Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55693209C>ACA385181603ITGA7c.*2268G>T (n.*2268G>T)
c.1315G>T
n.2059G>T
c.2170G>T (p.Glu724Ter)
c.2656G>T (p.Glu886Ter)
c.*2355G>T (n.*2355G>T)
n.750G>T
c.*1128G>T (n.*1128G>T)
c.1457G>T
c.2652+4G>T (n.2652+4G>T)
c.2644G>T (p.Glu882Ter)
c.2626G>T (p.Glu876Ter)
c.2365G>T (p.Glu789Ter)
c.709G>T
c.2776G>T (p.Glu926Ter)
c.2758G>T (p.Glu920Ter)
c.2437G>T (p.Glu813Ter)
c.2305G>T (p.Glu769Ter)
c.2302G>T (p.Glu768Ter)
c.2386G>T (p.Glu796Ter)
c.2317G>T (p.Glu773Ter)
c.1300G>T (p.Glu434Ter)
12g.55693209C=CA2038035843ITGA7c.*2268G= (n.*2268G=)
c.1315G=
n.2059G=
c.2170G= (p.Glu724=)
c.2656G= (p.Glu886=)
c.*2355G= (n.*2355G=)
n.750G=
c.*1128G= (n.*1128G=)
c.1457G=
c.2652+4G= (n.2652+4G=)
c.2644G= (p.Glu882=)
c.2626G= (p.Glu876=)
c.2365G= (p.Glu789=)
c.709G=
c.2776G= (p.Glu926=)
c.2758G= (p.Glu920=)
c.2437G= (p.Glu813=)
c.2305G= (p.Glu769=)
c.2302G= (p.Glu768=)
c.2386G= (p.Glu796=)
c.2317G= (p.Glu773=)
c.1300G= (p.Glu434=)
12g.55693209C>GCA385181604ITGA7c.*2268G>C (n.*2268G>C)
c.1315G>C
n.2059G>C
c.2170G>C (p.Glu724Gln)
c.2656G>C (p.Glu886Gln)
c.*2355G>C (n.*2355G>C)
n.750G>C
c.*1128G>C (n.*1128G>C)
c.1457G>C
c.2652+4G>C (n.2652+4G>C)
c.2644G>C (p.Glu882Gln)
c.2626G>C (p.Glu876Gln)
c.2365G>C (p.Glu789Gln)
c.709G>C
c.2776G>C (p.Glu926Gln)
c.2758G>C (p.Glu920Gln)
c.2437G>C (p.Glu813Gln)
c.2305G>C (p.Glu769Gln)
c.2302G>C (p.Glu768Gln)
c.2386G>C (p.Glu796Gln)
c.2317G>C (p.Glu773Gln)
c.1300G>C (p.Glu434Gln)
12g.55693209C>TCA147560ITGA7c.*2268G>A (n.*2268G>A)
c.1315G>A
n.2059G>A
c.2170G>A (p.Glu724Lys)
c.2656G>A (p.Glu886Lys)
c.*2355G>A (n.*2355G>A)
n.750G>A
c.*1128G>A (n.*1128G>A)
c.1457G>A
c.2652+4G>A (n.2652+4G>A)
c.2644G>A (p.Glu882Lys)
c.2626G>A (p.Glu876Lys)
c.2365G>A (p.Glu789Lys)
c.709G>A
c.2776G>A (p.Glu926Lys)
c.2758G>A (p.Glu920Lys)
c.2437G>A (p.Glu813Lys)
c.2305G>A (p.Glu769Lys)
c.2302G>A (p.Glu768Lys)
c.2386G>A (p.Glu796Lys)
c.2317G>A (p.Glu773Lys)
c.1300G>A (p.Glu434Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
12g.55693210A=CA2038035855ITGA7c.*2267T= (n.*2267T=)
c.1314T=
n.2058T=
c.2169T= (p.Val723=)
c.2655T= (p.Val885=)
c.*2354T= (n.*2354T=)
n.749T=
c.*1127T= (n.*1127T=)
c.1456T=
c.2652+3T= (n.2652+3T=)
c.2643T= (p.Val881=)
c.2625T= (p.Val875=)
c.2364T= (p.Val788=)
c.708T=
c.2775T= (p.Val925=)
c.2757T= (p.Val919=)
c.2436T= (p.Val812=)
c.2304T= (p.Val768=)
c.2301T= (p.Val767=)
c.2385T= (p.Val795=)
c.2316T= (p.Val772=)
c.1299T= (p.Val433=)
12g.55693210A>CCA237564126ITGA7c.*2267T>G (n.*2267T>G)
c.1314T>G
n.2058T>G
c.2169T>G (p.Val723=)
c.2655T>G (p.Val885=)
c.*2354T>G (n.*2354T>G)
n.749T>G
c.*1127T>G (n.*1127T>G)
c.1456T>G
c.2652+3T>G (n.2652+3T>G)
c.2643T>G (p.Val881=)
c.2625T>G (p.Val875=)
c.2364T>G (p.Val788=)
c.708T>G
c.2775T>G (p.Val925=)
c.2757T>G (p.Val919=)
c.2436T>G (p.Val812=)
c.2304T>G (p.Val768=)
c.2301T>G (p.Val767=)
c.2385T>G (p.Val795=)
c.2316T>G (p.Val772=)
c.1299T>G (p.Val433=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693210A>GCA480145358ITGA7c.*2267T>C (n.*2267T>C)
c.1314T>C
n.2058T>C
c.2169T>C (p.Val723=)
c.2655T>C (p.Val885=)
c.*2354T>C (n.*2354T>C)
n.749T>C
c.*1127T>C (n.*1127T>C)
c.1456T>C
c.2652+3T>C (n.2652+3T>C)
c.2643T>C (p.Val881=)
c.2625T>C (p.Val875=)
c.2364T>C (p.Val788=)
c.708T>C
c.2775T>C (p.Val925=)
c.2757T>C (p.Val919=)
c.2436T>C (p.Val812=)
c.2304T>C (p.Val768=)
c.2301T>C (p.Val767=)
c.2385T>C (p.Val795=)
c.2316T>C (p.Val772=)
c.1299T>C (p.Val433=)
12g.55693210A>TCA480145359ITGA7c.*2267T>A (n.*2267T>A)
c.1314T>A
n.2058T>A
c.2169T>A (p.Val723=)
c.2655T>A (p.Val885=)
c.*2354T>A (n.*2354T>A)
n.749T>A
c.*1127T>A (n.*1127T>A)
c.1456T>A
c.2652+3T>A (n.2652+3T>A)
c.2643T>A (p.Val881=)
c.2625T>A (p.Val875=)
c.2364T>A (p.Val788=)
c.708T>A
c.2775T>A (p.Val925=)
c.2757T>A (p.Val919=)
c.2436T>A (p.Val812=)
c.2304T>A (p.Val768=)
c.2301T>A (p.Val767=)
c.2385T>A (p.Val795=)
c.2316T>A (p.Val772=)
c.1299T>A (p.Val433=)
 dbSNP
12g.55693211A=CA2038035863ITGA7c.*2266T= (n.*2266T=)
c.1313T=
n.2057T=
c.2168T= (p.Val723=)
c.2654T= (p.Val885=)
c.*2353T= (n.*2353T=)
n.748T=
c.*1126T= (n.*1126T=)
c.1455T=
c.2652+2T= (n.2652+2T=)
c.2642T= (p.Val881=)
c.2624T= (p.Val875=)
c.2363T= (p.Val788=)
c.707T=
c.2774T= (p.Val925=)
c.2756T= (p.Val919=)
c.2435T= (p.Val812=)
c.2303T= (p.Val768=)
c.2300T= (p.Val767=)
c.2384T= (p.Val795=)
c.2315T= (p.Val772=)
c.1298T= (p.Val433=)
12g.55693211A>CCA385181605ITGA7c.*2266T>G (n.*2266T>G)
c.1313T>G
n.2057T>G
c.2168T>G (p.Val723Gly)
c.2654T>G (p.Val885Gly)
c.*2353T>G (n.*2353T>G)
n.748T>G
c.*1126T>G (n.*1126T>G)
c.1455T>G
c.2652+2T>G (n.2652+2T>G)
c.2642T>G (p.Val881Gly)
c.2624T>G (p.Val875Gly)
c.2363T>G (p.Val788Gly)
c.707T>G
c.2774T>G (p.Val925Gly)
c.2756T>G (p.Val919Gly)
c.2435T>G (p.Val812Gly)
c.2303T>G (p.Val768Gly)
c.2300T>G (p.Val767Gly)
c.2384T>G (p.Val795Gly)
c.2315T>G (p.Val772Gly)
c.1298T>G (p.Val433Gly)
12g.55693211A>GCA385181606ITGA7c.*2266T>C (n.*2266T>C)
c.1313T>C
n.2057T>C
c.2168T>C (p.Val723Ala)
c.2654T>C (p.Val885Ala)
c.*2353T>C (n.*2353T>C)
n.748T>C
c.*1126T>C (n.*1126T>C)
c.1455T>C
c.2652+2T>C (n.2652+2T>C)
c.2642T>C (p.Val881Ala)
c.2624T>C (p.Val875Ala)
c.2363T>C (p.Val788Ala)
c.707T>C
c.2774T>C (p.Val925Ala)
c.2756T>C (p.Val919Ala)
c.2435T>C (p.Val812Ala)
c.2303T>C (p.Val768Ala)
c.2300T>C (p.Val767Ala)
c.2384T>C (p.Val795Ala)
c.2315T>C (p.Val772Ala)
c.1298T>C (p.Val433Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693211A>TCA241926ITGA7c.*2266T>A (n.*2266T>A)
c.1313T>A
n.2057T>A
c.2168T>A (p.Val723Asp)
c.2654T>A (p.Val885Asp)
c.*2353T>A (n.*2353T>A)
n.748T>A
c.*1126T>A (n.*1126T>A)
c.1455T>A
c.2652+2T>A (n.2652+2T>A)
c.2642T>A (p.Val881Asp)
c.2624T>A (p.Val875Asp)
c.2363T>A (p.Val788Asp)
c.707T>A
c.2774T>A (p.Val925Asp)
c.2756T>A (p.Val919Asp)
c.2435T>A (p.Val812Asp)
c.2303T>A (p.Val768Asp)
c.2300T>A (p.Val767Asp)
c.2384T>A (p.Val795Asp)
c.2315T>A (p.Val772Asp)
c.1298T>A (p.Val433Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.55693212C>ACA385181607ITGA7c.*2265G>T (n.*2265G>T)
c.1312G>T
n.2056G>T
c.2167G>T (p.Val723Phe)
c.2653G>T (p.Val885Phe)
c.*2352G>T (n.*2352G>T)
n.747G>T
c.*1125G>T (n.*1125G>T)
c.1454G>T
c.2652+1G>T (n.2652+1G>T)
c.2641G>T (p.Val881Phe)
c.2623G>T (p.Val875Phe)
c.2362G>T (p.Val788Phe)
c.706G>T
c.2773G>T (p.Val925Phe)
c.2755G>T (p.Val919Phe)
c.2434G>T (p.Val812Phe)
c.2302G>T (p.Val768Phe)
c.2299G>T (p.Val767Phe)
c.2383G>T (p.Val795Phe)
c.2314G>T (p.Val772Phe)
c.1297G>T (p.Val433Phe)
12g.55693212C>GCA385181608ITGA7c.*2265G>C (n.*2265G>C)
c.1312G>C
n.2056G>C
c.2167G>C (p.Val723Leu)
c.2653G>C (p.Val885Leu)
c.*2352G>C (n.*2352G>C)
n.747G>C
c.*1125G>C (n.*1125G>C)
c.1454G>C
c.2652+1G>C (n.2652+1G>C)
c.2641G>C (p.Val881Leu)
c.2623G>C (p.Val875Leu)
c.2362G>C (p.Val788Leu)
c.706G>C
c.2773G>C (p.Val925Leu)
c.2755G>C (p.Val919Leu)
c.2434G>C (p.Val812Leu)
c.2302G>C (p.Val768Leu)
c.2299G>C (p.Val767Leu)
c.2383G>C (p.Val795Leu)
c.2314G>C (p.Val772Leu)
c.1297G>C (p.Val433Leu)
12g.55693212C>TCA385181609ITGA7c.*2265G>A (n.*2265G>A)
c.1312G>A
n.2056G>A
c.2167G>A (p.Val723Ile)
c.2653G>A (p.Val885Ile)
c.*2352G>A (n.*2352G>A)
n.747G>A
c.*1125G>A (n.*1125G>A)
c.1454G>A
c.2652+1G>A (n.2652+1G>A)
c.2641G>A (p.Val881Ile)
c.2623G>A (p.Val875Ile)
c.2362G>A (p.Val788Ile)
c.706G>A
c.2773G>A (p.Val925Ile)
c.2755G>A (p.Val919Ile)
c.2434G>A (p.Val812Ile)
c.2302G>A (p.Val768Ile)
c.2299G>A (p.Val767Ile)
c.2383G>A (p.Val795Ile)
c.2314G>A (p.Val772Ile)
c.1297G>A (p.Val433Ile)
12g.55693213C>ACA385181610ITGA7c.*2264G>T (n.*2264G>T)
c.1311G>T
n.2055G>T
c.2166G>T (p.Gln722His)
c.2652G>T (p.Gln884His)
c.*2351G>T (n.*2351G>T)
n.746G>T
c.*1124G>T (n.*1124G>T)
c.1453G>T
c.2640G>T (p.Gln880His)
c.2622G>T (p.Gln874His)
c.2361G>T (p.Gln787His)
c.705G>T
c.2772G>T (p.Gln924His)
c.2754G>T (p.Gln918His)
c.2433G>T (p.Gln811His)
c.2301G>T (p.Gln767His)
c.2298G>T (p.Gln766His)
c.2382G>T (p.Gln794His)
c.2313G>T (p.Gln771His)
c.1296G>T (p.Gln432His)
12g.55693213C=CA2038035868ITGA7c.*2264G= (n.*2264G=)
c.1311G=
n.2055G=
c.2166G= (p.Gln722=)
c.2652G= (p.Gln884=)
c.*2351G= (n.*2351G=)
n.746G=
c.*1124G= (n.*1124G=)
c.1453G=
c.2640G= (p.Gln880=)
c.2622G= (p.Gln874=)
c.2361G= (p.Gln787=)
c.705G=
c.2772G= (p.Gln924=)
c.2754G= (p.Gln918=)
c.2433G= (p.Gln811=)
c.2301G= (p.Gln767=)
c.2298G= (p.Gln766=)
c.2382G= (p.Gln794=)
c.2313G= (p.Gln771=)
c.1296G= (p.Gln432=)
12g.55693213C>GCA385181611ITGA7c.*2264G>C (n.*2264G>C)
c.1311G>C
n.2055G>C
c.2166G>C (p.Gln722His)
c.2652G>C (p.Gln884His)
c.*2351G>C (n.*2351G>C)
n.746G>C
c.*1124G>C (n.*1124G>C)
c.1453G>C
c.2640G>C (p.Gln880His)
c.2622G>C (p.Gln874His)
c.2361G>C (p.Gln787His)
c.705G>C
c.2772G>C (p.Gln924His)
c.2754G>C (p.Gln918His)
c.2433G>C (p.Gln811His)
c.2301G>C (p.Gln767His)
c.2298G>C (p.Gln766His)
c.2382G>C (p.Gln794His)
c.2313G>C (p.Gln771His)
c.1296G>C (p.Gln432His)
 dbSNP gnomAD v4
12g.55693213C>TCA480145368ITGA7c.*2264G>A (n.*2264G>A)
c.1311G>A
n.2055G>A
c.2166G>A (p.Gln722=)
c.2652G>A (p.Gln884=)
c.*2351G>A (n.*2351G>A)
n.746G>A
c.*1124G>A (n.*1124G>A)
c.1453G>A
c.2640G>A (p.Gln880=)
c.2622G>A (p.Gln874=)
c.2361G>A (p.Gln787=)
c.705G>A
c.2772G>A (p.Gln924=)
c.2754G>A (p.Gln918=)
c.2433G>A (p.Gln811=)
c.2301G>A (p.Gln767=)
c.2298G>A (p.Gln766=)
c.2382G>A (p.Gln794=)
c.2313G>A (p.Gln771=)
c.1296G>A (p.Gln432=)
 dbSNP gnomAD v2 gnomAD v4
12g.55693214T>ACA385181612ITGA7c.*2263A>T (n.*2263A>T)
c.1310A>T
n.2054A>T
c.2165A>T (p.Gln722Leu)
c.2651A>T (p.Gln884Leu)
c.*2350A>T (n.*2350A>T)
n.745A>T
c.*1123A>T (n.*1123A>T)
c.1452A>T
c.2639A>T (p.Gln880Leu)
c.2621A>T (p.Gln874Leu)
c.2360A>T (p.Gln787Leu)
c.704A>T
c.2771A>T (p.Gln924Leu)
c.2753A>T (p.Gln918Leu)
c.2432A>T (p.Gln811Leu)
c.2300A>T (p.Gln767Leu)
c.2297A>T (p.Gln766Leu)
c.2381A>T (p.Gln794Leu)
c.2312A>T (p.Gln771Leu)
c.1295A>T (p.Gln432Leu)
12g.55693214T>CCA385181613ITGA7c.*2263A>G (n.*2263A>G)
c.1310A>G
n.2054A>G
c.2165A>G (p.Gln722Arg)
c.2651A>G (p.Gln884Arg)
c.*2350A>G (n.*2350A>G)
n.745A>G
c.*1123A>G (n.*1123A>G)
c.1452A>G
c.2639A>G (p.Gln880Arg)
c.2621A>G (p.Gln874Arg)
c.2360A>G (p.Gln787Arg)
c.704A>G
c.2771A>G (p.Gln924Arg)
c.2753A>G (p.Gln918Arg)
c.2432A>G (p.Gln811Arg)
c.2300A>G (p.Gln767Arg)
c.2297A>G (p.Gln766Arg)
c.2381A>G (p.Gln794Arg)
c.2312A>G (p.Gln771Arg)
c.1295A>G (p.Gln432Arg)
 dbSNP
12g.55693214T>GCA385181614ITGA7c.*2263A>C (n.*2263A>C)
c.1310A>C
n.2054A>C
c.2165A>C (p.Gln722Pro)
c.2651A>C (p.Gln884Pro)
c.*2350A>C (n.*2350A>C)
n.745A>C
c.*1123A>C (n.*1123A>C)
c.1452A>C
c.2639A>C (p.Gln880Pro)
c.2621A>C (p.Gln874Pro)
c.2360A>C (p.Gln787Pro)
c.704A>C
c.2771A>C (p.Gln924Pro)
c.2753A>C (p.Gln918Pro)
c.2432A>C (p.Gln811Pro)
c.2300A>C (p.Gln767Pro)
c.2297A>C (p.Gln766Pro)
c.2381A>C (p.Gln794Pro)
c.2312A>C (p.Gln771Pro)
c.1295A>C (p.Gln432Pro)
12g.55693215G>ACA385181615ITGA7c.*2262C>T (n.*2262C>T)
c.1309C>T
n.2053C>T
c.2164C>T (p.Gln722Ter)
c.2650C>T (p.Gln884Ter)
c.*2349C>T (n.*2349C>T)
n.744C>T
c.*1122C>T (n.*1122C>T)
c.1451C>T
c.2638C>T (p.Gln880Ter)
c.2620C>T (p.Gln874Ter)
c.2359C>T (p.Gln787Ter)
c.703C>T
c.2770C>T (p.Gln924Ter)
c.2752C>T (p.Gln918Ter)
c.2431C>T (p.Gln811Ter)
c.2299C>T (p.Gln767Ter)
c.2296C>T (p.Gln766Ter)
c.2380C>T (p.Gln794Ter)
c.2311C>T (p.Gln771Ter)
c.1294C>T (p.Gln432Ter)
12g.55693215G>CCA385181617ITGA7c.*2262C>G (n.*2262C>G)
c.1309C>G
n.2053C>G
c.2164C>G (p.Gln722Glu)
c.2650C>G (p.Gln884Glu)
c.*2349C>G (n.*2349C>G)
n.744C>G
c.*1122C>G (n.*1122C>G)
c.1451C>G
c.2638C>G (p.Gln880Glu)
c.2620C>G (p.Gln874Glu)
c.2359C>G (p.Gln787Glu)
c.703C>G
c.2770C>G (p.Gln924Glu)
c.2752C>G (p.Gln918Glu)
c.2431C>G (p.Gln811Glu)
c.2299C>G (p.Gln767Glu)
c.2296C>G (p.Gln766Glu)
c.2380C>G (p.Gln794Glu)
c.2311C>G (p.Gln771Glu)
c.1294C>G (p.Gln432Glu)
 gnomAD v4
12g.55693215G>TCA385181616ITGA7c.*2262C>A (n.*2262C>A)
c.1309C>A
n.2053C>A
c.2164C>A (p.Gln722Lys)
c.2650C>A (p.Gln884Lys)
c.*2349C>A (n.*2349C>A)
n.744C>A
c.*1122C>A (n.*1122C>A)
c.1451C>A
c.2638C>A (p.Gln880Lys)
c.2620C>A (p.Gln874Lys)
c.2359C>A (p.Gln787Lys)
c.703C>A
c.2770C>A (p.Gln924Lys)
c.2752C>A (p.Gln918Lys)
c.2431C>A (p.Gln811Lys)
c.2299C>A (p.Gln767Lys)
c.2296C>A (p.Gln766Lys)
c.2380C>A (p.Gln794Lys)
c.2311C>A (p.Gln771Lys)
c.1294C>A (p.Gln432Lys)
12g.55693216C>ACA385181618ITGA7c.*2261G>T (n.*2261G>T)
c.1308G>T
n.2052G>T
c.2163G>T (p.Met721Ile)
c.2649G>T (p.Met883Ile)
c.*2348G>T (n.*2348G>T)
n.743G>T
c.*1121G>T (n.*1121G>T)
c.1450G>T
c.2637G>T (p.Met879Ile)
c.2619G>T (p.Met873Ile)
c.2358G>T (p.Met786Ile)
c.702G>T
c.2769G>T (p.Met923Ile)
c.2751G>T (p.Met917Ile)
c.2430G>T (p.Met810Ile)
c.2298G>T (p.Met766Ile)
c.2295G>T (p.Met765Ile)
c.2379G>T (p.Met793Ile)
c.2310G>T (p.Met770Ile)
c.1293G>T (p.Met431Ile)
12g.55693216C=CA2038035872ITGA7c.*2261G= (n.*2261G=)
c.1308G=
n.2052G=
c.2163G= (p.Met721=)
c.2649G= (p.Met883=)
c.*2348G= (n.*2348G=)
n.743G=
c.*1121G= (n.*1121G=)
c.1450G=
c.2637G= (p.Met879=)
c.2619G= (p.Met873=)
c.2358G= (p.Met786=)
c.702G=
c.2769G= (p.Met923=)
c.2751G= (p.Met917=)
c.2430G= (p.Met810=)
c.2298G= (p.Met766=)
c.2295G= (p.Met765=)
c.2379G= (p.Met793=)
c.2310G= (p.Met770=)
c.1293G= (p.Met431=)
12g.55693216C>GCA385181619ITGA7c.*2261G>C (n.*2261G>C)
c.1308G>C
n.2052G>C
c.2163G>C (p.Met721Ile)
c.2649G>C (p.Met883Ile)
c.*2348G>C (n.*2348G>C)
n.743G>C
c.*1121G>C (n.*1121G>C)
c.1450G>C
c.2637G>C (p.Met879Ile)
c.2619G>C (p.Met873Ile)
c.2358G>C (p.Met786Ile)
c.702G>C
c.2769G>C (p.Met923Ile)
c.2751G>C (p.Met917Ile)
c.2430G>C (p.Met810Ile)
c.2298G>C (p.Met766Ile)
c.2295G>C (p.Met765Ile)
c.2379G>C (p.Met793Ile)
c.2310G>C (p.Met770Ile)
c.1293G>C (p.Met431Ile)
12g.55693216C>TCA6615520ITGA7c.*2261G>A (n.*2261G>A)
c.1308G>A
n.2052G>A
c.2163G>A (p.Met721Ile)
c.2649G>A (p.Met883Ile)
c.*2348G>A (n.*2348G>A)
n.743G>A
c.*1121G>A (n.*1121G>A)
c.1450G>A
c.2637G>A (p.Met879Ile)
c.2619G>A (p.Met873Ile)
c.2358G>A (p.Met786Ile)
c.702G>A
c.2769G>A (p.Met923Ile)
c.2751G>A (p.Met917Ile)
c.2430G>A (p.Met810Ile)
c.2298G>A (p.Met766Ile)
c.2295G>A (p.Met765Ile)
c.2379G>A (p.Met793Ile)
c.2310G>A (p.Met770Ile)
c.1293G>A (p.Met431Ile)
 dbSNP ExAC gnomAD v2
12g.55693217A>CCA385181620ITGA7c.*2260T>G (n.*2260T>G)
c.1307T>G
n.2051T>G
c.2162T>G (p.Met721Arg)
c.2648T>G (p.Met883Arg)
c.*2347T>G (n.*2347T>G)
n.742T>G
c.*1120T>G (n.*1120T>G)
c.1449T>G
c.2636T>G (p.Met879Arg)
c.2618T>G (p.Met873Arg)
c.2357T>G (p.Met786Arg)
c.701T>G
c.2768T>G (p.Met923Arg)
c.2750T>G (p.Met917Arg)
c.2429T>G (p.Met810Arg)
c.2297T>G (p.Met766Arg)
c.2294T>G (p.Met765Arg)
c.2378T>G (p.Met793Arg)
c.2309T>G (p.Met770Arg)
c.1292T>G (p.Met431Arg)
12g.55693217A>GCA385181621ITGA7c.*2260T>C (n.*2260T>C)
c.1307T>C
n.2051T>C
c.2162T>C (p.Met721Thr)
c.2648T>C (p.Met883Thr)
c.*2347T>C (n.*2347T>C)
n.742T>C
c.*1120T>C (n.*1120T>C)
c.1449T>C
c.2636T>C (p.Met879Thr)
c.2618T>C (p.Met873Thr)
c.2357T>C (p.Met786Thr)
c.701T>C
c.2768T>C (p.Met923Thr)
c.2750T>C (p.Met917Thr)
c.2429T>C (p.Met810Thr)
c.2297T>C (p.Met766Thr)
c.2294T>C (p.Met765Thr)
c.2378T>C (p.Met793Thr)
c.2309T>C (p.Met770Thr)
c.1292T>C (p.Met431Thr)
12g.55693217A>TCA385181622ITGA7c.*2260T>A (n.*2260T>A)
c.1307T>A
n.2051T>A
c.2162T>A (p.Met721Lys)
c.2648T>A (p.Met883Lys)
c.*2347T>A (n.*2347T>A)
n.742T>A
c.*1120T>A (n.*1120T>A)
c.1449T>A
c.2636T>A (p.Met879Lys)
c.2618T>A (p.Met873Lys)
c.2357T>A (p.Met786Lys)
c.701T>A
c.2768T>A (p.Met923Lys)
c.2750T>A (p.Met917Lys)
c.2429T>A (p.Met810Lys)
c.2297T>A (p.Met766Lys)
c.2294T>A (p.Met765Lys)
c.2378T>A (p.Met793Lys)
c.2309T>A (p.Met770Lys)
c.1292T>A (p.Met431Lys)
12g.55693218T>ACA385181623ITGA7c.*2259A>T (n.*2259A>T)
c.1306A>T
n.2050A>T
c.2161A>T (p.Met721Leu)
c.2647A>T (p.Met883Leu)
c.*2346A>T (n.*2346A>T)
n.741A>T
c.*1119A>T (n.*1119A>T)
c.1448A>T
c.2635A>T (p.Met879Leu)
c.2617A>T (p.Met873Leu)
c.2356A>T (p.Met786Leu)
c.700A>T
c.2767A>T (p.Met923Leu)
c.2749A>T (p.Met917Leu)
c.2428A>T (p.Met810Leu)
c.2296A>T (p.Met766Leu)
c.2293A>T (p.Met765Leu)
c.2377A>T (p.Met793Leu)
c.2308A>T (p.Met770Leu)
c.1291A>T (p.Met431Leu)
12g.55693218T>CCA6615521ITGA7c.*2259A>G (n.*2259A>G)
c.1306A>G
n.2050A>G
c.2161A>G (p.Met721Val)
c.2647A>G (p.Met883Val)
c.*2346A>G (n.*2346A>G)
n.741A>G
c.*1119A>G (n.*1119A>G)
c.1448A>G
c.2635A>G (p.Met879Val)
c.2617A>G (p.Met873Val)
c.2356A>G (p.Met786Val)
c.700A>G
c.2767A>G (p.Met923Val)
c.2749A>G (p.Met917Val)
c.2428A>G (p.Met810Val)
c.2296A>G (p.Met766Val)
c.2293A>G (p.Met765Val)
c.2377A>G (p.Met793Val)
c.2308A>G (p.Met770Val)
c.1291A>G (p.Met431Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693218T>GCA385181624ITGA7c.*2259A>C (n.*2259A>C)
c.1306A>C
n.2050A>C
c.2161A>C (p.Met721Leu)
c.2647A>C (p.Met883Leu)
c.*2346A>C (n.*2346A>C)
n.741A>C
c.*1119A>C (n.*1119A>C)
c.1448A>C
c.2635A>C (p.Met879Leu)
c.2617A>C (p.Met873Leu)
c.2356A>C (p.Met786Leu)
c.700A>C
c.2767A>C (p.Met923Leu)
c.2749A>C (p.Met917Leu)
c.2428A>C (p.Met810Leu)
c.2296A>C (p.Met766Leu)
c.2293A>C (p.Met765Leu)
c.2377A>C (p.Met793Leu)
c.2308A>C (p.Met770Leu)
c.1291A>C (p.Met431Leu)
12g.55693218T=CA2038035880ITGA7c.*2259A= (n.*2259A=)
c.1306A=
n.2050A=
c.2161A= (p.Met721=)
c.2647A= (p.Met883=)
c.*2346A= (n.*2346A=)
n.741A=
c.*1119A= (n.*1119A=)
c.1448A=
c.2635A= (p.Met879=)
