Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88733568G>CCA2634881077HSALR1,PIEZO1c.2487+20C>G (n.2487+20C>G)
n.269+2120G>C
gnomAD v4
16g.88733568G>TCA2511028031HSALR1,PIEZO1c.2487+20C>A (n.2487+20C>A)
n.269+2120G>T
16g.88733569A=CA2241261972HSALR1,PIEZO1c.2487+19T= (n.2487+19T=)
n.269+2121A=
16g.88733569A>CCA8232773HSALR1,PIEZO1c.2487+19T>G (n.2487+19T>G)
n.269+2121A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733570G>ACA286422528HSALR1,PIEZO1c.2487+18C>T (n.2487+18C>T)
n.269+2122G>A
dbSNP gnomAD v4
16g.88733570G>CCA624449427HSALR1,PIEZO1c.2487+18C>G (n.2487+18C>G)
n.269+2122G>C
dbSNP gnomAD v2 gnomAD v4
16g.88733570G=CA2241261973HSALR1,PIEZO1c.2487+18C= (n.2487+18C=)
n.269+2122G=
16g.88733572T>CCA2241261975HSALR1,PIEZO1c.2487+16A>G (n.2487+16A>G)
n.269+2124T>C
dbSNP
16g.88733572T=CA2241261974HSALR1,PIEZO1c.2487+16A= (n.2487+16A=)
n.269+2124T=
16g.88733573G>ACA624449428HSALR1,PIEZO1c.2487+15C>T (n.2487+15C>T)
n.269+2125G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733573G=CA2241261976HSALR1,PIEZO1c.2487+15C= (n.2487+15C=)
n.269+2125G=
16g.88733574C>ACA2634881078HSALR1,PIEZO1c.2487+14G>T (n.2487+14G>T)
n.269+2126C>A
gnomAD v4
16g.88733574C>TCA2634881079HSALR1,PIEZO1c.2487+14G>A (n.2487+14G>A)
n.269+2126C>T
gnomAD v4
16g.88733575C>TCA2634881080HSALR1,PIEZO1c.2487+13G>A (n.2487+13G>A)
n.269+2127C>T
gnomAD v4
16g.88733576T>CCA624449429HSALR1,PIEZO1c.2487+12A>G (n.2487+12A>G)
n.269+2128T>C
dbSNP gnomAD v2 gnomAD v4
16g.88733576T=CA2241261977HSALR1,PIEZO1c.2487+12A= (n.2487+12A=)
n.269+2128T=
16g.88733577G>ACA624449430HSALR1,PIEZO1c.2487+11C>T (n.2487+11C>T)
n.269+2129G>A
dbSNP gnomAD v2 gnomAD v4
16g.88733577G>CCA2634881081HSALR1,PIEZO1c.2487+11C>G (n.2487+11C>G)
n.269+2129G>C
gnomAD v4
16g.88733577G=CA2241261978HSALR1,PIEZO1c.2487+11C= (n.2487+11C=)
n.269+2129G=
16g.88733577G>TCA2241261979HSALR1,PIEZO1c.2487+11C>A (n.2487+11C>A)
n.269+2129G>T
dbSNP
16g.88733580A>CCA2634881082HSALR1,PIEZO1c.2487+8T>G (n.2487+8T>G)
n.269+2132A>C
gnomAD v4
16g.88733580A>GCA2634881083HSALR1,PIEZO1c.2487+8T>C (n.2487+8T>C)
n.269+2132A>G
gnomAD v4
16g.88733581C=CA2241261980HSALR1,PIEZO1c.2487+7G= (n.2487+7G=)
n.269+2133C=
16g.88733581C>GCA2241261981HSALR1,PIEZO1c.2487+7G>C (n.2487+7G>C)
n.269+2133C>G
dbSNP
16g.88733581C>TCA8232774HSALR1,PIEZO1c.2487+7G>A (n.2487+7G>A)
n.269+2133C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733582A>GCA2634881084HSALR1,PIEZO1c.2487+6T>C (n.2487+6T>C)
n.269+2134A>G
gnomAD v4
16g.88733584T>ACA2634881085HSALR1,PIEZO1c.2487+4A>T (n.2487+4A>T)
n.269+2136T>A
gnomAD v4
16g.88733584T>CCA286422557HSALR1,PIEZO1c.2487+4A>G (n.2487+4A>G)
n.269+2136T>C
dbSNP
16g.88733584T=CA2241261982HSALR1,PIEZO1c.2487+4A= (n.2487+4A=)
n.269+2136T=
16g.88733585C=CA2241261983HSALR1,PIEZO1c.2487+3G= (n.2487+3G=)
n.269+2137C=
16g.88733585C>TCA2241261984HSALR1,PIEZO1c.2487+3G>A (n.2487+3G>A)
n.269+2137C>T
dbSNP gnomAD v4
16g.88733586A>CCA397112006HSALR1,PIEZO1c.2487+2T>G (n.2487+2T>G)
n.269+2138A>C
16g.88733586A>GCA397112008HSALR1,PIEZO1c.2487+2T>C (n.2487+2T>C)
n.269+2138A>G
gnomAD v4
16g.88733586A>TCA397112010HSALR1,PIEZO1c.2487+2T>A (n.2487+2T>A)
n.269+2138A>T
16g.88733587C>ACA397112016HSALR1,PIEZO1c.2487+1G>T (n.2487+1G>T)
n.269+2139C>A
gnomAD v4
16g.88733587C=CA2241261985HSALR1,PIEZO1c.2487+1G= (n.2487+1G=)
n.269+2139C=
16g.88733587C>GCA397112014HSALR1,PIEZO1c.2487+1G>C (n.2487+1G>C)
n.269+2139C>G
16g.88733587C>TCA397112012HSALR1,PIEZO1c.2487+1G>A (n.2487+1G>A)
n.269+2139C>T
dbSNP
16g.88733588dupCA2634881086HSALR1,PIEZO1c.2487+1dup
n.269+2140dup
gnomAD v4
16g.88733590_88733592delCA645570844HSALR1,PIEZO1c.2486_2487+1del
n.269+2142_269+2144del
gnomAD v4 COSMIC
