.10784908G>A | CA401920444 | PIEZO2 | c.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 |
18 | g.10784908G>C | CA401920446 | PIEZO2 | c.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 | |
18 | g.10784908G= | CA2284463226 | PIEZO2 | c.2368C= (p.Arg790=) n.2425C= c.2215C= (p.Arg739=) c.355C= (p.Arg119=) c.2329C= (p.Arg777=) n.3365C= | |
18 | g.10784908G>T | CA401920445 | PIEZO2 | c.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 | |
18 | g.10784909A>C | CA502893495 | PIEZO2 | c.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 | |
18 | g.10784909A>G | CA502893496 | PIEZO2 | c.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 | |
18 | g.10784909A>T | CA502893497 | PIEZO2 | c.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 | |
18 | g.10784910G>A | CA401920447 | PIEZO2 | c.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 |
18 | g.10784910G>C | CA401920448 | PIEZO2 | c.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 |
18 | g.10784910G= | CA2284463227 | PIEZO2 | c.2366C= (p.Thr789=) n.2423C= c.2213C= (p.Thr738=) c.353C= (p.Thr118=) c.2327C= (p.Thr776=) n.3363C= | |
18 | g.10784910G>T | CA401920449 | PIEZO2 | c.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 | |
18 | g.10784911T>A | CA401920450 | PIEZO2 | c.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 | |
18 | g.10784911T>C | CA401920451 | PIEZO2 | c.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 | |
18 | g.10784911T>G | CA401920452 | PIEZO2 | c.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 | |
18 | g.10784912G>A | CA502893498 | PIEZO2 | c.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 | |
18 | g.10784912G>C | CA401920453 | PIEZO2 | c.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 | |
18 | g.10784912G>T | CA401920454 | PIEZO2 | c.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 | |
18 | g.10784913A>C | CA401920455 | PIEZO2 | c.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 | |
18 | g.10784913A>G | CA401920456 | PIEZO2 | c.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 | |
18 | g.10784913A>T | CA401920457 | PIEZO2 | c.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 | |
18 | g.10784914A= | CA2284463228 | PIEZO2 | c.2362T= (p.Phe788=) n.2419T= c.2209T= (p.Phe737=) c.349T= (p.Phe117=) c.2323T= (p.Phe775=) n.3359T= | |
18 | g.10784914A>C | CA401920458 | PIEZO2 | c.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 | |
18 | g.10784914A>G | CA8892664 | PIEZO2 | c.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 |
18 | g.10784914A>T | CA401920459 | PIEZO2 | c.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 | |
18 | g.10784915T>A | CA502893499 | PIEZO2 | c.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 | |
18 | g.10784915T>C | CA295999868 | PIEZO2 | c.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 |
18 | g.10784915T>G | CA502893500 | PIEZO2 | c.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 |
18 | g.10784915T= | CA2284463229 | PIEZO2 | c.2361A= (p.Leu787=) n.2418A= c.2208A= (p.Leu736=) c.348A= (p.Leu116=) c.2322A= (p.Leu774=) n.3358A= | |
18 | g.10784916A>C | CA401920460 | PIEZO2 | c.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 |
18 | g.10784916A>G | CA401920461 | PIEZO2 | c.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 | |
18 | g.10784916A>T | CA401920462 | PIEZO2 | c.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 | |
18 | g.10784917G>A | CA502893501 | PIEZO2 | c.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 |
18 | g.10784917G>C | CA401920463 | PIEZO2 | c.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 | |
18 | g.10784917G>T | CA401920464 | PIEZO2 | c.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 | |
18 | g.10784918T>A | CA401920465 | PIEZO2 | c.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 | |
18 | g.10784918T>C | CA502893502 | PIEZO2 | c.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 | |
18 | g.10784918T>G | CA401920466 | PIEZO2 | c.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 | |
18 | g.10784919T>A | CA401920467 | PIEZO2 | c.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 | |
18 | g.10784919T>C | CA401920468 | PIEZO2 | c.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 |
18 | g.10784919T>G | CA401920469 | PIEZO2 | c.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 |
18 | g.10784919T= | CA2284463230 | PIEZO2 | c.2357A= (p.Glu786=) n.2414A= c.2204A= (p.Glu735=) c.344A= (p.Glu115=) c.2318A= (p.Glu773=) n.3354A= | |
18 | g.10784920C>A | CA401920470 | PIEZO2 | c.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 | |
18 | g.10784920C= | CA2284463231 | PIEZO2 | c.2356G= (p.Glu786=) n.2413G= c.2203G= (p.Glu735=) c.343G= (p.Glu115=) c.2317G= (p.Glu773=) n.3353G= | |