c.2617A= (p.Met873=)
c.2356A= (p.Met786=)
c.700A=
c.2767A= (p.Met923=)
c.2749A= (p.Met917=)
c.2428A= (p.Met810=)
c.2296A= (p.Met766=)
c.2293A= (p.Met765=)
c.2377A= (p.Met793=)
c.2308A= (p.Met770=)
c.1291A= (p.Met431=)
12g.55693219T>ACA480145387ITGA7c.*2258A>T (n.*2258A>T)
c.1305A>T
n.2049A>T
c.2160A>T (p.Pro720=)
c.2646A>T (p.Pro882=)
c.*2345A>T (n.*2345A>T)
n.740A>T
c.*1118A>T (n.*1118A>T)
c.1447A>T
c.2634A>T (p.Pro878=)
c.2616A>T (p.Pro872=)
c.2355A>T (p.Pro785=)
c.699A>T
c.2766A>T (p.Pro922=)
c.2748A>T (p.Pro916=)
c.2427A>T (p.Pro809=)
c.2295A>T (p.Pro765=)
c.2292A>T (p.Pro764=)
c.2376A>T (p.Pro792=)
c.2307A>T (p.Pro769=)
c.1290A>T (p.Pro430=)
12g.55693219T>CCA480145385ITGA7c.*2258A>G (n.*2258A>G)
c.1305A>G
n.2049A>G
c.2160A>G (p.Pro720=)
c.2646A>G (p.Pro882=)
c.*2345A>G (n.*2345A>G)
n.740A>G
c.*1118A>G (n.*1118A>G)
c.1447A>G
c.2634A>G (p.Pro878=)
c.2616A>G (p.Pro872=)
c.2355A>G (p.Pro785=)
c.699A>G
c.2766A>G (p.Pro922=)
c.2748A>G (p.Pro916=)
c.2427A>G (p.Pro809=)
c.2295A>G (p.Pro765=)
c.2292A>G (p.Pro764=)
c.2376A>G (p.Pro792=)
c.2307A>G (p.Pro769=)
c.1290A>G (p.Pro430=)
12g.55693219T>GCA480145384ITGA7c.*2258A>C (n.*2258A>C)
c.1305A>C
n.2049A>C
c.2160A>C (p.Pro720=)
c.2646A>C (p.Pro882=)
c.*2345A>C (n.*2345A>C)
n.740A>C
c.*1118A>C (n.*1118A>C)
c.1447A>C
c.2634A>C (p.Pro878=)
c.2616A>C (p.Pro872=)
c.2355A>C (p.Pro785=)
c.699A>C
c.2766A>C (p.Pro922=)
c.2748A>C (p.Pro916=)
c.2427A>C (p.Pro809=)
c.2295A>C (p.Pro765=)
c.2292A>C (p.Pro764=)
c.2376A>C (p.Pro792=)
c.2307A>C (p.Pro769=)
c.1290A>C (p.Pro430=)
12g.55693220G>ACA385181626ITGA7c.*2257C>T (n.*2257C>T)
c.1304C>T
n.2048C>T
c.2159C>T (p.Pro720Leu)
c.2645C>T (p.Pro882Leu)
c.*2344C>T (n.*2344C>T)
n.739C>T
c.*1117C>T (n.*1117C>T)
c.1446C>T
c.2633C>T (p.Pro878Leu)
c.2615C>T (p.Pro872Leu)
c.2354C>T (p.Pro785Leu)
c.698C>T
c.2765C>T (p.Pro922Leu)
c.2747C>T (p.Pro916Leu)
c.2426C>T (p.Pro809Leu)
c.2294C>T (p.Pro765Leu)
c.2291C>T (p.Pro764Leu)
c.2375C>T (p.Pro792Leu)
c.2306C>T (p.Pro769Leu)
c.1289C>T (p.Pro430Leu)
12g.55693220G>CCA6615522ITGA7c.*2257C>G (n.*2257C>G)
c.1304C>G
n.2048C>G
c.2159C>G (p.Pro720Arg)
c.2645C>G (p.Pro882Arg)
c.*2344C>G (n.*2344C>G)
n.739C>G
c.*1117C>G (n.*1117C>G)
c.1446C>G
c.2633C>G (p.Pro878Arg)
c.2615C>G (p.Pro872Arg)
c.2354C>G (p.Pro785Arg)
c.698C>G
c.2765C>G (p.Pro922Arg)
c.2747C>G (p.Pro916Arg)
c.2426C>G (p.Pro809Arg)
c.2294C>G (p.Pro765Arg)
c.2291C>G (p.Pro764Arg)
c.2375C>G (p.Pro792Arg)
c.2306C>G (p.Pro769Arg)
c.1289C>G (p.Pro430Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693220G=CA2038035884ITGA7c.*2257C= (n.*2257C=)
c.1304C=
n.2048C=
c.2159C= (p.Pro720=)
c.2645C= (p.Pro882=)
c.*2344C= (n.*2344C=)
n.739C=
c.*1117C= (n.*1117C=)
c.1446C=
c.2633C= (p.Pro878=)
c.2615C= (p.Pro872=)
c.2354C= (p.Pro785=)
c.698C=
c.2765C= (p.Pro922=)
c.2747C= (p.Pro916=)
c.2426C= (p.Pro809=)
c.2294C= (p.Pro765=)
c.2291C= (p.Pro764=)
c.2375C= (p.Pro792=)
c.2306C= (p.Pro769=)
c.1289C= (p.Pro430=)
12g.55693220G>TCA385181625ITGA7c.*2257C>A (n.*2257C>A)
c.1304C>A
n.2048C>A
c.2159C>A (p.Pro720Gln)
c.2645C>A (p.Pro882Gln)
c.*2344C>A (n.*2344C>A)
n.739C>A
c.*1117C>A (n.*1117C>A)
c.1446C>A
c.2633C>A (p.Pro878Gln)
c.2615C>A (p.Pro872Gln)
c.2354C>A (p.Pro785Gln)
c.698C>A
c.2765C>A (p.Pro922Gln)
c.2747C>A (p.Pro916Gln)
c.2426C>A (p.Pro809Gln)
c.2294C>A (p.Pro765Gln)
c.2291C>A (p.Pro764Gln)
c.2375C>A (p.Pro792Gln)
c.2306C>A (p.Pro769Gln)
c.1289C>A (p.Pro430Gln)
12g.55693221G>ACA385181627ITGA7c.*2256C>T (n.*2256C>T)
c.1303C>T
n.2047C>T
c.2158C>T (p.Pro720Ser)
c.2644C>T (p.Pro882Ser)
c.*2343C>T (n.*2343C>T)
n.738C>T
c.*1116C>T (n.*1116C>T)
c.1445C>T
c.2632C>T (p.Pro878Ser)
c.2614C>T (p.Pro872Ser)
c.2353C>T (p.Pro785Ser)
c.697C>T
c.2764C>T (p.Pro922Ser)
c.2746C>T (p.Pro916Ser)
c.2425C>T (p.Pro809Ser)
c.2293C>T (p.Pro765Ser)
c.2290C>T (p.Pro764Ser)
c.2374C>T (p.Pro792Ser)
c.2305C>T (p.Pro769Ser)
c.1288C>T (p.Pro430Ser)
12g.55693221G>CCA385181628ITGA7c.*2256C>G (n.*2256C>G)
c.1303C>G
n.2047C>G
c.2158C>G (p.Pro720Ala)
c.2644C>G (p.Pro882Ala)
c.*2343C>G (n.*2343C>G)
n.738C>G
c.*1116C>G (n.*1116C>G)
c.1445C>G
c.2632C>G (p.Pro878Ala)
c.2614C>G (p.Pro872Ala)
c.2353C>G (p.Pro785Ala)
c.697C>G
c.2764C>G (p.Pro922Ala)
c.2746C>G (p.Pro916Ala)
c.2425C>G (p.Pro809Ala)
c.2293C>G (p.Pro765Ala)
c.2290C>G (p.Pro764Ala)
c.2374C>G (p.Pro792Ala)
c.2305C>G (p.Pro769Ala)
c.1288C>G (p.Pro430Ala)
12g.55693221G>TCA385181629ITGA7c.*2256C>A (n.*2256C>A)
c.1303C>A
n.2047C>A
c.2158C>A (p.Pro720Thr)
c.2644C>A (p.Pro882Thr)
c.*2343C>A (n.*2343C>A)
n.738C>A
c.*1116C>A (n.*1116C>A)
c.1445C>A
c.2632C>A (p.Pro878Thr)
c.2614C>A (p.Pro872Thr)
c.2353C>A (p.Pro785Thr)
c.697C>A
c.2764C>A (p.Pro922Thr)
c.2746C>A (p.Pro916Thr)
c.2425C>A (p.Pro809Thr)
c.2293C>A (p.Pro765Thr)
c.2290C>A (p.Pro764Thr)
c.2374C>A (p.Pro792Thr)
c.2305C>A (p.Pro769Thr)
c.1288C>A (p.Pro430Thr)
12g.55693222G>ACA480145395ITGA7c.*2255C>T (n.*2255C>T)
c.1302C>T
n.2046C>T
c.2157C>T (p.Tyr719=)
c.2643C>T (p.Tyr881=)
c.*2342C>T (n.*2342C>T)
n.737C>T
c.*1115C>T (n.*1115C>T)
c.1444C>T
c.2631C>T (p.Tyr877=)
c.2613C>T (p.Tyr871=)
c.2352C>T (p.Tyr784=)
c.696C>T
c.2763C>T (p.Tyr921=)
c.2745C>T (p.Tyr915=)
c.2424C>T (p.Tyr808=)
c.2292C>T (p.Tyr764=)
c.2289C>T (p.Tyr763=)
c.2373C>T (p.Tyr791=)
c.2304C>T (p.Tyr768=)
c.1287C>T (p.Tyr429=)
 gnomAD v4
12g.55693222G>CCA385181630ITGA7c.*2255C>G (n.*2255C>G)
c.1302C>G
n.2046C>G
c.2157C>G (p.Tyr719Ter)
c.2643C>G (p.Tyr881Ter)
c.*2342C>G (n.*2342C>G)
n.737C>G
c.*1115C>G (n.*1115C>G)
c.1444C>G
c.2631C>G (p.Tyr877Ter)
c.2613C>G (p.Tyr871Ter)
c.2352C>G (p.Tyr784Ter)
c.696C>G
c.2763C>G (p.Tyr921Ter)
c.2745C>G (p.Tyr915Ter)
c.2424C>G (p.Tyr808Ter)
c.2292C>G (p.Tyr764Ter)
c.2289C>G (p.Tyr763Ter)
c.2373C>G (p.Tyr791Ter)
c.2304C>G (p.Tyr768Ter)
c.1287C>G (p.Tyr429Ter)
12g.55693222G>TCA385181631ITGA7c.*2255C>A (n.*2255C>A)
c.1302C>A
n.2046C>A
c.2157C>A (p.Tyr719Ter)
c.2643C>A (p.Tyr881Ter)
c.*2342C>A (n.*2342C>A)
n.737C>A
c.*1115C>A (n.*1115C>A)
c.1444C>A
c.2631C>A (p.Tyr877Ter)
c.2613C>A (p.Tyr871Ter)
c.2352C>A (p.Tyr784Ter)
c.696C>A
c.2763C>A (p.Tyr921Ter)
c.2745C>A (p.Tyr915Ter)
c.2424C>A (p.Tyr808Ter)
c.2292C>A (p.Tyr764Ter)
c.2289C>A (p.Tyr763Ter)
c.2373C>A (p.Tyr791Ter)
c.2304C>A (p.Tyr768Ter)
c.1287C>A (p.Tyr429Ter)
12g.55693223T>ACA385181632ITGA7c.*2254A>T (n.*2254A>T)
c.1301A>T
n.2045A>T
c.2156A>T (p.Tyr719Phe)
c.2642A>T (p.Tyr881Phe)
c.*2341A>T (n.*2341A>T)
n.736A>T
c.*1114A>T (n.*1114A>T)
c.1443A>T
c.2630A>T (p.Tyr877Phe)
c.2612A>T (p.Tyr871Phe)
c.2351A>T (p.Tyr784Phe)
c.695A>T
c.2762A>T (p.Tyr921Phe)
c.2744A>T (p.Tyr915Phe)
c.2423A>T (p.Tyr808Phe)
c.2291A>T (p.Tyr764Phe)
c.2288A>T (p.Tyr763Phe)
c.2372A>T (p.Tyr791Phe)
c.2303A>T (p.Tyr768Phe)
c.1286A>T (p.Tyr429Phe)
12g.55693223T>CCA385181633ITGA7c.*2254A>G (n.*2254A>G)
c.1301A>G
n.2045A>G
c.2156A>G (p.Tyr719Cys)
c.2642A>G (p.Tyr881Cys)
c.*2341A>G (n.*2341A>G)
n.736A>G
c.*1114A>G (n.*1114A>G)
c.1443A>G
c.2630A>G (p.Tyr877Cys)
c.2612A>G (p.Tyr871Cys)
c.2351A>G (p.Tyr784Cys)
c.695A>G
c.2762A>G (p.Tyr921Cys)
c.2744A>G (p.Tyr915Cys)
c.2423A>G (p.Tyr808Cys)
c.2291A>G (p.Tyr764Cys)
c.2288A>G (p.Tyr763Cys)
c.2372A>G (p.Tyr791Cys)
c.2303A>G (p.Tyr768Cys)
c.1286A>G (p.Tyr429Cys)
12g.55693223T>GCA385181634ITGA7c.*2254A>C (n.*2254A>C)
c.1301A>C
n.2045A>C
c.2156A>C (p.Tyr719Ser)
c.2642A>C (p.Tyr881Ser)
c.*2341A>C (n.*2341A>C)
n.736A>C
c.*1114A>C (n.*1114A>C)
c.1443A>C
c.2630A>C (p.Tyr877Ser)
c.2612A>C (p.Tyr871Ser)
c.2351A>C (p.Tyr784Ser)
c.695A>C
c.2762A>C (p.Tyr921Ser)
c.2744A>C (p.Tyr915Ser)
c.2423A>C (p.Tyr808Ser)
c.2291A>C (p.Tyr764Ser)
c.2288A>C (p.Tyr763Ser)
c.2372A>C (p.Tyr791Ser)
c.2303A>C (p.Tyr768Ser)
c.1286A>C (p.Tyr429Ser)
12g.55693224A>CCA385181635ITGA7c.*2253T>G (n.*2253T>G)
c.1300T>G
n.2044T>G
c.2155T>G (p.Tyr719Asp)
c.2641T>G (p.Tyr881Asp)
c.*2340T>G (n.*2340T>G)
n.735T>G
c.*1113T>G (n.*1113T>G)
c.1442T>G
c.2629T>G (p.Tyr877Asp)
c.2611T>G (p.Tyr871Asp)
c.2350T>G (p.Tyr784Asp)
c.694T>G
c.2761T>G (p.Tyr921Asp)
c.2743T>G (p.Tyr915Asp)
c.2422T>G (p.Tyr808Asp)
c.2290T>G (p.Tyr764Asp)
c.2287T>G (p.Tyr763Asp)
c.2371T>G (p.Tyr791Asp)
c.2302T>G (p.Tyr768Asp)
c.1285T>G (p.Tyr429Asp)
12g.55693224A>GCA385181636ITGA7c.*2253T>C (n.*2253T>C)
c.1300T>C
n.2044T>C
c.2155T>C (p.Tyr719His)
c.2641T>C (p.Tyr881His)
c.*2340T>C (n.*2340T>C)
n.735T>C
c.*1113T>C (n.*1113T>C)
c.1442T>C
c.2629T>C (p.Tyr877His)
c.2611T>C (p.Tyr871His)
c.2350T>C (p.Tyr784His)
c.694T>C
c.2761T>C (p.Tyr921His)
c.2743T>C (p.Tyr915His)
c.2422T>C (p.Tyr808His)
c.2290T>C (p.Tyr764His)
c.2287T>C (p.Tyr763His)
c.2371T>C (p.Tyr791His)
c.2302T>C (p.Tyr768His)
c.1285T>C (p.Tyr429His)
12g.55693224A>TCA385181637ITGA7c.*2253T>A (n.*2253T>A)
c.1300T>A
n.2044T>A
c.2155T>A (p.Tyr719Asn)
c.2641T>A (p.Tyr881Asn)
c.*2340T>A (n.*2340T>A)
n.735T>A
c.*1113T>A (n.*1113T>A)
c.1442T>A
c.2629T>A (p.Tyr877Asn)
c.2611T>A (p.Tyr871Asn)
c.2350T>A (p.Tyr784Asn)
c.694T>A
c.2761T>A (p.Tyr921Asn)
c.2743T>A (p.Tyr915Asn)
c.2422T>A (p.Tyr808Asn)
c.2290T>A (p.Tyr764Asn)
c.2287T>A (p.Tyr763Asn)
c.2371T>A (p.Tyr791Asn)
c.2302T>A (p.Tyr768Asn)
c.1285T>A (p.Tyr429Asn)
12g.55693225C>ACA480145403ITGA7c.*2252G>T (n.*2252G>T)
c.1299G>T
n.2043G>T
c.2154G>T (p.Leu718=)
c.2640G>T (p.Leu880=)
c.*2339G>T (n.*2339G>T)
n.734G>T
c.*1112G>T (n.*1112G>T)
c.1441G>T
c.2628G>T (p.Leu876=)
c.2610G>T (p.Leu870=)
c.2349G>T (p.Leu783=)
c.693G>T
c.2760G>T (p.Leu920=)
c.2742G>T (p.Leu914=)
c.2421G>T (p.Leu807=)
c.2289G>T (p.Leu763=)
c.2286G>T (p.Leu762=)
c.2370G>T (p.Leu790=)
c.2301G>T (p.Leu767=)
c.1284G>T (p.Leu428=)
12g.55693225C=CA2038035888ITGA7c.*2252G= (n.*2252G=)
c.1299G=
n.2043G=
c.2154G= (p.Leu718=)
c.2640G= (p.Leu880=)
c.*2339G= (n.*2339G=)
n.734G=
c.*1112G= (n.*1112G=)
c.1441G=
c.2628G= (p.Leu876=)
c.2610G= (p.Leu870=)
c.2349G= (p.Leu783=)
c.693G=
c.2760G= (p.Leu920=)
c.2742G= (p.Leu914=)
c.2421G= (p.Leu807=)
c.2289G= (p.Leu763=)
c.2286G= (p.Leu762=)
c.2370G= (p.Leu790=)
c.2301G= (p.Leu767=)
c.1284G= (p.Leu428=)
12g.55693225C>GCA480145406ITGA7c.*2252G>C (n.*2252G>C)
c.1299G>C
n.2043G>C
c.2154G>C (p.Leu718=)
c.2640G>C (p.Leu880=)
c.*2339G>C (n.*2339G>C)
n.734G>C
c.*1112G>C (n.*1112G>C)
c.1441G>C
c.2628G>C (p.Leu876=)
c.2610G>C (p.Leu870=)
c.2349G>C (p.Leu783=)
c.693G>C
c.2760G>C (p.Leu920=)
c.2742G>C (p.Leu914=)
c.2421G>C (p.Leu807=)
c.2289G>C (p.Leu763=)
c.2286G>C (p.Leu762=)
c.2370G>C (p.Leu790=)
c.2301G>C (p.Leu767=)
c.1284G>C (p.Leu428=)
12g.55693225C>TCA480145404ITGA7c.*2252G>A (n.*2252G>A)
c.1299G>A
n.2043G>A
c.2154G>A (p.Leu718=)
c.2640G>A (p.Leu880=)
c.*2339G>A (n.*2339G>A)
n.734G>A
c.*1112G>A (n.*1112G>A)
c.1441G>A
c.2628G>A (p.Leu876=)
c.2610G>A (p.Leu870=)
c.2349G>A (p.Leu783=)
c.693G>A
c.2760G>A (p.Leu920=)
c.2742G>A (p.Leu914=)
c.2421G>A (p.Leu807=)
c.2289G>A (p.Leu763=)
c.2286G>A (p.Leu762=)
c.2370G>A (p.Leu790=)
c.2301G>A (p.Leu767=)
c.1284G>A (p.Leu428=)
 ClinVar dbSNP gnomAD v4
12g.55693226A>CCA385181640ITGA7c.*2251T>G (n.*2251T>G)
c.1298T>G
n.2042T>G
c.2153T>G (p.Leu718Arg)
c.2639T>G (p.Leu880Arg)
c.*2338T>G (n.*2338T>G)
n.733T>G
c.*1111T>G (n.*1111T>G)
c.1440T>G
c.2627T>G (p.Leu876Arg)
c.2609T>G (p.Leu870Arg)
c.2348T>G (p.Leu783Arg)
c.692T>G
c.2759T>G (p.Leu920Arg)
c.2741T>G (p.Leu914Arg)
c.2420T>G (p.Leu807Arg)
c.2288T>G (p.Leu763Arg)
c.2285T>G (p.Leu762Arg)
c.2369T>G (p.Leu790Arg)
c.2300T>G (p.Leu767Arg)
c.1283T>G (p.Leu428Arg)
12g.55693226A>GCA385181639ITGA7c.*2251T>C (n.*2251T>C)
c.1298T>C
n.2042T>C
c.2153T>C (p.Leu718Pro)
c.2639T>C (p.Leu880Pro)
c.*2338T>C (n.*2338T>C)
n.733T>C
c.*1111T>C (n.*1111T>C)
c.1440T>C
c.2627T>C (p.Leu876Pro)
c.2609T>C (p.Leu870Pro)
c.2348T>C (p.Leu783Pro)
c.692T>C
c.2759T>C (p.Leu920Pro)
c.2741T>C (p.Leu914Pro)
c.2420T>C (p.Leu807Pro)
c.2288T>C (p.Leu763Pro)
c.2285T>C (p.Leu762Pro)
c.2369T>C (p.Leu790Pro)
c.2300T>C (p.Leu767Pro)
c.1283T>C (p.Leu428Pro)
 gnomAD v4
12g.55693226A>TCA385181638ITGA7c.*2251T>A (n.*2251T>A)
c.1298T>A
n.2042T>A
c.2153T>A (p.Leu718Gln)
c.2639T>A (p.Leu880Gln)
c.*2338T>A (n.*2338T>A)
n.733T>A
c.*1111T>A (n.*1111T>A)
c.1440T>A
c.2627T>A (p.Leu876Gln)
c.2609T>A (p.Leu870Gln)
c.2348T>A (p.Leu783Gln)
c.692T>A
c.2759T>A (p.Leu920Gln)
c.2741T>A (p.Leu914Gln)
c.2420T>A (p.Leu807Gln)
c.2288T>A (p.Leu763Gln)
c.2285T>A (p.Leu762Gln)
c.2369T>A (p.Leu790Gln)
c.2300T>A (p.Leu767Gln)
c.1283T>A (p.Leu428Gln)
12g.55693227G>ACA480145411ITGA7c.*2250C>T (n.*2250C>T)
c.1297C>T
n.2041C>T
c.2152C>T (p.Leu718=)
c.2638C>T (p.Leu880=)
c.*2337C>T (n.*2337C>T)
n.732C>T
c.*1110C>T (n.*1110C>T)
c.1439C>T
c.2626C>T (p.Leu876=)
c.2608C>T (p.Leu870=)
c.2347C>T (p.Leu783=)
c.691C>T
c.2758C>T (p.Leu920=)
c.2740C>T (p.Leu914=)
c.2419C>T (p.Leu807=)
c.2287C>T (p.Leu763=)
c.2284C>T (p.Leu762=)
c.2368C>T (p.Leu790=)
c.2299C>T (p.Leu767=)
c.1282C>T (p.Leu428=)
12g.55693227G>CCA385181641ITGA7c.*2250C>G (n.*2250C>G)
c.1297C>G
n.2041C>G
c.2152C>G (p.Leu718Val)
c.2638C>G (p.Leu880Val)
c.*2337C>G (n.*2337C>G)
n.732C>G
c.*1110C>G (n.*1110C>G)
c.1439C>G
c.2626C>G (p.Leu876Val)
c.2608C>G (p.Leu870Val)
c.2347C>G (p.Leu783Val)
c.691C>G
c.2758C>G (p.Leu920Val)
c.2740C>G (p.Leu914Val)
c.2419C>G (p.Leu807Val)
c.2287C>G (p.Leu763Val)
c.2284C>G (p.Leu762Val)
c.2368C>G (p.Leu790Val)
c.2299C>G (p.Leu767Val)
c.1282C>G (p.Leu428Val)
12g.55693227G>TCA385181642ITGA7c.*2250C>A (n.*2250C>A)
c.1297C>A
n.2041C>A
c.2152C>A (p.Leu718Met)
c.2638C>A (p.Leu880Met)
c.*2337C>A (n.*2337C>A)
n.732C>A
c.*1110C>A (n.*1110C>A)
c.1439C>A
c.2626C>A (p.Leu876Met)
c.2608C>A (p.Leu870Met)
c.2347C>A (p.Leu783Met)
c.691C>A
c.2758C>A (p.Leu920Met)
c.2740C>A (p.Leu914Met)
c.2419C>A (p.Leu807Met)
c.2287C>A (p.Leu763Met)
c.2284C>A (p.Leu762Met)
c.2368C>A (p.Leu790Met)
c.2299C>A (p.Leu767Met)
c.1282C>A (p.Leu428Met)
12g.55693228C>ACA385181643ITGA7c.*2249G>T (n.*2249G>T)
c.1296G>T
n.2040G>T
c.2151G>T (p.Leu717Phe)
c.2637G>T (p.Leu879Phe)
c.*2336G>T (n.*2336G>T)
n.731G>T
c.*1109G>T (n.*1109G>T)
c.1438G>T
c.2625G>T (p.Leu875Phe)
c.2607G>T (p.Leu869Phe)
c.2346G>T (p.Leu782Phe)
c.690G>T
c.2757G>T (p.Leu919Phe)
c.2739G>T (p.Leu913Phe)
c.2418G>T (p.Leu806Phe)
c.2286G>T (p.Leu762Phe)
c.2283G>T (p.Leu761Phe)
c.2367G>T (p.Leu789Phe)
c.2298G>T (p.Leu766Phe)
c.1281G>T (p.Leu427Phe)
12g.55693228C=CA2038035902ITGA7c.*2249G= (n.*2249G=)
c.1296G=
n.2040G=
c.2151G= (p.Leu717=)
c.2637G= (p.Leu879=)
c.*2336G= (n.*2336G=)
n.731G=
c.*1109G= (n.*1109G=)
c.1438G=
c.2625G= (p.Leu875=)
c.2607G= (p.Leu869=)
c.2346G= (p.Leu782=)
c.690G=
c.2757G= (p.Leu919=)
c.2739G= (p.Leu913=)
c.2418G= (p.Leu806=)
c.2286G= (p.Leu762=)
c.2283G= (p.Leu761=)
c.2367G= (p.Leu789=)
c.2298G= (p.Leu766=)
c.1281G= (p.Leu427=)
12g.55693228C>GCA385181644ITGA7c.*2249G>C (n.*2249G>C)
c.1296G>C
n.2040G>C
c.2151G>C (p.Leu717Phe)
c.2637G>C (p.Leu879Phe)
c.*2336G>C (n.*2336G>C)
n.731G>C
c.*1109G>C (n.*1109G>C)
c.1438G>C
c.2625G>C (p.Leu875Phe)
c.2607G>C (p.Leu869Phe)
c.2346G>C (p.Leu782Phe)
c.690G>C
c.2757G>C (p.Leu919Phe)
c.2739G>C (p.Leu913Phe)
c.2418G>C (p.Leu806Phe)
c.2286G>C (p.Leu762Phe)
c.2283G>C (p.Leu761Phe)
c.2367G>C (p.Leu789Phe)
c.2298G>C (p.Leu766Phe)
c.1281G>C (p.Leu427Phe)
 gnomAD v4
12g.55693228C>TCA6615523ITGA7c.*2249G>A (n.*2249G>A)
c.1296G>A
n.2040G>A
c.2151G>A (p.Leu717=)
c.2637G>A (p.Leu879=)
c.*2336G>A (n.*2336G>A)
n.731G>A
c.*1109G>A (n.*1109G>A)
c.1438G>A
c.2625G>A (p.Leu875=)
c.2607G>A (p.Leu869=)
c.2346G>A (p.Leu782=)
c.690G>A
c.2757G>A (p.Leu919=)
c.2739G>A (p.Leu913=)
c.2418G>A (p.Leu806=)
c.2286G>A (p.Leu762=)
c.2283G>A (p.Leu761=)
c.2367G>A (p.Leu789=)
c.2298G>A (p.Leu766=)
c.1281G>A (p.Leu427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693229A>CCA385181645ITGA7c.*2248T>G (n.*2248T>G)
c.1295T>G
n.2039T>G
c.2150T>G (p.Leu717Trp)
c.2636T>G (p.Leu879Trp)
c.*2335T>G (n.*2335T>G)
n.730T>G
c.*1108T>G (n.*1108T>G)
c.1437T>G
c.2624T>G (p.Leu875Trp)
c.2606T>G (p.Leu869Trp)
c.2345T>G (p.Leu782Trp)
c.689T>G
c.2756T>G (p.Leu919Trp)
c.2738T>G (p.Leu913Trp)
c.2417T>G (p.Leu806Trp)
c.2285T>G (p.Leu762Trp)
c.2282T>G (p.Leu761Trp)
c.2366T>G (p.Leu789Trp)
c.2297T>G (p.Leu766Trp)
c.1280T>G (p.Leu427Trp)
12g.55693229A>GCA385181646ITGA7c.*2248T>C (n.*2248T>C)
c.1295T>C
n.2039T>C
c.2150T>C (p.Leu717Ser)
c.2636T>C (p.Leu879Ser)
c.*2335T>C (n.*2335T>C)
n.730T>C
c.*1108T>C (n.*1108T>C)
c.1437T>C
c.2624T>C (p.Leu875Ser)
c.2606T>C (p.Leu869Ser)
c.2345T>C (p.Leu782Ser)
c.689T>C
c.2756T>C (p.Leu919Ser)
c.2738T>C (p.Leu913Ser)
c.2417T>C (p.Leu806Ser)
c.2285T>C (p.Leu762Ser)
c.2282T>C (p.Leu761Ser)
c.2366T>C (p.Leu789Ser)
c.2297T>C (p.Leu766Ser)
c.1280T>C (p.Leu427Ser)
12g.55693229A>TCA385181647ITGA7c.*2248T>A (n.*2248T>A)
c.1295T>A
n.2039T>A
c.2150T>A (p.Leu717Ter)
c.2636T>A (p.Leu879Ter)
c.*2335T>A (n.*2335T>A)
n.730T>A
c.*1108T>A (n.*1108T>A)
c.1437T>A
c.2624T>A (p.Leu875Ter)
c.2606T>A (p.Leu869Ter)
c.2345T>A (p.Leu782Ter)
c.689T>A
c.2756T>A (p.Leu919Ter)
c.2738T>A (p.Leu913Ter)
c.2417T>A (p.Leu806Ter)
c.2285T>A (p.Leu762Ter)
c.2282T>A (p.Leu761Ter)
c.2366T>A (p.Leu789Ter)
c.2297T>A (p.Leu766Ter)
c.1280T>A (p.Leu427Ter)
12g.55693230A>CCA385181648ITGA7c.*2247T>G (n.*2247T>G)
c.1294T>G
n.2038T>G
c.2149T>G (p.Leu717Val)
c.2635T>G (p.Leu879Val)
c.*2334T>G (n.*2334T>G)