16g.88733588C>ACA397112017HSALR1,PIEZO1c.2487G>T (p.Glu829Asp)
n.269+2140C>A
16g.88733588C=CA2241261986HSALR1,PIEZO1c.2487G= (p.Glu829=)
n.269+2140C=
16g.88733588C>GCA397112019HSALR1,PIEZO1c.2487G>C (p.Glu829Asp)
n.269+2140C>G
dbSNP gnomAD v3 gnomAD v4
16g.88733588C>TCA497366372HSALR1,PIEZO1c.2487G>A (p.Glu829=)
n.269+2140C>T
16g.88733589T>ACA397112021HSALR1,PIEZO1c.2486A>T (p.Glu829Val)
n.269+2141T>A
dbSNP gnomAD v3 gnomAD v4
16g.88733589T>CCA397112022HSALR1,PIEZO1c.2486A>G (p.Glu829Gly)
n.269+2141T>C
16g.88733589T>GCA397112024HSALR1,PIEZO1c.2486A>C (p.Glu829Ala)
n.269+2141T>G
16g.88733589T=CA2241261987HSALR1,PIEZO1c.2486A= (p.Glu829=)
n.269+2141T=
16g.88733590C>ACA397112025HSALR1,PIEZO1c.2485G>T (p.Glu829Ter)
n.269+2142C>A
gnomAD v4
16g.88733590C=CA2241261988HSALR1,PIEZO1c.2485G= (p.Glu829=)
n.269+2142C=
16g.88733590C>GCA397112027HSALR1,PIEZO1c.2485G>C (p.Glu829Gln)
n.269+2142C>G
16g.88733590C>TCA397112029HSALR1,PIEZO1c.2485G>A (p.Glu829Lys)
n.269+2142C>T
dbSNP gnomAD v4
16g.88733591C>ACA397112030HSALR1,PIEZO1c.2484G>T (p.Lys828Asn)
n.269+2143C>A
16g.88733591C>GCA397112031HSALR1,PIEZO1c.2484G>C (p.Lys828Asn)
n.269+2143C>G
16g.88733591C>TCA497366383HSALR1,PIEZO1c.2484G>A (p.Lys828=)
n.269+2143C>T
gnomAD v4
16g.88733592T>ACA397112032HSALR1,PIEZO1c.2483A>T (p.Lys828Met)
n.269+2144T>A
16g.88733592T>CCA397112033HSALR1,PIEZO1c.2483A>G (p.Lys828Arg)
n.269+2144T>C
16g.88733592T>GCA286422564HSALR1,PIEZO1c.2483A>C (p.Lys828Thr)
n.269+2144T>G
dbSNP gnomAD v3 gnomAD v4
16g.88733592T=CA2241261989HSALR1,PIEZO1c.2483A= (p.Lys828=)
n.269+2144T=
16g.88733593T>ACA397112037HSALR1,PIEZO1c.2482A>T (p.Lys828Ter)
n.269+2145T>A
16g.88733593T>CCA397112038HSALR1,PIEZO1c.2482A>G (p.Lys828Glu)
n.269+2145T>C
gnomAD v4
16g.88733593T>GCA397112035HSALR1,PIEZO1c.2482A>C (p.Lys828Gln)
n.269+2145T>G
16g.88733593T=CA2241261990HSALR1,PIEZO1c.2482A= (p.Lys828=)
n.269+2145T=
16g.88733594C>ACA497366386HSALR1,PIEZO1c.2481G>T (p.Leu827=)
n.269+2146C>A
16g.88733594C=CA2241261991HSALR1,PIEZO1c.2481G= (p.Leu827=)
n.269+2146C=
16g.88733594C>GCA497366387HSALR1,PIEZO1c.2481G>C (p.Leu827=)
n.269+2146C>G
16g.88733594C>TCA497366388HSALR1,PIEZO1c.2481G>A (p.Leu827=)
n.269+2146C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733604_88733624dupCA919766380HSALR1,PIEZO1c.2461_2481dup (p.Leu827_Lys828insTyrThrValTrpValAlaLeu)
n.269+2156_269+2176dup
dbSNP gnomAD v4
16g.88733595A>CCA397112040HSALR1,PIEZO1c.2480T>G (p.Leu827Arg)
n.269+2147A>C
16g.88733595A>GCA397112043HSALR1,PIEZO1c.2480T>C (p.Leu827Pro)
n.269+2147A>G
16g.88733595A>TCA397112041HSALR1,PIEZO1c.2480T>A (p.Leu827Gln)
n.269+2147A>T
gnomAD v4
16g.88733596G>ACA286422570HSALR1,PIEZO1c.2479C>T (p.Leu827=)
n.269+2148G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733596G>CCA397112045HSALR1,PIEZO1c.2479C>G (p.Leu827Val)
n.269+2148G>C
gnomAD v4
16g.88733596G=CA2241261992HSALR1,PIEZO1c.2479C= (p.Leu827=)
n.269+2148G=
16g.88733596G>TCA397112046HSALR1,PIEZO1c.2479C>A (p.Leu827Met)
n.269+2148G>T
16g.88733597G>ACA286422575HSALR1,PIEZO1c.2478C>T (p.Ala826=)
n.269+2149G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733597G>CCA497366394HSALR1,PIEZO1c.2478C>G (p.Ala826=)
n.269+2149G>C
16g.88733597G=CA2241261993HSALR1,PIEZO1c.2478C= (p.Ala826=)
n.269+2149G=
16g.88733597G>TCA497366395HSALR1,PIEZO1c.2478C>A (p.Ala826=)
n.269+2149G>T
16g.88733598G>ACA397112047HSALR1,PIEZO1c.2477C>T (p.Ala826Val)
n.269+2150G>A
gnomAD v4
16g.88733598G>CCA397112049HSALR1,PIEZO1c.2477C>G (p.Ala826Gly)
n.269+2150G>C
16g.88733598G>TCA397112051HSALR1,PIEZO1c.2477C>A (p.Ala826Asp)
n.269+2150G>T
16g.88733599C>ACA397112053HSALR1,PIEZO1c.2476G>T (p.Ala826Ser)
n.269+2151C>A
gnomAD v4
