Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.10784764_10784807delCA2641014310PIEZO2c.2471_2492+22del
n.2528_2549+22del
c.2318_2339+22del
c.458_479+22del
c.2432_2453+22del
n.3468_3489+22del
 gnomAD v4
18g.10784783C>ACA401920163PIEZO2c.2492+1G>T (n.2492+1G>T)
n.2549+1G>T
c.2339+1G>T (n.2339+1G>T)
c.479+1G>T (n.479+1G>T)
c.2453+1G>T (n.2453+1G>T)
n.3489+1G>T
18g.10784783C>GCA401920164PIEZO2c.2492+1G>C (n.2492+1G>C)
n.2549+1G>C
c.2339+1G>C (n.2339+1G>C)
c.479+1G>C (n.479+1G>C)
c.2453+1G>C (n.2453+1G>C)
n.3489+1G>C
18g.10784783C>TCA401920165PIEZO2c.2492+1G>A (n.2492+1G>A)
n.2549+1G>A
c.2339+1G>A (n.2339+1G>A)
c.479+1G>A (n.479+1G>A)
c.2453+1G>A (n.2453+1G>A)
n.3489+1G>A
18g.10784784C>ACA401920166PIEZO2c.2492G>T (p.Ser831Ile)
n.2549G>T
c.2492G>T (p.Arg831Ile)
c.2339G>T (p.Arg780Ile)
c.479G>T (p.Arg160Ile)
c.2453G>T (p.Ser818Ile)
n.3489G>T
18g.10784784C=CA2284463179PIEZO2c.2492G= (p.Ser831=)
n.2549G=
c.2492G= (p.Arg831=)
c.2339G= (p.Arg780=)
c.479G= (p.Arg160=)
c.2453G= (p.Ser818=)
n.3489G=
18g.10784784C>GCA401920167PIEZO2c.2492G>C (p.Ser831Thr)
n.2549G>C
c.2492G>C (p.Arg831Thr)
c.2339G>C (p.Arg780Thr)
c.479G>C (p.Arg160Thr)
c.2453G>C (p.Ser818Thr)
n.3489G>C
 dbSNP
18g.10784784C>TCA401920168PIEZO2c.2492G>A (p.Ser831Asn)
n.2549G>A
c.2492G>A (p.Arg831Lys)
c.2339G>A (p.Arg780Lys)
c.479G>A (p.Arg160Lys)
c.2453G>A (p.Ser818Asn)
n.3489G>A
18g.10784785T>ACA401920171PIEZO2c.2491A>T (p.Ser831Cys)
n.2548A>T
c.2491A>T (p.Arg831Ter)
c.2338A>T (p.Arg780Ter)
c.478A>T (p.Arg160Ter)
c.2452A>T (p.Ser818Cys)
n.3488A>T
18g.10784785T>CCA401920169PIEZO2c.2491A>G (p.Ser831Gly)
n.2548A>G
c.2491A>G (p.Arg831Gly)
c.2338A>G (p.Arg780Gly)
c.478A>G (p.Arg160Gly)
c.2452A>G (p.Ser818Gly)
n.3488A>G
 gnomAD v4
18g.10784785T>GCA401920170PIEZO2c.2491A>C (p.Ser831Arg)
n.2548A>C
c.2491A>C (p.Arg831=)
c.2338A>C (p.Arg780=)
c.478A>C (p.Arg160=)
c.2452A>C (p.Ser818Arg)
n.3488A>C
18g.10784786G>ACA502893411PIEZO2c.2490C>T (p.Tyr830=)
n.2547C>T
c.2337C>T (p.Tyr779=)
c.477C>T (p.Tyr159=)
c.2451C>T (p.Tyr817=)
n.3487C>T
 gnomAD v4
18g.10784786G>CCA401920172PIEZO2c.2490C>G (p.Tyr830Ter)
n.2547C>G
c.2337C>G (p.Tyr779Ter)
c.477C>G (p.Tyr159Ter)
c.2451C>G (p.Tyr817Ter)
n.3487C>G
 gnomAD v4
18g.10784786G>TCA401920173PIEZO2c.2490C>A (p.Tyr830Ter)
n.2547C>A
c.2337C>A (p.Tyr779Ter)
c.477C>A (p.Tyr159Ter)
c.2451C>A (p.Tyr817Ter)
n.3487C>A
18g.10784787T>ACA401920174PIEZO2c.2489A>T (p.Tyr830Phe)
n.2546A>T
c.2336A>T (p.Tyr779Phe)
c.476A>T (p.Tyr159Phe)
c.2450A>T (p.Tyr817Phe)
n.3486A>T
18g.10784787T>CCA401920175PIEZO2c.2489A>G (p.Tyr830Cys)
n.2546A>G
c.2336A>G (p.Tyr779Cys)
c.476A>G (p.Tyr159Cys)
c.2450A>G (p.Tyr817Cys)
n.3486A>G
18g.10784787T>GCA401920176PIEZO2c.2489A>C (p.Tyr830Ser)
n.2546A>C
c.2336A>C (p.Tyr779Ser)
c.476A>C (p.Tyr159Ser)
c.2450A>C (p.Tyr817Ser)
n.3486A>C
18g.10784788A>CCA401920177PIEZO2c.2488T>G (p.Tyr830Asp)
n.2545T>G
c.2335T>G (p.Tyr779Asp)
c.475T>G (p.Tyr159Asp)
c.2449T>G (p.Tyr817Asp)
n.3485T>G
18g.10784788A>GCA401920179PIEZO2c.2488T>C (p.Tyr830His)
n.2545T>C
c.2335T>C (p.Tyr779His)
c.475T>C (p.Tyr159His)
c.2449T>C (p.Tyr817His)
n.3485T>C
 gnomAD v4
18g.10784788A>TCA401920178PIEZO2c.2488T>A (p.Tyr830Asn)
n.2545T>A
c.2335T>A (p.Tyr779Asn)
c.475T>A (p.Tyr159Asn)
c.2449T>A (p.Tyr817Asn)
n.3485T>A
18g.10784789G>ACA502893412PIEZO2c.2487C>T (p.Ile829=)
n.2544C>T
c.2334C>T (p.Ile778=)
c.474C>T (p.Ile158=)
c.2448C>T (p.Ile816=)
n.3484C>T
18g.10784789G>CCA401920180PIEZO2c.2487C>G (p.Ile829Met)
n.2544C>G
c.2334C>G (p.Ile778Met)
c.474C>G (p.Ile158Met)
c.2448C>G (p.Ile816Met)
n.3484C>G
18g.10784789G=CA2284463180PIEZO2c.2487C= (p.Ile829=)
n.2544C=
c.2334C= (p.Ile778=)
c.474C= (p.Ile158=)
c.2448C= (p.Ile816=)
n.3484C=
18g.10784789G>TCA295999820PIEZO2c.2487C>A (p.Ile829=)
n.2544C>A
c.2334C>A (p.Ile778=)
c.474C>A (p.Ile158=)
c.2448C>A (p.Ile816=)
n.3484C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.10784790A>CCA401920181PIEZO2c.2486T>G (p.Ile829Ser)
n.2543T>G
c.2333T>G (p.Ile778Ser)
c.473T>G (p.Ile158Ser)
c.2447T>G (p.Ile816Ser)
n.3483T>G
18g.10784790A>GCA401920182PIEZO2c.2486T>C (p.Ile829Thr)
n.2543T>C
c.2333T>C (p.Ile778Thr)
c.473T>C (p.Ile158Thr)
c.2447T>C (p.Ile816Thr)
n.3483T>C
18g.10784790A>TCA401920183PIEZO2c.2486T>A (p.Ile829Asn)
n.2543T>A
c.2333T>A (p.Ile778Asn)
c.473T>A (p.Ile158Asn)
c.2447T>A (p.Ile816Asn)
n.3483T>A
18g.10784791T>ACA401920184PIEZO2c.2485A>T (p.Ile829Phe)
n.2542A>T
c.2332A>T (p.Ile778Phe)
c.472A>T (p.Ile158Phe)
c.2446A>T (p.Ile816Phe)
n.3482A>T
18g.10784791T>CCA401920185PIEZO2c.2485A>G (p.Ile829Val)
n.2542A>G
c.2332A>G (p.Ile778Val)
c.472A>G (p.Ile158Val)
c.2446A>G (p.Ile816Val)
n.3482A>G
18g.10784791T>GCA401920186PIEZO2c.2485A>C (p.Ile829Leu)
n.2542A>C
c.2332A>C (p.Ile778Leu)
c.472A>C (p.Ile158Leu)
c.2446A>C (p.Ile816Leu)
n.3482A>C
18g.10784793_10784795delCA2641014323PIEZO2c.2483_2485del (p.Thr828del)
n.2540_2542del
c.2330_2332del (p.Thr777del)
c.470_472del (p.Thr157del)
c.2444_2446del (p.Thr815del)
n.3480_3482del
 gnomAD v4
18g.10784792G>ACA502893413PIEZO2c.2484C>T (p.Thr828=)
n.2541C>T
c.2331C>T (p.Thr777=)
c.471C>T (p.Thr157=)
c.2445C>T (p.Thr815=)
n.3481C>T
18g.10784792G>CCA502893414PIEZO2c.2484C>G (p.Thr828=)
n.2541C>G
c.2331C>G (p.Thr777=)
c.471C>G (p.Thr157=)
c.2445C>G (p.Thr815=)
n.3481C>G
18g.10784792G>TCA502893415PIEZO2c.2484C>A (p.Thr828=)
n.2541C>A
c.2331C>A (p.Thr777=)
c.471C>A (p.Thr157=)
c.2445C>A (p.Thr815=)
n.3481C>A
18g.10784793G>ACA401920187PIEZO2c.2483C>T (p.Thr828Ile)
n.2540C>T
c.2330C>T (p.Thr777Ile)
c.470C>T (p.Thr157Ile)
c.2444C>T (p.Thr815Ile)
n.3480C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784793G>CCA8892657PIEZO2c.2483C>G (p.Thr828Ser)
n.2540C>G
c.2330C>G (p.Thr777Ser)
c.470C>G (p.Thr157Ser)
c.2444C>G (p.Thr815Ser)
n.3480C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784793G=CA2284463181PIEZO2c.2483C= (p.Thr828=)
n.2540C=
c.2330C= (p.Thr777=)
c.470C= (p.Thr157=)
c.2444C= (p.Thr815=)
n.3480C=
18g.10784793G>TCA401920188PIEZO2c.2483C>A (p.Thr828Asn)
n.2540C>A
c.2330C>A (p.Thr777Asn)
c.470C>A (p.Thr157Asn)
c.2444C>A (p.Thr815Asn)
n.3480C>A
 dbSNP
18g.10784794T>ACA401920189PIEZO2c.2482A>T (p.Thr828Ser)
n.2539A>T
c.2329A>T (p.Thr777Ser)
c.469A>T (p.Thr157Ser)
c.2443A>T (p.Thr815Ser)
n.3479A>T
18g.10784794T>CCA401920191PIEZO2c.2482A>G (p.Thr828Ala)
n.2539A>G
c.2329A>G (p.Thr777Ala)
c.469A>G (p.Thr157Ala)
c.2443A>G (p.Thr815Ala)
n.3479A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784794T>GCA401920190PIEZO2c.2482A>C (p.Thr828Pro)