n.729T>G
c.*1107T>G (n.*1107T>G)
c.1436T>G
c.2623T>G (p.Leu875Val)
c.2605T>G (p.Leu869Val)
c.2344T>G (p.Leu782Val)
c.688T>G
c.2755T>G (p.Leu919Val)
c.2737T>G (p.Leu913Val)
c.2416T>G (p.Leu806Val)
c.2284T>G (p.Leu762Val)
c.2281T>G (p.Leu761Val)
c.2365T>G (p.Leu789Val)
c.2296T>G (p.Leu766Val)
c.1279T>G (p.Leu427Val)
12g.55693230A>GCA480145421ITGA7c.*2247T>C (n.*2247T>C)
c.1294T>C
n.2038T>C
c.2149T>C (p.Leu717=)
c.2635T>C (p.Leu879=)
c.*2334T>C (n.*2334T>C)
n.729T>C
c.*1107T>C (n.*1107T>C)
c.1436T>C
c.2623T>C (p.Leu875=)
c.2605T>C (p.Leu869=)
c.2344T>C (p.Leu782=)
c.688T>C
c.2755T>C (p.Leu919=)
c.2737T>C (p.Leu913=)
c.2416T>C (p.Leu806=)
c.2284T>C (p.Leu762=)
c.2281T>C (p.Leu761=)
c.2365T>C (p.Leu789=)
c.2296T>C (p.Leu766=)
c.1279T>C (p.Leu427=)
 dbSNP
12g.55693230A>TCA385181649ITGA7c.*2247T>A (n.*2247T>A)
c.1294T>A
n.2038T>A
c.2149T>A (p.Leu717Met)
c.2635T>A (p.Leu879Met)
c.*2334T>A (n.*2334T>A)
n.729T>A
c.*1107T>A (n.*1107T>A)
c.1436T>A
c.2623T>A (p.Leu875Met)
c.2605T>A (p.Leu869Met)
c.2344T>A (p.Leu782Met)
c.688T>A
c.2755T>A (p.Leu919Met)
c.2737T>A (p.Leu913Met)
c.2416T>A (p.Leu806Met)
c.2284T>A (p.Leu762Met)
c.2281T>A (p.Leu761Met)
c.2365T>A (p.Leu789Met)
c.2296T>A (p.Leu766Met)
c.1279T>A (p.Leu427Met)
12g.55693231C>ACA385181650ITGA7c.*2246G>T (n.*2246G>T)
c.1293G>T
n.2037G>T
c.2148G>T (p.Trp716Cys)
c.2634G>T (p.Trp878Cys)
c.*2333G>T (n.*2333G>T)
n.728G>T
c.*1106G>T (n.*1106G>T)
c.1435G>T
c.2622G>T (p.Trp874Cys)
c.2604G>T (p.Trp868Cys)
c.2343G>T (p.Trp781Cys)
c.687G>T
c.2754G>T (p.Trp918Cys)
c.2736G>T (p.Trp912Cys)
c.2415G>T (p.Trp805Cys)
c.2283G>T (p.Trp761Cys)
c.2280G>T (p.Trp760Cys)
c.2364G>T (p.Trp788Cys)
c.2295G>T (p.Trp765Cys)
c.1278G>T (p.Trp426Cys)
12g.55693231C>GCA385181651ITGA7c.*2246G>C (n.*2246G>C)
c.1293G>C
n.2037G>C
c.2148G>C (p.Trp716Cys)
c.2634G>C (p.Trp878Cys)
c.*2333G>C (n.*2333G>C)
n.728G>C
c.*1106G>C (n.*1106G>C)
c.1435G>C
c.2622G>C (p.Trp874Cys)
c.2604G>C (p.Trp868Cys)
c.2343G>C (p.Trp781Cys)
c.687G>C
c.2754G>C (p.Trp918Cys)
c.2736G>C (p.Trp912Cys)
c.2415G>C (p.Trp805Cys)
c.2283G>C (p.Trp761Cys)
c.2280G>C (p.Trp760Cys)
c.2364G>C (p.Trp788Cys)
c.2295G>C (p.Trp765Cys)
c.1278G>C (p.Trp426Cys)
12g.55693231C>TCA385181652ITGA7c.*2246G>A (n.*2246G>A)
c.1293G>A
n.2037G>A
c.2148G>A (p.Trp716Ter)
c.2634G>A (p.Trp878Ter)
c.*2333G>A (n.*2333G>A)
n.728G>A
c.*1106G>A (n.*1106G>A)
c.1435G>A
c.2622G>A (p.Trp874Ter)
c.2604G>A (p.Trp868Ter)
c.2343G>A (p.Trp781Ter)
c.687G>A
c.2754G>A (p.Trp918Ter)
c.2736G>A (p.Trp912Ter)
c.2415G>A (p.Trp805Ter)
c.2283G>A (p.Trp761Ter)
c.2280G>A (p.Trp760Ter)
c.2364G>A (p.Trp788Ter)
c.2295G>A (p.Trp765Ter)
c.1278G>A (p.Trp426Ter)
12g.55693232C>ACA385181654ITGA7c.*2245G>T (n.*2245G>T)
c.1292G>T
n.2036G>T
c.2147G>T (p.Trp716Leu)
c.2633G>T (p.Trp878Leu)
c.*2332G>T (n.*2332G>T)
n.727G>T
c.*1105G>T (n.*1105G>T)
c.1434G>T
c.2621G>T (p.Trp874Leu)
c.2603G>T (p.Trp868Leu)
c.2342G>T (p.Trp781Leu)
c.686G>T
c.2753G>T (p.Trp918Leu)
c.2735G>T (p.Trp912Leu)
c.2414G>T (p.Trp805Leu)
c.2282G>T (p.Trp761Leu)
c.2279G>T (p.Trp760Leu)
c.2363G>T (p.Trp788Leu)
c.2294G>T (p.Trp765Leu)
c.1277G>T (p.Trp426Leu)
12g.55693232C>GCA385181655ITGA7c.*2245G>C (n.*2245G>C)
c.1292G>C
n.2036G>C
c.2147G>C (p.Trp716Ser)
c.2633G>C (p.Trp878Ser)
c.*2332G>C (n.*2332G>C)
n.727G>C
c.*1105G>C (n.*1105G>C)
c.1434G>C
c.2621G>C (p.Trp874Ser)
c.2603G>C (p.Trp868Ser)
c.2342G>C (p.Trp781Ser)
c.686G>C
c.2753G>C (p.Trp918Ser)
c.2735G>C (p.Trp912Ser)
c.2414G>C (p.Trp805Ser)
c.2282G>C (p.Trp761Ser)
c.2279G>C (p.Trp760Ser)
c.2363G>C (p.Trp788Ser)
c.2294G>C (p.Trp765Ser)
c.1277G>C (p.Trp426Ser)
 gnomAD v4
12g.55693232C>TCA385181653ITGA7c.*2245G>A (n.*2245G>A)
c.1292G>A
n.2036G>A
c.2147G>A (p.Trp716Ter)
c.2633G>A (p.Trp878Ter)
c.*2332G>A (n.*2332G>A)
n.727G>A
c.*1105G>A (n.*1105G>A)
c.1434G>A
c.2621G>A (p.Trp874Ter)
c.2603G>A (p.Trp868Ter)
c.2342G>A (p.Trp781Ter)
c.686G>A
c.2753G>A (p.Trp918Ter)
c.2735G>A (p.Trp912Ter)
c.2414G>A (p.Trp805Ter)
c.2282G>A (p.Trp761Ter)
c.2279G>A (p.Trp760Ter)
c.2363G>A (p.Trp788Ter)
c.2294G>A (p.Trp765Ter)
c.1277G>A (p.Trp426Ter)
12g.55693233A>CCA385181658ITGA7c.*2244T>G (n.*2244T>G)
c.1291T>G
n.2035T>G
c.2146T>G (p.Trp716Gly)
c.2632T>G (p.Trp878Gly)
c.*2331T>G (n.*2331T>G)
n.726T>G
c.*1104T>G (n.*1104T>G)
c.1433T>G
c.2620T>G (p.Trp874Gly)
c.2602T>G (p.Trp868Gly)
c.2341T>G (p.Trp781Gly)
c.685T>G
c.2752T>G (p.Trp918Gly)
c.2734T>G (p.Trp912Gly)
c.2413T>G (p.Trp805Gly)
c.2281T>G (p.Trp761Gly)
c.2278T>G (p.Trp760Gly)
c.2362T>G (p.Trp788Gly)
c.2293T>G (p.Trp765Gly)
c.1276T>G (p.Trp426Gly)
12g.55693233A>GCA385181656ITGA7c.*2244T>C (n.*2244T>C)
c.1291T>C
n.2035T>C
c.2146T>C (p.Trp716Arg)
c.2632T>C (p.Trp878Arg)
c.*2331T>C (n.*2331T>C)
n.726T>C
c.*1104T>C (n.*1104T>C)
c.1433T>C
c.2620T>C (p.Trp874Arg)
c.2602T>C (p.Trp868Arg)
c.2341T>C (p.Trp781Arg)
c.685T>C
c.2752T>C (p.Trp918Arg)
c.2734T>C (p.Trp912Arg)
c.2413T>C (p.Trp805Arg)
c.2281T>C (p.Trp761Arg)
c.2278T>C (p.Trp760Arg)
c.2362T>C (p.Trp788Arg)
c.2293T>C (p.Trp765Arg)
c.1276T>C (p.Trp426Arg)
12g.55693233A>TCA385181657ITGA7c.*2244T>A (n.*2244T>A)
c.1291T>A
n.2035T>A
c.2146T>A (p.Trp716Arg)
c.2632T>A (p.Trp878Arg)
c.*2331T>A (n.*2331T>A)
n.726T>A
c.*1104T>A (n.*1104T>A)
c.1433T>A
c.2620T>A (p.Trp874Arg)
c.2602T>A (p.Trp868Arg)
c.2341T>A (p.Trp781Arg)
c.685T>A
c.2752T>A (p.Trp918Arg)
c.2734T>A (p.Trp912Arg)
c.2413T>A (p.Trp805Arg)
c.2281T>A (p.Trp761Arg)
c.2278T>A (p.Trp760Arg)
c.2362T>A (p.Trp788Arg)
c.2293T>A (p.Trp765Arg)
c.1276T>A (p.Trp426Arg)
12g.55693234C>ACA385181659ITGA7c.*2243G>T (n.*2243G>T)
c.1290G>T
n.2034G>T
c.2145G>T (p.Lys715Asn)
c.2631G>T (p.Lys877Asn)
c.*2330G>T (n.*2330G>T)
n.725G>T
c.*1103G>T (n.*1103G>T)
c.1432G>T
c.2619G>T (p.Lys873Asn)
c.2601G>T (p.Lys867Asn)
c.2340G>T (p.Lys780Asn)
c.684G>T
c.2751G>T (p.Lys917Asn)
c.2733G>T (p.Lys911Asn)
c.2412G>T (p.Lys804Asn)
c.2280G>T (p.Lys760Asn)
c.2277G>T (p.Lys759Asn)
c.2361G>T (p.Lys787Asn)
c.2292G>T (p.Lys764Asn)
c.1275G>T (p.Lys425Asn)
12g.55693234C>GCA385181660ITGA7c.*2243G>C (n.*2243G>C)
c.1290G>C
n.2034G>C
c.2145G>C (p.Lys715Asn)
c.2631G>C (p.Lys877Asn)
c.*2330G>C (n.*2330G>C)
n.725G>C
c.*1103G>C (n.*1103G>C)
c.1432G>C
c.2619G>C (p.Lys873Asn)
c.2601G>C (p.Lys867Asn)
c.2340G>C (p.Lys780Asn)
c.684G>C
c.2751G>C (p.Lys917Asn)
c.2733G>C (p.Lys911Asn)
c.2412G>C (p.Lys804Asn)
c.2280G>C (p.Lys760Asn)
c.2277G>C (p.Lys759Asn)
c.2361G>C (p.Lys787Asn)
c.2292G>C (p.Lys764Asn)
c.1275G>C (p.Lys425Asn)
12g.55693234C>TCA480145433ITGA7c.*2243G>A (n.*2243G>A)
c.1290G>A
n.2034G>A
c.2145G>A (p.Lys715=)
c.2631G>A (p.Lys877=)
c.*2330G>A (n.*2330G>A)
n.725G>A
c.*1103G>A (n.*1103G>A)
c.1432G>A
c.2619G>A (p.Lys873=)
c.2601G>A (p.Lys867=)
c.2340G>A (p.Lys780=)
c.684G>A
c.2751G>A (p.Lys917=)
c.2733G>A (p.Lys911=)
c.2412G>A (p.Lys804=)
c.2280G>A (p.Lys760=)
c.2277G>A (p.Lys759=)
c.2361G>A (p.Lys787=)
c.2292G>A (p.Lys764=)
c.1275G>A (p.Lys425=)
12g.55693235T>ACA385181661ITGA7c.*2242A>T (n.*2242A>T)
c.1289A>T
n.2033A>T
c.2144A>T (p.Lys715Met)
c.2630A>T (p.Lys877Met)
c.*2329A>T (n.*2329A>T)
n.724A>T
c.*1102A>T (n.*1102A>T)
c.1431A>T
c.2618A>T (p.Lys873Met)
c.2600A>T (p.Lys867Met)
c.2339A>T (p.Lys780Met)
c.683A>T
c.2750A>T (p.Lys917Met)
c.2732A>T (p.Lys911Met)
c.2411A>T (p.Lys804Met)
c.2279A>T (p.Lys760Met)
c.2276A>T (p.Lys759Met)
c.2360A>T (p.Lys787Met)
c.2291A>T (p.Lys764Met)
c.1274A>T (p.Lys425Met)
12g.55693235T>CCA385181662ITGA7c.*2242A>G (n.*2242A>G)
c.1289A>G
n.2033A>G
c.2144A>G (p.Lys715Arg)
c.2630A>G (p.Lys877Arg)
c.*2329A>G (n.*2329A>G)
n.724A>G
c.*1102A>G (n.*1102A>G)
c.1431A>G
c.2618A>G (p.Lys873Arg)
c.2600A>G (p.Lys867Arg)
c.2339A>G (p.Lys780Arg)
c.683A>G
c.2750A>G (p.Lys917Arg)
c.2732A>G (p.Lys911Arg)
c.2411A>G (p.Lys804Arg)
c.2279A>G (p.Lys760Arg)
c.2276A>G (p.Lys759Arg)
c.2360A>G (p.Lys787Arg)
c.2291A>G (p.Lys764Arg)
c.1274A>G (p.Lys425Arg)
12g.55693235T>GCA385181663ITGA7c.*2242A>C (n.*2242A>C)
c.1289A>C
n.2033A>C
c.2144A>C (p.Lys715Thr)
c.2630A>C (p.Lys877Thr)
c.*2329A>C (n.*2329A>C)
n.724A>C
c.*1102A>C (n.*1102A>C)
c.1431A>C
c.2618A>C (p.Lys873Thr)
c.2600A>C (p.Lys867Thr)
c.2339A>C (p.Lys780Thr)
c.683A>C
c.2750A>C (p.Lys917Thr)
c.2732A>C (p.Lys911Thr)
c.2411A>C (p.Lys804Thr)
c.2279A>C (p.Lys760Thr)
c.2276A>C (p.Lys759Thr)
c.2360A>C (p.Lys787Thr)
c.2291A>C (p.Lys764Thr)
c.1274A>C (p.Lys425Thr)
12g.55693236T>ACA385181664ITGA7c.*2241A>T (n.*2241A>T)
c.1288A>T
n.2032A>T
c.2143A>T (p.Lys715Ter)
c.2629A>T (p.Lys877Ter)
c.*2328A>T (n.*2328A>T)
n.723A>T
c.*1101A>T (n.*1101A>T)
c.1430A>T
c.2617A>T (p.Lys873Ter)
c.2599A>T (p.Lys867Ter)
c.2338A>T (p.Lys780Ter)
c.682A>T
c.2749A>T (p.Lys917Ter)
c.2731A>T (p.Lys911Ter)
c.2410A>T (p.Lys804Ter)
c.2278A>T (p.Lys760Ter)
c.2275A>T (p.Lys759Ter)
c.2359A>T (p.Lys787Ter)
c.2290A>T (p.Lys764Ter)
c.1273A>T (p.Lys425Ter)
12g.55693236T>CCA385181666ITGA7c.*2241A>G (n.*2241A>G)
c.1288A>G
n.2032A>G
c.2143A>G (p.Lys715Glu)
c.2629A>G (p.Lys877Glu)
c.*2328A>G (n.*2328A>G)
n.723A>G
c.*1101A>G (n.*1101A>G)
c.1430A>G
c.2617A>G (p.Lys873Glu)
c.2599A>G (p.Lys867Glu)
c.2338A>G (p.Lys780Glu)
c.682A>G
c.2749A>G (p.Lys917Glu)
c.2731A>G (p.Lys911Glu)
c.2410A>G (p.Lys804Glu)
c.2278A>G (p.Lys760Glu)
c.2275A>G (p.Lys759Glu)
c.2359A>G (p.Lys787Glu)
c.2290A>G (p.Lys764Glu)
c.1273A>G (p.Lys425Glu)
12g.55693236T>GCA385181665ITGA7c.*2241A>C (n.*2241A>C)
c.1288A>C
n.2032A>C
c.2143A>C (p.Lys715Gln)
c.2629A>C (p.Lys877Gln)
c.*2328A>C (n.*2328A>C)
n.723A>C
c.*1101A>C (n.*1101A>C)
c.1430A>C
c.2617A>C (p.Lys873Gln)
c.2599A>C (p.Lys867Gln)
c.2338A>C (p.Lys780Gln)
c.682A>C
c.2749A>C (p.Lys917Gln)
c.2731A>C (p.Lys911Gln)
c.2410A>C (p.Lys804Gln)
c.2278A>C (p.Lys760Gln)
c.2275A>C (p.Lys759Gln)
c.2359A>C (p.Lys787Gln)
c.2290A>C (p.Lys764Gln)
c.1273A>C (p.Lys425Gln)
12g.55693237C>ACA237564144ITGA7c.*2240G>T (n.*2240G>T)
c.1287G>T
n.2031G>T
c.2142G>T (p.Gly714=)
c.2628G>T (p.Gly876=)
c.*2327G>T (n.*2327G>T)
n.722G>T
c.*1100G>T (n.*1100G>T)
c.1429G>T
c.2616G>T (p.Gly872=)
c.2598G>T (p.Gly866=)
c.2337G>T (p.Gly779=)
c.681G>T
c.2748G>T (p.Gly916=)
c.2730G>T (p.Gly910=)
c.2409G>T (p.Gly803=)
c.2277G>T (p.Gly759=)
c.2274G>T (p.Gly758=)
c.2358G>T (p.Gly786=)
c.2289G>T (p.Gly763=)
c.1272G>T (p.Gly424=)
 dbSNP gnomAD v3 gnomAD v4
12g.55693237C=CA2038035909ITGA7c.*2240G= (n.*2240G=)
c.1287G=
n.2031G=
c.2142G= (p.Gly714=)
c.2628G= (p.Gly876=)
c.*2327G= (n.*2327G=)
n.722G=
c.*1100G= (n.*1100G=)
c.1429G=
c.2616G= (p.Gly872=)
c.2598G= (p.Gly866=)
c.2337G= (p.Gly779=)
c.681G=
c.2748G= (p.Gly916=)
c.2730G= (p.Gly910=)
c.2409G= (p.Gly803=)
c.2277G= (p.Gly759=)
c.2274G= (p.Gly758=)
c.2358G= (p.Gly786=)
c.2289G= (p.Gly763=)
c.1272G= (p.Gly424=)
12g.55693237C>GCA480145442ITGA7c.*2240G>C (n.*2240G>C)
c.1287G>C
n.2031G>C
c.2142G>C (p.Gly714=)
c.2628G>C (p.Gly876=)
c.*2327G>C (n.*2327G>C)
n.722G>C
c.*1100G>C (n.*1100G>C)
c.1429G>C
c.2616G>C (p.Gly872=)
c.2598G>C (p.Gly866=)
c.2337G>C (p.Gly779=)
c.681G>C
c.2748G>C (p.Gly916=)
c.2730G>C (p.Gly910=)
c.2409G>C (p.Gly803=)
c.2277G>C (p.Gly759=)
c.2274G>C (p.Gly758=)
c.2358G>C (p.Gly786=)
c.2289G>C (p.Gly763=)
c.1272G>C (p.Gly424=)
12g.55693237C>TCA480145443ITGA7c.*2240G>A (n.*2240G>A)
c.1287G>A
n.2031G>A
c.2142G>A (p.Gly714=)
c.2628G>A (p.Gly876=)
c.*2327G>A (n.*2327G>A)
n.722G>A
c.*1100G>A (n.*1100G>A)
c.1429G>A
c.2616G>A (p.Gly872=)
c.2598G>A (p.Gly866=)
c.2337G>A (p.Gly779=)
c.681G>A
c.2748G>A (p.Gly916=)
c.2730G>A (p.Gly910=)
c.2409G>A (p.Gly803=)
c.2277G>A (p.Gly759=)
c.2274G>A (p.Gly758=)
c.2358G>A (p.Gly786=)
c.2289G>A (p.Gly763=)
c.1272G>A (p.Gly424=)
12g.55693238C>ACA385181667ITGA7c.*2239G>T (n.*2239G>T)
c.1286G>T
n.2030G>T
c.2141G>T (p.Gly714Val)
c.2627G>T (p.Gly876Val)
c.*2326G>T (n.*2326G>T)
n.721G>T
c.*1099G>T (n.*1099G>T)
c.1428G>T
c.2615G>T (p.Gly872Val)
c.2597G>T (p.Gly866Val)
c.2336G>T (p.Gly779Val)
c.680G>T
c.2747G>T (p.Gly916Val)
c.2729G>T (p.Gly910Val)
c.2408G>T (p.Gly803Val)
c.2276G>T (p.Gly759Val)
c.2273G>T (p.Gly758Val)
c.2357G>T (p.Gly786Val)
c.2288G>T (p.Gly763Val)
c.1271G>T (p.Gly424Val)
12g.55693238C>GCA385181668ITGA7c.*2239G>C (n.*2239G>C)
c.1286G>C
n.2030G>C
c.2141G>C (p.Gly714Ala)
c.2627G>C (p.Gly876Ala)
c.*2326G>C (n.*2326G>C)
n.721G>C
c.*1099G>C (n.*1099G>C)
c.1428G>C
c.2615G>C (p.Gly872Ala)
c.2597G>C (p.Gly866Ala)
c.2336G>C (p.Gly779Ala)
c.680G>C
c.2747G>C (p.Gly916Ala)
c.2729G>C (p.Gly910Ala)
c.2408G>C (p.Gly803Ala)
c.2276G>C (p.Gly759Ala)
c.2273G>C (p.Gly758Ala)
c.2357G>C (p.Gly786Ala)
c.2288G>C (p.Gly763Ala)
c.1271G>C (p.Gly424Ala)
12g.55693238C>TCA385181669ITGA7c.*2239G>A (n.*2239G>A)
c.1286G>A
n.2030G>A
c.2141G>A (p.Gly714Glu)
c.2627G>A (p.Gly876Glu)
c.*2326G>A (n.*2326G>A)
n.721G>A
c.*1099G>A (n.*1099G>A)
c.1428G>A
c.2615G>A (p.Gly872Glu)
c.2597G>A (p.Gly866Glu)
c.2336G>A (p.Gly779Glu)
c.680G>A
c.2747G>A (p.Gly916Glu)
c.2729G>A (p.Gly910Glu)
c.2408G>A (p.Gly803Glu)
c.2276G>A (p.Gly759Glu)
c.2273G>A (p.Gly758Glu)
c.2357G>A (p.Gly786Glu)
c.2288G>A (p.Gly763Glu)
c.1271G>A (p.Gly424Glu)
12g.55693239C>ACA385181670ITGA7c.*2238G>T (n.*2238G>T)
c.1285G>T
n.2029G>T
c.2140G>T (p.Gly714Trp)
c.2626G>T (p.Gly876Trp)
c.*2325G>T (n.*2325G>T)
n.720G>T
c.*1098G>T (n.*1098G>T)
c.1427G>T
c.2614G>T (p.Gly872Trp)
c.2596G>T (p.Gly866Trp)
c.2335G>T (p.Gly779Trp)
c.679G>T
c.2746G>T (p.Gly916Trp)
c.2728G>T (p.Gly910Trp)
c.2407G>T (p.Gly803Trp)
c.2275G>T (p.Gly759Trp)
c.2272G>T (p.Gly758Trp)
c.2356G>T (p.Gly786Trp)
c.2287G>T (p.Gly763Trp)
c.1270G>T (p.Gly424Trp)
12g.55693239C=CA2038035914ITGA7c.*2238G= (n.*2238G=)
c.1285G=
n.2029G=
c.2140G= (p.Gly714=)
c.2626G= (p.Gly876=)
c.*2325G= (n.*2325G=)
n.720G=
c.*1098G= (n.*1098G=)
c.1427G=
c.2614G= (p.Gly872=)
c.2596G= (p.Gly866=)
c.2335G= (p.Gly779=)
c.679G=
c.2746G= (p.Gly916=)
c.2728G= (p.Gly910=)
c.2407G= (p.Gly803=)
c.2275G= (p.Gly759=)
c.2272G= (p.Gly758=)
c.2356G= (p.Gly786=)
c.2287G= (p.Gly763=)
c.1270G= (p.Gly424=)
12g.55693239C>GCA385181672ITGA7c.*2238G>C (n.*2238G>C)
c.1285G>C
n.2029G>C
c.2140G>C (p.Gly714Arg)
c.2626G>C (p.Gly876Arg)
c.*2325G>C (n.*2325G>C)
n.720G>C
c.*1098G>C (n.*1098G>C)
c.1427G>C
c.2614G>C (p.Gly872Arg)
c.2596G>C (p.Gly866Arg)
c.2335G>C (p.Gly779Arg)
c.679G>C
c.2746G>C (p.Gly916Arg)
c.2728G>C (p.Gly910Arg)
c.2407G>C (p.Gly803Arg)
c.2275G>C (p.Gly759Arg)
c.2272G>C (p.Gly758Arg)
c.2356G>C (p.Gly786Arg)
c.2287G>C (p.Gly763Arg)
c.1270G>C (p.Gly424Arg)
12g.55693239C>TCA385181671ITGA7c.*2238G>A (n.*2238G>A)
c.1285G>A
n.2029G>A
c.2140G>A (p.Gly714Arg)
c.2626G>A (p.Gly876Arg)
c.*2325G>A (n.*2325G>A)
n.720G>A
c.*1098G>A (n.*1098G>A)
c.1427G>A
c.2614G>A (p.Gly872Arg)
c.2596G>A (p.Gly866Arg)
c.2335G>A (p.Gly779Arg)
c.679G>A
c.2746G>A (p.Gly916Arg)
c.2728G>A (p.Gly910Arg)
c.2407G>A (p.Gly803Arg)
c.2275G>A (p.Gly759Arg)
c.2272G>A (p.Gly758Arg)
c.2356G>A (p.Gly786Arg)
c.2287G>A (p.Gly763Arg)
c.1270G>A (p.Gly424Arg)
 dbSNP
12g.55693240A>CCA385181673ITGA7c.*2237T>G (n.*2237T>G)
c.1284T>G
n.2028T>G
c.2139T>G (p.Asn713Lys)
c.2625T>G (p.Asn875Lys)
c.*2324T>G (n.*2324T>G)
n.719T>G
c.*1097T>G (n.*1097T>G)
c.1426T>G
c.2613T>G (p.Asn871Lys)
c.2595T>G (p.Asn865Lys)
c.2334T>G (p.Asn778Lys)
c.678T>G
c.2745T>G (p.Asn915Lys)
c.2727T>G (p.Asn909Lys)
c.2406T>G (p.Asn802Lys)
c.2274T>G (p.Asn758Lys)
c.2271T>G (p.Asn757Lys)
c.2355T>G (p.Asn785Lys)
c.2286T>G (p.Asn762Lys)
c.1269T>G (p.Asn423Lys)
12g.55693240A>GCA480145451ITGA7c.*2237T>C (n.*2237T>C)
c.1284T>C
n.2028T>C
c.2139T>C (p.Asn713=)
c.2625T>C (p.Asn875=)
c.*2324T>C (n.*2324T>C)
n.719T>C
c.*1097T>C (n.*1097T>C)
c.1426T>C
c.2613T>C (p.Asn871=)
c.2595T>C (p.Asn865=)
c.2334T>C (p.Asn778=)
c.678T>C
c.2745T>C (p.Asn915=)
c.2727T>C (p.Asn909=)
c.2406T>C (p.Asn802=)
c.2274T>C (p.Asn758=)
c.2271T>C (p.Asn757=)
c.2355T>C (p.Asn785=)
c.2286T>C (p.Asn762=)
c.1269T>C (p.Asn423=)
12g.55693240A>TCA385181674ITGA7c.*2237T>A (n.*2237T>A)
c.1284T>A
n.2028T>A
c.2139T>A (p.Asn713Lys)
c.2625T>A (p.Asn875Lys)
c.*2324T>A (n.*2324T>A)
n.719T>A
c.*1097T>A (n.*1097T>A)
c.1426T>A
c.2613T>A (p.Asn871Lys)
c.2595T>A (p.Asn865Lys)
c.2334T>A (p.Asn778Lys)
c.678T>A
c.2745T>A (p.Asn915Lys)
c.2727T>A (p.Asn909Lys)
c.2406T>A (p.Asn802Lys)
c.2274T>A (p.Asn758Lys)
c.2271T>A (p.Asn757Lys)
c.2355T>A (p.Asn785Lys)
c.2286T>A (p.Asn762Lys)
c.1269T>A (p.Asn423Lys)
12g.55693241T>ACA385181675ITGA7c.*2236A>T (n.*2236A>T)
c.1283A>T
n.2027A>T
c.2138A>T (p.Asn713Ile)
c.2624A>T (p.Asn875Ile)
c.*2323A>T (n.*2323A>T)
n.718A>T
c.*1096A>T (n.*1096A>T)
c.1425A>T
c.2612A>T (p.Asn871Ile)
c.2594A>T (p.Asn865Ile)
c.2333A>T (p.Asn778Ile)
c.677A>T
c.2744A>T (p.Asn915Ile)
c.2726A>T (p.Asn909Ile)
c.2405A>T (p.Asn802Ile)
c.2273A>T (p.Asn758Ile)
c.2270A>T (p.Asn757Ile)
c.2354A>T (p.Asn785Ile)
c.2285A>T (p.Asn762Ile)
c.1268A>T (p.Asn423Ile)
12g.55693241T>CCA6615524ITGA7c.*2236A>G (n.*2236A>G)
c.1283A>G
n.2027A>G
c.2138A>G (p.Asn713Ser)
c.2624A>G (p.Asn875Ser)
c.*2323A>G (n.*2323A>G)
n.718A>G
c.*1096A>G (n.*1096A>G)
c.1425A>G
c.2612A>G (p.Asn871Ser)
c.2594A>G (p.Asn865Ser)
c.2333A>G (p.Asn778Ser)
c.677A>G
c.2744A>G (p.Asn915Ser)
c.2726A>G (p.Asn909Ser)
c.2405A>G (p.Asn802Ser)
c.2273A>G (p.Asn758Ser)
c.2270A>G (p.Asn757Ser)
c.2354A>G (p.Asn785Ser)
c.2285A>G (p.Asn762Ser)