16g.88733599C>GCA397112054HSALR1,PIEZO1c.2476G>C (p.Ala826Pro)
n.269+2151C>G
16g.88733599C>TCA397112055HSALR1,PIEZO1c.2476G>A (p.Ala826Thr)
n.269+2151C>T
ClinVar gnomAD v4
16g.88733600C>ACA497366399HSALR1,PIEZO1c.2475G>T (p.Val825=)
n.269+2152C>A
16g.88733600C=CA2241261994HSALR1,PIEZO1c.2475G= (p.Val825=)
n.269+2152C=
16g.88733600C>GCA497366401HSALR1,PIEZO1c.2475G>C (p.Val825=)
n.269+2152C>G
16g.88733600C>TCA497366405HSALR1,PIEZO1c.2475G>A (p.Val825=)
n.269+2152C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733601A>CCA397112056HSALR1,PIEZO1c.2474T>G (p.Val825Gly)
n.269+2153A>C
gnomAD v4
16g.88733601A>GCA397112057HSALR1,PIEZO1c.2474T>C (p.Val825Ala)
n.269+2153A>G
16g.88733601A>TCA397112059HSALR1,PIEZO1c.2474T>A (p.Val825Glu)
n.269+2153A>T
16g.88733602C>ACA397112060HSALR1,PIEZO1c.2473G>T (p.Val825Leu)
n.269+2154C>A
16g.88733602C>GCA397112062HSALR1,PIEZO1c.2473G>C (p.Val825Leu)
n.269+2154C>G
16g.88733602C>TCA397112063HSALR1,PIEZO1c.2473G>A (p.Val825Met)
n.269+2154C>T
16g.88733603C>ACA397112064HSALR1,PIEZO1c.2472G>T (p.Trp824Cys)
n.269+2155C>A
dbSNP gnomAD v4
16g.88733603C=CA2241261995HSALR1,PIEZO1c.2472G= (p.Trp824=)
n.269+2155C=
16g.88733603C>GCA397112066HSALR1,PIEZO1c.2472G>C (p.Trp824Cys)
n.269+2155C>G
16g.88733603C>TCA397112065HSALR1,PIEZO1c.2472G>A (p.Trp824Ter)
n.269+2155C>T
16g.88733604C>ACA397112067HSALR1,PIEZO1c.2471G>T (p.Trp824Leu)
n.269+2156C>A
gnomAD v4
16g.88733604C>GCA397112069HSALR1,PIEZO1c.2471G>C (p.Trp824Ser)
n.269+2156C>G
gnomAD v4
16g.88733604C>TCA397112070HSALR1,PIEZO1c.2471G>A (p.Trp824Ter)
n.269+2156C>T
16g.88733605A>CCA397112072HSALR1,PIEZO1c.2470T>G (p.Trp824Gly)
n.269+2157A>C
16g.88733605A>GCA397112073HSALR1,PIEZO1c.2470T>C (p.Trp824Arg)
n.269+2157A>G
gnomAD v4
16g.88733605A>TCA397112074HSALR1,PIEZO1c.2470T>A (p.Trp824Arg)
n.269+2157A>T
16g.88733606G>ACA286422576HSALR1,PIEZO1c.2469C>T (p.Val823=)
n.269+2158G>A
ClinVar dbSNP gnomAD v4
16g.88733606G>CCA286422577HSALR1,PIEZO1c.2469C>G (p.Val823=)
n.269+2158G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733606G=CA2241261996HSALR1,PIEZO1c.2469C= (p.Val823=)
n.269+2158G=
16g.88733606G>TCA497366413HSALR1,PIEZO1c.2469C>A (p.Val823=)
n.269+2158G>T
16g.88733607A=CA2241261997HSALR1,PIEZO1c.2468T= (p.Val823=)
n.269+2159A=
16g.88733607A>CCA397112077HSALR1,PIEZO1c.2468T>G (p.Val823Gly)
n.269+2159A>C
16g.88733607A>GCA397112078HSALR1,PIEZO1c.2468T>C (p.Val823Ala)
n.269+2159A>G
dbSNP gnomAD v3 gnomAD v4
16g.88733607A>TCA397112079HSALR1,PIEZO1c.2468T>A (p.Val823Asp)
n.269+2159A>T
16g.88733608C>ACA397112082HSALR1,PIEZO1c.2467G>T (p.Val823Phe)
n.269+2160C>A
16g.88733608C=CA2241261998HSALR1,PIEZO1c.2467G= (p.Val823=)
n.269+2160C=
16g.88733608C>GCA397112084HSALR1,PIEZO1c.2467G>C (p.Val823Leu)
n.269+2160C>G
16g.88733608C>TCA286422579HSALR1,PIEZO1c.2467G>A (p.Val823Ile)
n.269+2160C>T
dbSNP gnomAD v4
16g.88733609G>ACA8232775HSALR1,PIEZO1c.2466C>T (p.Thr822=)
n.269+2161G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733609G>CCA497366418HSALR1,PIEZO1c.2466C>G (p.Thr822=)
n.269+2161G>C
dbSNP gnomAD v3 gnomAD v4
16g.88733609G=CA2241261999HSALR1,PIEZO1c.2466C= (p.Thr822=)
n.269+2161G=
16g.88733609G>TCA497366417HSALR1,PIEZO1c.2466C>A (p.Thr822=)
n.269+2161G>T
gnomAD v4
16g.88733610G>ACA8232776HSALR1,PIEZO1c.2465C>T (p.Thr822Ile)
n.269+2162G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733610G>CCA397112085HSALR1,PIEZO1c.2465C>G (p.Thr822Ser)
n.269+2162G>C
16g.88733610G=CA2241262000HSALR1,PIEZO1c.2465C= (p.Thr822=)
n.269+2162G=
16g.88733610G>TCA397112086HSALR1,PIEZO1c.2465C>A (p.Thr822Asn)
n.269+2162G>T
gnomAD v4
16g.88733611T>ACA397112091HSALR1,PIEZO1c.2464A>T (p.Thr822Ser)
n.269+2163T>A
