Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88733568G>C | CA2634881077 | HSALR1,PIEZO1 | c.2487+20C>G (n.2487+20C>G) n.269+2120G>C | gnomAD v4 |
16 | g.88733568G>T | CA2511028031 | HSALR1,PIEZO1 | c.2487+20C>A (n.2487+20C>A) n.269+2120G>T | |
16 | g.88733569A= | CA2241261972 | HSALR1,PIEZO1 | c.2487+19T= (n.2487+19T=) n.269+2121A= | |
16 | g.88733569A>C | CA8232773 | HSALR1,PIEZO1 | c.2487+19T>G (n.2487+19T>G) n.269+2121A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733570G>A | CA286422528 | HSALR1,PIEZO1 | c.2487+18C>T (n.2487+18C>T) n.269+2122G>A | dbSNP gnomAD v4 |
16 | g.88733570G>C | CA624449427 | HSALR1,PIEZO1 | c.2487+18C>G (n.2487+18C>G) n.269+2122G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733570G= | CA2241261973 | HSALR1,PIEZO1 | c.2487+18C= (n.2487+18C=) n.269+2122G= | |
16 | g.88733572T>C | CA2241261975 | HSALR1,PIEZO1 | c.2487+16A>G (n.2487+16A>G) n.269+2124T>C | dbSNP |
16 | g.88733572T= | CA2241261974 | HSALR1,PIEZO1 | c.2487+16A= (n.2487+16A=) n.269+2124T= | |
16 | g.88733573G>A | CA624449428 | HSALR1,PIEZO1 | c.2487+15C>T (n.2487+15C>T) n.269+2125G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733573G= | CA2241261976 | HSALR1,PIEZO1 | c.2487+15C= (n.2487+15C=) n.269+2125G= | |
16 | g.88733574C>A | CA2634881078 | HSALR1,PIEZO1 | c.2487+14G>T (n.2487+14G>T) n.269+2126C>A | gnomAD v4 |
16 | g.88733574C>T | CA2634881079 | HSALR1,PIEZO1 | c.2487+14G>A (n.2487+14G>A) n.269+2126C>T | gnomAD v4 |
16 | g.88733575C>T | CA2634881080 | HSALR1,PIEZO1 | c.2487+13G>A (n.2487+13G>A) n.269+2127C>T | gnomAD v4 |
16 | g.88733576T>C | CA624449429 | HSALR1,PIEZO1 | c.2487+12A>G (n.2487+12A>G) n.269+2128T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733576T= | CA2241261977 | HSALR1,PIEZO1 | c.2487+12A= (n.2487+12A=) n.269+2128T= | |
16 | g.88733577G>A | CA624449430 | HSALR1,PIEZO1 | c.2487+11C>T (n.2487+11C>T) n.269+2129G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733577G>C | CA2634881081 | HSALR1,PIEZO1 | c.2487+11C>G (n.2487+11C>G) n.269+2129G>C | gnomAD v4 |
16 | g.88733577G= | CA2241261978 | HSALR1,PIEZO1 | c.2487+11C= (n.2487+11C=) n.269+2129G= | |
16 | g.88733577G>T | CA2241261979 | HSALR1,PIEZO1 | c.2487+11C>A (n.2487+11C>A) n.269+2129G>T | dbSNP |
16 | g.88733580A>C | CA2634881082 | HSALR1,PIEZO1 | c.2487+8T>G (n.2487+8T>G) n.269+2132A>C | gnomAD v4 |
16 | g.88733580A>G | CA2634881083 | HSALR1,PIEZO1 | c.2487+8T>C (n.2487+8T>C) n.269+2132A>G | gnomAD v4 |
16 | g.88733581C= | CA2241261980 | HSALR1,PIEZO1 | c.2487+7G= (n.2487+7G=) n.269+2133C= | |
16 | g.88733581C>G | CA2241261981 | HSALR1,PIEZO1 | c.2487+7G>C (n.2487+7G>C) n.269+2133C>G | dbSNP |
16 | g.88733581C>T | CA8232774 | HSALR1,PIEZO1 | c.2487+7G>A (n.2487+7G>A) n.269+2133C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88733582A>G | CA2634881084 | HSALR1,PIEZO1 | c.2487+6T>C (n.2487+6T>C) n.269+2134A>G | gnomAD v4 |
16 | g.88733584T>A | CA2634881085 | HSALR1,PIEZO1 | c.2487+4A>T (n.2487+4A>T) n.269+2136T>A | gnomAD v4 |
16 | g.88733584T>C | CA286422557 | HSALR1,PIEZO1 | c.2487+4A>G (n.2487+4A>G) n.269+2136T>C | dbSNP |
16 | g.88733584T= | CA2241261982 | HSALR1,PIEZO1 | c.2487+4A= (n.2487+4A=) n.269+2136T= | |
16 | g.88733585C= | CA2241261983 | HSALR1,PIEZO1 | c.2487+3G= (n.2487+3G=) n.269+2137C= | |
16 | g.88733585C>T | CA2241261984 | HSALR1,PIEZO1 | c.2487+3G>A (n.2487+3G>A) n.269+2137C>T | dbSNP gnomAD v4 |
16 | g.88733586A>C | CA397112006 | HSALR1,PIEZO1 | c.2487+2T>G (n.2487+2T>G) n.269+2138A>C | |
16 | g.88733586A>G | CA397112008 | HSALR1,PIEZO1 | c.2487+2T>C (n.2487+2T>C) n.269+2138A>G | gnomAD v4 |
16 | g.88733586A>T | CA397112010 | HSALR1,PIEZO1 | c.2487+2T>A (n.2487+2T>A) n.269+2138A>T | |
16 | g.88733587C>A | CA397112016 | HSALR1,PIEZO1 | c.2487+1G>T (n.2487+1G>T) n.269+2139C>A | gnomAD v4 |
16 | g.88733587C= | CA2241261985 | HSALR1,PIEZO1 | c.2487+1G= (n.2487+1G=) n.269+2139C= | |
16 | g.88733587C>G | CA397112014 | HSALR1,PIEZO1 | c.2487+1G>C (n.2487+1G>C) n.269+2139C>G | |
16 | g.88733587C>T | CA397112012 | HSALR1,PIEZO1 | c.2487+1G>A (n.2487+1G>A) n.269+2139C>T | dbSNP |
16 | g.88733588dup | CA2634881086 | HSALR1,PIEZO1 | c.2487+1dup n.269+2140dup | gnomAD v4 |
16 | g.88733590_88733592del | CA645570844 | HSALR1,PIEZO1 | c.2486_2487+1del n.269+2142_269+2144del | gnomAD v4 COSMIC |