18 | g.10784920C>G | CA401920471 | PIEZO2 | c.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 | |
18 | g.10784920C>T | CA401920472 | PIEZO2 | c.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 |
18 | g.10784921A= | CA2284463232 | PIEZO2 | c.2355T= (p.Ala785=) n.2412T= c.2202T= (p.Ala734=) c.342T= (p.Ala114=) c.2316T= (p.Ala772=) n.3352T= | |
18 | g.10784921A>C | CA502893505 | PIEZO2 | c.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 |
18 | g.10784921A>G | CA502893504 | PIEZO2 | c.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 | |
18 | g.10784921A>T | CA502893503 | PIEZO2 | c.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 | |
18 | g.10784922G>A | CA401920473 | PIEZO2 | c.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 |
18 | g.10784922G>C | CA401920475 | PIEZO2 | c.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 | |
18 | g.10784922G= | CA2284463233 | PIEZO2 | c.2354C= (p.Ala785=) n.2411C= c.2201C= (p.Ala734=) c.341C= (p.Ala114=) c.2315C= (p.Ala772=) n.3351C= | |
18 | g.10784922G>T | CA401920474 | PIEZO2 | c.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 | |
18 | g.10784923C>A | CA401920476 | PIEZO2 | c.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 | |
18 | g.10784923C= | CA2284463234 | PIEZO2 | c.2353G= (p.Ala785=) n.2410G= c.2200G= (p.Ala734=) c.340G= (p.Ala114=) c.2314G= (p.Ala772=) n.3350G= | |
18 | g.10784923C>G | CA401920477 | PIEZO2 | c.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 | |
18 | g.10784923C>T | CA401920478 | PIEZO2 | c.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 |
18 | g.10784924C>A | CA502893506 | PIEZO2 | c.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 | |
18 | g.10784924C>G | CA502893507 | PIEZO2 | c.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 | |
18 | g.10784924C>T | CA502893508 | PIEZO2 | c.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 | |
18 | g.10784925A>C | CA401920479 | PIEZO2 | c.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 | |
18 | g.10784925A>G | CA401920480 | PIEZO2 | c.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 | |
18 | g.10784925A>T | CA401920481 | PIEZO2 | c.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 | |
18 | g.10784926C>A | CA401920482 | PIEZO2 | c.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 | |
18 | g.10784926C>G | CA401920483 | PIEZO2 | c.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 | |
18 | g.10784926C>T | CA401920484 | PIEZO2 | c.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 | |
18 | g.10784927A>C | CA502893509 | PIEZO2 | c.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 |
18 | g.10784927A>G | CA502893511 | PIEZO2 | c.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 |
18 | g.10784927A>T | CA502893510 | PIEZO2 | c.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 | |
18 | g.10784928G>A | CA401920485 | PIEZO2 | c.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 |
18 | g.10784928G>C | CA401920486 | PIEZO2 | c.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 | |
18 | g.10784928G>T | CA401920487 | PIEZO2 | c.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 |
18 | g.10784929T>A | CA401920490 | PIEZO2 | c.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 | |
18 | g.10784929T>C | CA401920488 | PIEZO2 | c.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 | |
18 | g.10784929T>G | CA401920489 | PIEZO2 | c.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 | |
18 | g.10784930A>C | CA401920491 | PIEZO2 | c.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 | |
18 | g.10784930A>G | CA502893512 | PIEZO2 | c.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 | |
18 | g.10784930A>T | CA401920492 | PIEZO2 | c.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 | |
18 | g.10784931A>C | CA401920493 | PIEZO2 | c.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 | |
18 | g.10784931A>G | CA401920494 | PIEZO2 | c.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 | |
18 | g.10784931A>T | CA401920495 | PIEZO2 | c.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 | |
18 | g.10784932A= | CA2284463235 | PIEZO2 | c.2344T= (p.Phe782=) n.2401T= c.2191T= (p.Phe731=) c.331T= (p.Phe111=) c.2305T= (p.Phe769=) n.3341T= | |
18 | g.10784932A>C | CA401920496 | PIEZO2 | c.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 | |
18 | g.10784932A>G | CA401920497 | PIEZO2 | c.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 | |
18 | g.10784932A>T | CA401920498 | PIEZO2 | c.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 | |
18 | g.10784932_10784933insGAAGACAACACCAT | CA919929377 | PIEZO2 | c.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 |
18 | g.10784933C>A | CA401920499 | PIEZO2 | c.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 | |