16g.88733611T>CCA397112089HSALR1,PIEZO1c.2464A>G (p.Thr822Ala)
n.269+2163T>C
dbSNP gnomAD v4
16g.88733611T>GCA397112088HSALR1,PIEZO1c.2464A>C (p.Thr822Pro)
n.269+2163T>G
16g.88733611T=CA2241262001HSALR1,PIEZO1c.2464A= (p.Thr822=)
n.269+2163T=
16g.88733612G>ACA286422587HSALR1,PIEZO1c.2463C>T (p.Tyr821=)
n.269+2164G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733612G>CCA397112093HSALR1,PIEZO1c.2463C>G (p.Tyr821Ter)
n.269+2164G>C
16g.88733612G=CA2241262002HSALR1,PIEZO1c.2463C= (p.Tyr821=)
n.269+2164G=
16g.88733612G>TCA397112094HSALR1,PIEZO1c.2463C>A (p.Tyr821Ter)
n.269+2164G>T
16g.88733613T>ACA397112096HSALR1,PIEZO1c.2462A>T (p.Tyr821Phe)
n.269+2165T>A
dbSNP
16g.88733613T>CCA397112098HSALR1,PIEZO1c.2462A>G (p.Tyr821Cys)
n.269+2165T>C
16g.88733613T>GCA397112099HSALR1,PIEZO1c.2462A>C (p.Tyr821Ser)
n.269+2165T>G
16g.88733613T=CA2241262003HSALR1,PIEZO1c.2462A= (p.Tyr821=)
n.269+2165T=
16g.88733614A>CCA397112100HSALR1,PIEZO1c.2461T>G (p.Tyr821Asp)
n.269+2166A>C
16g.88733614A>GCA397112104HSALR1,PIEZO1c.2461T>C (p.Tyr821His)
n.269+2166A>G
16g.88733614A>TCA397112102HSALR1,PIEZO1c.2461T>A (p.Tyr821Asn)
n.269+2166A>T
16g.88733615C>ACA497366438HSALR1,PIEZO1c.2460G>T (p.Leu820=)
n.269+2167C>A
16g.88733615C=CA2241262004HSALR1,PIEZO1c.2460G= (p.Leu820=)
n.269+2167C=
16g.88733615C>GCA497366439HSALR1,PIEZO1c.2460G>C (p.Leu820=)
n.269+2167C>G
gnomAD v4
16g.88733615C>TCA497366440HSALR1,PIEZO1c.2460G>A (p.Leu820=)
n.269+2167C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733616A>CCA397112106HSALR1,PIEZO1c.2459T>G (p.Leu820Arg)
n.269+2168A>C
16g.88733616A>GCA397112107HSALR1,PIEZO1c.2459T>C (p.Leu820Pro)
n.269+2168A>G
16g.88733616A>TCA397112108HSALR1,PIEZO1c.2459T>A (p.Leu820Gln)
n.269+2168A>T
16g.88733617G>ACA497366442HSALR1,PIEZO1c.2458C>T (p.Leu820=)
n.269+2169G>A
16g.88733617G>CCA397112110HSALR1,PIEZO1c.2458C>G (p.Leu820Val)
n.269+2169G>C
gnomAD v4
16g.88733617G>TCA397112112HSALR1,PIEZO1c.2458C>A (p.Leu820Met)
n.269+2169G>T
16g.88733618G>ACA497366443HSALR1,PIEZO1c.2457C>T (p.Ala819=)
n.269+2170G>A
16g.88733618G>CCA497366444HSALR1,PIEZO1c.2457C>G (p.Ala819=)
n.269+2170G>C
16g.88733618G=CA2241262005HSALR1,PIEZO1c.2457C= (p.Ala819=)
n.269+2170G=
16g.88733618G>TCA286422593HSALR1,PIEZO1c.2457C>A (p.Ala819=)
n.269+2170G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733619G>ACA397112113HSALR1,PIEZO1c.2456C>T (p.Ala819Val)
n.269+2171G>A
gnomAD v4
16g.88733619G>CCA286422640HSALR1,PIEZO1c.2456C>G (p.Ala819Gly)
n.269+2171G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733619G=CA2241262006HSALR1,PIEZO1c.2456C= (p.Ala819=)
n.269+2171G=
16g.88733619G>TCA397112115HSALR1,PIEZO1c.2456C>A (p.Ala819Asp)
n.269+2171G>T
gnomAD v4
16g.88733620C>ACA397112118HSALR1,PIEZO1c.2455G>T (p.Ala819Ser)
n.269+2172C>A
16g.88733620C=CA2241262007HSALR1,PIEZO1c.2455G= (p.Ala819=)
n.269+2172C=
16g.88733620C>GCA397112119HSALR1,PIEZO1c.2455G>C (p.Ala819Pro)
n.269+2172C>G
16g.88733620C>TCA286422664HSALR1,PIEZO1c.2455G>A (p.Ala819Thr)
n.269+2172C>T
dbSNP gnomAD v4
16g.88733621C>ACA497366458HSALR1,PIEZO1c.2454G>T (p.Val818=)
n.269+2173C>A
16g.88733621C>GCA497366459HSALR1,PIEZO1c.2454G>C (p.Val818=)
n.269+2173C>G
16g.88733621C>TCA497366460HSALR1,PIEZO1c.2454G>A (p.Val818=)
n.269+2173C>T
16g.88733622A=CA2241262008HSALR1,PIEZO1c.2453T= (p.Val818=)
n.269+2174A=
16g.88733622A>CCA397112124HSALR1,PIEZO1c.2453T>G (p.Val818Gly)
n.269+2174A>C
16g.88733622A>GCA397112122HSALR1,PIEZO1c.2453T>C (p.Val818Ala)
n.269+2174A>G
gnomAD v4
16g.88733622A>TCA286422670HSALR1,PIEZO1c.2453T>A (p.Val818Glu)
n.269+2174A>T
dbSNP
16g.88733623C>ACA397112126HSALR1,PIEZO1c.2452G>T (p.Val818Leu)
n.269+2175C>A
16g.88733623C=CA2241262009HSALR1,PIEZO1c.2452G= (p.Val818=)