c.1268A>G (p.Asn423Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693241T>GCA385181676ITGA7c.*2236A>C (n.*2236A>C)
c.1283A>C
n.2027A>C
c.2138A>C (p.Asn713Thr)
c.2624A>C (p.Asn875Thr)
c.*2323A>C (n.*2323A>C)
n.718A>C
c.*1096A>C (n.*1096A>C)
c.1425A>C
c.2612A>C (p.Asn871Thr)
c.2594A>C (p.Asn865Thr)
c.2333A>C (p.Asn778Thr)
c.677A>C
c.2744A>C (p.Asn915Thr)
c.2726A>C (p.Asn909Thr)
c.2405A>C (p.Asn802Thr)
c.2273A>C (p.Asn758Thr)
c.2270A>C (p.Asn757Thr)
c.2354A>C (p.Asn785Thr)
c.2285A>C (p.Asn762Thr)
c.1268A>C (p.Asn423Thr)
12g.55693241T=CA2038035920ITGA7c.*2236A= (n.*2236A=)
c.1283A=
n.2027A=
c.2138A= (p.Asn713=)
c.2624A= (p.Asn875=)
c.*2323A= (n.*2323A=)
n.718A=
c.*1096A= (n.*1096A=)
c.1425A=
c.2612A= (p.Asn871=)
c.2594A= (p.Asn865=)
c.2333A= (p.Asn778=)
c.677A=
c.2744A= (p.Asn915=)
c.2726A= (p.Asn909=)
c.2405A= (p.Asn802=)
c.2273A= (p.Asn758=)
c.2270A= (p.Asn757=)
c.2354A= (p.Asn785=)
c.2285A= (p.Asn762=)
c.1268A= (p.Asn423=)
12g.55693242T>ACA385181677ITGA7c.*2235A>T (n.*2235A>T)
c.1282A>T
n.2026A>T
c.2137A>T (p.Asn713Tyr)
c.2623A>T (p.Asn875Tyr)
c.*2322A>T (n.*2322A>T)
n.717A>T
c.*1095A>T (n.*1095A>T)
c.1424A>T
c.2611A>T (p.Asn871Tyr)
c.2593A>T (p.Asn865Tyr)
c.2332A>T (p.Asn778Tyr)
c.676A>T
c.2743A>T (p.Asn915Tyr)
c.2725A>T (p.Asn909Tyr)
c.2404A>T (p.Asn802Tyr)
c.2272A>T (p.Asn758Tyr)
c.2269A>T (p.Asn757Tyr)
c.2353A>T (p.Asn785Tyr)
c.2284A>T (p.Asn762Tyr)
c.1267A>T (p.Asn423Tyr)
12g.55693242T>CCA385181678ITGA7c.*2235A>G (n.*2235A>G)
c.1282A>G
n.2026A>G
c.2137A>G (p.Asn713Asp)
c.2623A>G (p.Asn875Asp)
c.*2322A>G (n.*2322A>G)
n.717A>G
c.*1095A>G (n.*1095A>G)
c.1424A>G
c.2611A>G (p.Asn871Asp)
c.2593A>G (p.Asn865Asp)
c.2332A>G (p.Asn778Asp)
c.676A>G
c.2743A>G (p.Asn915Asp)
c.2725A>G (p.Asn909Asp)
c.2404A>G (p.Asn802Asp)
c.2272A>G (p.Asn758Asp)
c.2269A>G (p.Asn757Asp)
c.2353A>G (p.Asn785Asp)
c.2284A>G (p.Asn762Asp)
c.1267A>G (p.Asn423Asp)
12g.55693242T>GCA385181679ITGA7c.*2235A>C (n.*2235A>C)
c.1282A>C
n.2026A>C
c.2137A>C (p.Asn713His)
c.2623A>C (p.Asn875His)
c.*2322A>C (n.*2322A>C)
n.717A>C
c.*1095A>C (n.*1095A>C)
c.1424A>C
c.2611A>C (p.Asn871His)
c.2593A>C (p.Asn865His)
c.2332A>C (p.Asn778His)
c.676A>C
c.2743A>C (p.Asn915His)
c.2725A>C (p.Asn909His)
c.2404A>C (p.Asn802His)
c.2272A>C (p.Asn758His)
c.2269A>C (p.Asn757His)
c.2353A>C (p.Asn785His)
c.2284A>C (p.Asn762His)
c.1267A>C (p.Asn423His)
12g.55693243G>ACA480145459ITGA7c.*2234C>T (n.*2234C>T)
c.1281C>T
n.2025C>T
c.2136C>T (p.Ala712=)
c.2622C>T (p.Ala874=)
c.*2321C>T (n.*2321C>T)
n.716C>T
c.*1094C>T (n.*1094C>T)
c.1423C>T
c.2610C>T (p.Ala870=)
c.2592C>T (p.Ala864=)
c.2331C>T (p.Ala777=)
c.675C>T
c.2742C>T (p.Ala914=)
c.2724C>T (p.Ala908=)
c.2403C>T (p.Ala801=)
c.2271C>T (p.Ala757=)
c.2268C>T (p.Ala756=)
c.2352C>T (p.Ala784=)
c.2283C>T (p.Ala761=)
c.1266C>T (p.Ala422=)
12g.55693243G>CCA480145460ITGA7c.*2234C>G (n.*2234C>G)
c.1281C>G
n.2025C>G
c.2136C>G (p.Ala712=)
c.2622C>G (p.Ala874=)
c.*2321C>G (n.*2321C>G)
n.716C>G
c.*1094C>G (n.*1094C>G)
c.1423C>G
c.2610C>G (p.Ala870=)
c.2592C>G (p.Ala864=)
c.2331C>G (p.Ala777=)
c.675C>G
c.2742C>G (p.Ala914=)
c.2724C>G (p.Ala908=)
c.2403C>G (p.Ala801=)
c.2271C>G (p.Ala757=)
c.2268C>G (p.Ala756=)
c.2352C>G (p.Ala784=)
c.2283C>G (p.Ala761=)
c.1266C>G (p.Ala422=)
 dbSNP gnomAD v3 gnomAD v4
12g.55693243G=CA2038035927ITGA7c.*2234C= (n.*2234C=)
c.1281C=
n.2025C=
c.2136C= (p.Ala712=)
c.2622C= (p.Ala874=)
c.*2321C= (n.*2321C=)
n.716C=
c.*1094C= (n.*1094C=)
c.1423C=
c.2610C= (p.Ala870=)
c.2592C= (p.Ala864=)
c.2331C= (p.Ala777=)
c.675C=
c.2742C= (p.Ala914=)
c.2724C= (p.Ala908=)
c.2403C= (p.Ala801=)
c.2271C= (p.Ala757=)
c.2268C= (p.Ala756=)
c.2352C= (p.Ala784=)
c.2283C= (p.Ala761=)
c.1266C= (p.Ala422=)
12g.55693243G>TCA480145462ITGA7c.*2234C>A (n.*2234C>A)
c.1281C>A
n.2025C>A
c.2136C>A (p.Ala712=)
c.2622C>A (p.Ala874=)
c.*2321C>A (n.*2321C>A)
n.716C>A
c.*1094C>A (n.*1094C>A)
c.1423C>A
c.2610C>A (p.Ala870=)
c.2592C>A (p.Ala864=)
c.2331C>A (p.Ala777=)
c.675C>A
c.2742C>A (p.Ala914=)
c.2724C>A (p.Ala908=)
c.2403C>A (p.Ala801=)
c.2271C>A (p.Ala757=)
c.2268C>A (p.Ala756=)
c.2352C>A (p.Ala784=)
c.2283C>A (p.Ala761=)
c.1266C>A (p.Ala422=)
12g.55693244G>ACA385181680ITGA7c.*2233C>T (n.*2233C>T)
c.1280C>T
n.2024C>T
c.2135C>T (p.Ala712Val)
c.2621C>T (p.Ala874Val)
c.*2320C>T (n.*2320C>T)
n.715C>T
c.*1093C>T (n.*1093C>T)
c.1422C>T
c.2609C>T (p.Ala870Val)
c.2591C>T (p.Ala864Val)
c.2330C>T (p.Ala777Val)
c.674C>T
c.2741C>T (p.Ala914Val)
c.2723C>T (p.Ala908Val)
c.2402C>T (p.Ala801Val)
c.2270C>T (p.Ala757Val)
c.2267C>T (p.Ala756Val)
c.2351C>T (p.Ala784Val)
c.2282C>T (p.Ala761Val)
c.1265C>T (p.Ala422Val)
 dbSNP gnomAD v2 gnomAD v4
12g.55693244G>CCA385181681ITGA7c.*2233C>G (n.*2233C>G)
c.1280C>G
n.2024C>G
c.2135C>G (p.Ala712Gly)
c.2621C>G (p.Ala874Gly)
c.*2320C>G (n.*2320C>G)
n.715C>G
c.*1093C>G (n.*1093C>G)
c.1422C>G
c.2609C>G (p.Ala870Gly)
c.2591C>G (p.Ala864Gly)
c.2330C>G (p.Ala777Gly)
c.674C>G
c.2741C>G (p.Ala914Gly)
c.2723C>G (p.Ala908Gly)
c.2402C>G (p.Ala801Gly)
c.2270C>G (p.Ala757Gly)
c.2267C>G (p.Ala756Gly)
c.2351C>G (p.Ala784Gly)
c.2282C>G (p.Ala761Gly)
c.1265C>G (p.Ala422Gly)
12g.55693244G=CA2038035932ITGA7c.*2233C= (n.*2233C=)
c.1280C=
n.2024C=
c.2135C= (p.Ala712=)
c.2621C= (p.Ala874=)
c.*2320C= (n.*2320C=)
n.715C=
c.*1093C= (n.*1093C=)
c.1422C=
c.2609C= (p.Ala870=)
c.2591C= (p.Ala864=)
c.2330C= (p.Ala777=)
c.674C=
c.2741C= (p.Ala914=)
c.2723C= (p.Ala908=)
c.2402C= (p.Ala801=)
c.2270C= (p.Ala757=)
c.2267C= (p.Ala756=)
c.2351C= (p.Ala784=)
c.2282C= (p.Ala761=)
c.1265C= (p.Ala422=)
12g.55693244G>TCA385181682ITGA7c.*2233C>A (n.*2233C>A)
c.1280C>A
n.2024C>A
c.2135C>A (p.Ala712Asp)
c.2621C>A (p.Ala874Asp)
c.*2320C>A (n.*2320C>A)
n.715C>A
c.*1093C>A (n.*1093C>A)
c.1422C>A
c.2609C>A (p.Ala870Asp)
c.2591C>A (p.Ala864Asp)
c.2330C>A (p.Ala777Asp)
c.674C>A
c.2741C>A (p.Ala914Asp)
c.2723C>A (p.Ala908Asp)
c.2402C>A (p.Ala801Asp)
c.2270C>A (p.Ala757Asp)
c.2267C>A (p.Ala756Asp)
c.2351C>A (p.Ala784Asp)
c.2282C>A (p.Ala761Asp)
c.1265C>A (p.Ala422Asp)
12g.55693245C>ACA385181685ITGA7c.*2232G>T (n.*2232G>T)
c.1279G>T
n.2023G>T
c.2134G>T (p.Ala712Ser)
c.2620G>T (p.Ala874Ser)
c.*2319G>T (n.*2319G>T)
n.714G>T
c.*1092G>T (n.*1092G>T)
c.1421G>T
c.2608G>T (p.Ala870Ser)
c.2590G>T (p.Ala864Ser)
c.2329G>T (p.Ala777Ser)
c.673G>T
c.2740G>T (p.Ala914Ser)
c.2722G>T (p.Ala908Ser)
c.2401G>T (p.Ala801Ser)
c.2269G>T (p.Ala757Ser)
c.2266G>T (p.Ala756Ser)
c.2350G>T (p.Ala784Ser)
c.2281G>T (p.Ala761Ser)
c.1264G>T (p.Ala422Ser)
12g.55693245C>GCA385181684ITGA7c.*2232G>C (n.*2232G>C)
c.1279G>C
n.2023G>C
c.2134G>C (p.Ala712Pro)
c.2620G>C (p.Ala874Pro)
c.*2319G>C (n.*2319G>C)
n.714G>C
c.*1092G>C (n.*1092G>C)
c.1421G>C
c.2608G>C (p.Ala870Pro)
c.2590G>C (p.Ala864Pro)
c.2329G>C (p.Ala777Pro)
c.673G>C
c.2740G>C (p.Ala914Pro)
c.2722G>C (p.Ala908Pro)
c.2401G>C (p.Ala801Pro)
c.2269G>C (p.Ala757Pro)
c.2266G>C (p.Ala756Pro)
c.2350G>C (p.Ala784Pro)
c.2281G>C (p.Ala761Pro)
c.1264G>C (p.Ala422Pro)
12g.55693245C>TCA385181683ITGA7c.*2232G>A (n.*2232G>A)
c.1279G>A
n.2023G>A
c.2134G>A (p.Ala712Thr)
c.2620G>A (p.Ala874Thr)
c.*2319G>A (n.*2319G>A)
n.714G>A
c.*1092G>A (n.*1092G>A)
c.1421G>A
c.2608G>A (p.Ala870Thr)
c.2590G>A (p.Ala864Thr)
c.2329G>A (p.Ala777Thr)
c.673G>A
c.2740G>A (p.Ala914Thr)
c.2722G>A (p.Ala908Thr)
c.2401G>A (p.Ala801Thr)
c.2269G>A (p.Ala757Thr)
c.2266G>A (p.Ala756Thr)
c.2350G>A (p.Ala784Thr)
c.2281G>A (p.Ala761Thr)
c.1264G>A (p.Ala422Thr)
12g.55693246A>CCA385181686ITGA7c.*2231T>G (n.*2231T>G)
c.1278T>G
n.2022T>G
c.2133T>G (p.Ile711Met)
c.2619T>G (p.Ile873Met)
c.*2318T>G (n.*2318T>G)
n.713T>G
c.*1091T>G (n.*1091T>G)
c.1420T>G
c.2607T>G (p.Ile869Met)
c.2589T>G (p.Ile863Met)
c.2328T>G (p.Ile776Met)
c.672T>G
c.2739T>G (p.Ile913Met)
c.2721T>G (p.Ile907Met)
c.2400T>G (p.Ile800Met)
c.2268T>G (p.Ile756Met)
c.2265T>G (p.Ile755Met)
c.2349T>G (p.Ile783Met)
c.2280T>G (p.Ile760Met)
c.1263T>G (p.Ile421Met)
 gnomAD v4
12g.55693246A>GCA480145468ITGA7c.*2231T>C (n.*2231T>C)
c.1278T>C
n.2022T>C
c.2133T>C (p.Ile711=)
c.2619T>C (p.Ile873=)
c.*2318T>C (n.*2318T>C)
n.713T>C
c.*1091T>C (n.*1091T>C)
c.1420T>C
c.2607T>C (p.Ile869=)
c.2589T>C (p.Ile863=)
c.2328T>C (p.Ile776=)
c.672T>C
c.2739T>C (p.Ile913=)
c.2721T>C (p.Ile907=)
c.2400T>C (p.Ile800=)
c.2268T>C (p.Ile756=)
c.2265T>C (p.Ile755=)
c.2349T>C (p.Ile783=)
c.2280T>C (p.Ile760=)
c.1263T>C (p.Ile421=)
12g.55693246A>TCA480145470ITGA7c.*2231T>A (n.*2231T>A)
c.1278T>A
n.2022T>A
c.2133T>A (p.Ile711=)
c.2619T>A (p.Ile873=)
c.*2318T>A (n.*2318T>A)
n.713T>A
c.*1091T>A (n.*1091T>A)
c.1420T>A
c.2607T>A (p.Ile869=)
c.2589T>A (p.Ile863=)
c.2328T>A (p.Ile776=)
c.672T>A
c.2739T>A (p.Ile913=)
c.2721T>A (p.Ile907=)
c.2400T>A (p.Ile800=)
c.2268T>A (p.Ile756=)
c.2265T>A (p.Ile755=)
c.2349T>A (p.Ile783=)
c.2280T>A (p.Ile760=)
c.1263T>A (p.Ile421=)
12g.55693247A=CA2038035935ITGA7c.*2230T= (n.*2230T=)
c.1277T=
n.2021T=
c.2132T= (p.Ile711=)
c.2618T= (p.Ile873=)
c.*2317T= (n.*2317T=)
n.712T=
c.*1090T= (n.*1090T=)
c.1419T=
c.2606T= (p.Ile869=)
c.2588T= (p.Ile863=)
c.2327T= (p.Ile776=)
c.671T=
c.2738T= (p.Ile913=)
c.2720T= (p.Ile907=)
c.2399T= (p.Ile800=)
c.2267T= (p.Ile756=)
c.2264T= (p.Ile755=)
c.2348T= (p.Ile783=)
c.2279T= (p.Ile760=)
c.1262T= (p.Ile421=)
12g.55693247A>CCA385181687ITGA7c.*2230T>G (n.*2230T>G)
c.1277T>G
n.2021T>G
c.2132T>G (p.Ile711Ser)
c.2618T>G (p.Ile873Ser)
c.*2317T>G (n.*2317T>G)
n.712T>G
c.*1090T>G (n.*1090T>G)
c.1419T>G
c.2606T>G (p.Ile869Ser)
c.2588T>G (p.Ile863Ser)
c.2327T>G (p.Ile776Ser)
c.671T>G
c.2738T>G (p.Ile913Ser)
c.2720T>G (p.Ile907Ser)
c.2399T>G (p.Ile800Ser)
c.2267T>G (p.Ile756Ser)
c.2264T>G (p.Ile755Ser)
c.2348T>G (p.Ile783Ser)
c.2279T>G (p.Ile760Ser)
c.1262T>G (p.Ile421Ser)
12g.55693247A>GCA6615525ITGA7c.*2230T>C (n.*2230T>C)
c.1277T>C
n.2021T>C
c.2132T>C (p.Ile711Thr)
c.2618T>C (p.Ile873Thr)
c.*2317T>C (n.*2317T>C)
n.712T>C
c.*1090T>C (n.*1090T>C)
c.1419T>C
c.2606T>C (p.Ile869Thr)
c.2588T>C (p.Ile863Thr)
c.2327T>C (p.Ile776Thr)
c.671T>C
c.2738T>C (p.Ile913Thr)
c.2720T>C (p.Ile907Thr)
c.2399T>C (p.Ile800Thr)
c.2267T>C (p.Ile756Thr)
c.2264T>C (p.Ile755Thr)
c.2348T>C (p.Ile783Thr)
c.2279T>C (p.Ile760Thr)
c.1262T>C (p.Ile421Thr)
 dbSNP ExAC gnomAD v2
12g.55693247A>TCA385181688ITGA7c.*2230T>A (n.*2230T>A)
c.1277T>A
n.2021T>A
c.2132T>A (p.Ile711Asn)
c.2618T>A (p.Ile873Asn)
c.*2317T>A (n.*2317T>A)
n.712T>A
c.*1090T>A (n.*1090T>A)
c.1419T>A
c.2606T>A (p.Ile869Asn)
c.2588T>A (p.Ile863Asn)
c.2327T>A (p.Ile776Asn)
c.671T>A
c.2738T>A (p.Ile913Asn)
c.2720T>A (p.Ile907Asn)
c.2399T>A (p.Ile800Asn)
c.2267T>A (p.Ile756Asn)
c.2264T>A (p.Ile755Asn)
c.2348T>A (p.Ile783Asn)
c.2279T>A (p.Ile760Asn)
c.1262T>A (p.Ile421Asn)
12g.55693248T>ACA385181689ITGA7c.*2229A>T (n.*2229A>T)
c.1276A>T
n.2020A>T
c.2131A>T (p.Ile711Phe)
c.2617A>T (p.Ile873Phe)
c.*2316A>T (n.*2316A>T)
n.711A>T
c.*1089A>T (n.*1089A>T)
c.1418A>T
c.2605A>T (p.Ile869Phe)
c.2587A>T (p.Ile863Phe)
c.2326A>T (p.Ile776Phe)
c.670A>T
c.2737A>T (p.Ile913Phe)
c.2719A>T (p.Ile907Phe)
c.2398A>T (p.Ile800Phe)
c.2266A>T (p.Ile756Phe)
c.2263A>T (p.Ile755Phe)
c.2347A>T (p.Ile783Phe)
c.2278A>T (p.Ile760Phe)
c.1261A>T (p.Ile421Phe)
12g.55693248T>CCA385181690ITGA7c.*2229A>G (n.*2229A>G)
c.1276A>G
n.2020A>G
c.2131A>G (p.Ile711Val)
c.2617A>G (p.Ile873Val)
c.*2316A>G (n.*2316A>G)
n.711A>G
c.*1089A>G (n.*1089A>G)
c.1418A>G
c.2605A>G (p.Ile869Val)
c.2587A>G (p.Ile863Val)
c.2326A>G (p.Ile776Val)
c.670A>G
c.2737A>G (p.Ile913Val)
c.2719A>G (p.Ile907Val)
c.2398A>G (p.Ile800Val)
c.2266A>G (p.Ile756Val)
c.2263A>G (p.Ile755Val)
c.2347A>G (p.Ile783Val)
c.2278A>G (p.Ile760Val)
c.1261A>G (p.Ile421Val)
12g.55693248T>GCA385181691ITGA7c.*2229A>C (n.*2229A>C)
c.1276A>C
n.2020A>C
c.2131A>C (p.Ile711Leu)
c.2617A>C (p.Ile873Leu)
c.*2316A>C (n.*2316A>C)
n.711A>C
c.*1089A>C (n.*1089A>C)
c.1418A>C
c.2605A>C (p.Ile869Leu)
c.2587A>C (p.Ile863Leu)
c.2326A>C (p.Ile776Leu)
c.670A>C
c.2737A>C (p.Ile913Leu)
c.2719A>C (p.Ile907Leu)
c.2398A>C (p.Ile800Leu)
c.2266A>C (p.Ile756Leu)
c.2263A>C (p.Ile755Leu)
c.2347A>C (p.Ile783Leu)
c.2278A>C (p.Ile760Leu)
c.1261A>C (p.Ile421Leu)
12g.55693249C>ACA385181692ITGA7c.*2228G>T (n.*2228G>T)
c.1275G>T
n.2019G>T
c.2130G>T (p.Glu710Asp)
c.2616G>T (p.Glu872Asp)
c.*2315G>T (n.*2315G>T)
n.710G>T
c.*1088G>T (n.*1088G>T)
c.1417G>T
c.2604G>T (p.Glu868Asp)
c.2586G>T (p.Glu862Asp)
c.2325G>T (p.Glu775Asp)
c.669G>T
c.2736G>T (p.Glu912Asp)
c.2718G>T (p.Glu906Asp)
c.2397G>T (p.Glu799Asp)
c.2265G>T (p.Glu755Asp)
c.2262G>T (p.Glu754Asp)
c.2346G>T (p.Glu782Asp)
c.2277G>T (p.Glu759Asp)
c.1260G>T (p.Glu420Asp)
12g.55693249C=CA2038035939ITGA7c.*2228G= (n.*2228G=)
c.1275G=
n.2019G=
c.2130G= (p.Glu710=)
c.2616G= (p.Glu872=)
c.*2315G= (n.*2315G=)
n.710G=
c.*1088G= (n.*1088G=)
c.1417G=
c.2604G= (p.Glu868=)
c.2586G= (p.Glu862=)
c.2325G= (p.Glu775=)
c.669G=
c.2736G= (p.Glu912=)
c.2718G= (p.Glu906=)
c.2397G= (p.Glu799=)
c.2265G= (p.Glu755=)
c.2262G= (p.Glu754=)
c.2346G= (p.Glu782=)
c.2277G= (p.Glu759=)
c.1260G= (p.Glu420=)
12g.55693249C>GCA385181693ITGA7c.*2228G>C (n.*2228G>C)
c.1275G>C
n.2019G>C
c.2130G>C (p.Glu710Asp)
c.2616G>C (p.Glu872Asp)
c.*2315G>C (n.*2315G>C)
n.710G>C
c.*1088G>C (n.*1088G>C)
c.1417G>C
c.2604G>C (p.Glu868Asp)
c.2586G>C (p.Glu862Asp)
c.2325G>C (p.Glu775Asp)
c.669G>C
c.2736G>C (p.Glu912Asp)
c.2718G>C (p.Glu906Asp)
c.2397G>C (p.Glu799Asp)
c.2265G>C (p.Glu755Asp)
c.2262G>C (p.Glu754Asp)
c.2346G>C (p.Glu782Asp)
c.2277G>C (p.Glu759Asp)
c.1260G>C (p.Glu420Asp)
12g.55693249C>TCA480145479ITGA7c.*2228G>A (n.*2228G>A)
c.1275G>A
n.2019G>A
c.2130G>A (p.Glu710=)
c.2616G>A (p.Glu872=)
c.*2315G>A (n.*2315G>A)
n.710G>A
c.*1088G>A (n.*1088G>A)
c.1417G>A
c.2604G>A (p.Glu868=)
c.2586G>A (p.Glu862=)
c.2325G>A (p.Glu775=)
c.669G>A
c.2736G>A (p.Glu912=)
c.2718G>A (p.Glu906=)
c.2397G>A (p.Glu799=)
c.2265G>A (p.Glu755=)
c.2262G>A (p.Glu754=)
c.2346G>A (p.Glu782=)
c.2277G>A (p.Glu759=)
c.1260G>A (p.Glu420=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693250T>ACA385181694ITGA7c.*2227A>T (n.*2227A>T)
c.1274A>T
n.2018A>T
c.2129A>T (p.Glu710Val)
c.2615A>T (p.Glu872Val)
c.*2314A>T (n.*2314A>T)
n.709A>T
c.*1087A>T (n.*1087A>T)
c.1416A>T
c.2603A>T (p.Glu868Val)
c.2585A>T (p.Glu862Val)
c.2324A>T (p.Glu775Val)
c.668A>T
c.2735A>T (p.Glu912Val)
c.2717A>T (p.Glu906Val)
c.2396A>T (p.Glu799Val)
c.2264A>T (p.Glu755Val)
c.2261A>T (p.Glu754Val)
c.2345A>T (p.Glu782Val)
c.2276A>T (p.Glu759Val)
c.1259A>T (p.Glu420Val)
12g.55693250T>CCA385181695ITGA7c.*2227A>G (n.*2227A>G)
c.1274A>G
n.2018A>G
c.2129A>G (p.Glu710Gly)
c.2615A>G (p.Glu872Gly)
c.*2314A>G (n.*2314A>G)
n.709A>G
c.*1087A>G (n.*1087A>G)
c.1416A>G
c.2603A>G (p.Glu868Gly)
c.2585A>G (p.Glu862Gly)
c.2324A>G (p.Glu775Gly)
c.668A>G
c.2735A>G (p.Glu912Gly)
c.2717A>G (p.Glu906Gly)
c.2396A>G (p.Glu799Gly)
c.2264A>G (p.Glu755Gly)
c.2261A>G (p.Glu754Gly)
c.2345A>G (p.Glu782Gly)
c.2276A>G (p.Glu759Gly)
c.1259A>G (p.Glu420Gly)
12g.55693250T>GCA385181696ITGA7c.*2227A>C (n.*2227A>C)
c.1274A>C
n.2018A>C
c.2129A>C (p.Glu710Ala)
c.2615A>C (p.Glu872Ala)
c.*2314A>C (n.*2314A>C)
n.709A>C
c.*1087A>C (n.*1087A>C)
c.1416A>C
c.2603A>C (p.Glu868Ala)
c.2585A>C (p.Glu862Ala)
c.2324A>C (p.Glu775Ala)
c.668A>C
c.2735A>C (p.Glu912Ala)
c.2717A>C (p.Glu906Ala)
c.2396A>C (p.Glu799Ala)
c.2264A>C (p.Glu755Ala)
c.2261A>C (p.Glu754Ala)
c.2345A>C (p.Glu782Ala)
c.2276A>C (p.Glu759Ala)
c.1259A>C (p.Glu420Ala)
12g.55693251C>ACA385181698ITGA7c.*2226G>T (n.*2226G>T)
c.1273G>T
n.2017G>T
c.2128G>T (p.Glu710Ter)
c.2614G>T (p.Glu872Ter)
c.*2313G>T (n.*2313G>T)
n.708G>T
c.*1086G>T (n.*1086G>T)
c.1415G>T
c.2602G>T (p.Glu868Ter)
c.2584G>T (p.Glu862Ter)
c.2323G>T (p.Glu775Ter)
c.667G>T
c.2734G>T (p.Glu912Ter)
c.2716G>T (p.Glu906Ter)
c.2395G>T (p.Glu799Ter)
c.2263G>T (p.Glu755Ter)
c.2260G>T (p.Glu754Ter)
c.2344G>T (p.Glu782Ter)
c.2275G>T (p.Glu759Ter)
c.1258G>T (p.Glu420Ter)
12g.55693251C>GCA385181699ITGA7c.*2226G>C (n.*2226G>C)
c.1273G>C
n.2017G>C
c.2128G>C (p.Glu710Gln)
c.2614G>C (p.Glu872Gln)
c.*2313G>C (n.*2313G>C)
n.708G>C
c.*1086G>C (n.*1086G>C)
c.1415G>C
c.2602G>C (p.Glu868Gln)
c.2584G>C (p.Glu862Gln)
c.2323G>C (p.Glu775Gln)
c.667G>C
c.2734G>C (p.Glu912Gln)
c.2716G>C (p.Glu906Gln)
c.2395G>C (p.Glu799Gln)
c.2263G>C (p.Glu755Gln)
c.2260G>C (p.Glu754Gln)
c.2344G>C (p.Glu782Gln)
c.2275G>C (p.Glu759Gln)
c.1258G>C (p.Glu420Gln)
12g.55693251C>TCA385181697ITGA7c.*2226G>A (n.*2226G>A)
c.1273G>A
n.2017G>A
c.2128G>A (p.Glu710Lys)
c.2614G>A (p.Glu872Lys)
c.*2313G>A (n.*2313G>A)
n.708G>A
c.*1086G>A (n.*1086G>A)
c.1415G>A
c.2602G>A (p.Glu868Lys)
c.2584G>A (p.Glu862Lys)
c.2323G>A (p.Glu775Lys)
c.667G>A
c.2734G>A (p.Glu912Lys)
c.2716G>A (p.Glu906Lys)
c.2395G>A (p.Glu799Lys)
c.2263G>A (p.Glu755Lys)
c.2260G>A (p.Glu754Lys)
c.2344G>A (p.Glu782Lys)
c.2275G>A (p.Glu759Lys)
c.1258G>A (p.Glu420Lys)
 gnomAD v4
12g.55693252A=CA2038035943ITGA7c.*2225T= (n.*2225T=)
c.1272T=
n.2016T=
c.2127T= (p.His709=)
c.2613T= (p.His871=)
c.*2312T= (n.*2312T=)
n.707T=
c.*1085T= (n.*1085T=)
c.1414T=
c.2601T= (p.His867=)
c.2583T= (p.His861=)
c.2322T= (p.His774=)
c.666T=
c.2733T= (p.His911=)
c.2715T= (p.His905=)
c.2394T= (p.His798=)
c.2262T= (p.His754=)
c.2259T= (p.His753=)