18 | g.10784933C>G | CA401920500 | PIEZO2 | c.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 | |
18 | g.10784933C>T | CA502893513 | PIEZO2 | c.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 | |
18 | g.10784934T>A | CA401920503 | PIEZO2 | c.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 | |
18 | g.10784934T>C | CA401920502 | PIEZO2 | c.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 |
18 | g.10784934T>G | CA401920501 | PIEZO2 | c.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 | |
18 | g.10784934T= | CA2284463236 | PIEZO2 | c.2342A= (p.Gln781=) n.2399A= c.2189A= (p.Gln730=) c.329A= (p.Gln110=) c.2303A= (p.Gln768=) n.3339A= | |
18 | g.10784934_10784935insACA | CA919929379 | PIEZO2 | c.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 |
18 | g.10784935G>A | CA401920504 | PIEZO2 | c.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 | |
18 | g.10784935G>C | CA401920506 | PIEZO2 | c.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 | |
18 | g.10784935G>T | CA401920505 | PIEZO2 | c.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 | |
18 | g.10784936C>A | CA401920507 | PIEZO2 | c.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 | |
18 | g.10784936C= | CA2284463237 | PIEZO2 | c.2340G= (p.Lys780=) n.2397G= c.2187G= (p.Lys729=) c.327G= (p.Lys109=) c.2301G= (p.Lys767=) n.3337G= | |
18 | g.10784936C>G | CA401920508 | PIEZO2 | c.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 | |
18 | g.10784936C>T | CA502893514 | PIEZO2 | c.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 |
18 | g.10784937T>A | CA401920509 | PIEZO2 | c.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 | |
18 | g.10784937T>C | CA401920510 | PIEZO2 | c.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 | |
18 | g.10784937T>G | CA401920511 | PIEZO2 | c.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 | |
18 | g.10784938T>A | CA401920512 | PIEZO2 | c.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 | |
18 | g.10784938T>C | CA401920513 | PIEZO2 | c.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 | |
18 | g.10784938T>G | CA401920514 | PIEZO2 | c.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 | |
18 | g.10784939T>A | CA401920515 | PIEZO2 | c.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 | |
18 | g.10784939T>C | CA502893515 | PIEZO2 | c.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 |
18 | g.10784939T>G | CA401920516 | PIEZO2 | c.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 | |
18 | g.10784940A>C | CA401920519 | PIEZO2 | c.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 | |
18 | g.10784940A>G | CA401920518 | PIEZO2 | c.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 | |
18 | g.10784940A>T | CA401920517 | PIEZO2 | c.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 | |
18 | g.10784941A= | CA2284463238 | PIEZO2 | c.2335T= (p.Leu779=) n.2392T= c.2182T= (p.Leu728=) c.322T= (p.Leu108=) c.2296T= (p.Leu766=) n.3332T= | |
18 | g.10784941A>C | CA401920520 | PIEZO2 | c.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 | |
18 | g.10784941A>G | CA502893516 | PIEZO2 | c.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 |
18 | g.10784941A>T | CA401920521 | PIEZO2 | c.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 | |
18 | g.10784942G>A | CA502893517 | PIEZO2 | c.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 | |
18 | g.10784942G>C | CA502893518 | PIEZO2 | c.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 |
18 | g.10784942G= | CA2284463239 | PIEZO2 | c.2334C= (p.Gly778=) n.2391C= c.2181C= (p.Gly727=) c.321C= (p.Gly107=) c.2295C= (p.Gly765=) n.3331C= | |
18 | g.10784942G>T | CA502893519 | PIEZO2 | c.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 | |
18 | g.10784943C>A | CA401920522 | PIEZO2 | c.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 |
18 | g.10784943C>G | CA401920523 | PIEZO2 | c.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 | |
18 | g.10784943C>T | CA401920524 | PIEZO2 | c.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 |
18 | g.10784944C>A | CA401920525 | PIEZO2 | c.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 | |
18 | g.10784944C>G | CA401920526 | PIEZO2 | c.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 | |
18 | g.10784944C>T | CA401920527 | PIEZO2 | c.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 | |
18 | g.10784945A= | CA2284463240 | PIEZO2 | c.2331T= (p.Leu777=) n.2388T= c.2178T= (p.Leu726=) c.318T= (p.Leu106=) c.2292T= (p.Leu764=) n.3328T= | |
18 | g.10784945A>C | CA502893520 | PIEZO2 | c.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 |
18 | g.10784945A>G | CA502893521 | PIEZO2 | c.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 |