n.269+2175C=
16g.88733623C>GCA397112129HSALR1,PIEZO1c.2452G>C (p.Val818Leu)
n.269+2175C>G
dbSNP
16g.88733623C>TCA397112128HSALR1,PIEZO1c.2452G>A (p.Val818Met)
n.269+2175C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733624C>ACA497366474HSALR1,PIEZO1c.2451G>T (p.Leu817=)
n.269+2176C>A
16g.88733624C=CA2241262010HSALR1,PIEZO1c.2451G= (p.Leu817=)
n.269+2176C=
16g.88733624C>GCA8232777HSALR1,PIEZO1c.2451G>C (p.Leu817=)
n.269+2176C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733624C>TCA497366473HSALR1,PIEZO1c.2451G>A (p.Leu817=)
n.269+2176C>T
16g.88733625A>CCA397112131HSALR1,PIEZO1c.2450T>G (p.Leu817Arg)
n.269+2177A>C
16g.88733625A>GCA397112132HSALR1,PIEZO1c.2450T>C (p.Leu817Pro)
n.269+2177A>G
16g.88733625A>TCA397112133HSALR1,PIEZO1c.2450T>A (p.Leu817Gln)
n.269+2177A>T
16g.88733626G>ACA497366478HSALR1,PIEZO1c.2449C>T (p.Leu817=)
n.269+2178G>A
dbSNP gnomAD v4
16g.88733626G>CCA286422682HSALR1,PIEZO1c.2449C>G (p.Leu817Val)
n.269+2178G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733626G=CA2241262011HSALR1,PIEZO1c.2449C= (p.Leu817=)
n.269+2178G=
16g.88733626G>TCA397112135HSALR1,PIEZO1c.2449C>A (p.Leu817Met)
n.269+2178G>T
16g.88733627C>ACA397112137HSALR1,PIEZO1c.2448G>T (p.Lys816Asn)
n.269+2179C>A
16g.88733627C>GCA397112139HSALR1,PIEZO1c.2448G>C (p.Lys816Asn)
n.269+2179C>G
16g.88733627C>TCA497366479HSALR1,PIEZO1c.2448G>A (p.Lys816=)
n.269+2179C>T
gnomAD v4
16g.88733628T>ACA397112140HSALR1,PIEZO1c.2447A>T (p.Lys816Met)
n.269+2180T>A
16g.88733628T>CCA397112142HSALR1,PIEZO1c.2447A>G (p.Lys816Arg)
n.269+2180T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733628T>GCA397112144HSALR1,PIEZO1c.2447A>C (p.Lys816Thr)
n.269+2180T>G
gnomAD v4
16g.88733628T=CA2241262012HSALR1,PIEZO1c.2447A= (p.Lys816=)
n.269+2180T=
16g.88733629T>ACA397112149HSALR1,PIEZO1c.2446A>T (p.Lys816Ter)
n.269+2181T>A
16g.88733629T>CCA397112147HSALR1,PIEZO1c.2446A>G (p.Lys816Glu)
n.269+2181T>C
16g.88733629T>GCA397112146HSALR1,PIEZO1c.2446A>C (p.Lys816Gln)
n.269+2181T>G
16g.88733630G>ACA497366486HSALR1,PIEZO1c.2445C>T (p.Phe815=)
n.269+2182G>A
gnomAD v4
16g.88733630G>CCA397112150HSALR1,PIEZO1c.2445C>G (p.Phe815Leu)
n.269+2182G>C
ClinVar gnomAD v4
16g.88733630G>TCA397112152HSALR1,PIEZO1c.2445C>A (p.Phe815Leu)
n.269+2182G>T
16g.88733631A=CA2241262013HSALR1,PIEZO1c.2444T= (p.Phe815=)
n.269+2183A=
16g.88733631A>CCA286422683HSALR1,PIEZO1c.2444T>G (p.Phe815Cys)
n.269+2183A>C
dbSNP gnomAD v4
16g.88733631A>GCA397112153HSALR1,PIEZO1c.2444T>C (p.Phe815Ser)
n.269+2183A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733631A>TCA397112155HSALR1,PIEZO1c.2444T>A (p.Phe815Tyr)
n.269+2183A>T
16g.88733632A>CCA397112157HSALR1,PIEZO1c.2443T>G (p.Phe815Val)
n.269+2184A>C
gnomAD v4
16g.88733632A>GCA397112159HSALR1,PIEZO1c.2443T>C (p.Phe815Leu)
n.269+2184A>G
16g.88733632A>TCA397112160HSALR1,PIEZO1c.2443T>A (p.Phe815Ile)
n.269+2184A>T
16g.88733633A>CCA497366491HSALR1,PIEZO1c.2442T>G (p.Val814=)
n.269+2185A>C
16g.88733633A>GCA497366492HSALR1,PIEZO1c.2442T>C (p.Val814=)
n.269+2185A>G
16g.88733633A>TCA497366493HSALR1,PIEZO1c.2442T>A (p.Val814=)
n.269+2185A>T
16g.88733634A>CCA397112161HSALR1,PIEZO1c.2441T>G (p.Val814Gly)
n.269+2186A>C
16g.88733634A>GCA397112163HSALR1,PIEZO1c.2441T>C (p.Val814Ala)
n.269+2186A>G
16g.88733634A>TCA397112165HSALR1,PIEZO1c.2441T>A (p.Val814Asp)
n.269+2186A>T
16g.88733635C>ACA397112168HSALR1,PIEZO1c.2440G>T (p.Val814Phe)
n.269+2187C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733635C=CA2241262014HSALR1,PIEZO1c.2440G= (p.Val814=)
n.269+2187C=
16g.88733635C>GCA397112167HSALR1,PIEZO1c.2440G>C (p.Val814Leu)
n.269+2187C>G
gnomAD v4
16g.88733635C>TCA8232778HSALR1,PIEZO1c.2440G>A (p.Val814Ile)