n.2539A>C
c.2329A>C (p.Thr777Pro)
c.469A>C (p.Thr157Pro)
c.2443A>C (p.Thr815Pro)
n.3479A>C
18g.10784794T=CA2284463182PIEZO2c.2482A= (p.Thr828=)
n.2539A=
c.2329A= (p.Thr777=)
c.469A= (p.Thr157=)
c.2443A= (p.Thr815=)
n.3479A=
18g.10784795G>ACA295999825PIEZO2c.2481C>T (p.Asn827=)
n.2538C>T
c.2328C>T (p.Asn776=)
c.468C>T (p.Asn156=)
c.2442C>T (p.Asn814=)
n.3478C>T
 dbSNP gnomAD v4
18g.10784795G>CCA401920192PIEZO2c.2481C>G (p.Asn827Lys)
n.2538C>G
c.2328C>G (p.Asn776Lys)
c.468C>G (p.Asn156Lys)
c.2442C>G (p.Asn814Lys)
n.3478C>G
18g.10784795G=CA2284463183PIEZO2c.2481C= (p.Asn827=)
n.2538C=
c.2328C= (p.Asn776=)
c.468C= (p.Asn156=)
c.2442C= (p.Asn814=)
n.3478C=
18g.10784795G>TCA401920193PIEZO2c.2481C>A (p.Asn827Lys)
n.2538C>A
c.2328C>A (p.Asn776Lys)
c.468C>A (p.Asn156Lys)
c.2442C>A (p.Asn814Lys)
n.3478C>A
18g.10784796T>ACA401920194PIEZO2c.2480A>T (p.Asn827Ile)
n.2537A>T
c.2327A>T (p.Asn776Ile)
c.467A>T (p.Asn156Ile)
c.2441A>T (p.Asn814Ile)
n.3477A>T
 gnomAD v4
18g.10784796T>CCA8892658PIEZO2c.2480A>G (p.Asn827Ser)
n.2537A>G
c.2327A>G (p.Asn776Ser)
c.467A>G (p.Asn156Ser)
c.2441A>G (p.Asn814Ser)
n.3477A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784796T>GCA401920195PIEZO2c.2480A>C (p.Asn827Thr)
n.2537A>C
c.2327A>C (p.Asn776Thr)
c.467A>C (p.Asn156Thr)
c.2441A>C (p.Asn814Thr)
n.3477A>C
 gnomAD v4
18g.10784796T=CA2284463184PIEZO2c.2480A= (p.Asn827=)
n.2537A=
c.2327A= (p.Asn776=)
c.467A= (p.Asn156=)
c.2441A= (p.Asn814=)
n.3477A=
18g.10784797T>ACA401920196PIEZO2c.2479A>T (p.Asn827Tyr)
n.2536A>T
c.2326A>T (p.Asn776Tyr)
c.466A>T (p.Asn156Tyr)
c.2440A>T (p.Asn814Tyr)
n.3476A>T
18g.10784797T>CCA401920197PIEZO2c.2479A>G (p.Asn827Asp)
n.2536A>G
c.2326A>G (p.Asn776Asp)
c.466A>G (p.Asn156Asp)
c.2440A>G (p.Asn814Asp)
n.3476A>G
18g.10784797T>GCA401920198PIEZO2c.2479A>C (p.Asn827His)
n.2536A>C
c.2326A>C (p.Asn776His)
c.466A>C (p.Asn156His)
c.2440A>C (p.Asn814His)
n.3476A>C
 dbSNP gnomAD v2 gnomAD v4
18g.10784797T=CA2284463185PIEZO2c.2479A= (p.Asn827=)
n.2536A=
c.2326A= (p.Asn776=)
c.466A= (p.Asn156=)
c.2440A= (p.Asn814=)
n.3476A=
18g.10784798G>ACA502893416PIEZO2c.2478C>T (p.Asp826=)
n.2535C>T
c.2325C>T (p.Asp775=)
c.465C>T (p.Asp155=)
c.2439C>T (p.Asp813=)
n.3475C>T
 gnomAD v4
18g.10784798G>CCA401920199PIEZO2c.2478C>G (p.Asp826Glu)
n.2535C>G
c.2325C>G (p.Asp775Glu)
c.465C>G (p.Asp155Glu)
c.2439C>G (p.Asp813Glu)
n.3475C>G
18g.10784798G=CA2284463186PIEZO2c.2478C= (p.Asp826=)
n.2535C=
c.2325C= (p.Asp775=)
c.465C= (p.Asp155=)
c.2439C= (p.Asp813=)
n.3475C=
18g.10784798G>TCA401920200PIEZO2c.2478C>A (p.Asp826Glu)
n.2535C>A
c.2325C>A (p.Asp775Glu)
c.465C>A (p.Asp155Glu)
c.2439C>A (p.Asp813Glu)
n.3475C>A
 dbSNP
18g.10784799T>ACA401920201PIEZO2c.2477A>T (p.Asp826Val)
n.2534A>T
c.2324A>T (p.Asp775Val)
c.464A>T (p.Asp155Val)
c.2438A>T (p.Asp813Val)
n.3474A>T
18g.10784799T>CCA401920202PIEZO2c.2477A>G (p.Asp826Gly)
n.2534A>G
c.2324A>G (p.Asp775Gly)
c.464A>G (p.Asp155Gly)
c.2438A>G (p.Asp813Gly)
n.3474A>G
 gnomAD v4
18g.10784799T>GCA401920203PIEZO2c.2477A>C (p.Asp826Ala)
n.2534A>C
c.2324A>C (p.Asp775Ala)
c.464A>C (p.Asp155Ala)
c.2438A>C (p.Asp813Ala)
n.3474A>C
18g.10784800C>ACA401920204PIEZO2c.2476G>T (p.Asp826Tyr)
n.2533G>T
c.2323G>T (p.Asp775Tyr)
c.463G>T (p.Asp155Tyr)
c.2437G>T (p.Asp813Tyr)
n.3473G>T
18g.10784800C=CA2284463187PIEZO2c.2476G= (p.Asp826=)
n.2533G=
c.2323G= (p.Asp775=)
c.463G= (p.Asp155=)
c.2437G= (p.Asp813=)
n.3473G=
18g.10784800C>GCA401920205PIEZO2c.2476G>C (p.Asp826His)
n.2533G>C
c.2323G>C (p.Asp775His)
c.463G>C (p.Asp155His)
c.2437G>C (p.Asp813His)
n.3473G>C
 dbSNP gnomAD v4 COSMIC COSMIC
18g.10784800C>TCA401920206PIEZO2c.2476G>A (p.Asp826Asn)
n.2533G>A
c.2323G>A (p.Asp775Asn)
c.463G>A (p.Asp155Asn)
c.2437G>A (p.Asp813Asn)
n.3473G>A
18g.10784801T>ACA401920208PIEZO2c.2475A>T (p.Glu825Asp)
n.2532A>T
c.2322A>T (p.Glu774Asp)
c.462A>T (p.Glu154Asp)
c.2436A>T (p.Glu812Asp)
n.3472A>T
18g.10784801T>CCA502893417PIEZO2c.2475A>G (p.Glu825=)
n.2532A>G
c.2322A>G (p.Glu774=)
c.462A>G (p.Glu154=)
c.2436A>G (p.Glu812=)
n.3472A>G
18g.10784801T>GCA401920207PIEZO2c.2475A>C (p.Glu825Asp)
n.2532A>C
c.2322A>C (p.Glu774Asp)
c.462A>C (p.Glu154Asp)
c.2436A>C (p.Glu812Asp)
n.3472A>C
18g.10784802T>ACA401920209PIEZO2c.2474A>T (p.Glu825Val)
n.2531A>T
c.2321A>T (p.Glu774Val)
c.461A>T (p.Glu154Val)
c.2435A>T (p.Glu812Val)
n.3471A>T
18g.10784802T>CCA401920210PIEZO2c.2474A>G (p.Glu825Gly)
n.2531A>G
c.2321A>G (p.Glu774Gly)
c.461A>G (p.Glu154Gly)
c.2435A>G (p.Glu812Gly)
n.3471A>G
18g.10784802T>GCA401920211PIEZO2c.2474A>C (p.Glu825Ala)
n.2531A>C
c.2321A>C (p.Glu774Ala)
c.461A>C (p.Glu154Ala)
c.2435A>C (p.Glu812Ala)
n.3471A>C
18g.10784803C>ACA401920212PIEZO2c.2473G>T (p.Glu825Ter)
n.2530G>T
c.2320G>T (p.Glu774Ter)
c.460G>T (p.Glu154Ter)
c.2434G>T (p.Glu812Ter)
n.3470G>T
18g.10784803C=CA2284463188PIEZO2c.2473G= (p.Glu825=)
n.2530G=
c.2320G= (p.Glu774=)
c.460G= (p.Glu154=)
c.2434G= (p.Glu812=)
n.3470G=
18g.10784803C>GCA401920213PIEZO2c.2473G>C (p.Glu825Gln)
n.2530G>C
c.2320G>C (p.Glu774Gln)
c.460G>C (p.Glu154Gln)
c.2434G>C (p.Glu812Gln)
n.3470G>C
18g.10784803C>TCA401920214PIEZO2c.2473G>A (p.Glu825Lys)
n.2530G>A
c.2320G>A (p.Glu774Lys)
c.460G>A (p.Glu154Lys)
c.2434G>A (p.Glu812Lys)
n.3470G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784804T>ACA401920215PIEZO2c.2472A>T (p.Lys824Asn)
n.2529A>T
c.2319A>T (p.Lys773Asn)
c.459A>T (p.Lys153Asn)
c.2433A>T (p.Lys811Asn)
n.3469A>T
18g.10784804T>CCA502893418PIEZO2c.2472A>G (p.Lys824=)
n.2529A>G
c.2319A>G (p.Lys773=)
c.459A>G (p.Lys153=)
c.2433A>G (p.Lys811=)
n.3469A>G
18g.10784804T>GCA401920216PIEZO2c.2472A>C (p.Lys824Asn)
n.2529A>C
c.2319A>C (p.Lys773Asn)
c.459A>C (p.Lys153Asn)
c.2433A>C (p.Lys811Asn)
n.3469A>C
18g.10784805T>ACA401920217PIEZO2c.2471A>T (p.Lys824Ile)
n.2528A>T
c.2318A>T (p.Lys773Ile)
c.458A>T (p.Lys153Ile)
c.2432A>T (p.Lys811Ile)
n.3468A>T
18g.10784805T>CCA401920218PIEZO2c.2471A>G (p.Lys824Arg)
n.2528A>G
c.2318A>G (p.Lys773Arg)
c.458A>G (p.Lys153Arg)
c.2432A>G (p.Lys811Arg)
n.3468A>G
18g.10784805T>GCA401920219PIEZO2c.2471A>C (p.Lys824Thr)
n.2528A>C
c.2318A>C (p.Lys773Thr)
c.458A>C (p.Lys153Thr)
c.2432A>C (p.Lys811Thr)
n.3468A>C
18g.10784806T>ACA401920221PIEZO2c.2470A>T (p.Lys824Ter)
n.2527A>T
c.2317A>T (p.Lys773Ter)
c.457A>T (p.Lys153Ter)
c.2431A>T (p.Lys811Ter)
n.3467A>T
18g.10784806T>CCA401920222PIEZO2c.2470A>G (p.Lys824Glu)
n.2527A>G
c.2317A>G (p.Lys773Glu)
c.457A>G (p.Lys153Glu)
c.2431A>G (p.Lys811Glu)
n.3467A>G