16 | g.88733588C>A | CA397112017 | HSALR1,PIEZO1 | c.2487G>T (p.Glu829Asp) n.269+2140C>A | |
16 | g.88733588C= | CA2241261986 | HSALR1,PIEZO1 | c.2487G= (p.Glu829=) n.269+2140C= | |
16 | g.88733588C>G | CA397112019 | HSALR1,PIEZO1 | c.2487G>C (p.Glu829Asp) n.269+2140C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733588C>T | CA497366372 | HSALR1,PIEZO1 | c.2487G>A (p.Glu829=) n.269+2140C>T | |
16 | g.88733589T>A | CA397112021 | HSALR1,PIEZO1 | c.2486A>T (p.Glu829Val) n.269+2141T>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733589T>C | CA397112022 | HSALR1,PIEZO1 | c.2486A>G (p.Glu829Gly) n.269+2141T>C | |
16 | g.88733589T>G | CA397112024 | HSALR1,PIEZO1 | c.2486A>C (p.Glu829Ala) n.269+2141T>G | |
16 | g.88733589T= | CA2241261987 | HSALR1,PIEZO1 | c.2486A= (p.Glu829=) n.269+2141T= | |
16 | g.88733590C>A | CA397112025 | HSALR1,PIEZO1 | c.2485G>T (p.Glu829Ter) n.269+2142C>A | gnomAD v4 |
16 | g.88733590C= | CA2241261988 | HSALR1,PIEZO1 | c.2485G= (p.Glu829=) n.269+2142C= | |
16 | g.88733590C>G | CA397112027 | HSALR1,PIEZO1 | c.2485G>C (p.Glu829Gln) n.269+2142C>G | |
16 | g.88733590C>T | CA397112029 | HSALR1,PIEZO1 | c.2485G>A (p.Glu829Lys) n.269+2142C>T | dbSNP gnomAD v4 |
16 | g.88733591C>A | CA397112030 | HSALR1,PIEZO1 | c.2484G>T (p.Lys828Asn) n.269+2143C>A | |
16 | g.88733591C>G | CA397112031 | HSALR1,PIEZO1 | c.2484G>C (p.Lys828Asn) n.269+2143C>G | |
16 | g.88733591C>T | CA497366383 | HSALR1,PIEZO1 | c.2484G>A (p.Lys828=) n.269+2143C>T | gnomAD v4 |
16 | g.88733592T>A | CA397112032 | HSALR1,PIEZO1 | c.2483A>T (p.Lys828Met) n.269+2144T>A | |
16 | g.88733592T>C | CA397112033 | HSALR1,PIEZO1 | c.2483A>G (p.Lys828Arg) n.269+2144T>C | |
16 | g.88733592T>G | CA286422564 | HSALR1,PIEZO1 | c.2483A>C (p.Lys828Thr) n.269+2144T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733592T= | CA2241261989 | HSALR1,PIEZO1 | c.2483A= (p.Lys828=) n.269+2144T= | |
16 | g.88733593T>A | CA397112037 | HSALR1,PIEZO1 | c.2482A>T (p.Lys828Ter) n.269+2145T>A | |
16 | g.88733593T>C | CA397112038 | HSALR1,PIEZO1 | c.2482A>G (p.Lys828Glu) n.269+2145T>C | gnomAD v4 |
16 | g.88733593T>G | CA397112035 | HSALR1,PIEZO1 | c.2482A>C (p.Lys828Gln) n.269+2145T>G | |
16 | g.88733593T= | CA2241261990 | HSALR1,PIEZO1 | c.2482A= (p.Lys828=) n.269+2145T= | |
16 | g.88733594C>A | CA497366386 | HSALR1,PIEZO1 | c.2481G>T (p.Leu827=) n.269+2146C>A | |
16 | g.88733594C= | CA2241261991 | HSALR1,PIEZO1 | c.2481G= (p.Leu827=) n.269+2146C= | |
16 | g.88733594C>G | CA497366387 | HSALR1,PIEZO1 | c.2481G>C (p.Leu827=) n.269+2146C>G | |
16 | g.88733594C>T | CA497366388 | HSALR1,PIEZO1 | c.2481G>A (p.Leu827=) n.269+2146C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733604_88733624dup | CA919766380 | HSALR1,PIEZO1 | c.2461_2481dup (p.Leu827_Lys828insTyrThrValTrpValAlaLeu) n.269+2156_269+2176dup | dbSNP gnomAD v4 |
16 | g.88733595A>C | CA397112040 | HSALR1,PIEZO1 | c.2480T>G (p.Leu827Arg) n.269+2147A>C | |
16 | g.88733595A>G | CA397112043 | HSALR1,PIEZO1 | c.2480T>C (p.Leu827Pro) n.269+2147A>G | |
16 | g.88733595A>T | CA397112041 | HSALR1,PIEZO1 | c.2480T>A (p.Leu827Gln) n.269+2147A>T | gnomAD v4 |
16 | g.88733596G>A | CA286422570 | HSALR1,PIEZO1 | c.2479C>T (p.Leu827=) n.269+2148G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733596G>C | CA397112045 | HSALR1,PIEZO1 | c.2479C>G (p.Leu827Val) n.269+2148G>C | gnomAD v4 |
16 | g.88733596G= | CA2241261992 | HSALR1,PIEZO1 | c.2479C= (p.Leu827=) n.269+2148G= | |
16 | g.88733596G>T | CA397112046 | HSALR1,PIEZO1 | c.2479C>A (p.Leu827Met) n.269+2148G>T | |
16 | g.88733597G>A | CA286422575 | HSALR1,PIEZO1 | c.2478C>T (p.Ala826=) n.269+2149G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733597G>C | CA497366394 | HSALR1,PIEZO1 | c.2478C>G (p.Ala826=) n.269+2149G>C | |
16 | g.88733597G= | CA2241261993 | HSALR1,PIEZO1 | c.2478C= (p.Ala826=) n.269+2149G= | |
16 | g.88733597G>T | CA497366395 | HSALR1,PIEZO1 | c.2478C>A (p.Ala826=) n.269+2149G>T | |
16 | g.88733598G>A | CA397112047 | HSALR1,PIEZO1 | c.2477C>T (p.Ala826Val) n.269+2150G>A | gnomAD v4 |
16 | g.88733598G>C | CA397112049 | HSALR1,PIEZO1 | c.2477C>G (p.Ala826Gly) n.269+2150G>C | |
16 | g.88733598G>T | CA397112051 | HSALR1,PIEZO1 | c.2477C>A (p.Ala826Asp) n.269+2150G>T | |
16 | g.88733599C>A | CA397112053 | HSALR1,PIEZO1 | c.2476G>T (p.Ala826Ser) n.269+2151C>A | gnomAD v4 |