n.269+2187C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733636G>ACA8232779HSALR1,PIEZO1c.2439C>T (p.His813=)
n.269+2188G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733636G>CCA397112171HSALR1,PIEZO1c.2439C>G (p.His813Gln)
n.269+2188G>C
16g.88733636G=CA2241262015HSALR1,PIEZO1c.2439C= (p.His813=)
n.269+2188G=
16g.88733636G>TCA286422691HSALR1,PIEZO1c.2439C>A (p.His813Gln)
n.269+2188G>T
dbSNP gnomAD v2 gnomAD v4
16g.88733637T>ACA397112174HSALR1,PIEZO1c.2438A>T (p.His813Leu)
n.269+2189T>A
16g.88733637T>CCA397112175HSALR1,PIEZO1c.2438A>G (p.His813Arg)
n.269+2189T>C
16g.88733637T>GCA397112177HSALR1,PIEZO1c.2438A>C (p.His813Pro)
n.269+2189T>G
16g.88733638G>ACA397112178HSALR1,PIEZO1c.2437C>T (p.His813Tyr)
n.269+2190G>A
gnomAD v4
16g.88733638G>CCA397112179HSALR1,PIEZO1c.2437C>G (p.His813Asp)
n.269+2190G>C
16g.88733638G>TCA397112180HSALR1,PIEZO1c.2437C>A (p.His813Asn)
n.269+2190G>T
16g.88733639A=CA2241262016HSALR1,PIEZO1c.2436T= (p.Leu812=)
n.269+2191A=
16g.88733639A>CCA497366496HSALR1,PIEZO1c.2436T>G (p.Leu812=)
n.269+2191A>C
dbSNP gnomAD v2 gnomAD v4
16g.88733639A>GCA497366497HSALR1,PIEZO1c.2436T>C (p.Leu812=)
n.269+2191A>G
16g.88733639A>TCA497366498HSALR1,PIEZO1c.2436T>A (p.Leu812=)
n.269+2191A>T
16g.88733640A>CCA397112181HSALR1,PIEZO1c.2435T>G (p.Leu812Arg)
n.269+2192A>C
16g.88733640A>GCA397112182HSALR1,PIEZO1c.2435T>C (p.Leu812Pro)
n.269+2192A>G
16g.88733640A>TCA397112183HSALR1,PIEZO1c.2435T>A (p.Leu812His)
n.269+2192A>T
16g.88733641G>ACA397112187HSALR1,PIEZO1c.2434C>T (p.Leu812Phe)
n.269+2193G>A
dbSNP gnomAD v4
16g.88733641G>CCA397112185HSALR1,PIEZO1c.2434C>G (p.Leu812Val)
n.269+2193G>C
16g.88733641G=CA2241262017HSALR1,PIEZO1c.2434C= (p.Leu812=)
n.269+2193G=
16g.88733641G>TCA397112184HSALR1,PIEZO1c.2434C>A (p.Leu812Ile)
n.269+2193G>T
16g.88733642C>ACA397112189HSALR1,PIEZO1c.2433G>T (p.Glu811Asp)
n.269+2194C>A
16g.88733642C=CA2241262018HSALR1,PIEZO1c.2433G= (p.Glu811=)
n.269+2194C=
16g.88733642C>GCA397112191HSALR1,PIEZO1c.2433G>C (p.Glu811Asp)
n.269+2194C>G
16g.88733642C>TCA497366500HSALR1,PIEZO1c.2433G>A (p.Glu811=)
n.269+2194C>T
dbSNP gnomAD v4
16g.88733643T>ACA397112192HSALR1,PIEZO1c.2432A>T (p.Glu811Val)
n.269+2195T>A
16g.88733643T>CCA286422708HSALR1,PIEZO1c.2432A>G (p.Glu811Gly)
n.269+2195T>C
dbSNP
16g.88733643T>GCA397112194HSALR1,PIEZO1c.2432A>C (p.Glu811Ala)
n.269+2195T>G
16g.88733643T=CA2241262019HSALR1,PIEZO1c.2432A= (p.Glu811=)
n.269+2195T=
16g.88733644C>ACA16620293HSALR1,PIEZO1c.2431G>T (p.Glu811Ter)
n.269+2196C>A
ClinVar dbSNP
16g.88733644C=CA2241262020HSALR1,PIEZO1c.2431G= (p.Glu811=)
n.269+2196C=
16g.88733644C>GCA397112196HSALR1,PIEZO1c.2431G>C (p.Glu811Gln)
n.269+2196C>G
gnomAD v4
16g.88733644C>TCA397112197HSALR1,PIEZO1c.2431G>A (p.Glu811Lys)
n.269+2196C>T
16g.88733645C>ACA497366504HSALR1,PIEZO1c.2430G>T (p.Leu810=)
n.269+2197C>A
dbSNP gnomAD v3 gnomAD v4
16g.88733645C=CA2241262021HSALR1,PIEZO1c.2430G= (p.Leu810=)
n.269+2197C=
16g.88733645C>GCA497366506HSALR1,PIEZO1c.2430G>C (p.Leu810=)
n.269+2197C>G
16g.88733645C>TCA497366507HSALR1,PIEZO1c.2430G>A (p.Leu810=)
n.269+2197C>T
dbSNP COSMIC
16g.88733646A=CA2241262022HSALR1,PIEZO1c.2429T= (p.Leu810=)
n.269+2198A=
16g.88733646A>CCA397112199HSALR1,PIEZO1c.2429T>G (p.Leu810Arg)
n.269+2198A>C
16g.88733646A>GCA397112201HSALR1,PIEZO1c.2429T>C (p.Leu810Pro)
n.269+2198A>G
dbSNP gnomAD v3 gnomAD v4
16g.88733646A>TCA397112203HSALR1,PIEZO1c.2429T>A (p.Leu810Gln)
n.269+2198A>T
16g.88733647G>ACA497366508HSALR1,PIEZO1c.2428C>T (p.Leu810=)
n.269+2199G>A
dbSNP gnomAD v4
16g.88733647G>CCA397112204HSALR1,PIEZO1c.2428C>G (p.Leu810Val)
n.269+2199G>C
16g.88733647G=CA2241262023HSALR1,PIEZO1c.2428C= (p.Leu810=)