c.2343T= (p.His781=)
c.2274T= (p.His758=)
c.1257T= (p.His419=)
12g.55693252A>CCA385181700ITGA7c.*2225T>G (n.*2225T>G)
c.1272T>G
n.2016T>G
c.2127T>G (p.His709Gln)
c.2613T>G (p.His871Gln)
c.*2312T>G (n.*2312T>G)
n.707T>G
c.*1085T>G (n.*1085T>G)
c.1414T>G
c.2601T>G (p.His867Gln)
c.2583T>G (p.His861Gln)
c.2322T>G (p.His774Gln)
c.666T>G
c.2733T>G (p.His911Gln)
c.2715T>G (p.His905Gln)
c.2394T>G (p.His798Gln)
c.2262T>G (p.His754Gln)
c.2259T>G (p.His753Gln)
c.2343T>G (p.His781Gln)
c.2274T>G (p.His758Gln)
c.1257T>G (p.His419Gln)
 dbSNP gnomAD v3 gnomAD v4
12g.55693252A>GCA480145487ITGA7c.*2225T>C (n.*2225T>C)
c.1272T>C
n.2016T>C
c.2127T>C (p.His709=)
c.2613T>C (p.His871=)
c.*2312T>C (n.*2312T>C)
n.707T>C
c.*1085T>C (n.*1085T>C)
c.1414T>C
c.2601T>C (p.His867=)
c.2583T>C (p.His861=)
c.2322T>C (p.His774=)
c.666T>C
c.2733T>C (p.His911=)
c.2715T>C (p.His905=)
c.2394T>C (p.His798=)
c.2262T>C (p.His754=)
c.2259T>C (p.His753=)
c.2343T>C (p.His781=)
c.2274T>C (p.His758=)
c.1257T>C (p.His419=)
 ClinVar gnomAD v4
12g.55693252A>TCA385181701ITGA7c.*2225T>A (n.*2225T>A)
c.1272T>A
n.2016T>A
c.2127T>A (p.His709Gln)
c.2613T>A (p.His871Gln)
c.*2312T>A (n.*2312T>A)
n.707T>A
c.*1085T>A (n.*1085T>A)
c.1414T>A
c.2601T>A (p.His867Gln)
c.2583T>A (p.His861Gln)
c.2322T>A (p.His774Gln)
c.666T>A
c.2733T>A (p.His911Gln)
c.2715T>A (p.His905Gln)
c.2394T>A (p.His798Gln)
c.2262T>A (p.His754Gln)
c.2259T>A (p.His753Gln)
c.2343T>A (p.His781Gln)
c.2274T>A (p.His758Gln)
c.1257T>A (p.His419Gln)
12g.55693253T>ACA385181702ITGA7c.*2224A>T (n.*2224A>T)
c.1271A>T
n.2015A>T
c.2126A>T (p.His709Leu)
c.2612A>T (p.His871Leu)
c.*2311A>T (n.*2311A>T)
n.706A>T
c.*1084A>T (n.*1084A>T)
c.1413A>T
c.2600A>T (p.His867Leu)
c.2582A>T (p.His861Leu)
c.2321A>T (p.His774Leu)
c.665A>T
c.2732A>T (p.His911Leu)
c.2714A>T (p.His905Leu)
c.2393A>T (p.His798Leu)
c.2261A>T (p.His754Leu)
c.2258A>T (p.His753Leu)
c.2342A>T (p.His781Leu)
c.2273A>T (p.His758Leu)
c.1256A>T (p.His419Leu)
12g.55693253T>CCA385181703ITGA7c.*2224A>G (n.*2224A>G)
c.1271A>G
n.2015A>G
c.2126A>G (p.His709Arg)
c.2612A>G (p.His871Arg)
c.*2311A>G (n.*2311A>G)
n.706A>G
c.*1084A>G (n.*1084A>G)
c.1413A>G
c.2600A>G (p.His867Arg)
c.2582A>G (p.His861Arg)
c.2321A>G (p.His774Arg)
c.665A>G
c.2732A>G (p.His911Arg)
c.2714A>G (p.His905Arg)
c.2393A>G (p.His798Arg)
c.2261A>G (p.His754Arg)
c.2258A>G (p.His753Arg)
c.2342A>G (p.His781Arg)
c.2273A>G (p.His758Arg)
c.1256A>G (p.His419Arg)
12g.55693253T>GCA385181704ITGA7c.*2224A>C (n.*2224A>C)
c.1271A>C
n.2015A>C
c.2126A>C (p.His709Pro)
c.2612A>C (p.His871Pro)
c.*2311A>C (n.*2311A>C)
n.706A>C
c.*1084A>C (n.*1084A>C)
c.1413A>C
c.2600A>C (p.His867Pro)
c.2582A>C (p.His861Pro)
c.2321A>C (p.His774Pro)
c.665A>C
c.2732A>C (p.His911Pro)
c.2714A>C (p.His905Pro)
c.2393A>C (p.His798Pro)
c.2261A>C (p.His754Pro)
c.2258A>C (p.His753Pro)
c.2342A>C (p.His781Pro)
c.2273A>C (p.His758Pro)
c.1256A>C (p.His419Pro)
12g.55693254G>ACA385181707ITGA7c.*2223C>T (n.*2223C>T)
c.1270C>T
n.2014C>T
c.2125C>T (p.His709Tyr)
c.2611C>T (p.His871Tyr)
c.*2310C>T (n.*2310C>T)
n.705C>T
c.*1083C>T (n.*1083C>T)
c.1412C>T
c.2599C>T (p.His867Tyr)
c.2581C>T (p.His861Tyr)
c.2320C>T (p.His774Tyr)
c.664C>T
c.2731C>T (p.His911Tyr)
c.2713C>T (p.His905Tyr)
c.2392C>T (p.His798Tyr)
c.2260C>T (p.His754Tyr)
c.2257C>T (p.His753Tyr)
c.2341C>T (p.His781Tyr)
c.2272C>T (p.His758Tyr)
c.1255C>T (p.His419Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.55693254G>CCA385181705ITGA7c.*2223C>G (n.*2223C>G)
c.1270C>G
n.2014C>G
c.2125C>G (p.His709Asp)
c.2611C>G (p.His871Asp)
c.*2310C>G (n.*2310C>G)
n.705C>G
c.*1083C>G (n.*1083C>G)
c.1412C>G
c.2599C>G (p.His867Asp)
c.2581C>G (p.His861Asp)
c.2320C>G (p.His774Asp)
c.664C>G
c.2731C>G (p.His911Asp)
c.2713C>G (p.His905Asp)
c.2392C>G (p.His798Asp)
c.2260C>G (p.His754Asp)
c.2257C>G (p.His753Asp)
c.2341C>G (p.His781Asp)
c.2272C>G (p.His758Asp)
c.1255C>G (p.His419Asp)
 gnomAD v4
12g.55693254G=CA2038035950ITGA7c.*2223C= (n.*2223C=)
c.1270C=
n.2014C=
c.2125C= (p.His709=)
c.2611C= (p.His871=)
c.*2310C= (n.*2310C=)
n.705C=
c.*1083C= (n.*1083C=)
c.1412C=
c.2599C= (p.His867=)
c.2581C= (p.His861=)
c.2320C= (p.His774=)
c.664C=
c.2731C= (p.His911=)
c.2713C= (p.His905=)
c.2392C= (p.His798=)
c.2260C= (p.His754=)
c.2257C= (p.His753=)
c.2341C= (p.His781=)
c.2272C= (p.His758=)
c.1255C= (p.His419=)
12g.55693254G>TCA385181706ITGA7c.*2223C>A (n.*2223C>A)
c.1270C>A
n.2014C>A
c.2125C>A (p.His709Asn)
c.2611C>A (p.His871Asn)
c.*2310C>A (n.*2310C>A)
n.705C>A
c.*1083C>A (n.*1083C>A)
c.1412C>A
c.2599C>A (p.His867Asn)
c.2581C>A (p.His861Asn)
c.2320C>A (p.His774Asn)
c.664C>A
c.2731C>A (p.His911Asn)
c.2713C>A (p.His905Asn)
c.2392C>A (p.His798Asn)
c.2260C>A (p.His754Asn)
c.2257C>A (p.His753Asn)
c.2341C>A (p.His781Asn)
c.2272C>A (p.His758Asn)
c.1255C>A (p.His419Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.55693255A>CCA480145495ITGA7c.*2222T>G (n.*2222T>G)
c.1269T>G
n.2013T>G
c.2124T>G (p.Pro708=)
c.2610T>G (p.Pro870=)
c.*2309T>G (n.*2309T>G)
n.704T>G
c.*1082T>G (n.*1082T>G)
c.1411T>G
c.2598T>G (p.Pro866=)
c.2580T>G (p.Pro860=)
c.2319T>G (p.Pro773=)
c.663T>G
c.2730T>G (p.Pro910=)
c.2712T>G (p.Pro904=)
c.2391T>G (p.Pro797=)
c.2259T>G (p.Pro753=)
c.2256T>G (p.Pro752=)
c.2340T>G (p.Pro780=)
c.2271T>G (p.Pro757=)
c.1254T>G (p.Pro418=)
12g.55693255A>GCA480145497ITGA7c.*2222T>C (n.*2222T>C)
c.1269T>C
n.2013T>C
c.2124T>C (p.Pro708=)
c.2610T>C (p.Pro870=)
c.*2309T>C (n.*2309T>C)
n.704T>C
c.*1082T>C (n.*1082T>C)
c.1411T>C
c.2598T>C (p.Pro866=)
c.2580T>C (p.Pro860=)
c.2319T>C (p.Pro773=)
c.663T>C
c.2730T>C (p.Pro910=)
c.2712T>C (p.Pro904=)
c.2391T>C (p.Pro797=)
c.2259T>C (p.Pro753=)
c.2256T>C (p.Pro752=)
c.2340T>C (p.Pro780=)
c.2271T>C (p.Pro757=)
c.1254T>C (p.Pro418=)
12g.55693255A>TCA480145499ITGA7c.*2222T>A (n.*2222T>A)
c.1269T>A
n.2013T>A
c.2124T>A (p.Pro708=)
c.2610T>A (p.Pro870=)
c.*2309T>A (n.*2309T>A)
n.704T>A
c.*1082T>A (n.*1082T>A)
c.1411T>A
c.2598T>A (p.Pro866=)
c.2580T>A (p.Pro860=)
c.2319T>A (p.Pro773=)
c.663T>A
c.2730T>A (p.Pro910=)
c.2712T>A (p.Pro904=)
c.2391T>A (p.Pro797=)
c.2259T>A (p.Pro753=)
c.2256T>A (p.Pro752=)
c.2340T>A (p.Pro780=)
c.2271T>A (p.Pro757=)
c.1254T>A (p.Pro418=)
12g.55693256G>ACA6615526ITGA7c.*2221C>T (n.*2221C>T)
c.1268C>T
n.2012C>T
c.2123C>T (p.Pro708Leu)
c.2609C>T (p.Pro870Leu)
c.*2308C>T (n.*2308C>T)
n.703C>T
c.*1081C>T (n.*1081C>T)
c.1410C>T
c.2597C>T (p.Pro866Leu)
c.2579C>T (p.Pro860Leu)
c.2318C>T (p.Pro773Leu)
c.662C>T
c.2729C>T (p.Pro910Leu)
c.2711C>T (p.Pro904Leu)
c.2390C>T (p.Pro797Leu)
c.2258C>T (p.Pro753Leu)
c.2255C>T (p.Pro752Leu)
c.2339C>T (p.Pro780Leu)
c.2270C>T (p.Pro757Leu)
c.1253C>T (p.Pro418Leu)
 dbSNP ExAC
12g.55693256G>CCA385181708ITGA7c.*2221C>G (n.*2221C>G)
c.1268C>G
n.2012C>G
c.2123C>G (p.Pro708Arg)
c.2609C>G (p.Pro870Arg)
c.*2308C>G (n.*2308C>G)
n.703C>G
c.*1081C>G (n.*1081C>G)
c.1410C>G
c.2597C>G (p.Pro866Arg)
c.2579C>G (p.Pro860Arg)
c.2318C>G (p.Pro773Arg)
c.662C>G
c.2729C>G (p.Pro910Arg)
c.2711C>G (p.Pro904Arg)
c.2390C>G (p.Pro797Arg)
c.2258C>G (p.Pro753Arg)
c.2255C>G (p.Pro752Arg)
c.2339C>G (p.Pro780Arg)
c.2270C>G (p.Pro757Arg)
c.1253C>G (p.Pro418Arg)
12g.55693256G=CA2038035958ITGA7c.*2221C= (n.*2221C=)
c.1268C=
n.2012C=
c.2123C= (p.Pro708=)
c.2609C= (p.Pro870=)
c.*2308C= (n.*2308C=)
n.703C=
c.*1081C= (n.*1081C=)
c.1410C=
c.2597C= (p.Pro866=)
c.2579C= (p.Pro860=)
c.2318C= (p.Pro773=)
c.662C=
c.2729C= (p.Pro910=)
c.2711C= (p.Pro904=)
c.2390C= (p.Pro797=)
c.2258C= (p.Pro753=)
c.2255C= (p.Pro752=)
c.2339C= (p.Pro780=)
c.2270C= (p.Pro757=)
c.1253C= (p.Pro418=)
12g.55693256G>TCA385181709ITGA7c.*2221C>A (n.*2221C>A)
c.1268C>A
n.2012C>A
c.2123C>A (p.Pro708His)
c.2609C>A (p.Pro870His)
c.*2308C>A (n.*2308C>A)
n.703C>A
c.*1081C>A (n.*1081C>A)
c.1410C>A
c.2597C>A (p.Pro866His)
c.2579C>A (p.Pro860His)
c.2318C>A (p.Pro773His)
c.662C>A
c.2729C>A (p.Pro910His)
c.2711C>A (p.Pro904His)
c.2390C>A (p.Pro797His)
c.2258C>A (p.Pro753His)
c.2255C>A (p.Pro752His)
c.2339C>A (p.Pro780His)
c.2270C>A (p.Pro757His)
c.1253C>A (p.Pro418His)
12g.55693257delCA2575182696ITGA7c.*2221del (n.*2221del)
c.1268del
n.2012del
c.2123del (p.Pro708LeufsTer?)
c.2609del (p.Pro870LeufsTer?)
c.*2308del (n.*2308del)
n.703del
c.*1081del (n.*1081del)
c.1410del
c.2597del (p.Pro866LeufsTer?)
c.2579del (p.Pro860LeufsTer?)
c.2318del (p.Pro773LeufsTer?)
c.662del
c.2729del (p.Pro910LeufsTer?)
c.2711del (p.Pro904LeufsTer?)
c.2390del (p.Pro797LeufsTer?)
c.2258del (p.Pro753LeufsTer?)
c.2255del (p.Pro752LeufsTer?)
c.2339del (p.Pro780LeufsTer?)
c.2270del (p.Pro757LeufsTer?)
c.1253del (p.Pro418LeufsTer?)
 gnomAD v4
12g.55693257G>ACA385181710ITGA7c.*2220C>T (n.*2220C>T)
c.1267C>T
n.2011C>T
c.2122C>T (p.Pro708Ser)
c.2608C>T (p.Pro870Ser)
c.*2307C>T (n.*2307C>T)
n.702C>T
c.*1080C>T (n.*1080C>T)
c.1409C>T
c.2596C>T (p.Pro866Ser)
c.2578C>T (p.Pro860Ser)
c.2317C>T (p.Pro773Ser)
c.661C>T
c.2728C>T (p.Pro910Ser)
c.2710C>T (p.Pro904Ser)
c.2389C>T (p.Pro797Ser)
c.2257C>T (p.Pro753Ser)
c.2254C>T (p.Pro752Ser)
c.2338C>T (p.Pro780Ser)
c.2269C>T (p.Pro757Ser)
c.1252C>T (p.Pro418Ser)
 gnomAD v4
12g.55693257G>CCA385181711ITGA7c.*2220C>G (n.*2220C>G)
c.1267C>G
n.2011C>G
c.2122C>G (p.Pro708Ala)
c.2608C>G (p.Pro870Ala)
c.*2307C>G (n.*2307C>G)
n.702C>G
c.*1080C>G (n.*1080C>G)
c.1409C>G
c.2596C>G (p.Pro866Ala)
c.2578C>G (p.Pro860Ala)
c.2317C>G (p.Pro773Ala)
c.661C>G
c.2728C>G (p.Pro910Ala)
c.2710C>G (p.Pro904Ala)
c.2389C>G (p.Pro797Ala)
c.2257C>G (p.Pro753Ala)
c.2254C>G (p.Pro752Ala)
c.2338C>G (p.Pro780Ala)
c.2269C>G (p.Pro757Ala)
c.1252C>G (p.Pro418Ala)
12g.55693257G>TCA385181712ITGA7c.*2220C>A (n.*2220C>A)
c.1267C>A
n.2011C>A
c.2122C>A (p.Pro708Thr)
c.2608C>A (p.Pro870Thr)
c.*2307C>A (n.*2307C>A)
n.702C>A
c.*1080C>A (n.*1080C>A)
c.1409C>A
c.2596C>A (p.Pro866Thr)
c.2578C>A (p.Pro860Thr)
c.2317C>A (p.Pro773Thr)
c.661C>A
c.2728C>A (p.Pro910Thr)
c.2710C>A (p.Pro904Thr)
c.2389C>A (p.Pro797Thr)
c.2257C>A (p.Pro753Thr)
c.2254C>A (p.Pro752Thr)
c.2338C>A (p.Pro780Thr)
c.2269C>A (p.Pro757Thr)
c.1252C>A (p.Pro418Thr)
12g.55693258C>ACA385181714ITGA7c.*2219G>T (n.*2219G>T)
c.1266G>T
n.2010G>T
c.2121G>T (p.Trp707Cys)
c.2607G>T (p.Trp869Cys)
c.*2306G>T (n.*2306G>T)
n.701G>T
c.*1079G>T (n.*1079G>T)
c.1408G>T
c.2595G>T (p.Trp865Cys)
c.2577G>T (p.Trp859Cys)
c.2316G>T (p.Trp772Cys)
c.660G>T
c.2727G>T (p.Trp909Cys)
c.2709G>T (p.Trp903Cys)
c.2388G>T (p.Trp796Cys)
c.2256G>T (p.Trp752Cys)
c.2253G>T (p.Trp751Cys)
c.2337G>T (p.Trp779Cys)
c.2268G>T (p.Trp756Cys)
c.1251G>T (p.Trp417Cys)
 COSMIC COSMIC COSMIC COSMIC
12g.55693258C>GCA385181715ITGA7c.*2219G>C (n.*2219G>C)
c.1266G>C
n.2010G>C
c.2121G>C (p.Trp707Cys)
c.2607G>C (p.Trp869Cys)
c.*2306G>C (n.*2306G>C)
n.701G>C
c.*1079G>C (n.*1079G>C)
c.1408G>C
c.2595G>C (p.Trp865Cys)
c.2577G>C (p.Trp859Cys)
c.2316G>C (p.Trp772Cys)
c.660G>C
c.2727G>C (p.Trp909Cys)
c.2709G>C (p.Trp903Cys)
c.2388G>C (p.Trp796Cys)
c.2256G>C (p.Trp752Cys)
c.2253G>C (p.Trp751Cys)
c.2337G>C (p.Trp779Cys)
c.2268G>C (p.Trp756Cys)
c.1251G>C (p.Trp417Cys)
12g.55693258C>TCA385181713ITGA7c.*2219G>A (n.*2219G>A)
c.1266G>A
n.2010G>A
c.2121G>A (p.Trp707Ter)
c.2607G>A (p.Trp869Ter)
c.*2306G>A (n.*2306G>A)
n.701G>A
c.*1079G>A (n.*1079G>A)
c.1408G>A
c.2595G>A (p.Trp865Ter)
c.2577G>A (p.Trp859Ter)
c.2316G>A (p.Trp772Ter)
c.660G>A
c.2727G>A (p.Trp909Ter)
c.2709G>A (p.Trp903Ter)
c.2388G>A (p.Trp796Ter)
c.2256G>A (p.Trp752Ter)
c.2253G>A (p.Trp751Ter)
c.2337G>A (p.Trp779Ter)
c.2268G>A (p.Trp756Ter)
c.1251G>A (p.Trp417Ter)
12g.55693259C>ACA385181716ITGA7c.*2218G>T (n.*2218G>T)
c.1265G>T
n.2009G>T
c.2120G>T (p.Trp707Leu)
c.2606G>T (p.Trp869Leu)
c.*2305G>T (n.*2305G>T)
n.700G>T
c.*1078G>T (n.*1078G>T)
c.1407G>T
c.2594G>T (p.Trp865Leu)
c.2576G>T (p.Trp859Leu)
c.2315G>T (p.Trp772Leu)
c.659G>T
c.2726G>T (p.Trp909Leu)
c.2708G>T (p.Trp903Leu)
c.2387G>T (p.Trp796Leu)
c.2255G>T (p.Trp752Leu)
c.2252G>T (p.Trp751Leu)
c.2336G>T (p.Trp779Leu)
c.2267G>T (p.Trp756Leu)
c.1250G>T (p.Trp417Leu)
12g.55693259C>GCA385181717ITGA7c.*2218G>C (n.*2218G>C)
c.1265G>C
n.2009G>C
c.2120G>C (p.Trp707Ser)
c.2606G>C (p.Trp869Ser)
c.*2305G>C (n.*2305G>C)
n.700G>C
c.*1078G>C (n.*1078G>C)
c.1407G>C
c.2594G>C (p.Trp865Ser)
c.2576G>C (p.Trp859Ser)
c.2315G>C (p.Trp772Ser)
c.659G>C
c.2726G>C (p.Trp909Ser)
c.2708G>C (p.Trp903Ser)
c.2387G>C (p.Trp796Ser)
c.2255G>C (p.Trp752Ser)
c.2252G>C (p.Trp751Ser)
c.2336G>C (p.Trp779Ser)
c.2267G>C (p.Trp756Ser)
c.1250G>C (p.Trp417Ser)
12g.55693259C>TCA385181718ITGA7c.*2218G>A (n.*2218G>A)
c.1265G>A
n.2009G>A
c.2120G>A (p.Trp707Ter)
c.2606G>A (p.Trp869Ter)
c.*2305G>A (n.*2305G>A)
n.700G>A
c.*1078G>A (n.*1078G>A)
c.1407G>A
c.2594G>A (p.Trp865Ter)
c.2576G>A (p.Trp859Ter)
c.2315G>A (p.Trp772Ter)
c.659G>A
c.2726G>A (p.Trp909Ter)
c.2708G>A (p.Trp903Ter)
c.2387G>A (p.Trp796Ter)
c.2255G>A (p.Trp752Ter)
c.2252G>A (p.Trp751Ter)
c.2336G>A (p.Trp779Ter)
c.2267G>A (p.Trp756Ter)
c.1250G>A (p.Trp417Ter)
12g.55693260A=CA2038035962ITGA7c.*2217T= (n.*2217T=)
c.1264T=
n.2008T=
c.2119T= (p.Trp707=)
c.2605T= (p.Trp869=)
c.*2304T= (n.*2304T=)
n.699T=
c.*1077T= (n.*1077T=)
c.1406T=
c.2593T= (p.Trp865=)
c.2575T= (p.Trp859=)
c.2314T= (p.Trp772=)
c.658T=
c.2725T= (p.Trp909=)
c.2707T= (p.Trp903=)
c.2386T= (p.Trp796=)
c.2254T= (p.Trp752=)
c.2251T= (p.Trp751=)
c.2335T= (p.Trp779=)
c.2266T= (p.Trp756=)
c.1249T= (p.Trp417=)
12g.55693260A>CCA385181719ITGA7c.*2217T>G (n.*2217T>G)
c.1264T>G
n.2008T>G
c.2119T>G (p.Trp707Gly)
c.2605T>G (p.Trp869Gly)
c.*2304T>G (n.*2304T>G)
n.699T>G
c.*1077T>G (n.*1077T>G)
c.1406T>G
c.2593T>G (p.Trp865Gly)
c.2575T>G (p.Trp859Gly)
c.2314T>G (p.Trp772Gly)
c.658T>G
c.2725T>G (p.Trp909Gly)
c.2707T>G (p.Trp903Gly)
c.2386T>G (p.Trp796Gly)
c.2254T>G (p.Trp752Gly)
c.2251T>G (p.Trp751Gly)
c.2335T>G (p.Trp779Gly)
c.2266T>G (p.Trp756Gly)
c.1249T>G (p.Trp417Gly)
 gnomAD v4
12g.55693260A>GCA385181720ITGA7c.*2217T>C (n.*2217T>C)
c.1264T>C
n.2008T>C
c.2119T>C (p.Trp707Arg)
c.2605T>C (p.Trp869Arg)
c.*2304T>C (n.*2304T>C)
n.699T>C
c.*1077T>C (n.*1077T>C)
c.1406T>C
c.2593T>C (p.Trp865Arg)
c.2575T>C (p.Trp859Arg)
c.2314T>C (p.Trp772Arg)
c.658T>C
c.2725T>C (p.Trp909Arg)
c.2707T>C (p.Trp903Arg)
c.2386T>C (p.Trp796Arg)
c.2254T>C (p.Trp752Arg)
c.2251T>C (p.Trp751Arg)
c.2335T>C (p.Trp779Arg)
c.2266T>C (p.Trp756Arg)
c.1249T>C (p.Trp417Arg)
12g.55693260A>TCA385181721ITGA7c.*2217T>A (n.*2217T>A)
c.1264T>A
n.2008T>A
c.2119T>A (p.Trp707Arg)
c.2605T>A (p.Trp869Arg)
c.*2304T>A (n.*2304T>A)
n.699T>A
c.*1077T>A (n.*1077T>A)
c.1406T>A
c.2593T>A (p.Trp865Arg)
c.2575T>A (p.Trp859Arg)
c.2314T>A (p.Trp772Arg)
c.658T>A
c.2725T>A (p.Trp909Arg)
c.2707T>A (p.Trp903Arg)
c.2386T>A (p.Trp796Arg)
c.2254T>A (p.Trp752Arg)
c.2251T>A (p.Trp751Arg)
c.2335T>A (p.Trp779Arg)
c.2266T>A (p.Trp756Arg)
c.1249T>A (p.Trp417Arg)
12g.55693260_55693261insTCTCA605246984ITGA7c.*2216_*2217insAGA (n.*2216_*2217insAGA)
c.1263_1264insAGA
n.2007_2008insAGA
c.2118_2119insAGA (p.Met706_Trp707insArg)
c.2604_2605insAGA (p.Met868_Trp869insArg)
c.*2303_*2304insAGA (n.*2303_*2304insAGA)
n.698_699insAGA
c.*1076_*1077insAGA (n.*1076_*1077insAGA)
c.1405_1406insAGA
c.2592_2593insAGA (p.Met864_Trp865insArg)
c.2574_2575insAGA (p.Met858_Trp859insArg)
c.2313_2314insAGA (p.Met771_Trp772insArg)
c.657_658insAGA
c.2724_2725insAGA (p.Met908_Trp909insArg)
c.2706_2707insAGA (p.Met902_Trp903insArg)
c.2385_2386insAGA (p.Met795_Trp796insArg)
c.2253_2254insAGA (p.Met751_Trp752insArg)
c.2250_2251insAGA (p.Met750_Trp751insArg)
c.2334_2335insAGA (p.Met778_Trp779insArg)
c.2265_2266insAGA (p.Met755_Trp756insArg)
c.1248_1249insAGA (p.Met416_Trp417insArg)
 dbSNP gnomAD v2 gnomAD v4
12g.55693261C>ACA385181722ITGA7c.*2216G>T (n.*2216G>T)
c.1263G>T
n.2007G>T
c.2118G>T (p.Met706Ile)
c.2604G>T (p.Met868Ile)
c.*2303G>T (n.*2303G>T)
n.698G>T
c.*1076G>T (n.*1076G>T)
c.1405G>T
c.2592G>T (p.Met864Ile)
c.2574G>T (p.Met858Ile)
c.2313G>T (p.Met771Ile)
c.657G>T
c.2724G>T (p.Met908Ile)
c.2706G>T (p.Met902Ile)
c.2385G>T (p.Met795Ile)
c.2253G>T (p.Met751Ile)
c.2250G>T (p.Met750Ile)
c.2334G>T (p.Met778Ile)
c.2265G>T (p.Met755Ile)
c.1248G>T (p.Met416Ile)
12g.55693261C>GCA385181723ITGA7c.*2216G>C (n.*2216G>C)
c.1263G>C
n.2007G>C
c.2118G>C (p.Met706Ile)
c.2604G>C (p.Met868Ile)
c.*2303G>C (n.*2303G>C)
n.698G>C
c.*1076G>C (n.*1076G>C)
c.1405G>C
c.2592G>C (p.Met864Ile)
c.2574G>C (p.Met858Ile)
c.2313G>C (p.Met771Ile)
c.657G>C
c.2724G>C (p.Met908Ile)
c.2706G>C (p.Met902Ile)
c.2385G>C (p.Met795Ile)
c.2253G>C (p.Met751Ile)
c.2250G>C (p.Met750Ile)
c.2334G>C (p.Met778Ile)
c.2265G>C (p.Met755Ile)
c.1248G>C (p.Met416Ile)
 dbSNP
12g.55693261C>TCA385181724ITGA7c.*2216G>A (n.*2216G>A)
c.1263G>A
n.2007G>A
c.2118G>A (p.Met706Ile)
c.2604G>A (p.Met868Ile)
c.*2303G>A (n.*2303G>A)
n.698G>A
c.*1076G>A (n.*1076G>A)
c.1405G>A
c.2592G>A (p.Met864Ile)
c.2574G>A (p.Met858Ile)
c.2313G>A (p.Met771Ile)
c.657G>A
c.2724G>A (p.Met908Ile)
c.2706G>A (p.Met902Ile)
c.2385G>A (p.Met795Ile)
c.2253G>A (p.Met751Ile)
c.2250G>A (p.Met750Ile)
c.2334G>A (p.Met778Ile)
c.2265G>A (p.Met755Ile)
c.1248G>A (p.Met416Ile)
12g.55693262delCA2619199403ITGA7c.*2215del (n.*2215del)
c.1262del
n.2006del
c.2117del (p.Met706SerfsTer?)