18 | g.10784945A>T | CA502893522 | PIEZO2 | c.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 | |
18 | g.10784946A>C | CA401920528 | PIEZO2 | c.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 | |
18 | g.10784946A>G | CA401920529 | PIEZO2 | c.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 | |
18 | g.10784946A>T | CA401920530 | PIEZO2 | c.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 | |
18 | g.10784947G>A | CA401920532 | PIEZO2 | c.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 | |
18 | g.10784947G>C | CA401920533 | PIEZO2 | c.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 | |
18 | g.10784947G>T | CA401920531 | PIEZO2 | c.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 | |
18 | g.10784948A>C | CA401920534 | PIEZO2 | c.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 | |
18 | g.10784948A>G | CA502893523 | PIEZO2 | c.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 | |
18 | g.10784948A>T | CA401920535 | PIEZO2 | c.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 | |
18 | g.10784949T>A | CA401920536 | PIEZO2 | c.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 | |
18 | g.10784949T>C | CA401920537 | PIEZO2 | c.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 | |
18 | g.10784949T>G | CA401920538 | PIEZO2 | c.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 | |
18 | g.10784950C>A | CA401920539 | PIEZO2 | c.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 | |
18 | g.10784950C>G | CA401920540 | PIEZO2 | c.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 | |
18 | g.10784950C>T | CA401920541 | PIEZO2 | c.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 | |
18 | g.10784951C>A | CA401920542 | PIEZO2 | c.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 | |
18 | g.10784951C= | CA2284463241 | PIEZO2 | c.2325G= (p.Glu775=) n.2382G= c.2172G= (p.Glu724=) c.312G= (p.Glu104=) c.2286G= (p.Glu762=) n.3322G= | |
18 | g.10784951C>G | CA401920543 | PIEZO2 | c.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 | |
18 | g.10784951C>T | CA8892665 | PIEZO2 | c.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 |
18 | g.10784952T>A | CA401920545 | PIEZO2 | c.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 | |
18 | g.10784952T>C | CA401920546 | PIEZO2 | c.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 | |
18 | g.10784952T>G | CA401920544 | PIEZO2 | c.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 | |
18 | g.10784953C>A | CA401920547 | PIEZO2 | c.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 |
18 | g.10784953C= | CA2284463242 | PIEZO2 | c.2323G= (p.Glu775=) n.2380G= c.2170G= (p.Glu724=) c.310G= (p.Glu104=) c.2284G= (p.Glu762=) n.3320G= | |
18 | g.10784953C>G | CA401920548 | PIEZO2 | c.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 | |
18 | g.10784953C>T | CA401920549 | PIEZO2 | c.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 |
18 | g.10784954A>C | CA502893524 | PIEZO2 | c.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 | |
18 | g.10784954A>G | CA502893526 | PIEZO2 | c.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 | |
18 | g.10784954A>T | CA502893525 | PIEZO2 | c.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 | |
18 | g.10784955A>C | CA401920550 | PIEZO2 | c.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 | |
18 | g.10784955A>G | CA401920551 | PIEZO2 | c.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 | |
18 | g.10784955A>T | CA401920552 | PIEZO2 | c.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 | |
18 | g.10784956G>A | CA401920553 | PIEZO2 | c.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 | |
18 | g.10784956G>C | CA401920555 | PIEZO2 | c.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 | |
18 | g.10784956G>T | CA401920554 | PIEZO2 | c.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 |
18 | g.10784957C>A | CA401920556 | PIEZO2 | c.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 | |
18 | g.10784957C= | CA2284463243 | PIEZO2 | c.2319G= (p.Lys773=) n.2376G= c.2166G= (p.Lys722=) c.306G= (p.Lys102=) c.2280G= (p.Lys760=) n.3316G= | |
18 | g.10784957C>G | CA401920557 | PIEZO2 | c.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 |
18 | g.10784957C>T | CA502893527 | PIEZO2 | c.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 | |
18 | g.10784958C>A | CA401920558 | PIEZO2 | c.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 | |
18 | g.10784958C>G | CA401920559 | PIEZO2 | c.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 | |
18 | g.10784958C>T | CA401920560 | PIEZO2 | c.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 |
18 | g.10784959T>A | CA401920561 | PIEZO2 | c.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 | |
18 | g.10784959T>C | CA401920562 | PIEZO2 | c.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 |