n.269+2199G=
16g.88733647G>TCA397112206HSALR1,PIEZO1c.2428C>A (p.Leu810Met)
n.269+2199G>T
16g.88733648C>ACA497366510HSALR1,PIEZO1c.2427G>T (p.Leu809=)
n.269+2200C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733648C=CA2241262024HSALR1,PIEZO1c.2427G= (p.Leu809=)
n.269+2200C=
16g.88733648C>GCA497366517HSALR1,PIEZO1c.2427G>C (p.Leu809=)
n.269+2200C>G
16g.88733648C>TCA497366512HSALR1,PIEZO1c.2427G>A (p.Leu809=)
n.269+2200C>T
16g.88733649A>CCA397112209HSALR1,PIEZO1c.2426T>G (p.Leu809Arg)
n.269+2201A>C
gnomAD v4
16g.88733649A>GCA397112211HSALR1,PIEZO1c.2426T>C (p.Leu809Pro)
n.269+2201A>G
16g.88733649A>TCA397112208HSALR1,PIEZO1c.2426T>A (p.Leu809Gln)
n.269+2201A>T
16g.88733650G>ACA497366521HSALR1,PIEZO1c.2425C>T (p.Leu809=)
n.269+2202G>A
16g.88733650G>CCA397112215HSALR1,PIEZO1c.2425C>G (p.Leu809Val)
n.269+2202G>C
gnomAD v4
16g.88733650G>TCA397112213HSALR1,PIEZO1c.2425C>A (p.Leu809Met)
n.269+2202G>T
16g.88733651C>ACA497366527HSALR1,PIEZO1c.2424G>T (p.Arg808=)
n.269+2203C>A
gnomAD v4
16g.88733651C=CA2241262025HSALR1,PIEZO1c.2424G= (p.Arg808=)
n.269+2203C=
16g.88733651C>GCA497366528HSALR1,PIEZO1c.2424G>C (p.Arg808=)
n.269+2203C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733651C>TCA497366529HSALR1,PIEZO1c.2424G>A (p.Arg808=)
n.269+2203C>T
gnomAD v4
16g.88733652C>ACA397112218HSALR1,PIEZO1c.2423G>T (p.Arg808Leu)
n.269+2204C>A
dbSNP gnomAD v4
16g.88733652C=CA2241262026HSALR1,PIEZO1c.2423G= (p.Arg808=)
n.269+2204C=
16g.88733652C>GCA397112217HSALR1,PIEZO1c.2423G>C (p.Arg808Pro)
n.269+2204C>G
16g.88733652C>TCA082797HSALR1,PIEZO1c.2423G>A (p.Arg808Gln)
n.269+2204C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.[88733652C>T;88733731C>T;88734844G>C]CA082799HSALR1,PIEZO1c.[1848+31C>G;2344G>A;2423G>A] (p.[Gly782Ser;Arg808Gln])
n.[269+2204C>T;269+2283C>T;270-2977G>C]
16g.88733653G>ACA8232780HSALR1,PIEZO1c.2422C>T (p.Arg808Trp)
n.269+2205G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733653G>CCA397112220HSALR1,PIEZO1c.2422C>G (p.Arg808Gly)
n.269+2205G>C
gnomAD v4
16g.88733653G=CA2241262027HSALR1,PIEZO1c.2422C= (p.Arg808=)
n.269+2205G=
16g.88733653G>TCA497366534HSALR1,PIEZO1c.2422C>A (p.Arg808=)
n.269+2205G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733654C>ACA497366535HSALR1,PIEZO1c.2421G>T (p.Arg807=)
n.269+2206C>A
16g.88733654C=CA2241262028HSALR1,PIEZO1c.2421G= (p.Arg807=)
n.269+2206C=
16g.88733654C>GCA8232781HSALR1,PIEZO1c.2421G>C (p.Arg807=)
n.269+2206C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733654C>TCA497366536HSALR1,PIEZO1c.2421G>A (p.Arg807=)
n.269+2206C>T
gnomAD v4
16g.88733655C>ACA397112223HSALR1,PIEZO1c.2420G>T (p.Arg807Leu)
n.269+2207C>A
gnomAD v4
16g.88733655C=CA2241262029HSALR1,PIEZO1c.2420G= (p.Arg807=)
n.269+2207C=
16g.88733655C>GCA397112224HSALR1,PIEZO1c.2420G>C (p.Arg807Pro)
n.269+2207C>G
16g.88733655C>TCA16620294HSALR1,PIEZO1c.2420G>A (p.Arg807Gln)
n.269+2207C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733656G>ACA8232782HSALR1,PIEZO1c.2419C>T (p.Arg807Trp)
n.269+2208G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733656G>CCA397112225HSALR1,PIEZO1c.2419C>G (p.Arg807Gly)
n.269+2208G>C
gnomAD v4
16g.88733656G=CA2241262030HSALR1,PIEZO1c.2419C= (p.Arg807=)
n.269+2208G=
16g.88733656G>TCA497366538HSALR1,PIEZO1c.2419C>A (p.Arg807=)
n.269+2208G>T
16g.88733657C>ACA497366542HSALR1,PIEZO1c.2418G>T (p.Leu806=)
n.269+2209C>A
16g.88733657C>GCA497366540HSALR1,PIEZO1c.2418G>C (p.Leu806=)
n.269+2209C>G
16g.88733657C>TCA497366539HSALR1,PIEZO1c.2418G>A (p.Leu806=)
n.269+2209C>T
16g.88733658A>CCA397112226HSALR1,PIEZO1c.2417T>G (p.Leu806Arg)
n.269+2210A>C
16g.88733658A>GCA397112227HSALR1,PIEZO1c.2417T>C (p.Leu806Pro)
