Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
18g.10784884G>ACA502893477PIEZO2c.2392C>T (p.Leu798=)
n.2449C>T
c.2239C>T (p.Leu747=)
c.379C>T (p.Leu127=)
c.2353C>T (p.Leu785=)
n.3389C>T
18g.10784884G>CCA401920393PIEZO2c.2392C>G (p.Leu798Val)
n.2449C>G
c.2239C>G (p.Leu747Val)
c.379C>G (p.Leu127Val)
c.2353C>G (p.Leu785Val)
n.3389C>G
18g.10784884G>TCA401920394PIEZO2c.2392C>A (p.Leu798Met)
n.2449C>A
c.2239C>A (p.Leu747Met)
c.379C>A (p.Leu127Met)
c.2353C>A (p.Leu785Met)
n.3389C>A
18g.10784885A>CCA401920395PIEZO2c.2391T>G (p.Phe797Leu)
n.2448T>G
c.2238T>G (p.Phe746Leu)
c.378T>G (p.Phe126Leu)
c.2352T>G (p.Phe784Leu)
n.3388T>G
18g.10784885A>GCA502893478PIEZO2c.2391T>C (p.Phe797=)
n.2448T>C
c.2238T>C (p.Phe746=)
c.378T>C (p.Phe126=)
c.2352T>C (p.Phe784=)
n.3388T>C
18g.10784885A>TCA401920396PIEZO2c.2391T>A (p.Phe797Leu)
n.2448T>A
c.2238T>A (p.Phe746Leu)
c.378T>A (p.Phe126Leu)
c.2352T>A (p.Phe784Leu)
n.3388T>A
18g.10784886A>CCA401920397PIEZO2c.2390T>G (p.Phe797Cys)
n.2447T>G
c.2237T>G (p.Phe746Cys)
c.377T>G (p.Phe126Cys)
c.2351T>G (p.Phe784Cys)
n.3387T>G
18g.10784886A>GCA401920398PIEZO2c.2390T>C (p.Phe797Ser)
n.2447T>C
c.2237T>C (p.Phe746Ser)
c.377T>C (p.Phe126Ser)
c.2351T>C (p.Phe784Ser)
n.3387T>C
18g.10784886A>TCA401920399PIEZO2c.2390T>A (p.Phe797Tyr)
n.2447T>A
c.2237T>A (p.Phe746Tyr)
c.377T>A (p.Phe126Tyr)
c.2351T>A (p.Phe784Tyr)
n.3387T>A
18g.10784887A>CCA401920400PIEZO2c.2389T>G (p.Phe797Val)
n.2446T>G
c.2236T>G (p.Phe746Val)
c.376T>G (p.Phe126Val)
c.2350T>G (p.Phe784Val)
n.3386T>G
18g.10784887A>GCA401920401PIEZO2c.2389T>C (p.Phe797Leu)
n.2446T>C
c.2236T>C (p.Phe746Leu)
c.376T>C (p.Phe126Leu)
c.2350T>C (p.Phe784Leu)
n.3386T>C

Number of alleles fetched