c.2603del (p.Met868SerfsTer?)
c.*2302del (n.*2302del)
n.697del
c.*1075del (n.*1075del)
c.1404del
c.2591del (p.Met864SerfsTer?)
c.2573del (p.Met858SerfsTer?)
c.2312del (p.Met771SerfsTer?)
c.656del
c.2723del (p.Met908SerfsTer?)
c.2705del (p.Met902SerfsTer?)
c.2384del (p.Met795SerfsTer?)
c.2252del (p.Met751SerfsTer?)
c.2249del (p.Met750SerfsTer?)
c.2333del (p.Met778SerfsTer?)
c.2264del (p.Met755SerfsTer?)
c.1247del (p.Met416SerfsTer?)
 gnomAD v4
12g.55693262A>CCA385181725ITGA7c.*2215T>G (n.*2215T>G)
c.1262T>G
n.2006T>G
c.2117T>G (p.Met706Arg)
c.2603T>G (p.Met868Arg)
c.*2302T>G (n.*2302T>G)
n.697T>G
c.*1075T>G (n.*1075T>G)
c.1404T>G
c.2591T>G (p.Met864Arg)
c.2573T>G (p.Met858Arg)
c.2312T>G (p.Met771Arg)
c.656T>G
c.2723T>G (p.Met908Arg)
c.2705T>G (p.Met902Arg)
c.2384T>G (p.Met795Arg)
c.2252T>G (p.Met751Arg)
c.2249T>G (p.Met750Arg)
c.2333T>G (p.Met778Arg)
c.2264T>G (p.Met755Arg)
c.1247T>G (p.Met416Arg)
12g.55693262A>GCA385181726ITGA7c.*2215T>C (n.*2215T>C)
c.1262T>C
n.2006T>C
c.2117T>C (p.Met706Thr)
c.2603T>C (p.Met868Thr)
c.*2302T>C (n.*2302T>C)
n.697T>C
c.*1075T>C (n.*1075T>C)
c.1404T>C
c.2591T>C (p.Met864Thr)
c.2573T>C (p.Met858Thr)
c.2312T>C (p.Met771Thr)
c.656T>C
c.2723T>C (p.Met908Thr)
c.2705T>C (p.Met902Thr)
c.2384T>C (p.Met795Thr)
c.2252T>C (p.Met751Thr)
c.2249T>C (p.Met750Thr)
c.2333T>C (p.Met778Thr)
c.2264T>C (p.Met755Thr)
c.1247T>C (p.Met416Thr)
12g.55693262A>TCA385181727ITGA7c.*2215T>A (n.*2215T>A)
c.1262T>A
n.2006T>A
c.2117T>A (p.Met706Lys)
c.2603T>A (p.Met868Lys)
c.*2302T>A (n.*2302T>A)
n.697T>A
c.*1075T>A (n.*1075T>A)
c.1404T>A
c.2591T>A (p.Met864Lys)
c.2573T>A (p.Met858Lys)
c.2312T>A (p.Met771Lys)
c.656T>A
c.2723T>A (p.Met908Lys)
c.2705T>A (p.Met902Lys)
c.2384T>A (p.Met795Lys)
c.2252T>A (p.Met751Lys)
c.2249T>A (p.Met750Lys)
c.2333T>A (p.Met778Lys)
c.2264T>A (p.Met755Lys)
c.1247T>A (p.Met416Lys)
12g.55693263T>ACA385181728ITGA7c.*2214A>T (n.*2214A>T)
c.1261A>T
n.2005A>T
c.2116A>T (p.Met706Leu)
c.2602A>T (p.Met868Leu)
c.*2301A>T (n.*2301A>T)
n.696A>T
c.*1074A>T (n.*1074A>T)
c.1403A>T
c.2590A>T (p.Met864Leu)
c.2572A>T (p.Met858Leu)
c.2311A>T (p.Met771Leu)
c.655A>T
c.2722A>T (p.Met908Leu)
c.2704A>T (p.Met902Leu)
c.2383A>T (p.Met795Leu)
c.2251A>T (p.Met751Leu)
c.2248A>T (p.Met750Leu)
c.2332A>T (p.Met778Leu)
c.2263A>T (p.Met755Leu)
c.1246A>T (p.Met416Leu)
12g.55693263T>CCA385181729ITGA7c.*2214A>G (n.*2214A>G)
c.1261A>G
n.2005A>G
c.2116A>G (p.Met706Val)
c.2602A>G (p.Met868Val)
c.*2301A>G (n.*2301A>G)
n.696A>G
c.*1074A>G (n.*1074A>G)
c.1403A>G
c.2590A>G (p.Met864Val)
c.2572A>G (p.Met858Val)
c.2311A>G (p.Met771Val)
c.655A>G
c.2722A>G (p.Met908Val)
c.2704A>G (p.Met902Val)
c.2383A>G (p.Met795Val)
c.2251A>G (p.Met751Val)
c.2248A>G (p.Met750Val)
c.2332A>G (p.Met778Val)
c.2263A>G (p.Met755Val)
c.1246A>G (p.Met416Val)
 ClinVar gnomAD v4
12g.55693263T>GCA385181730ITGA7c.*2214A>C (n.*2214A>C)
c.1261A>C
n.2005A>C
c.2116A>C (p.Met706Leu)
c.2602A>C (p.Met868Leu)
c.*2301A>C (n.*2301A>C)
n.696A>C
c.*1074A>C (n.*1074A>C)
c.1403A>C
c.2590A>C (p.Met864Leu)
c.2572A>C (p.Met858Leu)
c.2311A>C (p.Met771Leu)
c.655A>C
c.2722A>C (p.Met908Leu)
c.2704A>C (p.Met902Leu)
c.2383A>C (p.Met795Leu)
c.2251A>C (p.Met751Leu)
c.2248A>C (p.Met750Leu)
c.2332A>C (p.Met778Leu)
c.2263A>C (p.Met755Leu)
c.1246A>C (p.Met416Leu)
 gnomAD v4
12g.55693264G>ACA480145522ITGA7c.*2213C>T (n.*2213C>T)
c.1260C>T
n.2004C>T
c.2115C>T (p.Ile705=)
c.2601C>T (p.Ile867=)
c.*2300C>T (n.*2300C>T)
n.695C>T
c.*1073C>T (n.*1073C>T)
c.1402C>T
c.2589C>T (p.Ile863=)
c.2571C>T (p.Ile857=)
c.2310C>T (p.Ile770=)
c.654C>T
c.2721C>T (p.Ile907=)
c.2703C>T (p.Ile901=)
c.2382C>T (p.Ile794=)
c.2250C>T (p.Ile750=)
c.2247C>T (p.Ile749=)
c.2331C>T (p.Ile777=)
c.2262C>T (p.Ile754=)
c.1245C>T (p.Ile415=)
12g.55693264G>CCA385181731ITGA7c.*2213C>G (n.*2213C>G)
c.1260C>G
n.2004C>G
c.2115C>G (p.Ile705Met)
c.2601C>G (p.Ile867Met)
c.*2300C>G (n.*2300C>G)
n.695C>G
c.*1073C>G (n.*1073C>G)
c.1402C>G
c.2589C>G (p.Ile863Met)
c.2571C>G (p.Ile857Met)
c.2310C>G (p.Ile770Met)
c.654C>G
c.2721C>G (p.Ile907Met)
c.2703C>G (p.Ile901Met)
c.2382C>G (p.Ile794Met)
c.2250C>G (p.Ile750Met)
c.2247C>G (p.Ile749Met)
c.2331C>G (p.Ile777Met)
c.2262C>G (p.Ile754Met)
c.1245C>G (p.Ile415Met)
 gnomAD v4
12g.55693264G>TCA480145525ITGA7c.*2213C>A (n.*2213C>A)
c.1260C>A
n.2004C>A
c.2115C>A (p.Ile705=)
c.2601C>A (p.Ile867=)
c.*2300C>A (n.*2300C>A)
n.695C>A
c.*1073C>A (n.*1073C>A)
c.1402C>A
c.2589C>A (p.Ile863=)
c.2571C>A (p.Ile857=)
c.2310C>A (p.Ile770=)
c.654C>A
c.2721C>A (p.Ile907=)
c.2703C>A (p.Ile901=)
c.2382C>A (p.Ile794=)
c.2250C>A (p.Ile750=)
c.2247C>A (p.Ile749=)
c.2331C>A (p.Ile777=)
c.2262C>A (p.Ile754=)
c.1245C>A (p.Ile415=)
12g.55693265A>CCA385181732ITGA7c.*2212T>G (n.*2212T>G)
c.1259T>G
n.2003T>G
c.2114T>G (p.Ile705Ser)
c.2600T>G (p.Ile867Ser)
c.*2299T>G (n.*2299T>G)
n.694T>G
c.*1072T>G (n.*1072T>G)
c.1401T>G
c.2588T>G (p.Ile863Ser)
c.2570T>G (p.Ile857Ser)
c.2309T>G (p.Ile770Ser)
c.653T>G
c.2720T>G (p.Ile907Ser)
c.2702T>G (p.Ile901Ser)
c.2381T>G (p.Ile794Ser)
c.2249T>G (p.Ile750Ser)
c.2246T>G (p.Ile749Ser)
c.2330T>G (p.Ile777Ser)
c.2261T>G (p.Ile754Ser)
c.1244T>G (p.Ile415Ser)
12g.55693265A>GCA385181733ITGA7c.*2212T>C (n.*2212T>C)
c.1259T>C
n.2003T>C
c.2114T>C (p.Ile705Thr)
c.2600T>C (p.Ile867Thr)
c.*2299T>C (n.*2299T>C)
n.694T>C
c.*1072T>C (n.*1072T>C)
c.1401T>C
c.2588T>C (p.Ile863Thr)
c.2570T>C (p.Ile857Thr)
c.2309T>C (p.Ile770Thr)
c.653T>C
c.2720T>C (p.Ile907Thr)
c.2702T>C (p.Ile901Thr)
c.2381T>C (p.Ile794Thr)
c.2249T>C (p.Ile750Thr)
c.2246T>C (p.Ile749Thr)
c.2330T>C (p.Ile777Thr)
c.2261T>C (p.Ile754Thr)
c.1244T>C (p.Ile415Thr)
12g.55693265A>TCA385181734ITGA7c.*2212T>A (n.*2212T>A)
c.1259T>A
n.2003T>A
c.2114T>A (p.Ile705Asn)
c.2600T>A (p.Ile867Asn)
c.*2299T>A (n.*2299T>A)
n.694T>A
c.*1072T>A (n.*1072T>A)
c.1401T>A
c.2588T>A (p.Ile863Asn)
c.2570T>A (p.Ile857Asn)
c.2309T>A (p.Ile770Asn)
c.653T>A
c.2720T>A (p.Ile907Asn)
c.2702T>A (p.Ile901Asn)
c.2381T>A (p.Ile794Asn)
c.2249T>A (p.Ile750Asn)
c.2246T>A (p.Ile749Asn)
c.2330T>A (p.Ile777Asn)
c.2261T>A (p.Ile754Asn)
c.1244T>A (p.Ile415Asn)
12g.55693266T>ACA385181735ITGA7c.*2211A>T (n.*2211A>T)
c.1258A>T
n.2002A>T
c.2113A>T (p.Ile705Phe)
c.2599A>T (p.Ile867Phe)
c.*2298A>T (n.*2298A>T)
n.693A>T
c.*1071A>T (n.*1071A>T)
c.1400A>T
c.2587A>T (p.Ile863Phe)
c.2569A>T (p.Ile857Phe)
c.2308A>T (p.Ile770Phe)
c.652A>T
c.2719A>T (p.Ile907Phe)
c.2701A>T (p.Ile901Phe)
c.2380A>T (p.Ile794Phe)
c.2248A>T (p.Ile750Phe)
c.2245A>T (p.Ile749Phe)
c.2329A>T (p.Ile777Phe)
c.2260A>T (p.Ile754Phe)
c.1243A>T (p.Ile415Phe)
12g.55693266T>CCA385181736ITGA7c.*2211A>G (n.*2211A>G)
c.1258A>G
n.2002A>G
c.2113A>G (p.Ile705Val)
c.2599A>G (p.Ile867Val)
c.*2298A>G (n.*2298A>G)
n.693A>G
c.*1071A>G (n.*1071A>G)
c.1400A>G
c.2587A>G (p.Ile863Val)
c.2569A>G (p.Ile857Val)
c.2308A>G (p.Ile770Val)
c.652A>G
c.2719A>G (p.Ile907Val)
c.2701A>G (p.Ile901Val)
c.2380A>G (p.Ile794Val)
c.2248A>G (p.Ile750Val)
c.2245A>G (p.Ile749Val)
c.2329A>G (p.Ile777Val)
c.2260A>G (p.Ile754Val)
c.1243A>G (p.Ile415Val)
12g.55693266T>GCA385181737ITGA7c.*2211A>C (n.*2211A>C)
c.1258A>C
n.2002A>C
c.2113A>C (p.Ile705Leu)
c.2599A>C (p.Ile867Leu)
c.*2298A>C (n.*2298A>C)
n.693A>C
c.*1071A>C (n.*1071A>C)
c.1400A>C
c.2587A>C (p.Ile863Leu)
c.2569A>C (p.Ile857Leu)
c.2308A>C (p.Ile770Leu)
c.652A>C
c.2719A>C (p.Ile907Leu)
c.2701A>C (p.Ile901Leu)
c.2380A>C (p.Ile794Leu)
c.2248A>C (p.Ile750Leu)
c.2245A>C (p.Ile749Leu)
c.2329A>C (p.Ile777Leu)
c.2260A>C (p.Ile754Leu)
c.1243A>C (p.Ile415Leu)
12g.55693267G>ACA480145531ITGA7c.*2210C>T (n.*2210C>T)
c.1257C>T
n.2001C>T
c.2112C>T (p.Asn704=)
c.2598C>T (p.Asn866=)
c.*2297C>T (n.*2297C>T)
n.692C>T
c.*1070C>T (n.*1070C>T)
c.1399C>T
c.2586C>T (p.Asn862=)
c.2568C>T (p.Asn856=)
c.2307C>T (p.Asn769=)
c.651C>T
c.2718C>T (p.Asn906=)
c.2700C>T (p.Asn900=)
c.2379C>T (p.Asn793=)
c.2247C>T (p.Asn749=)
c.2244C>T (p.Asn748=)
c.2328C>T (p.Asn776=)
c.2259C>T (p.Asn753=)
c.1242C>T (p.Asn414=)
 dbSNP
12g.55693267G>CCA385181738ITGA7c.*2210C>G (n.*2210C>G)
c.1257C>G
n.2001C>G
c.2112C>G (p.Asn704Lys)
c.2598C>G (p.Asn866Lys)
c.*2297C>G (n.*2297C>G)
n.692C>G
c.*1070C>G (n.*1070C>G)
c.1399C>G
c.2586C>G (p.Asn862Lys)
c.2568C>G (p.Asn856Lys)
c.2307C>G (p.Asn769Lys)
c.651C>G
c.2718C>G (p.Asn906Lys)
c.2700C>G (p.Asn900Lys)
c.2379C>G (p.Asn793Lys)
c.2247C>G (p.Asn749Lys)
c.2244C>G (p.Asn748Lys)
c.2328C>G (p.Asn776Lys)
c.2259C>G (p.Asn753Lys)
c.1242C>G (p.Asn414Lys)
12g.55693267G=CA2038035966ITGA7c.*2210C= (n.*2210C=)
c.1257C=
n.2001C=
c.2112C= (p.Asn704=)
c.2598C= (p.Asn866=)
c.*2297C= (n.*2297C=)
n.692C=
c.*1070C= (n.*1070C=)
c.1399C=
c.2586C= (p.Asn862=)
c.2568C= (p.Asn856=)
c.2307C= (p.Asn769=)
c.651C=
c.2718C= (p.Asn906=)
c.2700C= (p.Asn900=)
c.2379C= (p.Asn793=)
c.2247C= (p.Asn749=)
c.2244C= (p.Asn748=)
c.2328C= (p.Asn776=)
c.2259C= (p.Asn753=)
c.1242C= (p.Asn414=)
12g.55693267G>TCA385181739ITGA7c.*2210C>A (n.*2210C>A)
c.1257C>A
n.2001C>A
c.2112C>A (p.Asn704Lys)
c.2598C>A (p.Asn866Lys)
c.*2297C>A (n.*2297C>A)
n.692C>A
c.*1070C>A (n.*1070C>A)
c.1399C>A
c.2586C>A (p.Asn862Lys)
c.2568C>A (p.Asn856Lys)
c.2307C>A (p.Asn769Lys)
c.651C>A
c.2718C>A (p.Asn906Lys)
c.2700C>A (p.Asn900Lys)
c.2379C>A (p.Asn793Lys)
c.2247C>A (p.Asn749Lys)
c.2244C>A (p.Asn748Lys)
c.2328C>A (p.Asn776Lys)
c.2259C>A (p.Asn753Lys)
c.1242C>A (p.Asn414Lys)
12g.55693268T>ACA385181740ITGA7c.*2209A>T (n.*2209A>T)
c.1256A>T
n.2000A>T
c.2111A>T (p.Asn704Ile)
c.2597A>T (p.Asn866Ile)
c.*2296A>T (n.*2296A>T)
n.691A>T
c.*1069A>T (n.*1069A>T)
c.1398A>T
c.2585A>T (p.Asn862Ile)
c.2567A>T (p.Asn856Ile)
c.2306A>T (p.Asn769Ile)
c.650A>T
c.2717A>T (p.Asn906Ile)
c.2699A>T (p.Asn900Ile)
c.2378A>T (p.Asn793Ile)
c.2246A>T (p.Asn749Ile)
c.2243A>T (p.Asn748Ile)
c.2327A>T (p.Asn776Ile)
c.2258A>T (p.Asn753Ile)
c.1241A>T (p.Asn414Ile)
12g.55693268T>CCA385181741ITGA7c.*2209A>G (n.*2209A>G)
c.1256A>G
n.2000A>G
c.2111A>G (p.Asn704Ser)
c.2597A>G (p.Asn866Ser)
c.*2296A>G (n.*2296A>G)
n.691A>G
c.*1069A>G (n.*1069A>G)
c.1398A>G
c.2585A>G (p.Asn862Ser)
c.2567A>G (p.Asn856Ser)
c.2306A>G (p.Asn769Ser)
c.650A>G
c.2717A>G (p.Asn906Ser)
c.2699A>G (p.Asn900Ser)
c.2378A>G (p.Asn793Ser)
c.2246A>G (p.Asn749Ser)
c.2243A>G (p.Asn748Ser)
c.2327A>G (p.Asn776Ser)
c.2258A>G (p.Asn753Ser)
c.1241A>G (p.Asn414Ser)
 ClinVar dbSNP
12g.55693268T>GCA385181742ITGA7c.*2209A>C (n.*2209A>C)
c.1256A>C
n.2000A>C
c.2111A>C (p.Asn704Thr)
c.2597A>C (p.Asn866Thr)
c.*2296A>C (n.*2296A>C)
n.691A>C
c.*1069A>C (n.*1069A>C)
c.1398A>C
c.2585A>C (p.Asn862Thr)
c.2567A>C (p.Asn856Thr)
c.2306A>C (p.Asn769Thr)
c.650A>C
c.2717A>C (p.Asn906Thr)
c.2699A>C (p.Asn900Thr)
c.2378A>C (p.Asn793Thr)
c.2246A>C (p.Asn749Thr)
c.2243A>C (p.Asn748Thr)
c.2327A>C (p.Asn776Thr)
c.2258A>C (p.Asn753Thr)
c.1241A>C (p.Asn414Thr)
12g.55693269T>ACA385181743ITGA7c.*2208A>T (n.*2208A>T)
c.1255A>T
n.1999A>T
c.2110A>T (p.Asn704Tyr)
c.2596A>T (p.Asn866Tyr)
c.*2295A>T (n.*2295A>T)
n.690A>T
c.*1068A>T (n.*1068A>T)
c.1397A>T
c.2584A>T (p.Asn862Tyr)
c.2566A>T (p.Asn856Tyr)
c.2305A>T (p.Asn769Tyr)
c.649A>T
c.2716A>T (p.Asn906Tyr)
c.2698A>T (p.Asn900Tyr)
c.2377A>T (p.Asn793Tyr)
c.2245A>T (p.Asn749Tyr)
c.2242A>T (p.Asn748Tyr)
c.2326A>T (p.Asn776Tyr)
c.2257A>T (p.Asn753Tyr)
c.1240A>T (p.Asn414Tyr)
12g.55693269T>CCA385181744ITGA7c.*2208A>G (n.*2208A>G)
c.1255A>G
n.1999A>G
c.2110A>G (p.Asn704Asp)
c.2596A>G (p.Asn866Asp)
c.*2295A>G (n.*2295A>G)
n.690A>G
c.*1068A>G (n.*1068A>G)
c.1397A>G
c.2584A>G (p.Asn862Asp)
c.2566A>G (p.Asn856Asp)
c.2305A>G (p.Asn769Asp)
c.649A>G
c.2716A>G (p.Asn906Asp)
c.2698A>G (p.Asn900Asp)
c.2377A>G (p.Asn793Asp)
c.2245A>G (p.Asn749Asp)
c.2242A>G (p.Asn748Asp)
c.2326A>G (p.Asn776Asp)
c.2257A>G (p.Asn753Asp)
c.1240A>G (p.Asn414Asp)
12g.55693269T>GCA385181745ITGA7c.*2208A>C (n.*2208A>C)
c.1255A>C
n.1999A>C
c.2110A>C (p.Asn704His)
c.2596A>C (p.Asn866His)
c.*2295A>C (n.*2295A>C)
n.690A>C
c.*1068A>C (n.*1068A>C)
c.1397A>C
c.2584A>C (p.Asn862His)
c.2566A>C (p.Asn856His)
c.2305A>C (p.Asn769His)
c.649A>C
c.2716A>C (p.Asn906His)
c.2698A>C (p.Asn900His)
c.2377A>C (p.Asn793His)
c.2245A>C (p.Asn749His)
c.2242A>C (p.Asn748His)
c.2326A>C (p.Asn776His)
c.2257A>C (p.Asn753His)
c.1240A>C (p.Asn414His)
 dbSNP gnomAD v2 gnomAD v4
12g.55693269T=CA2038035967ITGA7c.*2208A= (n.*2208A=)
c.1255A=
n.1999A=
c.2110A= (p.Asn704=)
c.2596A= (p.Asn866=)
c.*2295A= (n.*2295A=)
n.690A=
c.*1068A= (n.*1068A=)
c.1397A=
c.2584A= (p.Asn862=)
c.2566A= (p.Asn856=)
c.2305A= (p.Asn769=)
c.649A=
c.2716A= (p.Asn906=)
c.2698A= (p.Asn900=)
c.2377A= (p.Asn793=)
c.2245A= (p.Asn749=)
c.2242A= (p.Asn748=)
c.2326A= (p.Asn776=)
c.2257A= (p.Asn753=)
c.1240A= (p.Asn414=)
12g.55693270G>ACA480145537ITGA7c.*2207C>T (n.*2207C>T)
c.1254C>T
n.1998C>T
c.2109C>T (p.Leu703=)
c.2595C>T (p.Leu865=)
c.*2294C>T (n.*2294C>T)
n.689C>T
c.*1067C>T (n.*1067C>T)
c.1396C>T
c.2583C>T (p.Leu861=)
c.2565C>T (p.Leu855=)
c.2304C>T (p.Leu768=)
c.648C>T
c.2715C>T (p.Leu905=)
c.2697C>T (p.Leu899=)
c.2376C>T (p.Leu792=)
c.2244C>T (p.Leu748=)
c.2241C>T (p.Leu747=)
c.2325C>T (p.Leu775=)
c.2256C>T (p.Leu752=)
c.1239C>T (p.Leu413=)
12g.55693270G>CCA480145539ITGA7c.*2207C>G (n.*2207C>G)
c.1254C>G
n.1998C>G
c.2109C>G (p.Leu703=)
c.2595C>G (p.Leu865=)
c.*2294C>G (n.*2294C>G)
n.689C>G
c.*1067C>G (n.*1067C>G)
c.1396C>G
c.2583C>G (p.Leu861=)
c.2565C>G (p.Leu855=)
c.2304C>G (p.Leu768=)
c.648C>G
c.2715C>G (p.Leu905=)
c.2697C>G (p.Leu899=)
c.2376C>G (p.Leu792=)
c.2244C>G (p.Leu748=)
c.2241C>G (p.Leu747=)
c.2325C>G (p.Leu775=)
c.2256C>G (p.Leu752=)
c.1239C>G (p.Leu413=)
12g.55693270G>TCA480145541ITGA7c.*2207C>A (n.*2207C>A)
c.1254C>A
n.1998C>A
c.2109C>A (p.Leu703=)
c.2595C>A (p.Leu865=)
c.*2294C>A (n.*2294C>A)
n.689C>A
c.*1067C>A (n.*1067C>A)
c.1396C>A
c.2583C>A (p.Leu861=)
c.2565C>A (p.Leu855=)
c.2304C>A (p.Leu768=)
c.648C>A
c.2715C>A (p.Leu905=)
c.2697C>A (p.Leu899=)
c.2376C>A (p.Leu792=)
c.2244C>A (p.Leu748=)
c.2241C>A (p.Leu747=)
c.2325C>A (p.Leu775=)
c.2256C>A (p.Leu752=)
c.1239C>A (p.Leu413=)
12g.55693270_55693271delinsGACA2038035970ITGA7c.*2206_*2207delinsTC (n.*2206_*2207delinsTC)
c.1253_1254delinsTC
n.1997_1998delinsTC
c.2108_2109delinsTC (p.Leu703=)
c.2594_2595delinsTC (p.Leu865=)
c.*2293_*2294delinsTC (n.*2293_*2294delinsTC)
n.688_689delinsTC
c.*1066_*1067delinsTC (n.*1066_*1067delinsTC)
c.1395_1396delinsTC
c.2582_2583delinsTC (p.Leu861=)
c.2564_2565delinsTC (p.Leu855=)
c.2303_2304delinsTC (p.Leu768=)
c.647_648delinsTC
c.2714_2715delinsTC (p.Leu905=)
c.2696_2697delinsTC (p.Leu899=)
c.2375_2376delinsTC (p.Leu792=)
c.2243_2244delinsTC (p.Leu748=)
c.2240_2241delinsTC (p.Leu747=)
c.2324_2325delinsTC (p.Leu775=)
c.2255_2256delinsTC (p.Leu752=)
c.1238_1239delinsTC (p.Leu413=)
12g.55693271delCA2038035980ITGA7c.*2206del (n.*2206del)
c.1253del
n.1997del
c.2108del (p.Leu703ProfsTer?)