18g.10784806T>GCA401920220PIEZO2c.2470A>C (p.Lys824Gln)
n.2527A>C
c.2317A>C (p.Lys773Gln)
c.457A>C (p.Lys153Gln)
c.2431A>C (p.Lys811Gln)
n.3467A>C
18g.10784807G>ACA502893419PIEZO2c.2469C>T (p.Ser823=)
n.2526C>T
c.2316C>T (p.Ser772=)
c.456C>T (p.Ser152=)
c.2430C>T (p.Ser810=)
n.3466C>T
18g.10784807G>CCA401920223PIEZO2c.2469C>G (p.Ser823Arg)
n.2526C>G
c.2316C>G (p.Ser772Arg)
c.456C>G (p.Ser152Arg)
c.2430C>G (p.Ser810Arg)
n.3466C>G
18g.10784807G=CA2284463189PIEZO2c.2469C= (p.Ser823=)
n.2526C=
c.2316C= (p.Ser772=)
c.456C= (p.Ser152=)
c.2430C= (p.Ser810=)
n.3466C=
18g.10784807G>TCA401920224PIEZO2c.2469C>A (p.Ser823Arg)
n.2526C>A
c.2316C>A (p.Ser772Arg)
c.456C>A (p.Ser152Arg)
c.2430C>A (p.Ser810Arg)
n.3466C>A
 dbSNP
18g.10784808C>ACA401920225PIEZO2c.2468G>T (p.Ser823Ile)
n.2525G>T
c.2315G>T (p.Ser772Ile)
c.455G>T (p.Ser152Ile)
c.2429G>T (p.Ser810Ile)
n.3465G>T
18g.10784808C=CA2284463190PIEZO2c.2468G= (p.Ser823=)
n.2525G=
c.2315G= (p.Ser772=)
c.455G= (p.Ser152=)
c.2429G= (p.Ser810=)
n.3465G=
18g.10784808C>GCA401920226PIEZO2c.2468G>C (p.Ser823Thr)
n.2525G>C
c.2315G>C (p.Ser772Thr)
c.455G>C (p.Ser152Thr)
c.2429G>C (p.Ser810Thr)
n.3465G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784808C>TCA401920227PIEZO2c.2468G>A (p.Ser823Asn)
n.2525G>A
c.2315G>A (p.Ser772Asn)
c.455G>A (p.Ser152Asn)
c.2429G>A (p.Ser810Asn)
n.3465G>A
 dbSNP
18g.10784809T>ACA401920228PIEZO2c.2467A>T (p.Ser823Cys)
n.2524A>T
c.2314A>T (p.Ser772Cys)
c.454A>T (p.Ser152Cys)
c.2428A>T (p.Ser810Cys)
n.3464A>T
18g.10784809T>CCA401920229PIEZO2c.2467A>G (p.Ser823Gly)
n.2524A>G
c.2314A>G (p.Ser772Gly)
c.454A>G (p.Ser152Gly)
c.2428A>G (p.Ser810Gly)
n.3464A>G
18g.10784809T>GCA401920230PIEZO2c.2467A>C (p.Ser823Arg)
n.2524A>C
c.2314A>C (p.Ser772Arg)
c.454A>C (p.Ser152Arg)
c.2428A>C (p.Ser810Arg)
n.3464A>C
18g.10784810G>ACA502893422PIEZO2c.2466C>T (p.Pro822=)
n.2523C>T
c.2313C>T (p.Pro771=)
c.453C>T (p.Pro151=)
c.2427C>T (p.Pro809=)
n.3463C>T
18g.10784810G>CCA502893421PIEZO2c.2466C>G (p.Pro822=)
n.2523C>G
c.2313C>G (p.Pro771=)
c.453C>G (p.Pro151=)
c.2427C>G (p.Pro809=)
n.3463C>G
18g.10784810G>TCA502893420PIEZO2c.2466C>A (p.Pro822=)
n.2523C>A
c.2313C>A (p.Pro771=)
c.453C>A (p.Pro151=)
c.2427C>A (p.Pro809=)
n.3463C>A
18g.10784811G>ACA401920231PIEZO2c.2465C>T (p.Pro822Leu)
n.2522C>T
c.2312C>T (p.Pro771Leu)
c.452C>T (p.Pro151Leu)
c.2426C>T (p.Pro809Leu)
n.3462C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784811G>CCA401920232PIEZO2c.2465C>G (p.Pro822Arg)
n.2522C>G
c.2312C>G (p.Pro771Arg)
c.452C>G (p.Pro151Arg)
c.2426C>G (p.Pro809Arg)
n.3462C>G
18g.10784811G=CA2284463191PIEZO2c.2465C= (p.Pro822=)
n.2522C=
c.2312C= (p.Pro771=)
c.452C= (p.Pro151=)
c.2426C= (p.Pro809=)
n.3462C=
18g.10784811G>TCA401920233PIEZO2c.2465C>A (p.Pro822His)
n.2522C>A
c.2312C>A (p.Pro771His)
c.452C>A (p.Pro151His)
c.2426C>A (p.Pro809His)
n.3462C>A
18g.10784812G>ACA401920234PIEZO2c.2464C>T (p.Pro822Ser)
n.2521C>T
c.2311C>T (p.Pro771Ser)
c.451C>T (p.Pro151Ser)
c.2425C>T (p.Pro809Ser)
n.3461C>T
18g.10784812G>CCA401920235PIEZO2c.2464C>G (p.Pro822Ala)
n.2521C>G
c.2311C>G (p.Pro771Ala)
c.451C>G (p.Pro151Ala)
c.2425C>G (p.Pro809Ala)
n.3461C>G
18g.10784812G>TCA401920236PIEZO2c.2464C>A (p.Pro822Thr)
n.2521C>A
c.2311C>A (p.Pro771Thr)
c.451C>A (p.Pro151Thr)
c.2425C>A (p.Pro809Thr)
n.3461C>A
18g.10784813A>CCA401920237PIEZO2c.2463T>G (p.Ile821Met)
n.2520T>G
c.2310T>G (p.Ile770Met)
c.450T>G (p.Ile150Met)
c.2424T>G (p.Ile808Met)
n.3460T>G
18g.10784813A>GCA502893425PIEZO2c.2463T>C (p.Ile821=)
n.2520T>C
c.2310T>C (p.Ile770=)
c.450T>C (p.Ile150=)
c.2424T>C (p.Ile808=)
n.3460T>C
18g.10784813A>TCA502893426PIEZO2c.2463T>A (p.Ile821=)
n.2520T>A
c.2310T>A (p.Ile770=)
c.450T>A (p.Ile150=)
c.2424T>A (p.Ile808=)
n.3460T>A
18g.10784814A>CCA401920238PIEZO2c.2462T>G (p.Ile821Ser)
n.2519T>G
c.2309T>G (p.Ile770Ser)
c.449T>G (p.Ile150Ser)
c.2423T>G (p.Ile808Ser)
n.3459T>G
18g.10784814A>GCA401920239PIEZO2c.2462T>C (p.Ile821Thr)
n.2519T>C
c.2309T>C (p.Ile770Thr)
c.449T>C (p.Ile150Thr)
c.2423T>C (p.Ile808Thr)
n.3459T>C
18g.10784814A>TCA401920240PIEZO2c.2462T>A (p.Ile821Asn)
n.2519T>A
c.2309T>A (p.Ile770Asn)
c.449T>A (p.Ile150Asn)
c.2423T>A (p.Ile808Asn)
n.3459T>A
18g.10784815T>ACA401920241PIEZO2c.2461A>T (p.Ile821Phe)
n.2518A>T
c.2308A>T (p.Ile770Phe)
c.448A>T (p.Ile150Phe)
c.2422A>T (p.Ile808Phe)
n.3458A>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784815T>CCA401920242PIEZO2c.2461A>G (p.Ile821Val)
n.2518A>G
c.2308A>G (p.Ile770Val)
c.448A>G (p.Ile150Val)
c.2422A>G (p.Ile808Val)
n.3458A>G
 gnomAD v4
18g.10784815T>GCA401920243PIEZO2c.2461A>C (p.Ile821Leu)
n.2518A>C
c.2308A>C (p.Ile770Leu)
c.448A>C (p.Ile150Leu)
c.2422A>C (p.Ile808Leu)
n.3458A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784815T=CA2284463192PIEZO2c.2461A= (p.Ile821=)
n.2518A=
c.2308A= (p.Ile770=)
c.448A= (p.Ile150=)
c.2422A= (p.Ile808=)
n.3458A=
18g.10784816G>ACA502893427PIEZO2c.2460C>T (p.Ser820=)
n.2517C>T
c.2307C>T (p.Ser769=)
c.447C>T (p.Ser149=)
c.2421C>T (p.Ser807=)
n.3457C>T
18g.10784816G>CCA502893428PIEZO2c.2460C>G (p.Ser820=)
n.2517C>G
c.2307C>G (p.Ser769=)
c.447C>G (p.Ser149=)
c.2421C>G (p.Ser807=)
n.3457C>G
18g.10784816G>TCA502893429PIEZO2c.2460C>A (p.Ser820=)
n.2517C>A
c.2307C>A (p.Ser769=)
c.447C>A (p.Ser149=)
c.2421C>A (p.Ser807=)
n.3457C>A
18g.10784817delCA2641014325PIEZO2c.2460del (p.Ile821PhefsTer21)
n.2517del
c.2460del (p.Ile821PhefsTer24)
c.2307del (p.Ile770PhefsTer24)
c.447del (p.Ile150PhefsTer24)
c.2421del (p.Ile808PhefsTer21)
n.3457del
 gnomAD v4
18g.10784817G>ACA401920244PIEZO2c.2459C>T (p.Ser820Phe)
n.2516C>T
c.2306C>T (p.Ser769Phe)
c.446C>T (p.Ser149Phe)
c.2420C>T (p.Ser807Phe)
n.3456C>T
 gnomAD v4
18g.10784817G>CCA401920245PIEZO2c.2459C>G (p.Ser820Cys)
n.2516C>G
c.2306C>G (p.Ser769Cys)
c.446C>G (p.Ser149Cys)
c.2420C>G (p.Ser807Cys)
n.3456C>G
18g.10784817G>TCA401920246PIEZO2c.2459C>A (p.Ser820Tyr)
n.2516C>A
c.2306C>A (p.Ser769Tyr)
c.446C>A (p.Ser149Tyr)
c.2420C>A (p.Ser807Tyr)
n.3456C>A
 gnomAD v4
18g.10784818A>CCA401920247PIEZO2c.2458T>G (p.Ser820Ala)
n.2515T>G
c.2305T>G (p.Ser769Ala)
c.445T>G (p.Ser149Ala)
c.2419T>G (p.Ser807Ala)
n.3455T>G
18g.10784818A>GCA401920248PIEZO2c.2458T>C (p.Ser820Pro)
n.2515T>C
c.2305T>C (p.Ser769Pro)
c.445T>C (p.Ser149Pro)
c.2419T>C (p.Ser807Pro)
n.3455T>C
18g.10784818A>TCA401920249PIEZO2c.2458T>A (p.Ser820Thr)
n.2515T>A
c.2305T>A (p.Ser769Thr)
c.445T>A (p.Ser149Thr)
c.2419T>A (p.Ser807Thr)
n.3455T>A
18g.10784819C>ACA401920250PIEZO2c.2457G>T (p.Lys819Asn)