16 | g.88733599C>G | CA397112054 | HSALR1,PIEZO1 | c.2476G>C (p.Ala826Pro) n.269+2151C>G | |
16 | g.88733599C>T | CA397112055 | HSALR1,PIEZO1 | c.2476G>A (p.Ala826Thr) n.269+2151C>T | ClinVar gnomAD v4 |
16 | g.88733600C>A | CA497366399 | HSALR1,PIEZO1 | c.2475G>T (p.Val825=) n.269+2152C>A | |
16 | g.88733600C= | CA2241261994 | HSALR1,PIEZO1 | c.2475G= (p.Val825=) n.269+2152C= | |
16 | g.88733600C>G | CA497366401 | HSALR1,PIEZO1 | c.2475G>C (p.Val825=) n.269+2152C>G | |
16 | g.88733600C>T | CA497366405 | HSALR1,PIEZO1 | c.2475G>A (p.Val825=) n.269+2152C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733601A>C | CA397112056 | HSALR1,PIEZO1 | c.2474T>G (p.Val825Gly) n.269+2153A>C | gnomAD v4 |
16 | g.88733601A>G | CA397112057 | HSALR1,PIEZO1 | c.2474T>C (p.Val825Ala) n.269+2153A>G | |
16 | g.88733601A>T | CA397112059 | HSALR1,PIEZO1 | c.2474T>A (p.Val825Glu) n.269+2153A>T | |
16 | g.88733602C>A | CA397112060 | HSALR1,PIEZO1 | c.2473G>T (p.Val825Leu) n.269+2154C>A | |
16 | g.88733602C>G | CA397112062 | HSALR1,PIEZO1 | c.2473G>C (p.Val825Leu) n.269+2154C>G | |
16 | g.88733602C>T | CA397112063 | HSALR1,PIEZO1 | c.2473G>A (p.Val825Met) n.269+2154C>T | |
16 | g.88733603C>A | CA397112064 | HSALR1,PIEZO1 | c.2472G>T (p.Trp824Cys) n.269+2155C>A | dbSNP gnomAD v4 |
16 | g.88733603C= | CA2241261995 | HSALR1,PIEZO1 | c.2472G= (p.Trp824=) n.269+2155C= | |
16 | g.88733603C>G | CA397112066 | HSALR1,PIEZO1 | c.2472G>C (p.Trp824Cys) n.269+2155C>G | |
16 | g.88733603C>T | CA397112065 | HSALR1,PIEZO1 | c.2472G>A (p.Trp824Ter) n.269+2155C>T | |
16 | g.88733604C>A | CA397112067 | HSALR1,PIEZO1 | c.2471G>T (p.Trp824Leu) n.269+2156C>A | gnomAD v4 |
16 | g.88733604C>G | CA397112069 | HSALR1,PIEZO1 | c.2471G>C (p.Trp824Ser) n.269+2156C>G | gnomAD v4 |
16 | g.88733604C>T | CA397112070 | HSALR1,PIEZO1 | c.2471G>A (p.Trp824Ter) n.269+2156C>T | |
16 | g.88733605A>C | CA397112072 | HSALR1,PIEZO1 | c.2470T>G (p.Trp824Gly) n.269+2157A>C | |
16 | g.88733605A>G | CA397112073 | HSALR1,PIEZO1 | c.2470T>C (p.Trp824Arg) n.269+2157A>G | gnomAD v4 |
16 | g.88733605A>T | CA397112074 | HSALR1,PIEZO1 | c.2470T>A (p.Trp824Arg) n.269+2157A>T | |
16 | g.88733606G>A | CA286422576 | HSALR1,PIEZO1 | c.2469C>T (p.Val823=) n.269+2158G>A | ClinVar dbSNP gnomAD v4 |
16 | g.88733606G>C | CA286422577 | HSALR1,PIEZO1 | c.2469C>G (p.Val823=) n.269+2158G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733606G= | CA2241261996 | HSALR1,PIEZO1 | c.2469C= (p.Val823=) n.269+2158G= | |
16 | g.88733606G>T | CA497366413 | HSALR1,PIEZO1 | c.2469C>A (p.Val823=) n.269+2158G>T | |
16 | g.88733607A= | CA2241261997 | HSALR1,PIEZO1 | c.2468T= (p.Val823=) n.269+2159A= | |
16 | g.88733607A>C | CA397112077 | HSALR1,PIEZO1 | c.2468T>G (p.Val823Gly) n.269+2159A>C | |
16 | g.88733607A>G | CA397112078 | HSALR1,PIEZO1 | c.2468T>C (p.Val823Ala) n.269+2159A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733607A>T | CA397112079 | HSALR1,PIEZO1 | c.2468T>A (p.Val823Asp) n.269+2159A>T | |
16 | g.88733608C>A | CA397112082 | HSALR1,PIEZO1 | c.2467G>T (p.Val823Phe) n.269+2160C>A | |
16 | g.88733608C= | CA2241261998 | HSALR1,PIEZO1 | c.2467G= (p.Val823=) n.269+2160C= | |
16 | g.88733608C>G | CA397112084 | HSALR1,PIEZO1 | c.2467G>C (p.Val823Leu) n.269+2160C>G | |
16 | g.88733608C>T | CA286422579 | HSALR1,PIEZO1 | c.2467G>A (p.Val823Ile) n.269+2160C>T | dbSNP gnomAD v4 |
16 | g.88733609G>A | CA8232775 | HSALR1,PIEZO1 | c.2466C>T (p.Thr822=) n.269+2161G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733609G>C | CA497366418 | HSALR1,PIEZO1 | c.2466C>G (p.Thr822=) n.269+2161G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733609G= | CA2241261999 | HSALR1,PIEZO1 | c.2466C= (p.Thr822=) n.269+2161G= | |
16 | g.88733609G>T | CA497366417 | HSALR1,PIEZO1 | c.2466C>A (p.Thr822=) n.269+2161G>T | gnomAD v4 |
16 | g.88733610G>A | CA8232776 | HSALR1,PIEZO1 | c.2465C>T (p.Thr822Ile) n.269+2162G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733610G>C | CA397112085 | HSALR1,PIEZO1 | c.2465C>G (p.Thr822Ser) n.269+2162G>C | |
16 | g.88733610G= | CA2241262000 | HSALR1,PIEZO1 | c.2465C= (p.Thr822=) n.269+2162G= | |
16 | g.88733610G>T | CA397112086 | HSALR1,PIEZO1 | c.2465C>A (p.Thr822Asn) n.269+2162G>T | gnomAD v4 |
16 | g.88733611T>A | CA397112091 | HSALR1,PIEZO1 | c.2464A>T (p.Thr822Ser) n.269+2163T>A | |