c.2594del (p.Leu865ProfsTer?)
c.*2293del (n.*2293del)
n.688del
c.*1066del (n.*1066del)
c.1395del
c.2582del (p.Leu861ProfsTer?)
c.2564del (p.Leu855ProfsTer?)
c.2303del (p.Leu768ProfsTer?)
c.647del
c.2714del (p.Leu905ProfsTer?)
c.2696del (p.Leu899ProfsTer?)
c.2375del (p.Leu792ProfsTer?)
c.2243del (p.Leu748ProfsTer?)
c.2240del (p.Leu747ProfsTer?)
c.2324del (p.Leu775ProfsTer?)
c.2255del (p.Leu752ProfsTer?)
c.1238del (p.Leu413ProfsTer?)
 dbSNP
12g.55693271A>CCA385181748ITGA7c.*2206T>G (n.*2206T>G)
c.1253T>G
n.1997T>G
c.2108T>G (p.Leu703Arg)
c.2594T>G (p.Leu865Arg)
c.*2293T>G (n.*2293T>G)
n.688T>G
c.*1066T>G (n.*1066T>G)
c.1395T>G
c.2582T>G (p.Leu861Arg)
c.2564T>G (p.Leu855Arg)
c.2303T>G (p.Leu768Arg)
c.647T>G
c.2714T>G (p.Leu905Arg)
c.2696T>G (p.Leu899Arg)
c.2375T>G (p.Leu792Arg)
c.2243T>G (p.Leu748Arg)
c.2240T>G (p.Leu747Arg)
c.2324T>G (p.Leu775Arg)
c.2255T>G (p.Leu752Arg)
c.1238T>G (p.Leu413Arg)
12g.55693271A>GCA385181746ITGA7c.*2206T>C (n.*2206T>C)
c.1253T>C
n.1997T>C
c.2108T>C (p.Leu703Pro)
c.2594T>C (p.Leu865Pro)
c.*2293T>C (n.*2293T>C)
n.688T>C
c.*1066T>C (n.*1066T>C)
c.1395T>C
c.2582T>C (p.Leu861Pro)
c.2564T>C (p.Leu855Pro)
c.2303T>C (p.Leu768Pro)
c.647T>C
c.2714T>C (p.Leu905Pro)
c.2696T>C (p.Leu899Pro)
c.2375T>C (p.Leu792Pro)
c.2243T>C (p.Leu748Pro)
c.2240T>C (p.Leu747Pro)
c.2324T>C (p.Leu775Pro)
c.2255T>C (p.Leu752Pro)
c.1238T>C (p.Leu413Pro)
12g.55693271A>TCA385181747ITGA7c.*2206T>A (n.*2206T>A)
c.1253T>A
n.1997T>A
c.2108T>A (p.Leu703His)
c.2594T>A (p.Leu865His)
c.*2293T>A (n.*2293T>A)
n.688T>A
c.*1066T>A (n.*1066T>A)
c.1395T>A
c.2582T>A (p.Leu861His)
c.2564T>A (p.Leu855His)
c.2303T>A (p.Leu768His)
c.647T>A
c.2714T>A (p.Leu905His)
c.2696T>A (p.Leu899His)
c.2375T>A (p.Leu792His)
c.2243T>A (p.Leu748His)
c.2240T>A (p.Leu747His)
c.2324T>A (p.Leu775His)
c.2255T>A (p.Leu752His)
c.1238T>A (p.Leu413His)
12g.55693272G>ACA385181749ITGA7c.*2205C>T (n.*2205C>T)
c.1252C>T
n.1996C>T
c.2107C>T (p.Leu703Phe)
c.2593C>T (p.Leu865Phe)
c.*2292C>T (n.*2292C>T)
n.687C>T
c.*1065C>T (n.*1065C>T)
c.1394C>T
c.2581C>T (p.Leu861Phe)
c.2563C>T (p.Leu855Phe)
c.2302C>T (p.Leu768Phe)
c.646C>T
c.2713C>T (p.Leu905Phe)
c.2695C>T (p.Leu899Phe)
c.2374C>T (p.Leu792Phe)
c.2242C>T (p.Leu748Phe)
c.2239C>T (p.Leu747Phe)
c.2323C>T (p.Leu775Phe)
c.2254C>T (p.Leu752Phe)
c.1237C>T (p.Leu413Phe)
12g.55693272G>CCA385181750ITGA7c.*2205C>G (n.*2205C>G)
c.1252C>G
n.1996C>G
c.2107C>G (p.Leu703Val)
c.2593C>G (p.Leu865Val)
c.*2292C>G (n.*2292C>G)
n.687C>G
c.*1065C>G (n.*1065C>G)
c.1394C>G
c.2581C>G (p.Leu861Val)
c.2563C>G (p.Leu855Val)
c.2302C>G (p.Leu768Val)
c.646C>G
c.2713C>G (p.Leu905Val)
c.2695C>G (p.Leu899Val)
c.2374C>G (p.Leu792Val)
c.2242C>G (p.Leu748Val)
c.2239C>G (p.Leu747Val)
c.2323C>G (p.Leu775Val)
c.2254C>G (p.Leu752Val)
c.1237C>G (p.Leu413Val)
12g.55693272G>TCA385181751ITGA7c.*2205C>A (n.*2205C>A)
c.1252C>A
n.1996C>A
c.2107C>A (p.Leu703Ile)
c.2593C>A (p.Leu865Ile)
c.*2292C>A (n.*2292C>A)
n.687C>A
c.*1065C>A (n.*1065C>A)
c.1394C>A
c.2581C>A (p.Leu861Ile)
c.2563C>A (p.Leu855Ile)
c.2302C>A (p.Leu768Ile)
c.646C>A
c.2713C>A (p.Leu905Ile)
c.2695C>A (p.Leu899Ile)
c.2374C>A (p.Leu792Ile)
c.2242C>A (p.Leu748Ile)
c.2239C>A (p.Leu747Ile)
c.2323C>A (p.Leu775Ile)
c.2254C>A (p.Leu752Ile)
c.1237C>A (p.Leu413Ile)
12g.55693273G>ACA6615527ITGA7c.*2204C>T (n.*2204C>T)
c.1251C>T
n.1995C>T
c.2106C>T (p.Phe702=)
c.2592C>T (p.Phe864=)
c.*2291C>T (n.*2291C>T)
n.686C>T
c.*1064C>T (n.*1064C>T)
c.1393C>T
c.2580C>T (p.Phe860=)
c.2562C>T (p.Phe854=)
c.2301C>T (p.Phe767=)
c.645C>T
c.2712C>T (p.Phe904=)
c.2694C>T (p.Phe898=)
c.2373C>T (p.Phe791=)
c.2241C>T (p.Phe747=)
c.2238C>T (p.Phe746=)
c.2322C>T (p.Phe774=)
c.2253C>T (p.Phe751=)
c.1236C>T (p.Phe412=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693273G>CCA6615528ITGA7c.*2204C>G (n.*2204C>G)
c.1251C>G
n.1995C>G
c.2106C>G (p.Phe702Leu)
c.2592C>G (p.Phe864Leu)
c.*2291C>G (n.*2291C>G)
n.686C>G
c.*1064C>G (n.*1064C>G)
c.1393C>G
c.2580C>G (p.Phe860Leu)
c.2562C>G (p.Phe854Leu)
c.2301C>G (p.Phe767Leu)
c.645C>G
c.2712C>G (p.Phe904Leu)
c.2694C>G (p.Phe898Leu)
c.2373C>G (p.Phe791Leu)
c.2241C>G (p.Phe747Leu)
c.2238C>G (p.Phe746Leu)
c.2322C>G (p.Phe774Leu)
c.2253C>G (p.Phe751Leu)
c.1236C>G (p.Phe412Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693273G=CA2038035990ITGA7c.*2204C= (n.*2204C=)
c.1251C=
n.1995C=
c.2106C= (p.Phe702=)
c.2592C= (p.Phe864=)
c.*2291C= (n.*2291C=)
n.686C=
c.*1064C= (n.*1064C=)
c.1393C=
c.2580C= (p.Phe860=)
c.2562C= (p.Phe854=)
c.2301C= (p.Phe767=)
c.645C=
c.2712C= (p.Phe904=)
c.2694C= (p.Phe898=)
c.2373C= (p.Phe791=)
c.2241C= (p.Phe747=)
c.2238C= (p.Phe746=)
c.2322C= (p.Phe774=)
c.2253C= (p.Phe751=)
c.1236C= (p.Phe412=)
12g.55693273G>TCA385181752ITGA7c.*2204C>A (n.*2204C>A)
c.1251C>A
n.1995C>A
c.2106C>A (p.Phe702Leu)
c.2592C>A (p.Phe864Leu)
c.*2291C>A (n.*2291C>A)
n.686C>A
c.*1064C>A (n.*1064C>A)
c.1393C>A
c.2580C>A (p.Phe860Leu)
c.2562C>A (p.Phe854Leu)
c.2301C>A (p.Phe767Leu)
c.645C>A
c.2712C>A (p.Phe904Leu)
c.2694C>A (p.Phe898Leu)
c.2373C>A (p.Phe791Leu)
c.2241C>A (p.Phe747Leu)
c.2238C>A (p.Phe746Leu)
c.2322C>A (p.Phe774Leu)
c.2253C>A (p.Phe751Leu)
c.1236C>A (p.Phe412Leu)
 COSMIC COSMIC COSMIC COSMIC
12g.55693274A>CCA385181755ITGA7c.*2203T>G (n.*2203T>G)
c.1250T>G
n.1994T>G
c.2105T>G (p.Phe702Cys)
c.2591T>G (p.Phe864Cys)
c.*2290T>G (n.*2290T>G)
n.685T>G
c.*1063T>G (n.*1063T>G)
c.1392T>G
c.2579T>G (p.Phe860Cys)
c.2561T>G (p.Phe854Cys)
c.2300T>G (p.Phe767Cys)
c.644T>G
c.2711T>G (p.Phe904Cys)
c.2693T>G (p.Phe898Cys)
c.2372T>G (p.Phe791Cys)
c.2240T>G (p.Phe747Cys)
c.2237T>G (p.Phe746Cys)
c.2321T>G (p.Phe774Cys)
c.2252T>G (p.Phe751Cys)
c.1235T>G (p.Phe412Cys)
 gnomAD v4
12g.55693274A>GCA385181754ITGA7c.*2203T>C (n.*2203T>C)
c.1250T>C
n.1994T>C
c.2105T>C (p.Phe702Ser)
c.2591T>C (p.Phe864Ser)
c.*2290T>C (n.*2290T>C)
n.685T>C
c.*1063T>C (n.*1063T>C)
c.1392T>C
c.2579T>C (p.Phe860Ser)
c.2561T>C (p.Phe854Ser)
c.2300T>C (p.Phe767Ser)
c.644T>C
c.2711T>C (p.Phe904Ser)
c.2693T>C (p.Phe898Ser)
c.2372T>C (p.Phe791Ser)
c.2240T>C (p.Phe747Ser)
c.2237T>C (p.Phe746Ser)
c.2321T>C (p.Phe774Ser)
c.2252T>C (p.Phe751Ser)
c.1235T>C (p.Phe412Ser)
12g.55693274A>TCA385181753ITGA7c.*2203T>A (n.*2203T>A)
c.1250T>A
n.1994T>A
c.2105T>A (p.Phe702Tyr)
c.2591T>A (p.Phe864Tyr)
c.*2290T>A (n.*2290T>A)
n.685T>A
c.*1063T>A (n.*1063T>A)
c.1392T>A
c.2579T>A (p.Phe860Tyr)
c.2561T>A (p.Phe854Tyr)
c.2300T>A (p.Phe767Tyr)
c.644T>A
c.2711T>A (p.Phe904Tyr)
c.2693T>A (p.Phe898Tyr)
c.2372T>A (p.Phe791Tyr)
c.2240T>A (p.Phe747Tyr)
c.2237T>A (p.Phe746Tyr)
c.2321T>A (p.Phe774Tyr)
c.2252T>A (p.Phe751Tyr)
c.1235T>A (p.Phe412Tyr)
12g.55693275A>CCA385181756ITGA7c.*2202T>G (n.*2202T>G)
c.1249T>G
n.1993T>G
c.2104T>G (p.Phe702Val)
c.2590T>G (p.Phe864Val)
c.*2289T>G (n.*2289T>G)
n.684T>G
c.*1062T>G (n.*1062T>G)
c.1391T>G
c.2578T>G (p.Phe860Val)
c.2560T>G (p.Phe854Val)
c.2299T>G (p.Phe767Val)
c.643T>G
c.2710T>G (p.Phe904Val)
c.2692T>G (p.Phe898Val)
c.2371T>G (p.Phe791Val)
c.2239T>G (p.Phe747Val)
c.2236T>G (p.Phe746Val)
c.2320T>G (p.Phe774Val)
c.2251T>G (p.Phe751Val)
c.1234T>G (p.Phe412Val)
12g.55693275A>GCA385181757ITGA7c.*2202T>C (n.*2202T>C)
c.1249T>C
n.1993T>C
c.2104T>C (p.Phe702Leu)
c.2590T>C (p.Phe864Leu)
c.*2289T>C (n.*2289T>C)
n.684T>C
c.*1062T>C (n.*1062T>C)
c.1391T>C
c.2578T>C (p.Phe860Leu)
c.2560T>C (p.Phe854Leu)
c.2299T>C (p.Phe767Leu)
c.643T>C
c.2710T>C (p.Phe904Leu)
c.2692T>C (p.Phe898Leu)
c.2371T>C (p.Phe791Leu)
c.2239T>C (p.Phe747Leu)
c.2236T>C (p.Phe746Leu)
c.2320T>C (p.Phe774Leu)
c.2251T>C (p.Phe751Leu)
c.1234T>C (p.Phe412Leu)
12g.55693275A>TCA385181758ITGA7c.*2202T>A (n.*2202T>A)
c.1249T>A
n.1993T>A
c.2104T>A (p.Phe702Ile)
c.2590T>A (p.Phe864Ile)
c.*2289T>A (n.*2289T>A)
n.684T>A
c.*1062T>A (n.*1062T>A)
c.1391T>A
c.2578T>A (p.Phe860Ile)
c.2560T>A (p.Phe854Ile)
c.2299T>A (p.Phe767Ile)
c.643T>A
c.2710T>A (p.Phe904Ile)
c.2692T>A (p.Phe898Ile)
c.2371T>A (p.Phe791Ile)
c.2239T>A (p.Phe747Ile)
c.2236T>A (p.Phe746Ile)
c.2320T>A (p.Phe774Ile)
c.2251T>A (p.Phe751Ile)
c.1234T>A (p.Phe412Ile)
12g.55693276G>ACA480145556ITGA7c.*2201C>T (n.*2201C>T)
c.1248C>T
n.1992C>T
c.2103C>T (p.Ala701=)
c.2589C>T (p.Ala863=)
c.*2288C>T (n.*2288C>T)
n.683C>T
c.*1061C>T (n.*1061C>T)
c.1390C>T
c.2577C>T (p.Ala859=)
c.2559C>T (p.Ala853=)
c.2298C>T (p.Ala766=)
c.642C>T
c.2709C>T (p.Ala903=)
c.2691C>T (p.Ala897=)
c.2370C>T (p.Ala790=)
c.2238C>T (p.Ala746=)
c.2235C>T (p.Ala745=)
c.2319C>T (p.Ala773=)
c.2250C>T (p.Ala750=)
c.1233C>T (p.Ala411=)
12g.55693276G>CCA480145557ITGA7c.*2201C>G (n.*2201C>G)
c.1248C>G
n.1992C>G
c.2103C>G (p.Ala701=)
c.2589C>G (p.Ala863=)
c.*2288C>G (n.*2288C>G)
n.683C>G
c.*1061C>G (n.*1061C>G)
c.1390C>G
c.2577C>G (p.Ala859=)
c.2559C>G (p.Ala853=)
c.2298C>G (p.Ala766=)
c.642C>G
c.2709C>G (p.Ala903=)
c.2691C>G (p.Ala897=)
c.2370C>G (p.Ala790=)
c.2238C>G (p.Ala746=)
c.2235C>G (p.Ala745=)
c.2319C>G (p.Ala773=)
c.2250C>G (p.Ala750=)
c.1233C>G (p.Ala411=)
12g.55693276G>TCA480145559ITGA7c.*2201C>A (n.*2201C>A)
c.1248C>A
n.1992C>A
c.2103C>A (p.Ala701=)
c.2589C>A (p.Ala863=)
c.*2288C>A (n.*2288C>A)
n.683C>A
c.*1061C>A (n.*1061C>A)
c.1390C>A
c.2577C>A (p.Ala859=)
c.2559C>A (p.Ala853=)
c.2298C>A (p.Ala766=)
c.642C>A
c.2709C>A (p.Ala903=)
c.2691C>A (p.Ala897=)
c.2370C>A (p.Ala790=)
c.2238C>A (p.Ala746=)
c.2235C>A (p.Ala745=)
c.2319C>A (p.Ala773=)
c.2250C>A (p.Ala750=)
c.1233C>A (p.Ala411=)
12g.55693277G>ACA6615529ITGA7c.*2200C>T (n.*2200C>T)
c.1247C>T
n.1991C>T
c.2102C>T (p.Ala701Val)
c.2588C>T (p.Ala863Val)
c.*2287C>T (n.*2287C>T)
n.682C>T
c.*1060C>T (n.*1060C>T)
c.1389C>T
c.2576C>T (p.Ala859Val)
c.2558C>T (p.Ala853Val)
c.2297C>T (p.Ala766Val)
c.641C>T
c.2708C>T (p.Ala903Val)
c.2690C>T (p.Ala897Val)
c.2369C>T (p.Ala790Val)
c.2237C>T (p.Ala746Val)
c.2234C>T (p.Ala745Val)
c.2318C>T (p.Ala773Val)
c.2249C>T (p.Ala750Val)
c.1232C>T (p.Ala411Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693277G>CCA385181759ITGA7c.*2200C>G (n.*2200C>G)
c.1247C>G
n.1991C>G
c.2102C>G (p.Ala701Gly)
c.2588C>G (p.Ala863Gly)
c.*2287C>G (n.*2287C>G)
n.682C>G
c.*1060C>G (n.*1060C>G)
c.1389C>G
c.2576C>G (p.Ala859Gly)
c.2558C>G (p.Ala853Gly)
c.2297C>G (p.Ala766Gly)
c.641C>G
c.2708C>G (p.Ala903Gly)
c.2690C>G (p.Ala897Gly)
c.2369C>G (p.Ala790Gly)
c.2237C>G (p.Ala746Gly)
c.2234C>G (p.Ala745Gly)
c.2318C>G (p.Ala773Gly)
c.2249C>G (p.Ala750Gly)
c.1232C>G (p.Ala411Gly)
12g.55693277G=CA2038035993ITGA7c.*2200C= (n.*2200C=)
c.1247C=
n.1991C=
c.2102C= (p.Ala701=)
c.2588C= (p.Ala863=)
c.*2287C= (n.*2287C=)
n.682C=
c.*1060C= (n.*1060C=)
c.1389C=
c.2576C= (p.Ala859=)
c.2558C= (p.Ala853=)
c.2297C= (p.Ala766=)
c.641C=
c.2708C= (p.Ala903=)
c.2690C= (p.Ala897=)
c.2369C= (p.Ala790=)
c.2237C= (p.Ala746=)
c.2234C= (p.Ala745=)
c.2318C= (p.Ala773=)
c.2249C= (p.Ala750=)
c.1232C= (p.Ala411=)
12g.55693277G>TCA385181760ITGA7c.*2200C>A (n.*2200C>A)
c.1247C>A
n.1991C>A
c.2102C>A (p.Ala701Asp)
c.2588C>A (p.Ala863Asp)
c.*2287C>A (n.*2287C>A)
n.682C>A
c.*1060C>A (n.*1060C>A)
c.1389C>A
c.2576C>A (p.Ala859Asp)
c.2558C>A (p.Ala853Asp)
c.2297C>A (p.Ala766Asp)
c.641C>A
c.2708C>A (p.Ala903Asp)
c.2690C>A (p.Ala897Asp)
c.2369C>A (p.Ala790Asp)
c.2237C>A (p.Ala746Asp)
c.2234C>A (p.Ala745Asp)
c.2318C>A (p.Ala773Asp)
c.2249C>A (p.Ala750Asp)
c.1232C>A (p.Ala411Asp)
12g.55693278C>ACA385181761ITGA7c.*2199G>T (n.*2199G>T)
c.1246G>T
n.1990G>T
c.2101G>T (p.Ala701Ser)
c.2587G>T (p.Ala863Ser)
c.*2286G>T (n.*2286G>T)
n.681G>T
c.*1059G>T (n.*1059G>T)
c.1388G>T
c.2575G>T (p.Ala859Ser)
c.2557G>T (p.Ala853Ser)
c.2296G>T (p.Ala766Ser)
c.640G>T
c.2707G>T (p.Ala903Ser)
c.2689G>T (p.Ala897Ser)
c.2368G>T (p.Ala790Ser)
c.2236G>T (p.Ala746Ser)
c.2233G>T (p.Ala745Ser)
c.2317G>T (p.Ala773Ser)
c.2248G>T (p.Ala750Ser)
c.1231G>T (p.Ala411Ser)
12g.55693278C>GCA385181763ITGA7c.*2199G>C (n.*2199G>C)
c.1246G>C
n.1990G>C
c.2101G>C (p.Ala701Pro)
c.2587G>C (p.Ala863Pro)
c.*2286G>C (n.*2286G>C)
n.681G>C
c.*1059G>C (n.*1059G>C)
c.1388G>C
c.2575G>C (p.Ala859Pro)
c.2557G>C (p.Ala853Pro)
c.2296G>C (p.Ala766Pro)
c.640G>C
c.2707G>C (p.Ala903Pro)
c.2689G>C (p.Ala897Pro)
c.2368G>C (p.Ala790Pro)
c.2236G>C (p.Ala746Pro)
c.2233G>C (p.Ala745Pro)
c.2317G>C (p.Ala773Pro)
c.2248G>C (p.Ala750Pro)
c.1231G>C (p.Ala411Pro)
12g.55693278C>TCA385181762ITGA7c.*2199G>A (n.*2199G>A)
c.1246G>A
n.1990G>A
c.2101G>A (p.Ala701Thr)
c.2587G>A (p.Ala863Thr)
c.*2286G>A (n.*2286G>A)
n.681G>A
c.*1059G>A (n.*1059G>A)
c.1388G>A
c.2575G>A (p.Ala859Thr)
c.2557G>A (p.Ala853Thr)
c.2296G>A (p.Ala766Thr)
c.640G>A
c.2707G>A (p.Ala903Thr)
c.2689G>A (p.Ala897Thr)
c.2368G>A (p.Ala790Thr)
c.2236G>A (p.Ala746Thr)
c.2233G>A (p.Ala745Thr)
c.2317G>A (p.Ala773Thr)
c.2248G>A (p.Ala750Thr)
c.1231G>A (p.Ala411Thr)
12g.55693279A>CCA480145566ITGA7c.*2198T>G (n.*2198T>G)
c.1245T>G
n.1989T>G
c.2100T>G (p.Ser700=)
c.2586T>G (p.Ser862=)
c.*2285T>G (n.*2285T>G)
n.680T>G
c.*1058T>G (n.*1058T>G)
c.1387T>G
c.2574T>G (p.Ser858=)
c.2556T>G (p.Ser852=)
c.2295T>G (p.Ser765=)
c.639T>G
c.2706T>G (p.Ser902=)
c.2688T>G (p.Ser896=)
c.2367T>G (p.Ser789=)
c.2235T>G (p.Ser745=)
c.2232T>G (p.Ser744=)
c.2316T>G (p.Ser772=)
c.2247T>G (p.Ser749=)
c.1230T>G (p.Ser410=)
12g.55693279A>GCA480145568ITGA7c.*2198T>C (n.*2198T>C)
c.1245T>C
n.1989T>C
c.2100T>C (p.Ser700=)
c.2586T>C (p.Ser862=)
c.*2285T>C (n.*2285T>C)
n.680T>C
c.*1058T>C (n.*1058T>C)
c.1387T>C
c.2574T>C (p.Ser858=)
c.2556T>C (p.Ser852=)
c.2295T>C (p.Ser765=)
c.639T>C
c.2706T>C (p.Ser902=)
c.2688T>C (p.Ser896=)
c.2367T>C (p.Ser789=)
c.2235T>C (p.Ser745=)
c.2232T>C (p.Ser744=)
c.2316T>C (p.Ser772=)
c.2247T>C (p.Ser749=)
c.1230T>C (p.Ser410=)
12g.55693279A>TCA480145569ITGA7c.*2198T>A (n.*2198T>A)
c.1245T>A
n.1989T>A
c.2100T>A (p.Ser700=)
c.2586T>A (p.Ser862=)
c.*2285T>A (n.*2285T>A)
n.680T>A
c.*1058T>A (n.*1058T>A)
c.1387T>A
c.2574T>A (p.Ser858=)
c.2556T>A (p.Ser852=)
c.2295T>A (p.Ser765=)
c.639T>A
c.2706T>A (p.Ser902=)
c.2688T>A (p.Ser896=)
c.2367T>A (p.Ser789=)
c.2235T>A (p.Ser745=)
c.2232T>A (p.Ser744=)
c.2316T>A (p.Ser772=)
c.2247T>A (p.Ser749=)
c.1230T>A (p.Ser410=)
12g.55693280delCA2619199425ITGA7c.*2197del (n.*2197del)
c.1244del
n.1988del
c.2099del (p.Ser700LeufsTer?)
c.2585del (p.Ser862LeufsTer?)
c.*2284del (n.*2284del)
n.679del
c.*1057del (n.*1057del)
c.1386del
c.2573del (p.Ser858LeufsTer?)
c.2555del (p.Ser852LeufsTer?)
c.2294del (p.Ser765LeufsTer?)
c.638del
c.2705del (p.Ser902LeufsTer?)
c.2687del (p.Ser896LeufsTer?)