n.2514G>T
c.2304G>T (p.Lys768Asn)
c.444G>T (p.Lys148Asn)
c.2418G>T (p.Lys806Asn)
n.3454G>T
18g.10784819C>GCA401920251PIEZO2c.2457G>C (p.Lys819Asn)
n.2514G>C
c.2304G>C (p.Lys768Asn)
c.444G>C (p.Lys148Asn)
c.2418G>C (p.Lys806Asn)
n.3454G>C
18g.10784819C>TCA502893430PIEZO2c.2457G>A (p.Lys819=)
n.2514G>A
c.2304G>A (p.Lys768=)
c.444G>A (p.Lys148=)
c.2418G>A (p.Lys806=)
n.3454G>A
 gnomAD v4
18g.10784820T>ACA401920254PIEZO2c.2456A>T (p.Lys819Met)
n.2513A>T
c.2303A>T (p.Lys768Met)
c.443A>T (p.Lys148Met)
c.2417A>T (p.Lys806Met)
n.3453A>T
18g.10784820T>CCA401920253PIEZO2c.2456A>G (p.Lys819Arg)
n.2513A>G
c.2303A>G (p.Lys768Arg)
c.443A>G (p.Lys148Arg)
c.2417A>G (p.Lys806Arg)
n.3453A>G
18g.10784820T>GCA401920252PIEZO2c.2456A>C (p.Lys819Thr)
n.2513A>C
c.2303A>C (p.Lys768Thr)
c.443A>C (p.Lys148Thr)
c.2417A>C (p.Lys806Thr)
n.3453A>C
18g.10784821T>ACA401920257PIEZO2c.2455A>T (p.Lys819Ter)
n.2512A>T
c.2302A>T (p.Lys768Ter)
c.442A>T (p.Lys148Ter)
c.2416A>T (p.Lys806Ter)
n.3452A>T
18g.10784821T>CCA401920255PIEZO2c.2455A>G (p.Lys819Glu)
n.2512A>G
c.2302A>G (p.Lys768Glu)
c.442A>G (p.Lys148Glu)
c.2416A>G (p.Lys806Glu)
n.3452A>G
18g.10784821T>GCA401920256PIEZO2c.2455A>C (p.Lys819Gln)
n.2512A>C
c.2302A>C (p.Lys768Gln)
c.442A>C (p.Lys148Gln)
c.2416A>C (p.Lys806Gln)
n.3452A>C
18g.10784822G>ACA502893431PIEZO2c.2454C>T (p.Leu818=)
n.2511C>T
c.2301C>T (p.Leu767=)
c.441C>T (p.Leu147=)
c.2415C>T (p.Leu805=)
n.3451C>T
18g.10784822G>CCA502893432PIEZO2c.2454C>G (p.Leu818=)
n.2511C>G
c.2301C>G (p.Leu767=)
c.441C>G (p.Leu147=)
c.2415C>G (p.Leu805=)
n.3451C>G
18g.10784822G>TCA502893433PIEZO2c.2454C>A (p.Leu818=)
n.2511C>A
c.2301C>A (p.Leu767=)
c.441C>A (p.Leu147=)
c.2415C>A (p.Leu805=)
n.3451C>A
 gnomAD v4
18g.10784823A>CCA401920258PIEZO2c.2453T>G (p.Leu818Arg)
n.2510T>G
c.2300T>G (p.Leu767Arg)
c.440T>G (p.Leu147Arg)
c.2414T>G (p.Leu805Arg)
n.3450T>G
18g.10784823A>GCA401920259PIEZO2c.2453T>C (p.Leu818Pro)
n.2510T>C
c.2300T>C (p.Leu767Pro)
c.440T>C (p.Leu147Pro)
c.2414T>C (p.Leu805Pro)
n.3450T>C
18g.10784823A>TCA401920260PIEZO2c.2453T>A (p.Leu818His)
n.2510T>A
c.2300T>A (p.Leu767His)
c.440T>A (p.Leu147His)
c.2414T>A (p.Leu805His)
n.3450T>A
18g.10784824G>ACA295999831PIEZO2c.2452C>T (p.Leu818Phe)
n.2509C>T
c.2299C>T (p.Leu767Phe)
c.439C>T (p.Leu147Phe)
c.2413C>T (p.Leu805Phe)
n.3449C>T
 dbSNP gnomAD v4
18g.10784824G>CCA401920261PIEZO2c.2452C>G (p.Leu818Val)
n.2509C>G
c.2299C>G (p.Leu767Val)
c.439C>G (p.Leu147Val)
c.2413C>G (p.Leu805Val)
n.3449C>G
18g.10784824G=CA2284463193PIEZO2c.2452C= (p.Leu818=)
n.2509C=
c.2299C= (p.Leu767=)
c.439C= (p.Leu147=)
c.2413C= (p.Leu805=)
n.3449C=
18g.10784824G>TCA401920262PIEZO2c.2452C>A (p.Leu818Ile)
n.2509C>A
c.2299C>A (p.Leu767Ile)
c.439C>A (p.Leu147Ile)
c.2413C>A (p.Leu805Ile)
n.3449C>A
18g.10784825G>ACA502893434PIEZO2c.2451C>T (p.Asp817=)
n.2508C>T
c.2298C>T (p.Asp766=)
c.438C>T (p.Asp146=)
c.2412C>T (p.Asp804=)
n.3448C>T
18g.10784825G>CCA401920263PIEZO2c.2451C>G (p.Asp817Glu)
n.2508C>G
c.2298C>G (p.Asp766Glu)
c.438C>G (p.Asp146Glu)
c.2412C>G (p.Asp804Glu)
n.3448C>G
18g.10784825G=CA2284463194PIEZO2c.2451C= (p.Asp817=)
n.2508C=
c.2298C= (p.Asp766=)
c.438C= (p.Asp146=)
c.2412C= (p.Asp804=)
n.3448C=
18g.10784825G>TCA401920264PIEZO2c.2451C>A (p.Asp817Glu)
n.2508C>A
c.2298C>A (p.Asp766Glu)
c.438C>A (p.Asp146Glu)
c.2412C>A (p.Asp804Glu)
n.3448C>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784826T>ACA401920265PIEZO2c.2450A>T (p.Asp817Val)
n.2507A>T
c.2297A>T (p.Asp766Val)
c.437A>T (p.Asp146Val)
c.2411A>T (p.Asp804Val)
n.3447A>T
18g.10784826T>CCA401920266PIEZO2c.2450A>G (p.Asp817Gly)
n.2507A>G
c.2297A>G (p.Asp766Gly)
c.437A>G (p.Asp146Gly)
c.2411A>G (p.Asp804Gly)
n.3447A>G
 dbSNP
18g.10784826T>GCA401920267PIEZO2c.2450A>C (p.Asp817Ala)
n.2507A>C
c.2297A>C (p.Asp766Ala)
c.437A>C (p.Asp146Ala)
c.2411A>C (p.Asp804Ala)
n.3447A>C
18g.10784826T=CA2284463195PIEZO2c.2450A= (p.Asp817=)
n.2507A=
c.2297A= (p.Asp766=)
c.437A= (p.Asp146=)
c.2411A= (p.Asp804=)
n.3447A=
18g.10784827C>ACA401920268PIEZO2c.2449G>T (p.Asp817Tyr)
n.2506G>T
c.2296G>T (p.Asp766Tyr)
c.436G>T (p.Asp146Tyr)
c.2410G>T (p.Asp804Tyr)
n.3446G>T
18g.10784827C=CA2284463196PIEZO2c.2449G= (p.Asp817=)
n.2506G=
c.2296G= (p.Asp766=)
c.436G= (p.Asp146=)
c.2410G= (p.Asp804=)
n.3446G=
18g.10784827C>GCA8892660PIEZO2c.2449G>C (p.Asp817His)
n.2506G>C
c.2296G>C (p.Asp766His)
c.436G>C (p.Asp146His)
c.2410G>C (p.Asp804His)
n.3446G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784827C>TCA8892659PIEZO2c.2449G>A (p.Asp817Asn)
n.2506G>A
c.2296G>A (p.Asp766Asn)
c.436G>A (p.Asp146Asn)
c.2410G>A (p.Asp804Asn)
n.3446G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784828T>ACA502893435PIEZO2c.2448A>T (p.Thr816=)
n.2505A>T
c.2295A>T (p.Thr765=)
c.435A>T (p.Thr145=)
c.2409A>T (p.Thr803=)
n.3445A>T
18g.10784828T>CCA502893436PIEZO2c.2448A>G (p.Thr816=)
n.2505A>G
c.2295A>G (p.Thr765=)
c.435A>G (p.Thr145=)
c.2409A>G (p.Thr803=)
n.3445A>G
18g.10784828T>GCA502893437PIEZO2c.2448A>C (p.Thr816=)
n.2505A>C
c.2295A>C (p.Thr765=)
c.435A>C (p.Thr145=)
c.2409A>C (p.Thr803=)
n.3445A>C
18g.10784829G>ACA401920269PIEZO2c.2447C>T (p.Thr816Ile)
n.2504C>T
c.2294C>T (p.Thr765Ile)
c.434C>T (p.Thr145Ile)
c.2408C>T (p.Thr803Ile)
n.3444C>T
 dbSNP gnomAD v3 gnomAD v4
18g.10784829G>CCA401920270PIEZO2c.2447C>G (p.Thr816Arg)
n.2504C>G
c.2294C>G (p.Thr765Arg)
c.434C>G (p.Thr145Arg)
c.2408C>G (p.Thr803Arg)
n.3444C>G
 gnomAD v4
18g.10784829G=CA2284463197PIEZO2c.2447C= (p.Thr816=)
n.2504C=
c.2294C= (p.Thr765=)
c.434C= (p.Thr145=)
c.2408C= (p.Thr803=)
n.3444C=
18g.10784829G>TCA401920271PIEZO2c.2447C>A (p.Thr816Lys)
n.2504C>A
c.2294C>A (p.Thr765Lys)
c.434C>A (p.Thr145Lys)
c.2408C>A (p.Thr803Lys)
n.3444C>A
18g.10784830T>ACA401920272PIEZO2c.2446A>T (p.Thr816Ser)
n.2503A>T
c.2293A>T (p.Thr765Ser)
c.433A>T (p.Thr145Ser)
c.2407A>T (p.Thr803Ser)
n.3443A>T
18g.10784830T>CCA401920273PIEZO2c.2446A>G (p.Thr816Ala)
n.2503A>G
c.2293A>G (p.Thr765Ala)
c.433A>G (p.Thr145Ala)
c.2407A>G (p.Thr803Ala)
n.3443A>G
 dbSNP gnomAD v2 gnomAD v4
18g.10784830T>GCA401920274PIEZO2c.2446A>C (p.Thr816Pro)
n.2503A>C
c.2293A>C (p.Thr765Pro)
c.433A>C (p.Thr145Pro)
c.2407A>C (p.Thr803Pro)
n.3443A>C
18g.10784830T=CA2284463199PIEZO2c.2446A= (p.Thr816=)
n.2503A=
c.2293A= (p.Thr765=)
c.433A= (p.Thr145=)
c.2407A= (p.Thr803=)
n.3443A=
18g.10784830dupCA2284463198PIEZO2c.2446dup (p.Thr816AsnfsTer30)
n.2503dup
c.2446dup (p.Thr816AsnfsTer?)
c.2293dup (p.Thr765AsnfsTer?)
c.433dup (p.Thr145AsnfsTer?)