16 | g.88733611T>C | CA397112089 | HSALR1,PIEZO1 | c.2464A>G (p.Thr822Ala) n.269+2163T>C | dbSNP gnomAD v4 |
16 | g.88733611T>G | CA397112088 | HSALR1,PIEZO1 | c.2464A>C (p.Thr822Pro) n.269+2163T>G | |
16 | g.88733611T= | CA2241262001 | HSALR1,PIEZO1 | c.2464A= (p.Thr822=) n.269+2163T= | |
16 | g.88733612G>A | CA286422587 | HSALR1,PIEZO1 | c.2463C>T (p.Tyr821=) n.269+2164G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733612G>C | CA397112093 | HSALR1,PIEZO1 | c.2463C>G (p.Tyr821Ter) n.269+2164G>C | |
16 | g.88733612G= | CA2241262002 | HSALR1,PIEZO1 | c.2463C= (p.Tyr821=) n.269+2164G= | |
16 | g.88733612G>T | CA397112094 | HSALR1,PIEZO1 | c.2463C>A (p.Tyr821Ter) n.269+2164G>T | |
16 | g.88733613T>A | CA397112096 | HSALR1,PIEZO1 | c.2462A>T (p.Tyr821Phe) n.269+2165T>A | dbSNP |
16 | g.88733613T>C | CA397112098 | HSALR1,PIEZO1 | c.2462A>G (p.Tyr821Cys) n.269+2165T>C | |
16 | g.88733613T>G | CA397112099 | HSALR1,PIEZO1 | c.2462A>C (p.Tyr821Ser) n.269+2165T>G | |
16 | g.88733613T= | CA2241262003 | HSALR1,PIEZO1 | c.2462A= (p.Tyr821=) n.269+2165T= | |
16 | g.88733614A>C | CA397112100 | HSALR1,PIEZO1 | c.2461T>G (p.Tyr821Asp) n.269+2166A>C | |
16 | g.88733614A>G | CA397112104 | HSALR1,PIEZO1 | c.2461T>C (p.Tyr821His) n.269+2166A>G | |
16 | g.88733614A>T | CA397112102 | HSALR1,PIEZO1 | c.2461T>A (p.Tyr821Asn) n.269+2166A>T | |
16 | g.88733615C>A | CA497366438 | HSALR1,PIEZO1 | c.2460G>T (p.Leu820=) n.269+2167C>A | |
16 | g.88733615C= | CA2241262004 | HSALR1,PIEZO1 | c.2460G= (p.Leu820=) n.269+2167C= | |
16 | g.88733615C>G | CA497366439 | HSALR1,PIEZO1 | c.2460G>C (p.Leu820=) n.269+2167C>G | gnomAD v4 |
16 | g.88733615C>T | CA497366440 | HSALR1,PIEZO1 | c.2460G>A (p.Leu820=) n.269+2167C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733616A>C | CA397112106 | HSALR1,PIEZO1 | c.2459T>G (p.Leu820Arg) n.269+2168A>C | |
16 | g.88733616A>G | CA397112107 | HSALR1,PIEZO1 | c.2459T>C (p.Leu820Pro) n.269+2168A>G | |
16 | g.88733616A>T | CA397112108 | HSALR1,PIEZO1 | c.2459T>A (p.Leu820Gln) n.269+2168A>T | |
16 | g.88733617G>A | CA497366442 | HSALR1,PIEZO1 | c.2458C>T (p.Leu820=) n.269+2169G>A | |
16 | g.88733617G>C | CA397112110 | HSALR1,PIEZO1 | c.2458C>G (p.Leu820Val) n.269+2169G>C | gnomAD v4 |
16 | g.88733617G>T | CA397112112 | HSALR1,PIEZO1 | c.2458C>A (p.Leu820Met) n.269+2169G>T | |
16 | g.88733618G>A | CA497366443 | HSALR1,PIEZO1 | c.2457C>T (p.Ala819=) n.269+2170G>A | |
16 | g.88733618G>C | CA497366444 | HSALR1,PIEZO1 | c.2457C>G (p.Ala819=) n.269+2170G>C | |
16 | g.88733618G= | CA2241262005 | HSALR1,PIEZO1 | c.2457C= (p.Ala819=) n.269+2170G= | |
16 | g.88733618G>T | CA286422593 | HSALR1,PIEZO1 | c.2457C>A (p.Ala819=) n.269+2170G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733619G>A | CA397112113 | HSALR1,PIEZO1 | c.2456C>T (p.Ala819Val) n.269+2171G>A | gnomAD v4 |
16 | g.88733619G>C | CA286422640 | HSALR1,PIEZO1 | c.2456C>G (p.Ala819Gly) n.269+2171G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733619G= | CA2241262006 | HSALR1,PIEZO1 | c.2456C= (p.Ala819=) n.269+2171G= | |
16 | g.88733619G>T | CA397112115 | HSALR1,PIEZO1 | c.2456C>A (p.Ala819Asp) n.269+2171G>T | gnomAD v4 |
16 | g.88733620C>A | CA397112118 | HSALR1,PIEZO1 | c.2455G>T (p.Ala819Ser) n.269+2172C>A | |
16 | g.88733620C= | CA2241262007 | HSALR1,PIEZO1 | c.2455G= (p.Ala819=) n.269+2172C= | |
16 | g.88733620C>G | CA397112119 | HSALR1,PIEZO1 | c.2455G>C (p.Ala819Pro) n.269+2172C>G | |
16 | g.88733620C>T | CA286422664 | HSALR1,PIEZO1 | c.2455G>A (p.Ala819Thr) n.269+2172C>T | dbSNP gnomAD v4 |
16 | g.88733621C>A | CA497366458 | HSALR1,PIEZO1 | c.2454G>T (p.Val818=) n.269+2173C>A | |
16 | g.88733621C>G | CA497366459 | HSALR1,PIEZO1 | c.2454G>C (p.Val818=) n.269+2173C>G | |
16 | g.88733621C>T | CA497366460 | HSALR1,PIEZO1 | c.2454G>A (p.Val818=) n.269+2173C>T | |
16 | g.88733622A= | CA2241262008 | HSALR1,PIEZO1 | c.2453T= (p.Val818=) n.269+2174A= | |
16 | g.88733622A>C | CA397112124 | HSALR1,PIEZO1 | c.2453T>G (p.Val818Gly) n.269+2174A>C | |
16 | g.88733622A>G | CA397112122 | HSALR1,PIEZO1 | c.2453T>C (p.Val818Ala) n.269+2174A>G | gnomAD v4 |
16 | g.88733622A>T | CA286422670 | HSALR1,PIEZO1 | c.2453T>A (p.Val818Glu) n.269+2174A>T | dbSNP |
16 | g.88733623C>A | CA397112126 | HSALR1,PIEZO1 | c.2452G>T (p.Val818Leu) n.269+2175C>A | |