n.269+2210A>G
16g.88733658A>TCA397112229HSALR1,PIEZO1c.2417T>A (p.Leu806Gln)
n.269+2210A>T
16g.88733658_88733659delinsAGCA2241262031HSALR1,PIEZO1c.2416_2417delinsCT (p.Leu806=)
n.269+2210_269+2211delinsAG
16g.88733659G>ACA497366543HSALR1,PIEZO1c.2416C>T (p.Leu806=)
n.269+2211G>A
dbSNP gnomAD v2 gnomAD v4
16g.88733659G>CCA397112233HSALR1,PIEZO1c.2416C>G (p.Leu806Val)
n.269+2211G>C
16g.88733659G=CA2241262032HSALR1,PIEZO1c.2416C= (p.Leu806=)
n.269+2211G=
16g.88733659G>TCA397112231HSALR1,PIEZO1c.2416C>A (p.Leu806Met)
n.269+2211G>T
dbSNP gnomAD v2 gnomAD v4
16g.88733660delCA725646820HSALR1,PIEZO1c.2416del (p.Leu806CysfsTer22)
n.269+2212del
dbSNP gnomAD v4
16g.88733660G>ACA286422759HSALR1,PIEZO1c.2415C>T (p.Phe805=)
n.269+2212G>A
ClinVar dbSNP gnomAD v4
16g.88733660G>CCA397112235HSALR1,PIEZO1c.2415C>G (p.Phe805Leu)
n.269+2212G>C
gnomAD v4
16g.88733660G=CA2241262033HSALR1,PIEZO1c.2415C= (p.Phe805=)
n.269+2212G=
16g.88733660G>TCA397112237HSALR1,PIEZO1c.2415C>A (p.Phe805Leu)
n.269+2212G>T
ClinVar
16g.88733661A>CCA397112239HSALR1,PIEZO1c.2414T>G (p.Phe805Cys)
n.269+2213A>C
16g.88733661A>GCA397112241HSALR1,PIEZO1c.2414T>C (p.Phe805Ser)
n.269+2213A>G
16g.88733661A>TCA397112242HSALR1,PIEZO1c.2414T>A (p.Phe805Tyr)
n.269+2213A>T
16g.88733662A>CCA397112243HSALR1,PIEZO1c.2413T>G (p.Phe805Val)
n.269+2214A>C
gnomAD v4
16g.88733662A>GCA397112245HSALR1,PIEZO1c.2413T>C (p.Phe805Leu)
n.269+2214A>G
16g.88733662A>TCA397112247HSALR1,PIEZO1c.2413T>A (p.Phe805Ile)
n.269+2214A>T
16g.88733663C>ACA497366553HSALR1,PIEZO1c.2412G>T (p.Val804=)
n.269+2215C>A
16g.88733663C>GCA497366554HSALR1,PIEZO1c.2412G>C (p.Val804=)
n.269+2215C>G
16g.88733663C>TCA497366555HSALR1,PIEZO1c.2412G>A (p.Val804=)
n.269+2215C>T
gnomAD v4
16g.88733664A=CA2241262034HSALR1,PIEZO1c.2411T= (p.Val804=)
n.269+2216A=
16g.88733664A>CCA397112248HSALR1,PIEZO1c.2411T>G (p.Val804Gly)
n.269+2216A>C
16g.88733664A>GCA397112250HSALR1,PIEZO1c.2411T>C (p.Val804Ala)
n.269+2216A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733664A>TCA397112251HSALR1,PIEZO1c.2411T>A (p.Val804Glu)
n.269+2216A>T
dbSNP gnomAD v3 gnomAD v4
16g.88733665C>ACA397112261HSALR1,PIEZO1c.2410G>T (p.Val804Leu)
n.269+2217C>A
16g.88733665C=CA2241262035HSALR1,PIEZO1c.2410G= (p.Val804=)
n.269+2217C=
16g.88733665C>GCA397112263HSALR1,PIEZO1c.2410G>C (p.Val804Leu)
n.269+2217C>G
gnomAD v4
16g.88733665C>TCA8232783HSALR1,PIEZO1c.2410G>A (p.Val804Met)
n.269+2217C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733666delCA2576093097HSALR1,PIEZO1c.2410del (p.Val804CysfsTer24)
n.269+2218del
gnomAD v4
16g.88733666C>ACA397112265HSALR1,PIEZO1c.2409G>T (p.Gln803His)
n.269+2218C>A
gnomAD v4
16g.88733666C=CA2241262036HSALR1,PIEZO1c.2409G= (p.Gln803=)
n.269+2218C=
16g.88733666C>GCA8232784HSALR1,PIEZO1c.2409G>C (p.Gln803His)
n.269+2218C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733666C>TCA497366560HSALR1,PIEZO1c.2409G>A (p.Gln803=)
n.269+2218C>T
dbSNP
16g.88733667T>ACA397112267HSALR1,PIEZO1c.2408A>T (p.Gln803Leu)
n.269+2219T>A
16g.88733667T>CCA397112268HSALR1,PIEZO1c.2408A>G (p.Gln803Arg)
n.269+2219T>C
dbSNP gnomAD v3 gnomAD v4
16g.88733667T>GCA397112269HSALR1,PIEZO1c.2408A>C (p.Gln803Pro)
n.269+2219T>G
dbSNP gnomAD v2 gnomAD v4
16g.88733667T=CA2241262037HSALR1,PIEZO1c.2408A= (p.Gln803=)
n.269+2219T=
16g.88733668G>ACA397112270HSALR1,PIEZO1c.2407C>T (p.Gln803Ter)
n.269+2220G>A
gnomAD v4
16g.88733668G>CCA8232785HSALR1,PIEZO1c.2407C>G (p.Gln803Glu)
n.269+2220G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733668G=CA2241262038HSALR1,PIEZO1c.2407C= (p.Gln803=)
n.269+2220G=
16g.88733668G>TCA397112272HSALR1,PIEZO1c.2407C>A (p.Gln803Lys)
n.269+2220G>T

Number of alleles fetched