c.2407dup (p.Thr803AsnfsTer30)
n.3443dup
 dbSNP gnomAD v3 gnomAD v4
18g.10784831G>ACA502893438PIEZO2c.2445C>T (p.Leu815=)
n.2502C>T
c.2292C>T (p.Leu764=)
c.432C>T (p.Leu144=)
c.2406C>T (p.Leu802=)
n.3442C>T
18g.10784831G>CCA502893440PIEZO2c.2445C>G (p.Leu815=)
n.2502C>G
c.2292C>G (p.Leu764=)
c.432C>G (p.Leu144=)
c.2406C>G (p.Leu802=)
n.3442C>G
18g.10784831G>TCA502893439PIEZO2c.2445C>A (p.Leu815=)
n.2502C>A
c.2292C>A (p.Leu764=)
c.432C>A (p.Leu144=)
c.2406C>A (p.Leu802=)
n.3442C>A
18g.10784832A>CCA401920275PIEZO2c.2444T>G (p.Leu815Arg)
n.2501T>G
c.2291T>G (p.Leu764Arg)
c.431T>G (p.Leu144Arg)
c.2405T>G (p.Leu802Arg)
n.3441T>G
18g.10784832A>GCA401920276PIEZO2c.2444T>C (p.Leu815Pro)
n.2501T>C
c.2291T>C (p.Leu764Pro)
c.431T>C (p.Leu144Pro)
c.2405T>C (p.Leu802Pro)
n.3441T>C
18g.10784832A>TCA401920277PIEZO2c.2444T>A (p.Leu815His)
n.2501T>A
c.2291T>A (p.Leu764His)
c.431T>A (p.Leu144His)
c.2405T>A (p.Leu802His)
n.3441T>A
18g.10784833G>ACA401920278PIEZO2c.2443C>T (p.Leu815Phe)
n.2500C>T
c.2290C>T (p.Leu764Phe)
c.430C>T (p.Leu144Phe)
c.2404C>T (p.Leu802Phe)
n.3440C>T
 gnomAD v4
18g.10784833G>CCA401920279PIEZO2c.2443C>G (p.Leu815Val)
n.2500C>G
c.2290C>G (p.Leu764Val)
c.430C>G (p.Leu144Val)
c.2404C>G (p.Leu802Val)
n.3440C>G
18g.10784833G=CA2284463200PIEZO2c.2443C= (p.Leu815=)
n.2500C=
c.2290C= (p.Leu764=)
c.430C= (p.Leu144=)
c.2404C= (p.Leu802=)
n.3440C=
18g.10784833G>TCA401920280PIEZO2c.2443C>A (p.Leu815Ile)
n.2500C>A
c.2290C>A (p.Leu764Ile)
c.430C>A (p.Leu144Ile)
c.2404C>A (p.Leu802Ile)
n.3440C>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784834T>ACA401920281PIEZO2c.2442A>T (p.Glu814Asp)
n.2499A>T
c.2289A>T (p.Glu763Asp)
c.429A>T (p.Glu143Asp)
c.2403A>T (p.Glu801Asp)
n.3439A>T
18g.10784834T>CCA502893441PIEZO2c.2442A>G (p.Glu814=)
n.2499A>G
c.2289A>G (p.Glu763=)
c.429A>G (p.Glu143=)
c.2403A>G (p.Glu801=)
n.3439A>G
18g.10784834T>GCA401920282PIEZO2c.2442A>C (p.Glu814Asp)
n.2499A>C
c.2289A>C (p.Glu763Asp)
c.429A>C (p.Glu143Asp)
c.2403A>C (p.Glu801Asp)
n.3439A>C
18g.10784835T>ACA401920284PIEZO2c.2441A>T (p.Glu814Val)
n.2498A>T
c.2288A>T (p.Glu763Val)
c.428A>T (p.Glu143Val)
c.2402A>T (p.Glu801Val)
n.3438A>T
18g.10784835T>CCA401920285PIEZO2c.2441A>G (p.Glu814Gly)
n.2498A>G
c.2288A>G (p.Glu763Gly)
c.428A>G (p.Glu143Gly)
c.2402A>G (p.Glu801Gly)
n.3438A>G
18g.10784835T>GCA401920283PIEZO2c.2441A>C (p.Glu814Ala)
n.2498A>C
c.2288A>C (p.Glu763Ala)
c.428A>C (p.Glu143Ala)
c.2402A>C (p.Glu801Ala)
n.3438A>C
18g.10784836C>ACA401920286PIEZO2c.2440G>T (p.Glu814Ter)
n.2497G>T
c.2287G>T (p.Glu763Ter)
c.427G>T (p.Glu143Ter)
c.2401G>T (p.Glu801Ter)
n.3437G>T
18g.10784836C=CA2284463201PIEZO2c.2440G= (p.Glu814=)
n.2497G=
c.2287G= (p.Glu763=)
c.427G= (p.Glu143=)
c.2401G= (p.Glu801=)
n.3437G=
18g.10784836C>GCA401920287PIEZO2c.2440G>C (p.Glu814Gln)
n.2497G>C
c.2287G>C (p.Glu763Gln)
c.427G>C (p.Glu143Gln)
c.2401G>C (p.Glu801Gln)
n.3437G>C
18g.10784836C>TCA401920288PIEZO2c.2440G>A (p.Glu814Lys)
n.2497G>A
c.2287G>A (p.Glu763Lys)
c.427G>A (p.Glu143Lys)
c.2401G>A (p.Glu801Lys)
n.3437G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10784837A>CCA502893442PIEZO2c.2439T>G (p.Leu813=)
n.2496T>G
c.2286T>G (p.Leu762=)
c.426T>G (p.Leu142=)
c.2400T>G (p.Leu800=)
n.3436T>G
18g.10784837A>GCA502893443PIEZO2c.2439T>C (p.Leu813=)
n.2496T>C
c.2286T>C (p.Leu762=)
c.426T>C (p.Leu142=)
c.2400T>C (p.Leu800=)
n.3436T>C
 gnomAD v4
18g.10784837A>TCA502893444PIEZO2c.2439T>A (p.Leu813=)
n.2496T>A
c.2286T>A (p.Leu762=)
c.426T>A (p.Leu142=)
c.2400T>A (p.Leu800=)
n.3436T>A
18g.10784838A>CCA401920289PIEZO2c.2438T>G (p.Leu813Arg)
n.2495T>G
c.2285T>G (p.Leu762Arg)
c.425T>G (p.Leu142Arg)
c.2399T>G (p.Leu800Arg)
n.3435T>G
18g.10784838A>GCA401920290PIEZO2c.2438T>C (p.Leu813Pro)
n.2495T>C
c.2285T>C (p.Leu762Pro)
c.425T>C (p.Leu142Pro)
c.2399T>C (p.Leu800Pro)
n.3435T>C
 gnomAD v4
18g.10784838A>TCA401920291PIEZO2c.2438T>A (p.Leu813His)
n.2495T>A
c.2285T>A (p.Leu762His)
c.425T>A (p.Leu142His)
c.2399T>A (p.Leu800His)
n.3435T>A
18g.10784839G>ACA401920292PIEZO2c.2437C>T (p.Leu813Phe)
n.2494C>T
c.2284C>T (p.Leu762Phe)
c.424C>T (p.Leu142Phe)
c.2398C>T (p.Leu800Phe)
n.3434C>T
18g.10784839G>CCA401920293PIEZO2c.2437C>G (p.Leu813Val)
n.2494C>G
c.2284C>G (p.Leu762Val)
c.424C>G (p.Leu142Val)
c.2398C>G (p.Leu800Val)
n.3434C>G
18g.10784839G>TCA401920294PIEZO2c.2437C>A (p.Leu813Ile)
n.2494C>A
c.2284C>A (p.Leu762Ile)
c.424C>A (p.Leu142Ile)
c.2398C>A (p.Leu800Ile)
n.3434C>A
18g.10784840G>ACA502893445PIEZO2c.2436C>T (p.Phe812=)
n.2493C>T
c.2283C>T (p.Phe761=)
c.423C>T (p.Phe141=)
c.2397C>T (p.Phe799=)
n.3433C>T
18g.10784840G>CCA401920295PIEZO2c.2436C>G (p.Phe812Leu)
n.2493C>G
c.2283C>G (p.Phe761Leu)
c.423C>G (p.Phe141Leu)
c.2397C>G (p.Phe799Leu)
n.3433C>G
 gnomAD v4
18g.10784840G>TCA401920296PIEZO2c.2436C>A (p.Phe812Leu)
n.2493C>A
c.2283C>A (p.Phe761Leu)
c.423C>A (p.Phe141Leu)
c.2397C>A (p.Phe799Leu)
n.3433C>A
18g.10784841A>CCA401920299PIEZO2c.2435T>G (p.Phe812Cys)
n.2492T>G
c.2282T>G (p.Phe761Cys)
c.422T>G (p.Phe141Cys)
c.2396T>G (p.Phe799Cys)
n.3432T>G
18g.10784841A>GCA401920298PIEZO2c.2435T>C (p.Phe812Ser)
n.2492T>C
c.2282T>C (p.Phe761Ser)
c.422T>C (p.Phe141Ser)
c.2396T>C (p.Phe799Ser)
n.3432T>C
18g.10784841A>TCA401920297PIEZO2c.2435T>A (p.Phe812Tyr)
n.2492T>A
c.2282T>A (p.Phe761Tyr)
c.422T>A (p.Phe141Tyr)
c.2396T>A (p.Phe799Tyr)
n.3432T>A
18g.10784842A=CA2284463202PIEZO2c.2434T= (p.Phe812=)
n.2491T=
c.2281T= (p.Phe761=)
c.421T= (p.Phe141=)
c.2395T= (p.Phe799=)
n.3431T=
18g.10784842A>CCA401920300PIEZO2c.2434T>G (p.Phe812Val)
n.2491T>G
c.2281T>G (p.Phe761Val)
c.421T>G (p.Phe141Val)
c.2395T>G (p.Phe799Val)
n.3431T>G
18g.10784842A>GCA401920301PIEZO2c.2434T>C (p.Phe812Leu)
n.2491T>C
c.2281T>C (p.Phe761Leu)
c.421T>C (p.Phe141Leu)
c.2395T>C (p.Phe799Leu)
n.3431T>C
 dbSNP gnomAD v4 COSMIC
18g.10784842A>TCA401920302PIEZO2c.2434T>A (p.Phe812Ile)
n.2491T>A
c.2281T>A (p.Phe761Ile)
c.421T>A (p.Phe141Ile)
c.2395T>A (p.Phe799Ile)
n.3431T>A
18g.10784843C>ACA502893446PIEZO2c.2433G>T (p.Arg811=)
n.2490G>T
c.2280G>T (p.Arg760=)
c.420G>T (p.Arg140=)
c.2394G>T (p.Arg798=)
n.3430G>T
18g.10784843C>GCA502893447PIEZO2c.2433G>C (p.Arg811=)
n.2490G>C
c.2280G>C (p.Arg760=)
c.420G>C (p.Arg140=)
c.2394G>C (p.Arg798=)
n.3430G>C
18g.10784843C>TCA502893448PIEZO2c.2433G>A (p.Arg811=)
n.2490G>A
c.2280G>A (p.Arg760=)
c.420G>A (p.Arg140=)
c.2394G>A (p.Arg798=)
n.3430G>A
 gnomAD v4
18g.10784844C>ACA401920303PIEZO2c.2432G>T (p.Arg811Leu)
n.2489G>T
c.2279G>T (p.Arg760Leu)
c.419G>T (p.Arg140Leu)
c.2393G>T (p.Arg798Leu)
n.3429G>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784844C=CA2284463203PIEZO2c.2432G= (p.Arg811=)