16 | g.88733623C= | CA2241262009 | HSALR1,PIEZO1 | c.2452G= (p.Val818=) n.269+2175C= | |
16 | g.88733623C>G | CA397112129 | HSALR1,PIEZO1 | c.2452G>C (p.Val818Leu) n.269+2175C>G | dbSNP |
16 | g.88733623C>T | CA397112128 | HSALR1,PIEZO1 | c.2452G>A (p.Val818Met) n.269+2175C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733624C>A | CA497366474 | HSALR1,PIEZO1 | c.2451G>T (p.Leu817=) n.269+2176C>A | |
16 | g.88733624C= | CA2241262010 | HSALR1,PIEZO1 | c.2451G= (p.Leu817=) n.269+2176C= | |
16 | g.88733624C>G | CA8232777 | HSALR1,PIEZO1 | c.2451G>C (p.Leu817=) n.269+2176C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733624C>T | CA497366473 | HSALR1,PIEZO1 | c.2451G>A (p.Leu817=) n.269+2176C>T | |
16 | g.88733625A>C | CA397112131 | HSALR1,PIEZO1 | c.2450T>G (p.Leu817Arg) n.269+2177A>C | |
16 | g.88733625A>G | CA397112132 | HSALR1,PIEZO1 | c.2450T>C (p.Leu817Pro) n.269+2177A>G | |
16 | g.88733625A>T | CA397112133 | HSALR1,PIEZO1 | c.2450T>A (p.Leu817Gln) n.269+2177A>T | |
16 | g.88733626G>A | CA497366478 | HSALR1,PIEZO1 | c.2449C>T (p.Leu817=) n.269+2178G>A | dbSNP gnomAD v4 |
16 | g.88733626G>C | CA286422682 | HSALR1,PIEZO1 | c.2449C>G (p.Leu817Val) n.269+2178G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733626G= | CA2241262011 | HSALR1,PIEZO1 | c.2449C= (p.Leu817=) n.269+2178G= | |
16 | g.88733626G>T | CA397112135 | HSALR1,PIEZO1 | c.2449C>A (p.Leu817Met) n.269+2178G>T | |
16 | g.88733627C>A | CA397112137 | HSALR1,PIEZO1 | c.2448G>T (p.Lys816Asn) n.269+2179C>A | |
16 | g.88733627C>G | CA397112139 | HSALR1,PIEZO1 | c.2448G>C (p.Lys816Asn) n.269+2179C>G | |
16 | g.88733627C>T | CA497366479 | HSALR1,PIEZO1 | c.2448G>A (p.Lys816=) n.269+2179C>T | gnomAD v4 |
16 | g.88733628T>A | CA397112140 | HSALR1,PIEZO1 | c.2447A>T (p.Lys816Met) n.269+2180T>A | |
16 | g.88733628T>C | CA397112142 | HSALR1,PIEZO1 | c.2447A>G (p.Lys816Arg) n.269+2180T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733628T>G | CA397112144 | HSALR1,PIEZO1 | c.2447A>C (p.Lys816Thr) n.269+2180T>G | gnomAD v4 |
16 | g.88733628T= | CA2241262012 | HSALR1,PIEZO1 | c.2447A= (p.Lys816=) n.269+2180T= | |
16 | g.88733629T>A | CA397112149 | HSALR1,PIEZO1 | c.2446A>T (p.Lys816Ter) n.269+2181T>A | |
16 | g.88733629T>C | CA397112147 | HSALR1,PIEZO1 | c.2446A>G (p.Lys816Glu) n.269+2181T>C | |
16 | g.88733629T>G | CA397112146 | HSALR1,PIEZO1 | c.2446A>C (p.Lys816Gln) n.269+2181T>G | |
16 | g.88733630G>A | CA497366486 | HSALR1,PIEZO1 | c.2445C>T (p.Phe815=) n.269+2182G>A | gnomAD v4 |
16 | g.88733630G>C | CA397112150 | HSALR1,PIEZO1 | c.2445C>G (p.Phe815Leu) n.269+2182G>C | ClinVar gnomAD v4 |
16 | g.88733630G>T | CA397112152 | HSALR1,PIEZO1 | c.2445C>A (p.Phe815Leu) n.269+2182G>T | |
16 | g.88733631A= | CA2241262013 | HSALR1,PIEZO1 | c.2444T= (p.Phe815=) n.269+2183A= | |
16 | g.88733631A>C | CA286422683 | HSALR1,PIEZO1 | c.2444T>G (p.Phe815Cys) n.269+2183A>C | dbSNP gnomAD v4 |
16 | g.88733631A>G | CA397112153 | HSALR1,PIEZO1 | c.2444T>C (p.Phe815Ser) n.269+2183A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733631A>T | CA397112155 | HSALR1,PIEZO1 | c.2444T>A (p.Phe815Tyr) n.269+2183A>T | |
16 | g.88733632A>C | CA397112157 | HSALR1,PIEZO1 | c.2443T>G (p.Phe815Val) n.269+2184A>C | gnomAD v4 |
16 | g.88733632A>G | CA397112159 | HSALR1,PIEZO1 | c.2443T>C (p.Phe815Leu) n.269+2184A>G | |
16 | g.88733632A>T | CA397112160 | HSALR1,PIEZO1 | c.2443T>A (p.Phe815Ile) n.269+2184A>T | |
16 | g.88733633A>C | CA497366491 | HSALR1,PIEZO1 | c.2442T>G (p.Val814=) n.269+2185A>C | |
16 | g.88733633A>G | CA497366492 | HSALR1,PIEZO1 | c.2442T>C (p.Val814=) n.269+2185A>G | |
16 | g.88733633A>T | CA497366493 | HSALR1,PIEZO1 | c.2442T>A (p.Val814=) n.269+2185A>T | |
16 | g.88733634A>C | CA397112161 | HSALR1,PIEZO1 | c.2441T>G (p.Val814Gly) n.269+2186A>C | |
16 | g.88733634A>G | CA397112163 | HSALR1,PIEZO1 | c.2441T>C (p.Val814Ala) n.269+2186A>G | |
16 | g.88733634A>T | CA397112165 | HSALR1,PIEZO1 | c.2441T>A (p.Val814Asp) n.269+2186A>T | |
16 | g.88733635C>A | CA397112168 | HSALR1,PIEZO1 | c.2440G>T (p.Val814Phe) n.269+2187C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733635C= | CA2241262014 | HSALR1,PIEZO1 | c.2440G= (p.Val814=) n.269+2187C= | |
16 | g.88733635C>G | CA397112167 | HSALR1,PIEZO1 | c.2440G>C (p.Val814Leu) n.269+2187C>G | gnomAD v4 |