18 | g.10784959T>G | CA295999879 | PIEZO2 | c.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 |
18 | g.10784959T= | CA2284463244 | PIEZO2 | c.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= | |
18 | g.10784960G>A | CA2641014353 | PIEZO2 | c.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 |
18 | g.10784961C>A | CA776063275 | PIEZO2 | c.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 |
18 | g.10784961C= | CA2284463245 | PIEZO2 | c.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= | |
18 | g.10784961C>T | CA2284463246 | PIEZO2 | c.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 |
18 | g.10784971_10784975dup | CA2641014354 | PIEZO2 | c.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 |
18 | g.10784965del | CA2641014356 | PIEZO2 | c.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 |
18 | g.10784966C>T | CA2641014357 | PIEZO2 | c.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 |
18 | g.10784966_10784968delinsCAA | CA2284463247 | PIEZO2 | c.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 | |
18 | g.10784970del | CA776063285 | PIEZO2 | c.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 |
18 | g.10784969_10784970del | CA295999882 | PIEZO2 | c.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 |
18 | g.10784968A= | CA2284463248 | PIEZO2 | c.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= | |
18 | g.10784968A>G | CA628486187 | PIEZO2 | c.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 |
18 | g.10784970_10784971insAC | CA2810962561 | PIEZO2 | c.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 | |
18 | g.10784970_10784971insAAAC | CA2810962560 | PIEZO2 | c.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 | |
18 | g.10784971C>A | CA2734593386 | PIEZO2 | c.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 |
18 | g.10784972A= | CA2284463249 | PIEZO2 | c.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= | |
18 | g.10784972A>G | CA628486188 | PIEZO2 | c.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 |
18 | g.10784972_10784973insCCCAAACACACCCAACAC | CA2810962562 | PIEZO2 | c.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 | |
18 | g.10784973A= | CA2284463250 | PIEZO2 | c.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= | |
18 | g.10784973A>C | CA628486189 | PIEZO2 | c.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 |
18 | g.10784973A>G | CA2576456655 | PIEZO2 | c.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 | |
18 | g.10784973A>T | CA2284463251 | PIEZO2 | c.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 |
18 | g.10784975_10784976insCCAAA | CA295999884 | PIEZO2 | c.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 |
18 | g.10784974_10784975insCACACCCAAC | CA2810962563 | PIEZO2 | c.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 | |
18 | g.10784975A>G | CA2641014359 | PIEZO2 | c.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 |
18 | g.10784976T>A | CA2810962565 | PIEZO2 | c.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 | |
18 | g.10784976T>C | CA2810962564 | PIEZO2 | c.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 | |
18 | g.10784977A>G | CA2576456656 | PIEZO2 | c.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 | |
18 | g.10784978A>G | CA2641014360 | PIEZO2 | c.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 |
18 | g.10784979A>G | CA2641014361 | PIEZO2 | c.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 |
18 | g.10784981_10784982insCCAAACACACCCAAC | CA2810962566 | PIEZO2 | c.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 | |
18 | g.10784982G>A | CA776063315 | PIEZO2 | c.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 |
18 | g.10784982G= | CA2284463252 | PIEZO2 | c.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= | |
18 | g.10784983C>A | CA2810962567 | PIEZO2 | c.2319-26G>T (n.2319-26G>T) n.2376-26G>T c.2166-26G>T (n.2166-26G>T) c.306-26G>T (n.306-26G>T) c.2280-26G>T (n.2280-26G>T) n.3316-26G>T | |
18 | g.10784983C>G | CA2641014362 | PIEZO2 | c.2319-26G>C (n.2319-26G>C) n.2376-26G>C c.2166-26G>C (n.2166-26G>C) c.306-26G>C (n.306-26G>C) c.2280-26G>C (n.2280-26G>C) n.3316-26G>C | gnomAD v4 |
18 | g.10784984A>C | CA2641014363 | PIEZO2 | c.2319-27T>G (n.2319-27T>G) n.2376-27T>G c.2166-27T>G (n.2166-27T>G) c.306-27T>G (n.306-27T>G) c.2280-27T>G (n.2280-27T>G) n.3316-27T>G | gnomAD v4 |
18 | g.10784985G>C | CA2810962568 | PIEZO2 | c.2319-28C>G (n.2319-28C>G) n.2376-28C>G c.2166-28C>G (n.2166-28C>G) c.306-28C>G (n.306-28C>G) c.2280-28C>G (n.2280-28C>G) n.3316-28C>G | |
18 | g.10784985G>T | CA2641014364 | PIEZO2 | c.2319-28C>A (n.2319-28C>A) n.2376-28C>A c.2166-28C>A (n.2166-28C>A) c.306-28C>A (n.306-28C>A) c.2280-28C>A (n.2280-28C>A) n.3316-28C>A | gnomAD v4 |