n.2489G=
c.2279G= (p.Arg760=)
c.419G= (p.Arg140=)
c.2393G= (p.Arg798=)
n.3429G=
18g.10784844C>GCA401920304PIEZO2c.2432G>C (p.Arg811Pro)
n.2489G>C
c.2279G>C (p.Arg760Pro)
c.419G>C (p.Arg140Pro)
c.2393G>C (p.Arg798Pro)
n.3429G>C
 gnomAD v4
18g.10784844C>TCA401920305PIEZO2c.2432G>A (p.Arg811Gln)
n.2489G>A
c.2279G>A (p.Arg760Gln)
c.419G>A (p.Arg140Gln)
c.2393G>A (p.Arg798Gln)
n.3429G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784845G>ACA8892661PIEZO2c.2431C>T (p.Arg811Trp)
n.2488C>T
c.2278C>T (p.Arg760Trp)
c.418C>T (p.Arg140Trp)
c.2392C>T (p.Arg798Trp)
n.3428C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784845G>CCA401920306PIEZO2c.2431C>G (p.Arg811Gly)
n.2488C>G
c.2278C>G (p.Arg760Gly)
c.418C>G (p.Arg140Gly)
c.2392C>G (p.Arg798Gly)
n.3428C>G
18g.10784845G=CA2284463204PIEZO2c.2431C= (p.Arg811=)
n.2488C=
c.2278C= (p.Arg760=)
c.418C= (p.Arg140=)
c.2392C= (p.Arg798=)
n.3428C=
18g.10784845G>TCA502893449PIEZO2c.2431C>A (p.Arg811=)
n.2488C>A
c.2278C>A (p.Arg760=)
c.418C>A (p.Arg140=)
c.2392C>A (p.Arg798=)
n.3428C>A
 dbSNP gnomAD v3 gnomAD v4
18g.10784846G>ACA502893450PIEZO2c.2430C>T (p.Asp810=)
n.2487C>T
c.2277C>T (p.Asp759=)
c.417C>T (p.Asp139=)
c.2391C>T (p.Asp797=)
n.3427C>T
 gnomAD v4
18g.10784846G>CCA401920307PIEZO2c.2430C>G (p.Asp810Glu)
n.2487C>G
c.2277C>G (p.Asp759Glu)
c.417C>G (p.Asp139Glu)
c.2391C>G (p.Asp797Glu)
n.3427C>G
18g.10784846G>TCA401920308PIEZO2c.2430C>A (p.Asp810Glu)
n.2487C>A
c.2277C>A (p.Asp759Glu)
c.417C>A (p.Asp139Glu)
c.2391C>A (p.Asp797Glu)
n.3427C>A
18g.10784847T>ACA401920309PIEZO2c.2429A>T (p.Asp810Val)
n.2486A>T
c.2276A>T (p.Asp759Val)
c.416A>T (p.Asp139Val)
c.2390A>T (p.Asp797Val)
n.3426A>T
 gnomAD v4
18g.10784847T>CCA401920310PIEZO2c.2429A>G (p.Asp810Gly)
n.2486A>G
c.2276A>G (p.Asp759Gly)
c.416A>G (p.Asp139Gly)
c.2390A>G (p.Asp797Gly)
n.3426A>G
18g.10784847T>GCA401920311PIEZO2c.2429A>C (p.Asp810Ala)
n.2486A>C
c.2276A>C (p.Asp759Ala)
c.416A>C (p.Asp139Ala)
c.2390A>C (p.Asp797Ala)
n.3426A>C
18g.10784848C>ACA401920313PIEZO2c.2428G>T (p.Asp810Tyr)
n.2485G>T
c.2275G>T (p.Asp759Tyr)
c.415G>T (p.Asp139Tyr)
c.2389G>T (p.Asp797Tyr)
n.3425G>T
18g.10784848C=CA2284463205PIEZO2c.2428G= (p.Asp810=)
n.2485G=
c.2275G= (p.Asp759=)
c.415G= (p.Asp139=)
c.2389G= (p.Asp797=)
n.3425G=
18g.10784848C>GCA401920314PIEZO2c.2428G>C (p.Asp810His)
n.2485G>C
c.2275G>C (p.Asp759His)
c.415G>C (p.Asp139His)
c.2389G>C (p.Asp797His)
n.3425G>C
18g.10784848C>TCA401920312PIEZO2c.2428G>A (p.Asp810Asn)
n.2485G>A
c.2275G>A (p.Asp759Asn)
c.415G>A (p.Asp139Asn)
c.2389G>A (p.Asp797Asn)
n.3425G>A
 dbSNP
18g.10784849A=CA2284463206PIEZO2c.2427T= (p.His809=)
n.2484T=
c.2274T= (p.His758=)
c.414T= (p.His138=)
c.2388T= (p.His796=)
n.3424T=
18g.10784849A>CCA401920315PIEZO2c.2427T>G (p.His809Gln)
n.2484T>G
c.2274T>G (p.His758Gln)
c.414T>G (p.His138Gln)
c.2388T>G (p.His796Gln)
n.3424T>G
18g.10784849A>GCA502893451PIEZO2c.2427T>C (p.His809=)
n.2484T>C
c.2274T>C (p.His758=)
c.414T>C (p.His138=)
c.2388T>C (p.His796=)
n.3424T>C
18g.10784849A>TCA401920316PIEZO2c.2427T>A (p.His809Gln)
n.2484T>A
c.2274T>A (p.His758Gln)
c.414T>A (p.His138Gln)
c.2388T>A (p.His796Gln)
n.3424T>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784850T>ACA401920317PIEZO2c.2426A>T (p.His809Leu)
n.2483A>T
c.2273A>T (p.His758Leu)
c.413A>T (p.His138Leu)
c.2387A>T (p.His796Leu)
n.3423A>T
18g.10784850T>CCA401920319PIEZO2c.2426A>G (p.His809Arg)
n.2483A>G
c.2273A>G (p.His758Arg)
c.413A>G (p.His138Arg)
c.2387A>G (p.His796Arg)
n.3423A>G
 gnomAD v4
18g.10784850T>GCA401920318PIEZO2c.2426A>C (p.His809Pro)
n.2483A>C
c.2273A>C (p.His758Pro)
c.413A>C (p.His138Pro)
c.2387A>C (p.His796Pro)
n.3423A>C
18g.10784850_10784851delinsTGCA2284463207PIEZO2c.2425_2426delinsCA (p.His809=)
n.2482_2483delinsCA
c.2272_2273delinsCA (p.His758=)
c.412_413delinsCA (p.His138=)
c.2386_2387delinsCA (p.His796=)
n.3422_3423delinsCA
18g.10784851G>ACA401920320PIEZO2c.2425C>T (p.His809Tyr)
n.2482C>T
c.2272C>T (p.His758Tyr)
c.412C>T (p.His138Tyr)
c.2386C>T (p.His796Tyr)
n.3422C>T
18g.10784851G>CCA401920321PIEZO2c.2425C>G (p.His809Asp)
n.2482C>G
c.2272C>G (p.His758Asp)
c.412C>G (p.His138Asp)
c.2386C>G (p.His796Asp)
n.3422C>G
18g.10784851G>TCA401920322PIEZO2c.2425C>A (p.His809Asn)
n.2482C>A
c.2272C>A (p.His758Asn)
c.412C>A (p.His138Asn)
c.2386C>A (p.His796Asn)
n.3422C>A
18g.10784852delCA987788596PIEZO2c.2425del (p.His809MetfsTer?)
n.2482del
c.2272del (p.His758MetfsTer?)
c.412del (p.His138MetfsTer?)
c.2386del (p.His796MetfsTer?)
n.3422del
 dbSNP gnomAD v3 gnomAD v4
18g.10784852G>ACA8892662PIEZO2c.2424C>T (p.Phe808=)
n.2481C>T
c.2271C>T (p.Phe757=)
c.411C>T (p.Phe137=)
c.2385C>T (p.Phe795=)
n.3421C>T
 dbSNP ExAC gnomAD v4
18g.10784852G>CCA401920323PIEZO2c.2424C>G (p.Phe808Leu)
n.2481C>G
c.2271C>G (p.Phe757Leu)
c.411C>G (p.Phe137Leu)
c.2385C>G (p.Phe795Leu)
n.3421C>G
18g.10784852G=CA2284463208PIEZO2c.2424C= (p.Phe808=)
n.2481C=
c.2271C= (p.Phe757=)
c.411C= (p.Phe137=)
c.2385C= (p.Phe795=)
n.3421C=
18g.10784852G>TCA401920324PIEZO2c.2424C>A (p.Phe808Leu)
n.2481C>A
c.2271C>A (p.Phe757Leu)
c.411C>A (p.Phe137Leu)
c.2385C>A (p.Phe795Leu)
n.3421C>A
18g.10784853A=CA2284463209PIEZO2c.2423T= (p.Phe808=)
n.2480T=
c.2270T= (p.Phe757=)
c.410T= (p.Phe137=)
c.2384T= (p.Phe795=)
n.3420T=
18g.10784853A>CCA401920325PIEZO2c.2423T>G (p.Phe808Cys)
n.2480T>G
c.2270T>G (p.Phe757Cys)
c.410T>G (p.Phe137Cys)
c.2384T>G (p.Phe795Cys)
n.3420T>G
18g.10784853A>GCA401920326PIEZO2c.2423T>C (p.Phe808Ser)
n.2480T>C
c.2270T>C (p.Phe757Ser)
c.410T>C (p.Phe137Ser)
c.2384T>C (p.Phe795Ser)
n.3420T>C
18g.10784853A>TCA401920327PIEZO2c.2423T>A (p.Phe808Tyr)
n.2480T>A
c.2270T>A (p.Phe757Tyr)
c.410T>A (p.Phe137Tyr)
c.2384T>A (p.Phe795Tyr)
n.3420T>A
18g.10784854A>CCA401920328PIEZO2c.2422T>G (p.Phe808Val)
n.2479T>G
c.2269T>G (p.Phe757Val)
c.409T>G (p.Phe137Val)
c.2383T>G (p.Phe795Val)
n.3419T>G
18g.10784854A>GCA401920329PIEZO2c.2422T>C (p.Phe808Leu)
n.2479T>C
c.2269T>C (p.Phe757Leu)
c.409T>C (p.Phe137Leu)
c.2383T>C (p.Phe795Leu)
n.3419T>C
18g.10784854A>TCA401920330PIEZO2c.2422T>A (p.Phe808Ile)
n.2479T>A
c.2269T>A (p.Phe757Ile)
c.409T>A (p.Phe137Ile)
c.2383T>A (p.Phe795Ile)
n.3419T>A
18g.10784857_10784859dupCA502893452PIEZO2c.2420_2422dup (p.Tyr807_Phe808insTyr)
n.2477_2479dup
c.2267_2269dup (p.Tyr756_Phe757insTyr)
c.407_409dup (p.Tyr136_Phe137insTyr)
c.2381_2383dup (p.Tyr794_Phe795insTyr)
n.3417_3419dup
 dbSNP
18g.10784855G>ACA502893453PIEZO2c.2421C>T (p.Tyr807=)
n.2478C>T
c.2268C>T (p.Tyr756=)
c.408C>T (p.Tyr136=)
c.2382C>T (p.Tyr794=)
n.3418C>T
 dbSNP gnomAD v4