16 | g.88733635C>T | CA8232778 | HSALR1,PIEZO1 | c.2440G>A (p.Val814Ile) n.269+2187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733636G>A | CA8232779 | HSALR1,PIEZO1 | c.2439C>T (p.His813=) n.269+2188G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733636G>C | CA397112171 | HSALR1,PIEZO1 | c.2439C>G (p.His813Gln) n.269+2188G>C | |
16 | g.88733636G= | CA2241262015 | HSALR1,PIEZO1 | c.2439C= (p.His813=) n.269+2188G= | |
16 | g.88733636G>T | CA286422691 | HSALR1,PIEZO1 | c.2439C>A (p.His813Gln) n.269+2188G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733637T>A | CA397112174 | HSALR1,PIEZO1 | c.2438A>T (p.His813Leu) n.269+2189T>A | |
16 | g.88733637T>C | CA397112175 | HSALR1,PIEZO1 | c.2438A>G (p.His813Arg) n.269+2189T>C | |
16 | g.88733637T>G | CA397112177 | HSALR1,PIEZO1 | c.2438A>C (p.His813Pro) n.269+2189T>G | |
16 | g.88733638G>A | CA397112178 | HSALR1,PIEZO1 | c.2437C>T (p.His813Tyr) n.269+2190G>A | gnomAD v4 |
16 | g.88733638G>C | CA397112179 | HSALR1,PIEZO1 | c.2437C>G (p.His813Asp) n.269+2190G>C | |
16 | g.88733638G>T | CA397112180 | HSALR1,PIEZO1 | c.2437C>A (p.His813Asn) n.269+2190G>T | |
16 | g.88733639A= | CA2241262016 | HSALR1,PIEZO1 | c.2436T= (p.Leu812=) n.269+2191A= | |
16 | g.88733639A>C | CA497366496 | HSALR1,PIEZO1 | c.2436T>G (p.Leu812=) n.269+2191A>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733639A>G | CA497366497 | HSALR1,PIEZO1 | c.2436T>C (p.Leu812=) n.269+2191A>G | |
16 | g.88733639A>T | CA497366498 | HSALR1,PIEZO1 | c.2436T>A (p.Leu812=) n.269+2191A>T | |
16 | g.88733640A>C | CA397112181 | HSALR1,PIEZO1 | c.2435T>G (p.Leu812Arg) n.269+2192A>C | |
16 | g.88733640A>G | CA397112182 | HSALR1,PIEZO1 | c.2435T>C (p.Leu812Pro) n.269+2192A>G | |
16 | g.88733640A>T | CA397112183 | HSALR1,PIEZO1 | c.2435T>A (p.Leu812His) n.269+2192A>T | |
16 | g.88733641G>A | CA397112187 | HSALR1,PIEZO1 | c.2434C>T (p.Leu812Phe) n.269+2193G>A | dbSNP gnomAD v4 |
16 | g.88733641G>C | CA397112185 | HSALR1,PIEZO1 | c.2434C>G (p.Leu812Val) n.269+2193G>C | |
16 | g.88733641G= | CA2241262017 | HSALR1,PIEZO1 | c.2434C= (p.Leu812=) n.269+2193G= | |
16 | g.88733641G>T | CA397112184 | HSALR1,PIEZO1 | c.2434C>A (p.Leu812Ile) n.269+2193G>T | |
16 | g.88733642C>A | CA397112189 | HSALR1,PIEZO1 | c.2433G>T (p.Glu811Asp) n.269+2194C>A | |
16 | g.88733642C= | CA2241262018 | HSALR1,PIEZO1 | c.2433G= (p.Glu811=) n.269+2194C= | |
16 | g.88733642C>G | CA397112191 | HSALR1,PIEZO1 | c.2433G>C (p.Glu811Asp) n.269+2194C>G | |
16 | g.88733642C>T | CA497366500 | HSALR1,PIEZO1 | c.2433G>A (p.Glu811=) n.269+2194C>T | dbSNP gnomAD v4 |
16 | g.88733643T>A | CA397112192 | HSALR1,PIEZO1 | c.2432A>T (p.Glu811Val) n.269+2195T>A | |
16 | g.88733643T>C | CA286422708 | HSALR1,PIEZO1 | c.2432A>G (p.Glu811Gly) n.269+2195T>C | dbSNP |
16 | g.88733643T>G | CA397112194 | HSALR1,PIEZO1 | c.2432A>C (p.Glu811Ala) n.269+2195T>G | |
16 | g.88733643T= | CA2241262019 | HSALR1,PIEZO1 | c.2432A= (p.Glu811=) n.269+2195T= | |
16 | g.88733644C>A | CA16620293 | HSALR1,PIEZO1 | c.2431G>T (p.Glu811Ter) n.269+2196C>A | ClinVar dbSNP |
16 | g.88733644C= | CA2241262020 | HSALR1,PIEZO1 | c.2431G= (p.Glu811=) n.269+2196C= | |
16 | g.88733644C>G | CA397112196 | HSALR1,PIEZO1 | c.2431G>C (p.Glu811Gln) n.269+2196C>G | gnomAD v4 |
16 | g.88733644C>T | CA397112197 | HSALR1,PIEZO1 | c.2431G>A (p.Glu811Lys) n.269+2196C>T | |
16 | g.88733645C>A | CA497366504 | HSALR1,PIEZO1 | c.2430G>T (p.Leu810=) n.269+2197C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733645C= | CA2241262021 | HSALR1,PIEZO1 | c.2430G= (p.Leu810=) n.269+2197C= | |
16 | g.88733645C>G | CA497366506 | HSALR1,PIEZO1 | c.2430G>C (p.Leu810=) n.269+2197C>G | |
16 | g.88733645C>T | CA497366507 | HSALR1,PIEZO1 | c.2430G>A (p.Leu810=) n.269+2197C>T | dbSNP COSMIC |
16 | g.88733646A= | CA2241262022 | HSALR1,PIEZO1 | c.2429T= (p.Leu810=) n.269+2198A= | |
16 | g.88733646A>C | CA397112199 | HSALR1,PIEZO1 | c.2429T>G (p.Leu810Arg) n.269+2198A>C | |
16 | g.88733646A>G | CA397112201 | HSALR1,PIEZO1 | c.2429T>C (p.Leu810Pro) n.269+2198A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733646A>T | CA397112203 | HSALR1,PIEZO1 | c.2429T>A (p.Leu810Gln) n.269+2198A>T | |
16 | g.88733647G>A | CA497366508 | HSALR1,PIEZO1 | c.2428C>T (p.Leu810=) n.269+2199G>A | dbSNP gnomAD v4 |
16 | g.88733647G>C | CA397112204 | HSALR1,PIEZO1 | c.2428C>G (p.Leu810Val) n.269+2199G>C | |
16 | g.88733647G= | CA2241262023 | HSALR1,PIEZO1 | c.2428C= (p.Leu810=) n.269+2199G= | |
16 | g.88733647G>T | CA397112206 | HSALR1,PIEZO1 | c.2428C>A (p.Leu810Met) n.269+2199G>T | |
16 | g.88733648C>A | CA497366510 | HSALR1,PIEZO1 | c.2427G>T (p.Leu809=) n.269+2200C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733648C= | CA2241262024 | HSALR1,PIEZO1 | c.2427G= (p.Leu809=) n.269+2200C= | |
16 | g.88733648C>G | CA497366517 | HSALR1,PIEZO1 | c.2427G>C (p.Leu809=) n.269+2200C>G | |
16 | g.88733648C>T | CA497366512 | HSALR1,PIEZO1 | c.2427G>A (p.Leu809=) n.269+2200C>T | |
16 | g.88733649A>C | CA397112209 | HSALR1,PIEZO1 | c.2426T>G (p.Leu809Arg) n.269+2201A>C | gnomAD v4 |
16 | g.88733649A>G | CA397112211 | HSALR1,PIEZO1 | c.2426T>C (p.Leu809Pro) n.269+2201A>G | |
16 | g.88733649A>T | CA397112208 | HSALR1,PIEZO1 | c.2426T>A (p.Leu809Gln) n.269+2201A>T | |
16 | g.88733650G>A | CA497366521 | HSALR1,PIEZO1 | c.2425C>T (p.Leu809=) n.269+2202G>A | |
16 | g.88733650G>C | CA397112215 | HSALR1,PIEZO1 | c.2425C>G (p.Leu809Val) n.269+2202G>C | gnomAD v4 |
16 | g.88733650G>T | CA397112213 | HSALR1,PIEZO1 | c.2425C>A (p.Leu809Met) n.269+2202G>T | |
16 | g.88733651C>A | CA497366527 | HSALR1,PIEZO1 | c.2424G>T (p.Arg808=) n.269+2203C>A | gnomAD v4 |
16 | g.88733651C= | CA2241262025 | HSALR1,PIEZO1 | c.2424G= (p.Arg808=) n.269+2203C= | |
16 | g.88733651C>G | CA497366528 | HSALR1,PIEZO1 | c.2424G>C (p.Arg808=) n.269+2203C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733651C>T | CA497366529 | HSALR1,PIEZO1 | c.2424G>A (p.Arg808=) n.269+2203C>T | gnomAD v4 |
16 | g.88733652C>A | CA397112218 | HSALR1,PIEZO1 | c.2423G>T (p.Arg808Leu) n.269+2204C>A | dbSNP gnomAD v4 |
16 | g.88733652C= | CA2241262026 | HSALR1,PIEZO1 | c.2423G= (p.Arg808=) n.269+2204C= | |
16 | g.88733652C>G | CA397112217 | HSALR1,PIEZO1 | c.2423G>C (p.Arg808Pro) n.269+2204C>G | |
16 | g.88733652C>T | CA082797 | HSALR1,PIEZO1 | c.2423G>A (p.Arg808Gln) n.269+2204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.[88733652C>T;88733731C>T;88734844G>C] | CA082799 | HSALR1,PIEZO1 | c.[1848+31C>G;2344G>A;2423G>A] (p.[Gly782Ser;Arg808Gln]) n.[269+2204C>T;269+2283C>T;270-2977G>C] | |
16 | g.88733653G>A | CA8232780 | HSALR1,PIEZO1 | c.2422C>T (p.Arg808Trp) n.269+2205G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733653G>C | CA397112220 | HSALR1,PIEZO1 | c.2422C>G (p.Arg808Gly) n.269+2205G>C | gnomAD v4 |
16 | g.88733653G= | CA2241262027 | HSALR1,PIEZO1 | c.2422C= (p.Arg808=) n.269+2205G= | |
16 | g.88733653G>T | CA497366534 | HSALR1,PIEZO1 | c.2422C>A (p.Arg808=) n.269+2205G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733654C>A | CA497366535 | HSALR1,PIEZO1 | c.2421G>T (p.Arg807=) n.269+2206C>A | |
16 | g.88733654C= | CA2241262028 | HSALR1,PIEZO1 | c.2421G= (p.Arg807=) n.269+2206C= | |
16 | g.88733654C>G | CA8232781 | HSALR1,PIEZO1 | c.2421G>C (p.Arg807=) n.269+2206C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733654C>T | CA497366536 | HSALR1,PIEZO1 | c.2421G>A (p.Arg807=) n.269+2206C>T | gnomAD v4 |
16 | g.88733655C>A | CA397112223 | HSALR1,PIEZO1 | c.2420G>T (p.Arg807Leu) n.269+2207C>A | gnomAD v4 |
16 | g.88733655C= | CA2241262029 | HSALR1,PIEZO1 | c.2420G= (p.Arg807=) n.269+2207C= | |
16 | g.88733655C>G | CA397112224 | HSALR1,PIEZO1 | c.2420G>C (p.Arg807Pro) n.269+2207C>G | |
16 | g.88733655C>T | CA16620294 | HSALR1,PIEZO1 | c.2420G>A (p.Arg807Gln) n.269+2207C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733656G>A | CA8232782 | HSALR1,PIEZO1 | c.2419C>T (p.Arg807Trp) n.269+2208G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733656G>C | CA397112225 | HSALR1,PIEZO1 | c.2419C>G (p.Arg807Gly) n.269+2208G>C | gnomAD v4 |
16 | g.88733656G= | CA2241262030 | HSALR1,PIEZO1 | c.2419C= (p.Arg807=) n.269+2208G= | |
16 | g.88733656G>T | CA497366538 | HSALR1,PIEZO1 | c.2419C>A (p.Arg807=) n.269+2208G>T | |
16 | g.88733657C>A | CA497366542 | HSALR1,PIEZO1 | c.2418G>T (p.Leu806=) n.269+2209C>A | |
16 | g.88733657C>G | CA497366540 | HSALR1,PIEZO1 | c.2418G>C (p.Leu806=) n.269+2209C>G | |
16 | g.88733657C>T | CA497366539 | HSALR1,PIEZO1 | c.2418G>A (p.Leu806=) n.269+2209C>T | |
16 | g.88733658A>C | CA397112226 | HSALR1,PIEZO1 | c.2417T>G (p.Leu806Arg) n.269+2210A>C | |
16 | g.88733658A>G | CA397112227 | HSALR1,PIEZO1 | c.2417T>C (p.Leu806Pro) n.269+2210A>G | |