18g.10784855G>CCA401920332PIEZO2c.2421C>G (p.Tyr807Ter)
n.2478C>G
c.2268C>G (p.Tyr756Ter)
c.408C>G (p.Tyr136Ter)
c.2382C>G (p.Tyr794Ter)
n.3418C>G
18g.10784855G>TCA401920331PIEZO2c.2421C>A (p.Tyr807Ter)
n.2478C>A
c.2268C>A (p.Tyr756Ter)
c.408C>A (p.Tyr136Ter)
c.2382C>A (p.Tyr794Ter)
n.3418C>A
18g.10784856T>ACA401920333PIEZO2c.2420A>T (p.Tyr807Phe)
n.2477A>T
c.2267A>T (p.Tyr756Phe)
c.407A>T (p.Tyr136Phe)
c.2381A>T (p.Tyr794Phe)
n.3417A>T
18g.10784856T>CCA401920334PIEZO2c.2420A>G (p.Tyr807Cys)
n.2477A>G
c.2267A>G (p.Tyr756Cys)
c.407A>G (p.Tyr136Cys)
c.2381A>G (p.Tyr794Cys)
n.3417A>G
 gnomAD v4
18g.10784856T>GCA401920335PIEZO2c.2420A>C (p.Tyr807Ser)
n.2477A>C
c.2267A>C (p.Tyr756Ser)
c.407A>C (p.Tyr136Ser)
c.2381A>C (p.Tyr794Ser)
n.3417A>C
18g.10784857A>CCA401920336PIEZO2c.2419T>G (p.Tyr807Asp)
n.2476T>G
c.2266T>G (p.Tyr756Asp)
c.406T>G (p.Tyr136Asp)
c.2380T>G (p.Tyr794Asp)
n.3416T>G
18g.10784857A>GCA401920337PIEZO2c.2419T>C (p.Tyr807His)
n.2476T>C
c.2266T>C (p.Tyr756His)
c.406T>C (p.Tyr136His)
c.2380T>C (p.Tyr794His)
n.3416T>C
18g.10784857A>TCA401920338PIEZO2c.2419T>A (p.Tyr807Asn)
n.2476T>A
c.2266T>A (p.Tyr756Asn)
c.406T>A (p.Tyr136Asn)
c.2380T>A (p.Tyr794Asn)
n.3416T>A
18g.10784858G>ACA502893455PIEZO2c.2418C>T (p.His806=)
n.2475C>T
c.2265C>T (p.His755=)
c.405C>T (p.His135=)
c.2379C>T (p.His793=)
n.3415C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10784858G>CCA401920339PIEZO2c.2418C>G (p.His806Gln)
n.2475C>G
c.2265C>G (p.His755Gln)
c.405C>G (p.His135Gln)
c.2379C>G (p.His793Gln)
n.3415C>G
18g.10784858G=CA2284463210PIEZO2c.2418C= (p.His806=)
n.2475C=
c.2265C= (p.His755=)
c.405C= (p.His135=)
c.2379C= (p.His793=)
n.3415C=
18g.10784858G>TCA401920340PIEZO2c.2418C>A (p.His806Gln)
n.2475C>A
c.2265C>A (p.His755Gln)
c.405C>A (p.His135Gln)
c.2379C>A (p.His793Gln)
n.3415C>A
18g.10784859T>ACA401920341PIEZO2c.2417A>T (p.His806Leu)
n.2474A>T
c.2264A>T (p.His755Leu)
c.404A>T (p.His135Leu)
c.2378A>T (p.His793Leu)
n.3414A>T
18g.10784859T>CCA401920342PIEZO2c.2417A>G (p.His806Arg)
n.2474A>G
c.2264A>G (p.His755Arg)
c.404A>G (p.His135Arg)
c.2378A>G (p.His793Arg)
n.3414A>G
 dbSNP gnomAD v4
18g.10784859T>GCA401920343PIEZO2c.2417A>C (p.His806Pro)
n.2474A>C
c.2264A>C (p.His755Pro)
c.404A>C (p.His135Pro)
c.2378A>C (p.His793Pro)
n.3414A>C
18g.10784859T=CA2284463211PIEZO2c.2417A= (p.His806=)
n.2474A=
c.2264A= (p.His755=)
c.404A= (p.His135=)
c.2378A= (p.His793=)
n.3414A=
18g.10784860G>ACA401920346PIEZO2c.2416C>T (p.His806Tyr)
n.2473C>T
c.2263C>T (p.His755Tyr)
c.403C>T (p.His135Tyr)
c.2377C>T (p.His793Tyr)
n.3413C>T
 gnomAD v4
18g.10784860G>CCA401920345PIEZO2c.2416C>G (p.His806Asp)
n.2473C>G
c.2263C>G (p.His755Asp)
c.403C>G (p.His135Asp)
c.2377C>G (p.His793Asp)
n.3413C>G
18g.10784860G>TCA401920344PIEZO2c.2416C>A (p.His806Asn)
n.2473C>A
c.2263C>A (p.His755Asn)
c.403C>A (p.His135Asn)
c.2377C>A (p.His793Asn)
n.3413C>A
18g.10784861C>ACA502893456PIEZO2c.2415G>T (p.Leu805=)
n.2472G>T
c.2262G>T (p.Leu754=)
c.402G>T (p.Leu134=)
c.2376G>T (p.Leu792=)
n.3412G>T
18g.10784861C=CA2284463212PIEZO2c.2415G= (p.Leu805=)
n.2472G=
c.2262G= (p.Leu754=)
c.402G= (p.Leu134=)
c.2376G= (p.Leu792=)
n.3412G=
18g.10784861C>GCA502893457PIEZO2c.2415G>C (p.Leu805=)
n.2472G>C
c.2262G>C (p.Leu754=)
c.402G>C (p.Leu134=)
c.2376G>C (p.Leu792=)
n.3412G>C
18g.10784861C>TCA295999846PIEZO2c.2415G>A (p.Leu805=)
n.2472G>A
c.2262G>A (p.Leu754=)
c.402G>A (p.Leu134=)
c.2376G>A (p.Leu792=)
n.3412G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784862A=CA2284463213PIEZO2c.2414T= (p.Leu805=)
n.2471T=
c.2261T= (p.Leu754=)
c.401T= (p.Leu134=)
c.2375T= (p.Leu792=)
n.3411T=
18g.10784862A>CCA401920347PIEZO2c.2414T>G (p.Leu805Arg)
n.2471T>G
c.2261T>G (p.Leu754Arg)
c.401T>G (p.Leu134Arg)
c.2375T>G (p.Leu792Arg)
n.3411T>G
18g.10784862A>GCA295999847PIEZO2c.2414T>C (p.Leu805Pro)
n.2471T>C
c.2261T>C (p.Leu754Pro)
c.401T>C (p.Leu134Pro)
c.2375T>C (p.Leu792Pro)
n.3411T>C
 ClinVar dbSNP gnomAD v4
18g.10784862A>TCA401920348PIEZO2c.2414T>A (p.Leu805Gln)
n.2471T>A
c.2261T>A (p.Leu754Gln)
c.401T>A (p.Leu134Gln)
c.2375T>A (p.Leu792Gln)
n.3411T>A
18g.10784863G>ACA502893458PIEZO2c.2413C>T (p.Leu805=)
n.2470C>T
c.2260C>T (p.Leu754=)
c.400C>T (p.Leu134=)
c.2374C>T (p.Leu792=)
n.3410C>T
 gnomAD v4
18g.10784863G>CCA401920349PIEZO2c.2413C>G (p.Leu805Val)
n.2470C>G
c.2260C>G (p.Leu754Val)
c.400C>G (p.Leu134Val)
c.2374C>G (p.Leu792Val)
n.3410C>G
18g.10784863G>TCA401920350PIEZO2c.2413C>A (p.Leu805Met)
n.2470C>A
c.2260C>A (p.Leu754Met)
c.400C>A (p.Leu134Met)
c.2374C>A (p.Leu792Met)
n.3410C>A
 dbSNP gnomAD v4
18g.10784864G>ACA502893459PIEZO2c.2412C>T (p.His804=)
n.2469C>T
c.2259C>T (p.His753=)
c.399C>T (p.His133=)
c.2373C>T (p.His791=)
n.3409C>T
 gnomAD v4
18g.10784864G>CCA8892663PIEZO2c.2412C>G (p.His804Gln)
n.2469C>G
c.2259C>G (p.His753Gln)
c.399C>G (p.His133Gln)
c.2373C>G (p.His791Gln)
n.3409C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10784864G=CA2284463214PIEZO2c.2412C= (p.His804=)
n.2469C=
c.2259C= (p.His753=)
c.399C= (p.His133=)
c.2373C= (p.His791=)
n.3409C=
18g.10784864G>TCA401920351PIEZO2c.2412C>A (p.His804Gln)
n.2469C>A
c.2259C>A (p.His753Gln)
c.399C>A (p.His133Gln)
c.2373C>A (p.His791Gln)
n.3409C>A
18g.10784865T>ACA401920352PIEZO2c.2411A>T (p.His804Leu)
n.2468A>T
c.2258A>T (p.His753Leu)
c.398A>T (p.His133Leu)
c.2372A>T (p.His791Leu)
n.3408A>T
18g.10784865T>CCA401920353PIEZO2c.2411A>G (p.His804Arg)
n.2468A>G
c.2258A>G (p.His753Arg)
c.398A>G (p.His133Arg)
c.2372A>G (p.His791Arg)
n.3408A>G
18g.10784865T>GCA401920354PIEZO2c.2411A>C (p.His804Pro)
n.2468A>C
c.2258A>C (p.His753Pro)
c.398A>C (p.His133Pro)
c.2372A>C (p.His791Pro)
n.3408A>C
18g.10784866G>ACA401920355PIEZO2c.2410C>T (p.His804Tyr)
n.2467C>T
c.2257C>T (p.His753Tyr)
c.397C>T (p.His133Tyr)
c.2371C>T (p.His791Tyr)
n.3407C>T
 gnomAD v4
18g.10784866G>CCA401920356PIEZO2c.2410C>G (p.His804Asp)
n.2467C>G
c.2257C>G (p.His753Asp)
c.397C>G (p.His133Asp)
c.2371C>G (p.His791Asp)
n.3407C>G
18g.10784866G>TCA401920357PIEZO2c.2410C>A (p.His804Asn)
n.2467C>A
c.2257C>A (p.His753Asn)
c.397C>A (p.His133Asn)
c.2371C>A (p.His791Asn)
n.3407C>A
18g.10784867T>ACA401920358PIEZO2c.2409A>T (p.Leu803Phe)
n.2466A>T
c.2256A>T (p.Leu752Phe)
c.396A>T (p.Leu132Phe)
c.2370A>T (p.Leu790Phe)
n.3406A>T
18g.10784867T>CCA502893461PIEZO2c.2409A>G (p.Leu803=)
n.2466A>G
c.2256A>G (p.Leu752=)
c.396A>G (p.Leu132=)
c.2370A>G (p.Leu790=)
n.3406A>G
18g.10784867T>GCA401920359PIEZO2c.2409A>C (p.Leu803Phe)
n.2466A>C
c.2256A>C (p.Leu752Phe)
c.396A>C (p.Leu132Phe)
c.2370A>C (p.Leu790Phe)
n.3406A>C
18g.10784868A>CCA401920360PIEZO2c.2408T>G (p.Leu803Ter)