16 | g.88733658A>T | CA397112229 | HSALR1,PIEZO1 | c.2417T>A (p.Leu806Gln) n.269+2210A>T | |
16 | g.88733658_88733659delinsAG | CA2241262031 | HSALR1,PIEZO1 | c.2416_2417delinsCT (p.Leu806=) n.269+2210_269+2211delinsAG | |
16 | g.88733659G>A | CA497366543 | HSALR1,PIEZO1 | c.2416C>T (p.Leu806=) n.269+2211G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733659G>C | CA397112233 | HSALR1,PIEZO1 | c.2416C>G (p.Leu806Val) n.269+2211G>C | |
16 | g.88733659G= | CA2241262032 | HSALR1,PIEZO1 | c.2416C= (p.Leu806=) n.269+2211G= | |
16 | g.88733659G>T | CA397112231 | HSALR1,PIEZO1 | c.2416C>A (p.Leu806Met) n.269+2211G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733660del | CA725646820 | HSALR1,PIEZO1 | c.2416del (p.Leu806CysfsTer22) n.269+2212del | dbSNP gnomAD v4 |
16 | g.88733660G>A | CA286422759 | HSALR1,PIEZO1 | c.2415C>T (p.Phe805=) n.269+2212G>A | ClinVar dbSNP gnomAD v4 |
16 | g.88733660G>C | CA397112235 | HSALR1,PIEZO1 | c.2415C>G (p.Phe805Leu) n.269+2212G>C | gnomAD v4 |
16 | g.88733660G= | CA2241262033 | HSALR1,PIEZO1 | c.2415C= (p.Phe805=) n.269+2212G= | |
16 | g.88733660G>T | CA397112237 | HSALR1,PIEZO1 | c.2415C>A (p.Phe805Leu) n.269+2212G>T | ClinVar |
16 | g.88733661A>C | CA397112239 | HSALR1,PIEZO1 | c.2414T>G (p.Phe805Cys) n.269+2213A>C | |
16 | g.88733661A>G | CA397112241 | HSALR1,PIEZO1 | c.2414T>C (p.Phe805Ser) n.269+2213A>G | |
16 | g.88733661A>T | CA397112242 | HSALR1,PIEZO1 | c.2414T>A (p.Phe805Tyr) n.269+2213A>T | |
16 | g.88733662A>C | CA397112243 | HSALR1,PIEZO1 | c.2413T>G (p.Phe805Val) n.269+2214A>C | gnomAD v4 |
16 | g.88733662A>G | CA397112245 | HSALR1,PIEZO1 | c.2413T>C (p.Phe805Leu) n.269+2214A>G | |
16 | g.88733662A>T | CA397112247 | HSALR1,PIEZO1 | c.2413T>A (p.Phe805Ile) n.269+2214A>T | |
16 | g.88733663C>A | CA497366553 | HSALR1,PIEZO1 | c.2412G>T (p.Val804=) n.269+2215C>A | |
16 | g.88733663C>G | CA497366554 | HSALR1,PIEZO1 | c.2412G>C (p.Val804=) n.269+2215C>G | |
16 | g.88733663C>T | CA497366555 | HSALR1,PIEZO1 | c.2412G>A (p.Val804=) n.269+2215C>T | gnomAD v4 |
16 | g.88733664A= | CA2241262034 | HSALR1,PIEZO1 | c.2411T= (p.Val804=) n.269+2216A= | |
16 | g.88733664A>C | CA397112248 | HSALR1,PIEZO1 | c.2411T>G (p.Val804Gly) n.269+2216A>C | |
16 | g.88733664A>G | CA397112250 | HSALR1,PIEZO1 | c.2411T>C (p.Val804Ala) n.269+2216A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733664A>T | CA397112251 | HSALR1,PIEZO1 | c.2411T>A (p.Val804Glu) n.269+2216A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733665C>A | CA397112261 | HSALR1,PIEZO1 | c.2410G>T (p.Val804Leu) n.269+2217C>A | |
16 | g.88733665C= | CA2241262035 | HSALR1,PIEZO1 | c.2410G= (p.Val804=) n.269+2217C= | |
16 | g.88733665C>G | CA397112263 | HSALR1,PIEZO1 | c.2410G>C (p.Val804Leu) n.269+2217C>G | gnomAD v4 |
16 | g.88733665C>T | CA8232783 | HSALR1,PIEZO1 | c.2410G>A (p.Val804Met) n.269+2217C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733666del | CA2576093097 | HSALR1,PIEZO1 | c.2410del (p.Val804CysfsTer24) n.269+2218del | gnomAD v4 |
16 | g.88733666C>A | CA397112265 | HSALR1,PIEZO1 | c.2409G>T (p.Gln803His) n.269+2218C>A | gnomAD v4 |
16 | g.88733666C= | CA2241262036 | HSALR1,PIEZO1 | c.2409G= (p.Gln803=) n.269+2218C= | |
16 | g.88733666C>G | CA8232784 | HSALR1,PIEZO1 | c.2409G>C (p.Gln803His) n.269+2218C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733666C>T | CA497366560 | HSALR1,PIEZO1 | c.2409G>A (p.Gln803=) n.269+2218C>T | dbSNP |
16 | g.88733667T>A | CA397112267 | HSALR1,PIEZO1 | c.2408A>T (p.Gln803Leu) n.269+2219T>A | |
16 | g.88733667T>C | CA397112268 | HSALR1,PIEZO1 | c.2408A>G (p.Gln803Arg) n.269+2219T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733667T>G | CA397112269 | HSALR1,PIEZO1 | c.2408A>C (p.Gln803Pro) n.269+2219T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733667T= | CA2241262037 | HSALR1,PIEZO1 | c.2408A= (p.Gln803=) n.269+2219T= | |
16 | g.88733668G>A | CA397112270 | HSALR1,PIEZO1 | c.2407C>T (p.Gln803Ter) n.269+2220G>A | gnomAD v4 |
16 | g.88733668G>C | CA8232785 | HSALR1,PIEZO1 | c.2407C>G (p.Gln803Glu) n.269+2220G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733668G= | CA2241262038 | HSALR1,PIEZO1 | c.2407C= (p.Gln803=) n.269+2220G= | |
16 | g.88733668G>T | CA397112272 | HSALR1,PIEZO1 | c.2407C>A (p.Gln803Lys) n.269+2220G>T |