n.2465T>G
c.2255T>G (p.Leu752Ter)
c.395T>G (p.Leu132Ter)
c.2369T>G (p.Leu790Ter)
n.3405T>G
18g.10784868A>GCA401920361PIEZO2c.2408T>C (p.Leu803Ser)
n.2465T>C
c.2255T>C (p.Leu752Ser)
c.395T>C (p.Leu132Ser)
c.2369T>C (p.Leu790Ser)
n.3405T>C
18g.10784868A>TCA401920362PIEZO2c.2408T>A (p.Leu803Ter)
n.2465T>A
c.2255T>A (p.Leu752Ter)
c.395T>A (p.Leu132Ter)
c.2369T>A (p.Leu790Ter)
n.3405T>A
18g.10784869A>CCA401920363PIEZO2c.2407T>G (p.Leu803Val)
n.2464T>G
c.2254T>G (p.Leu752Val)
c.394T>G (p.Leu132Val)
c.2368T>G (p.Leu790Val)
n.3404T>G
18g.10784869A>GCA502893462PIEZO2c.2407T>C (p.Leu803=)
n.2464T>C
c.2254T>C (p.Leu752=)
c.394T>C (p.Leu132=)
c.2368T>C (p.Leu790=)
n.3404T>C
18g.10784869A>TCA401920364PIEZO2c.2407T>A (p.Leu803Ile)
n.2464T>A
c.2254T>A (p.Leu752Ile)
c.394T>A (p.Leu132Ile)
c.2368T>A (p.Leu790Ile)
n.3404T>A
18g.10784870A>CCA401920365PIEZO2c.2406T>G (p.Ile802Met)
n.2463T>G
c.2253T>G (p.Ile751Met)
c.393T>G (p.Ile131Met)
c.2367T>G (p.Ile789Met)
n.3403T>G
18g.10784870A>GCA502893463PIEZO2c.2406T>C (p.Ile802=)
n.2463T>C
c.2253T>C (p.Ile751=)
c.393T>C (p.Ile131=)
c.2367T>C (p.Ile789=)
n.3403T>C
18g.10784870A>TCA502893464PIEZO2c.2406T>A (p.Ile802=)
n.2463T>A
c.2253T>A (p.Ile751=)
c.393T>A (p.Ile131=)
c.2367T>A (p.Ile789=)
n.3403T>A
18g.10784871A>CCA401920366PIEZO2c.2405T>G (p.Ile802Ser)
n.2462T>G
c.2252T>G (p.Ile751Ser)
c.392T>G (p.Ile131Ser)
c.2366T>G (p.Ile789Ser)
n.3402T>G
18g.10784871A>GCA401920367PIEZO2c.2405T>C (p.Ile802Thr)
n.2462T>C
c.2252T>C (p.Ile751Thr)
c.392T>C (p.Ile131Thr)
c.2366T>C (p.Ile789Thr)
n.3402T>C
18g.10784871A>TCA401920368PIEZO2c.2405T>A (p.Ile802Asn)
n.2462T>A
c.2252T>A (p.Ile751Asn)
c.392T>A (p.Ile131Asn)
c.2366T>A (p.Ile789Asn)
n.3402T>A
18g.10784872T>ACA149687PIEZO2c.2404A>T (p.Ile802Phe)
n.2461A>T
c.2251A>T (p.Ile751Phe)
c.391A>T (p.Ile131Phe)
c.2365A>T (p.Ile789Phe)
n.3401A>T
 ClinVar dbSNP
18g.10784872T>CCA401920369PIEZO2c.2404A>G (p.Ile802Val)
n.2461A>G
c.2251A>G (p.Ile751Val)
c.391A>G (p.Ile131Val)
c.2365A>G (p.Ile789Val)
n.3401A>G
18g.10784872T>GCA401920370PIEZO2c.2404A>C (p.Ile802Leu)
n.2461A>C
c.2251A>C (p.Ile751Leu)
c.391A>C (p.Ile131Leu)
c.2365A>C (p.Ile789Leu)
n.3401A>C
18g.10784872T=CA2284463215PIEZO2c.2404A= (p.Ile802=)
n.2461A=
c.2251A= (p.Ile751=)
c.391A= (p.Ile131=)
c.2365A= (p.Ile789=)
n.3401A=
18g.10784873G>ACA502893465PIEZO2c.2403C>T (p.Cys801=)
n.2460C>T
c.2250C>T (p.Cys750=)
c.390C>T (p.Cys130=)
c.2364C>T (p.Cys788=)
n.3400C>T
18g.10784873G>CCA401920372PIEZO2c.2403C>G (p.Cys801Trp)
n.2460C>G
c.2250C>G (p.Cys750Trp)
c.390C>G (p.Cys130Trp)
c.2364C>G (p.Cys788Trp)
n.3400C>G
 gnomAD v4
18g.10784873G>TCA401920371PIEZO2c.2403C>A (p.Cys801Ter)
n.2460C>A
c.2250C>A (p.Cys750Ter)
c.390C>A (p.Cys130Ter)
c.2364C>A (p.Cys788Ter)
n.3400C>A
18g.10784874C>ACA401920373PIEZO2c.2402G>T (p.Cys801Phe)
n.2459G>T
c.2249G>T (p.Cys750Phe)
c.389G>T (p.Cys130Phe)
c.2363G>T (p.Cys788Phe)
n.3399G>T
18g.10784874C>GCA401920375PIEZO2c.2402G>C (p.Cys801Ser)
n.2459G>C
c.2249G>C (p.Cys750Ser)
c.389G>C (p.Cys130Ser)
c.2363G>C (p.Cys788Ser)
n.3399G>C
18g.10784874C>TCA401920374PIEZO2c.2402G>A (p.Cys801Tyr)
n.2459G>A
c.2249G>A (p.Cys750Tyr)
c.389G>A (p.Cys130Tyr)
c.2363G>A (p.Cys788Tyr)
n.3399G>A
18g.10784875A>CCA401920376PIEZO2c.2401T>G (p.Cys801Gly)
n.2458T>G
c.2248T>G (p.Cys750Gly)
c.388T>G (p.Cys130Gly)
c.2362T>G (p.Cys788Gly)
n.3398T>G
18g.10784875A>GCA401920377PIEZO2c.2401T>C (p.Cys801Arg)
n.2458T>C
c.2248T>C (p.Cys750Arg)
c.388T>C (p.Cys130Arg)
c.2362T>C (p.Cys788Arg)
n.3398T>C
18g.10784875A>TCA401920378PIEZO2c.2401T>A (p.Cys801Ser)
n.2458T>A
c.2248T>A (p.Cys750Ser)
c.388T>A (p.Cys130Ser)
c.2362T>A (p.Cys788Ser)
n.3398T>A
18g.10784876C>ACA502893467PIEZO2c.2400G>T (p.Val800=)
n.2457G>T
c.2247G>T (p.Val749=)
c.387G>T (p.Val129=)
c.2361G>T (p.Val787=)
n.3397G>T
18g.10784876C>GCA502893468PIEZO2c.2400G>C (p.Val800=)
n.2457G>C
c.2247G>C (p.Val749=)
c.387G>C (p.Val129=)
c.2361G>C (p.Val787=)
n.3397G>C
18g.10784876C>TCA502893469PIEZO2c.2400G>A (p.Val800=)
n.2457G>A
c.2247G>A (p.Val749=)
c.387G>A (p.Val129=)
c.2361G>A (p.Val787=)
n.3397G>A
 gnomAD v4
18g.10784877A>CCA401920379PIEZO2c.2399T>G (p.Val800Gly)
n.2456T>G
c.2246T>G (p.Val749Gly)
c.386T>G (p.Val129Gly)
c.2360T>G (p.Val787Gly)
n.3396T>G
18g.10784877A>GCA401920380PIEZO2c.2399T>C (p.Val800Ala)
n.2456T>C
c.2246T>C (p.Val749Ala)
c.386T>C (p.Val129Ala)
c.2360T>C (p.Val787Ala)
n.3396T>C
18g.10784877A>TCA401920381PIEZO2c.2399T>A (p.Val800Glu)
n.2456T>A
c.2246T>A (p.Val749Glu)
c.386T>A (p.Val129Glu)
c.2360T>A (p.Val787Glu)
n.3396T>A
18g.10784878C>ACA401920382PIEZO2c.2398G>T (p.Val800Leu)
n.2455G>T
c.2245G>T (p.Val749Leu)
c.385G>T (p.Val129Leu)
c.2359G>T (p.Val787Leu)
n.3395G>T
 ClinVar gnomAD v4
18g.10784878C=CA2284463216PIEZO2c.2398G= (p.Val800=)
n.2455G=
c.2245G= (p.Val749=)
c.385G= (p.Val129=)
c.2359G= (p.Val787=)
n.3395G=
18g.10784878C>GCA401920383PIEZO2c.2398G>C (p.Val800Leu)
n.2455G>C
c.2245G>C (p.Val749Leu)
c.385G>C (p.Val129Leu)
c.2359G>C (p.Val787Leu)
n.3395G>C
18g.10784878C>TCA401920384PIEZO2c.2398G>A (p.Val800Met)
n.2455G>A
c.2245G>A (p.Val749Met)
c.385G>A (p.Val129Met)
c.2359G>A (p.Val787Met)
n.3395G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10784879C>ACA502893472PIEZO2c.2397G>T (p.Leu799=)
n.2454G>T
c.2244G>T (p.Leu748=)
c.384G>T (p.Leu128=)
c.2358G>T (p.Leu786=)
n.3394G>T
18g.10784879C>GCA502893471PIEZO2c.2397G>C (p.Leu799=)
n.2454G>C
c.2244G>C (p.Leu748=)
c.384G>C (p.Leu128=)
c.2358G>C (p.Leu786=)
n.3394G>C
 gnomAD v4
18g.10784879C>TCA502893470PIEZO2c.2397G>A (p.Leu799=)
n.2454G>A
c.2244G>A (p.Leu748=)
c.384G>A (p.Leu128=)
c.2358G>A (p.Leu786=)
n.3394G>A
18g.10784880A>CCA401920385PIEZO2c.2396T>G (p.Leu799Arg)
n.2453T>G
c.2243T>G (p.Leu748Arg)
c.383T>G (p.Leu128Arg)
c.2357T>G (p.Leu786Arg)
n.3393T>G
18g.10784880A>GCA401920386PIEZO2c.2396T>C (p.Leu799Pro)
n.2453T>C
c.2243T>C (p.Leu748Pro)
c.383T>C (p.Leu128Pro)
c.2357T>C (p.Leu786Pro)
n.3393T>C
18g.10784880A>TCA401920387PIEZO2c.2396T>A (p.Leu799Gln)
n.2453T>A
c.2243T>A (p.Leu748Gln)
c.383T>A (p.Leu128Gln)
c.2357T>A (p.Leu786Gln)
n.3393T>A
18g.10784881G>ACA502893473PIEZO2c.2395C>T (p.Leu799=)
n.2452C>T
c.2242C>T (p.Leu748=)
c.382C>T (p.Leu128=)
c.2356C>T (p.Leu786=)
n.3392C>T
18g.10784881G>CCA401920388PIEZO2c.2395C>G (p.Leu799Val)
n.2452C>G
c.2242C>G (p.Leu748Val)
c.382C>G (p.Leu128Val)
c.2356C>G (p.Leu786Val)
n.3392C>G
18g.10784881G>TCA401920389PIEZO2c.2395C>A (p.Leu799Met)
n.2452C>A
c.2242C>A (p.Leu748Met)
c.382C>A (p.Leu128Met)
c.2356C>A (p.Leu786Met)
n.3392C>A
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

Number of alleles fetched