c.2366del (p.Ser789LeufsTer?)
c.2234del (p.Ser745LeufsTer?)
c.2231del (p.Ser744LeufsTer?)
c.2315del (p.Ser772LeufsTer?)
c.2246del (p.Ser749LeufsTer?)
c.1229del (p.Ser410LeufsTer?)
 gnomAD v4
12g.55693280G>ACA385181764ITGA7c.*2197C>T (n.*2197C>T)
c.1244C>T
n.1988C>T
c.2099C>T (p.Ser700Phe)
c.2585C>T (p.Ser862Phe)
c.*2284C>T (n.*2284C>T)
n.679C>T
c.*1057C>T (n.*1057C>T)
c.1386C>T
c.2573C>T (p.Ser858Phe)
c.2555C>T (p.Ser852Phe)
c.2294C>T (p.Ser765Phe)
c.638C>T
c.2705C>T (p.Ser902Phe)
c.2687C>T (p.Ser896Phe)
c.2366C>T (p.Ser789Phe)
c.2234C>T (p.Ser745Phe)
c.2231C>T (p.Ser744Phe)
c.2315C>T (p.Ser772Phe)
c.2246C>T (p.Ser749Phe)
c.1229C>T (p.Ser410Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693280G>CCA385181765ITGA7c.*2197C>G (n.*2197C>G)
c.1244C>G
n.1988C>G
c.2099C>G (p.Ser700Cys)
c.2585C>G (p.Ser862Cys)
c.*2284C>G (n.*2284C>G)
n.679C>G
c.*1057C>G (n.*1057C>G)
c.1386C>G
c.2573C>G (p.Ser858Cys)
c.2555C>G (p.Ser852Cys)
c.2294C>G (p.Ser765Cys)
c.638C>G
c.2705C>G (p.Ser902Cys)
c.2687C>G (p.Ser896Cys)
c.2366C>G (p.Ser789Cys)
c.2234C>G (p.Ser745Cys)
c.2231C>G (p.Ser744Cys)
c.2315C>G (p.Ser772Cys)
c.2246C>G (p.Ser749Cys)
c.1229C>G (p.Ser410Cys)
12g.55693280G>TCA385181766ITGA7c.*2197C>A (n.*2197C>A)
c.1244C>A
n.1988C>A
c.2099C>A (p.Ser700Tyr)
c.2585C>A (p.Ser862Tyr)
c.*2284C>A (n.*2284C>A)
n.679C>A
c.*1057C>A (n.*1057C>A)
c.1386C>A
c.2573C>A (p.Ser858Tyr)
c.2555C>A (p.Ser852Tyr)
c.2294C>A (p.Ser765Tyr)
c.638C>A
c.2705C>A (p.Ser902Tyr)
c.2687C>A (p.Ser896Tyr)
c.2366C>A (p.Ser789Tyr)
c.2234C>A (p.Ser745Tyr)
c.2231C>A (p.Ser744Tyr)
c.2315C>A (p.Ser772Tyr)
c.2246C>A (p.Ser749Tyr)
c.1229C>A (p.Ser410Tyr)
12g.55693281A>CCA385181767ITGA7c.*2196T>G (n.*2196T>G)
c.1243T>G
n.1987T>G
c.2098T>G (p.Ser700Ala)
c.2584T>G (p.Ser862Ala)
c.*2283T>G (n.*2283T>G)
n.678T>G
c.*1056T>G (n.*1056T>G)
c.1385T>G
c.2572T>G (p.Ser858Ala)
c.2554T>G (p.Ser852Ala)
c.2293T>G (p.Ser765Ala)
c.637T>G
c.2704T>G (p.Ser902Ala)
c.2686T>G (p.Ser896Ala)
c.2365T>G (p.Ser789Ala)
c.2233T>G (p.Ser745Ala)
c.2230T>G (p.Ser744Ala)
c.2314T>G (p.Ser772Ala)
c.2245T>G (p.Ser749Ala)
c.1228T>G (p.Ser410Ala)
12g.55693281A>GCA385181768ITGA7c.*2196T>C (n.*2196T>C)
c.1243T>C
n.1987T>C
c.2098T>C (p.Ser700Pro)
c.2584T>C (p.Ser862Pro)
c.*2283T>C (n.*2283T>C)
n.678T>C
c.*1056T>C (n.*1056T>C)
c.1385T>C
c.2572T>C (p.Ser858Pro)
c.2554T>C (p.Ser852Pro)
c.2293T>C (p.Ser765Pro)
c.637T>C
c.2704T>C (p.Ser902Pro)
c.2686T>C (p.Ser896Pro)
c.2365T>C (p.Ser789Pro)
c.2233T>C (p.Ser745Pro)
c.2230T>C (p.Ser744Pro)
c.2314T>C (p.Ser772Pro)
c.2245T>C (p.Ser749Pro)
c.1228T>C (p.Ser410Pro)
12g.55693281A>TCA385181769ITGA7c.*2196T>A (n.*2196T>A)
c.1243T>A
n.1987T>A
c.2098T>A (p.Ser700Thr)
c.2584T>A (p.Ser862Thr)
c.*2283T>A (n.*2283T>A)
n.678T>A
c.*1056T>A (n.*1056T>A)
c.1385T>A
c.2572T>A (p.Ser858Thr)
c.2554T>A (p.Ser852Thr)
c.2293T>A (p.Ser765Thr)
c.637T>A
c.2704T>A (p.Ser902Thr)
c.2686T>A (p.Ser896Thr)
c.2365T>A (p.Ser789Thr)
c.2233T>A (p.Ser745Thr)
c.2230T>A (p.Ser744Thr)
c.2314T>A (p.Ser772Thr)
c.2245T>A (p.Ser749Thr)
c.1228T>A (p.Ser410Thr)
12g.55693282G>ACA480145577ITGA7c.*2195C>T (n.*2195C>T)
c.1242C>T
n.1986C>T
c.2097C>T (p.Gly699=)
c.2583C>T (p.Gly861=)
c.*2282C>T (n.*2282C>T)
n.677C>T
c.*1055C>T (n.*1055C>T)
c.1384C>T
c.2571C>T (p.Gly857=)
c.2553C>T (p.Gly851=)
c.2292C>T (p.Gly764=)
c.636C>T
c.2703C>T (p.Gly901=)
c.2685C>T (p.Gly895=)
c.2364C>T (p.Gly788=)
c.2232C>T (p.Gly744=)
c.2229C>T (p.Gly743=)
c.2313C>T (p.Gly771=)
c.2244C>T (p.Gly748=)
c.1227C>T (p.Gly409=)
12g.55693282G>CCA480145579ITGA7c.*2195C>G (n.*2195C>G)
c.1242C>G
n.1986C>G
c.2097C>G (p.Gly699=)
c.2583C>G (p.Gly861=)
c.*2282C>G (n.*2282C>G)
n.677C>G
c.*1055C>G (n.*1055C>G)
c.1384C>G
c.2571C>G (p.Gly857=)
c.2553C>G (p.Gly851=)
c.2292C>G (p.Gly764=)
c.636C>G
c.2703C>G (p.Gly901=)
c.2685C>G (p.Gly895=)
c.2364C>G (p.Gly788=)
c.2232C>G (p.Gly744=)
c.2229C>G (p.Gly743=)
c.2313C>G (p.Gly771=)
c.2244C>G (p.Gly748=)
c.1227C>G (p.Gly409=)
 dbSNP gnomAD v2 gnomAD v4
12g.55693282G=CA2038035997ITGA7c.*2195C= (n.*2195C=)
c.1242C=
n.1986C=
c.2097C= (p.Gly699=)
c.2583C= (p.Gly861=)
c.*2282C= (n.*2282C=)
n.677C=
c.*1055C= (n.*1055C=)
c.1384C=
c.2571C= (p.Gly857=)
c.2553C= (p.Gly851=)
c.2292C= (p.Gly764=)
c.636C=
c.2703C= (p.Gly901=)
c.2685C= (p.Gly895=)
c.2364C= (p.Gly788=)
c.2232C= (p.Gly744=)
c.2229C= (p.Gly743=)
c.2313C= (p.Gly771=)
c.2244C= (p.Gly748=)
c.1227C= (p.Gly409=)
12g.55693282G>TCA480145580ITGA7c.*2195C>A (n.*2195C>A)
c.1242C>A
n.1986C>A
c.2097C>A (p.Gly699=)
c.2583C>A (p.Gly861=)
c.*2282C>A (n.*2282C>A)
n.677C>A
c.*1055C>A (n.*1055C>A)
c.1384C>A
c.2571C>A (p.Gly857=)
c.2553C>A (p.Gly851=)
c.2292C>A (p.Gly764=)
c.636C>A
c.2703C>A (p.Gly901=)
c.2685C>A (p.Gly895=)
c.2364C>A (p.Gly788=)
c.2232C>A (p.Gly744=)
c.2229C>A (p.Gly743=)
c.2313C>A (p.Gly771=)
c.2244C>A (p.Gly748=)
c.1227C>A (p.Gly409=)
 ClinVar
12g.55693283C>ACA385181770ITGA7c.*2194G>T (n.*2194G>T)
c.1241G>T
n.1985G>T
c.2096G>T (p.Gly699Val)
c.2582G>T (p.Gly861Val)
c.*2281G>T (n.*2281G>T)
n.676G>T
c.*1054G>T (n.*1054G>T)
c.1383G>T
c.2570G>T (p.Gly857Val)
c.2552G>T (p.Gly851Val)
c.2291G>T (p.Gly764Val)
c.635G>T
c.2702G>T (p.Gly901Val)
c.2684G>T (p.Gly895Val)
c.2363G>T (p.Gly788Val)
c.2231G>T (p.Gly744Val)
c.2228G>T (p.Gly743Val)
c.2312G>T (p.Gly771Val)
c.2243G>T (p.Gly748Val)
c.1226G>T (p.Gly409Val)
12g.55693283C>GCA385181771ITGA7c.*2194G>C (n.*2194G>C)
c.1241G>C
n.1985G>C
c.2096G>C (p.Gly699Ala)
c.2582G>C (p.Gly861Ala)
c.*2281G>C (n.*2281G>C)
n.676G>C
c.*1054G>C (n.*1054G>C)
c.1383G>C
c.2570G>C (p.Gly857Ala)
c.2552G>C (p.Gly851Ala)
c.2291G>C (p.Gly764Ala)
c.635G>C
c.2702G>C (p.Gly901Ala)
c.2684G>C (p.Gly895Ala)
c.2363G>C (p.Gly788Ala)
c.2231G>C (p.Gly744Ala)
c.2228G>C (p.Gly743Ala)
c.2312G>C (p.Gly771Ala)
c.2243G>C (p.Gly748Ala)
c.1226G>C (p.Gly409Ala)
12g.55693283C>TCA385181772ITGA7c.*2194G>A (n.*2194G>A)
c.1241G>A
n.1985G>A
c.2096G>A (p.Gly699Asp)
c.2582G>A (p.Gly861Asp)
c.*2281G>A (n.*2281G>A)
n.676G>A
c.*1054G>A (n.*1054G>A)
c.1383G>A
c.2570G>A (p.Gly857Asp)
c.2552G>A (p.Gly851Asp)
c.2291G>A (p.Gly764Asp)
c.635G>A
c.2702G>A (p.Gly901Asp)
c.2684G>A (p.Gly895Asp)
c.2363G>A (p.Gly788Asp)
c.2231G>A (p.Gly744Asp)
c.2228G>A (p.Gly743Asp)
c.2312G>A (p.Gly771Asp)
c.2243G>A (p.Gly748Asp)
c.1226G>A (p.Gly409Asp)
12g.55693284C>ACA385181773ITGA7c.*2193G>T (n.*2193G>T)
c.1240G>T
n.1984G>T
c.2095G>T (p.Gly699Cys)
c.2581G>T (p.Gly861Cys)
c.*2280G>T (n.*2280G>T)
n.675G>T
c.*1053G>T (n.*1053G>T)
c.1382G>T
c.2569G>T (p.Gly857Cys)
c.2551G>T (p.Gly851Cys)
c.2290G>T (p.Gly764Cys)
c.634G>T
c.2701G>T (p.Gly901Cys)
c.2683G>T (p.Gly895Cys)
c.2362G>T (p.Gly788Cys)
c.2230G>T (p.Gly744Cys)
c.2227G>T (p.Gly743Cys)
c.2311G>T (p.Gly771Cys)
c.2242G>T (p.Gly748Cys)
c.1225G>T (p.Gly409Cys)
12g.55693284C=CA2038036002ITGA7c.*2193G= (n.*2193G=)
c.1240G=
n.1984G=
c.2095G= (p.Gly699=)
c.2581G= (p.Gly861=)
c.*2280G= (n.*2280G=)
n.675G=
c.*1053G= (n.*1053G=)
c.1382G=
c.2569G= (p.Gly857=)
c.2551G= (p.Gly851=)
c.2290G= (p.Gly764=)
c.634G=
c.2701G= (p.Gly901=)
c.2683G= (p.Gly895=)
c.2362G= (p.Gly788=)
c.2230G= (p.Gly744=)
c.2227G= (p.Gly743=)
c.2311G= (p.Gly771=)
c.2242G= (p.Gly748=)
c.1225G= (p.Gly409=)
12g.55693284C>GCA385181774ITGA7c.*2193G>C (n.*2193G>C)
c.1240G>C
n.1984G>C
c.2095G>C (p.Gly699Arg)
c.2581G>C (p.Gly861Arg)
c.*2280G>C (n.*2280G>C)
n.675G>C
c.*1053G>C (n.*1053G>C)
c.1382G>C
c.2569G>C (p.Gly857Arg)
c.2551G>C (p.Gly851Arg)
c.2290G>C (p.Gly764Arg)
c.634G>C
c.2701G>C (p.Gly901Arg)
c.2683G>C (p.Gly895Arg)
c.2362G>C (p.Gly788Arg)
c.2230G>C (p.Gly744Arg)
c.2227G>C (p.Gly743Arg)
c.2311G>C (p.Gly771Arg)
c.2242G>C (p.Gly748Arg)
c.1225G>C (p.Gly409Arg)
 gnomAD v4
12g.55693284C>TCA221925ITGA7c.*2193G>A (n.*2193G>A)
c.1240G>A
n.1984G>A
c.2095G>A (p.Gly699Ser)
c.2581G>A (p.Gly861Ser)
c.*2280G>A (n.*2280G>A)
n.675G>A
c.*1053G>A (n.*1053G>A)
c.1382G>A
c.2569G>A (p.Gly857Ser)
c.2551G>A (p.Gly851Ser)
c.2290G>A (p.Gly764Ser)
c.634G>A
c.2701G>A (p.Gly901Ser)
c.2683G>A (p.Gly895Ser)
c.2362G>A (p.Gly788Ser)
c.2230G>A (p.Gly744Ser)
c.2227G>A (p.Gly743Ser)
c.2311G>A (p.Gly771Ser)
c.2242G>A (p.Gly748Ser)
c.1225G>A (p.Gly409Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693285C>ACA480145588ITGA7c.*2192G>T (n.*2192G>T)
c.1239G>T
n.1983G>T
c.2094G>T (p.Leu698=)
c.2580G>T (p.Leu860=)
c.*2279G>T (n.*2279G>T)
n.674G>T
c.*1052G>T (n.*1052G>T)
c.1381G>T
c.2568G>T (p.Leu856=)
c.2550G>T (p.Leu850=)
c.2289G>T (p.Leu763=)
c.633G>T
c.2700G>T (p.Leu900=)
c.2682G>T (p.Leu894=)
c.2361G>T (p.Leu787=)
c.2229G>T (p.Leu743=)
c.2226G>T (p.Leu742=)
c.2310G>T (p.Leu770=)
c.2241G>T (p.Leu747=)
c.1224G>T (p.Leu408=)
12g.55693285C>GCA480145592ITGA7c.*2192G>C (n.*2192G>C)
c.1239G>C
n.1983G>C
c.2094G>C (p.Leu698=)
c.2580G>C (p.Leu860=)
c.*2279G>C (n.*2279G>C)
n.674G>C
c.*1052G>C (n.*1052G>C)
c.1381G>C
c.2568G>C (p.Leu856=)
c.2550G>C (p.Leu850=)
c.2289G>C (p.Leu763=)
c.633G>C
c.2700G>C (p.Leu900=)
c.2682G>C (p.Leu894=)
c.2361G>C (p.Leu787=)
c.2229G>C (p.Leu743=)
c.2226G>C (p.Leu742=)
c.2310G>C (p.Leu770=)
c.2241G>C (p.Leu747=)
c.1224G>C (p.Leu408=)
12g.55693285C>TCA480145590ITGA7c.*2192G>A (n.*2192G>A)
c.1239G>A
n.1983G>A
c.2094G>A (p.Leu698=)
c.2580G>A (p.Leu860=)
c.*2279G>A (n.*2279G>A)
n.674G>A
c.*1052G>A (n.*1052G>A)
c.1381G>A
c.2568G>A (p.Leu856=)
c.2550G>A (p.Leu850=)
c.2289G>A (p.Leu763=)
c.633G>A
c.2700G>A (p.Leu900=)
c.2682G>A (p.Leu894=)
c.2361G>A (p.Leu787=)
c.2229G>A (p.Leu743=)
c.2226G>A (p.Leu742=)
c.2310G>A (p.Leu770=)
c.2241G>A (p.Leu747=)
c.1224G>A (p.Leu408=)
12g.55693286A=CA2038036009ITGA7c.*2191T= (n.*2191T=)
c.1238T=
n.1982T=
c.2093T= (p.Leu698=)
c.2579T= (p.Leu860=)
c.*2278T= (n.*2278T=)
n.673T=
c.*1051T= (n.*1051T=)
c.1380T=
c.2567T= (p.Leu856=)
c.2549T= (p.Leu850=)
c.2288T= (p.Leu763=)
c.632T=
c.2699T= (p.Leu900=)
c.2681T= (p.Leu894=)
c.2360T= (p.Leu787=)
c.2228T= (p.Leu743=)
c.2225T= (p.Leu742=)
c.2309T= (p.Leu770=)
c.2240T= (p.Leu747=)
c.1223T= (p.Leu408=)
12g.55693286A>CCA385181775ITGA7c.*2191T>G (n.*2191T>G)
c.1238T>G
n.1982T>G
c.2093T>G (p.Leu698Arg)
c.2579T>G (p.Leu860Arg)
c.*2278T>G (n.*2278T>G)
n.673T>G
c.*1051T>G (n.*1051T>G)
c.1380T>G
c.2567T>G (p.Leu856Arg)
c.2549T>G (p.Leu850Arg)
c.2288T>G (p.Leu763Arg)
c.632T>G
c.2699T>G (p.Leu900Arg)
c.2681T>G (p.Leu894Arg)
c.2360T>G (p.Leu787Arg)
c.2228T>G (p.Leu743Arg)
c.2225T>G (p.Leu742Arg)
c.2309T>G (p.Leu770Arg)
c.2240T>G (p.Leu747Arg)
c.1223T>G (p.Leu408Arg)
12g.55693286A>GCA385181777ITGA7c.*2191T>C (n.*2191T>C)
c.1238T>C
n.1982T>C
c.2093T>C (p.Leu698Pro)
c.2579T>C (p.Leu860Pro)
c.*2278T>C (n.*2278T>C)
n.673T>C
c.*1051T>C (n.*1051T>C)
c.1380T>C
c.2567T>C (p.Leu856Pro)
c.2549T>C (p.Leu850Pro)
c.2288T>C (p.Leu763Pro)
c.632T>C
c.2699T>C (p.Leu900Pro)
c.2681T>C (p.Leu894Pro)
c.2360T>C (p.Leu787Pro)
c.2228T>C (p.Leu743Pro)
c.2225T>C (p.Leu742Pro)
c.2309T>C (p.Leu770Pro)
c.2240T>C (p.Leu747Pro)
c.1223T>C (p.Leu408Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.55693286A>TCA385181776ITGA7c.*2191T>A (n.*2191T>A)
c.1238T>A
n.1982T>A
c.2093T>A (p.Leu698Gln)
c.2579T>A (p.Leu860Gln)
c.*2278T>A (n.*2278T>A)
n.673T>A
c.*1051T>A (n.*1051T>A)
c.1380T>A
c.2567T>A (p.Leu856Gln)
c.2549T>A (p.Leu850Gln)
c.2288T>A (p.Leu763Gln)
c.632T>A
c.2699T>A (p.Leu900Gln)
c.2681T>A (p.Leu894Gln)
c.2360T>A (p.Leu787Gln)
c.2228T>A (p.Leu743Gln)
c.2225T>A (p.Leu742Gln)
c.2309T>A (p.Leu770Gln)
c.2240T>A (p.Leu747Gln)
c.1223T>A (p.Leu408Gln)
12g.55693287G>ACA6615530ITGA7c.*2190C>T (n.*2190C>T)
c.1237C>T
n.1981C>T
c.2092C>T (p.Leu698=)
c.2578C>T (p.Leu860=)
c.*2277C>T (n.*2277C>T)
n.672C>T
c.*1050C>T (n.*1050C>T)
c.1379C>T
c.2566C>T (p.Leu856=)
c.2548C>T (p.Leu850=)
c.2287C>T (p.Leu763=)
c.631C>T
c.2698C>T (p.Leu900=)
c.2680C>T (p.Leu894=)
c.2359C>T (p.Leu787=)
c.2227C>T (p.Leu743=)
c.2224C>T (p.Leu742=)
c.2308C>T (p.Leu770=)
c.2239C>T (p.Leu747=)
c.1222C>T (p.Leu408=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693287G>CCA385181779ITGA7c.*2190C>G (n.*2190C>G)
c.1237C>G
n.1981C>G
c.2092C>G (p.Leu698Val)
c.2578C>G (p.Leu860Val)
c.*2277C>G (n.*2277C>G)
n.672C>G
c.*1050C>G (n.*1050C>G)
c.1379C>G
c.2566C>G (p.Leu856Val)
c.2548C>G (p.Leu850Val)
c.2287C>G (p.Leu763Val)
c.631C>G
c.2698C>G (p.Leu900Val)
c.2680C>G (p.Leu894Val)
c.2359C>G (p.Leu787Val)
c.2227C>G (p.Leu743Val)
c.2224C>G (p.Leu742Val)
c.2308C>G (p.Leu770Val)
c.2239C>G (p.Leu747Val)
c.1222C>G (p.Leu408Val)
12g.55693287G=CA2038036018ITGA7c.*2190C= (n.*2190C=)
c.1237C=
n.1981C=
c.2092C= (p.Leu698=)
c.2578C= (p.Leu860=)
c.*2277C= (n.*2277C=)
n.672C=
c.*1050C= (n.*1050C=)
c.1379C=
c.2566C= (p.Leu856=)
c.2548C= (p.Leu850=)
c.2287C= (p.Leu763=)
c.631C=
c.2698C= (p.Leu900=)
c.2680C= (p.Leu894=)
c.2359C= (p.Leu787=)
c.2227C= (p.Leu743=)
c.2224C= (p.Leu742=)
c.2308C= (p.Leu770=)
c.2239C= (p.Leu747=)
c.1222C= (p.Leu408=)
12g.55693287G>TCA385181778ITGA7c.*2190C>A (n.*2190C>A)
c.1237C>A
n.1981C>A
c.2092C>A (p.Leu698Met)
c.2578C>A (p.Leu860Met)
c.*2277C>A (n.*2277C>A)
n.672C>A
c.*1050C>A (n.*1050C>A)
c.1379C>A
c.2566C>A (p.Leu856Met)
c.2548C>A (p.Leu850Met)
c.2287C>A (p.Leu763Met)
c.631C>A
c.2698C>A (p.Leu900Met)
c.2680C>A (p.Leu894Met)
c.2359C>A (p.Leu787Met)
c.2227C>A (p.Leu743Met)
c.2224C>A (p.Leu742Met)
c.2308C>A (p.Leu770Met)
c.2239C>A (p.Leu747Met)
c.1222C>A (p.Leu408Met)
12g.55693288G>ACA480145598ITGA7c.*2189C>T (n.*2189C>T)
c.1236C>T
n.1980C>T
c.2091C>T (p.Thr697=)
c.2577C>T (p.Thr859=)
c.*2276C>T (n.*2276C>T)
n.671C>T
c.*1049C>T (n.*1049C>T)
c.1378C>T
c.2565C>T (p.Thr855=)
c.2547C>T (p.Thr849=)
c.2286C>T (p.Thr762=)
c.630C>T
c.2697C>T (p.Thr899=)
c.2679C>T (p.Thr893=)
c.2358C>T (p.Thr786=)
c.2226C>T (p.Thr742=)
c.2223C>T (p.Thr741=)
c.2307C>T (p.Thr769=)
c.2238C>T (p.Thr746=)
c.1221C>T (p.Thr407=)
12g.55693288G>CCA480145600ITGA7c.*2189C>G (n.*2189C>G)
c.1236C>G
n.1980C>G
c.2091C>G (p.Thr697=)
c.2577C>G (p.Thr859=)
c.*2276C>G (n.*2276C>G)
n.671C>G
c.*1049C>G (n.*1049C>G)
c.1378C>G
c.2565C>G (p.Thr855=)
c.2547C>G (p.Thr849=)
c.2286C>G (p.Thr762=)
c.630C>G
c.2697C>G (p.Thr899=)
c.2679C>G (p.Thr893=)
c.2358C>G (p.Thr786=)
c.2226C>G (p.Thr742=)
c.2223C>G (p.Thr741=)
c.2307C>G (p.Thr769=)
c.2238C>G (p.Thr746=)
c.1221C>G (p.Thr407=)
12g.55693288G>TCA480145601ITGA7c.*2189C>A (n.*2189C>A)
c.1236C>A
n.1980C>A
c.2091C>A (p.Thr697=)
c.2577C>A (p.Thr859=)
c.*2276C>A (n.*2276C>A)
n.671C>A
c.*1049C>A (n.*1049C>A)
c.1378C>A
c.2565C>A (p.Thr855=)
c.2547C>A (p.Thr849=)
c.2286C>A (p.Thr762=)
c.630C>A
c.2697C>A (p.Thr899=)
c.2679C>A (p.Thr893=)
c.2358C>A (p.Thr786=)
c.2226C>A (p.Thr742=)
c.2223C>A (p.Thr741=)
c.2307C>A (p.Thr769=)
c.2238C>A (p.Thr746=)
c.1221C>A (p.Thr407=)
12g.55693289G>ACA385181780ITGA7c.*2188C>T (n.*2188C>T)
c.1235C>T
n.1979C>T
c.2090C>T (p.Thr697Ile)
c.2576C>T (p.Thr859Ile)
c.*2275C>T (n.*2275C>T)
n.670C>T
c.*1048C>T (n.*1048C>T)
c.1377C>T
c.2564C>T (p.Thr855Ile)
c.2546C>T (p.Thr849Ile)
c.2285C>T (p.Thr762Ile)
c.629C>T
c.2696C>T (p.Thr899Ile)
c.2678C>T (p.Thr893Ile)
c.2357C>T (p.Thr786Ile)
c.2225C>T (p.Thr742Ile)
c.2222C>T (p.Thr741Ile)
c.2306C>T (p.Thr769Ile)
c.2237C>T (p.Thr746Ile)
c.1220C>T (p.Thr407Ile)
12g.55693289G>CCA385181781ITGA7c.*2188C>G (n.*2188C>G)
c.1235C>G
n.1979C>G
c.2090C>G (p.Thr697Ser)
c.2576C>G (p.Thr859Ser)
c.*2275C>G (n.*2275C>G)
n.670C>G
c.*1048C>G (n.*1048C>G)
c.1377C>G
c.2564C>G (p.Thr855Ser)
c.2546C>G (p.Thr849Ser)
c.2285C>G (p.Thr762Ser)
c.629C>G
c.2696C>G (p.Thr899Ser)
c.2678C>G (p.Thr893Ser)
c.2357C>G (p.Thr786Ser)
c.2225C>G (p.Thr742Ser)
c.2222C>G (p.Thr741Ser)
c.2306C>G (p.Thr769Ser)
c.2237C>G (p.Thr746Ser)
c.1220C>G (p.Thr407Ser)
12g.55693289G>TCA385181782ITGA7c.*2188C>A (n.*2188C>A)
c.1235C>A
n.1979C>A
c.2090C>A (p.Thr697Asn)
c.2576C>A (p.Thr859Asn)
c.*2275C>A (n.*2275C>A)
n.670C>A
c.*1048C>A (n.*1048C>A)
c.1377C>A
c.2564C>A (p.Thr855Asn)
c.2546C>A (p.Thr849Asn)
c.2285C>A (p.Thr762Asn)
c.629C>A
c.2696C>A (p.Thr899Asn)
c.2678C>A (p.Thr893Asn)
c.2357C>A (p.Thr786Asn)
c.2225C>A (p.Thr742Asn)
c.2222C>A (p.Thr741Asn)
c.2306C>A (p.Thr769Asn)
c.2237C>A (p.Thr746Asn)
c.1220C>A (p.Thr407Asn)
12g.55693290T>ACA385181783ITGA7c.*2187A>T (n.*2187A>T)
c.1234A>T
n.1978A>T
c.2089A>T (p.Thr697Ser)
c.2575A>T (p.Thr859Ser)
c.*2274A>T (n.*2274A>T)
n.669A>T
c.*1047A>T (n.*1047A>T)
c.1376A>T
c.2563A>T (p.Thr855Ser)
c.2545A>T (p.Thr849Ser)
c.2284A>T (p.Thr762Ser)
c.628A>T
c.2695A>T (p.Thr899Ser)
c.2677A>T (p.Thr893Ser)
c.2356A>T (p.Thr786Ser)
c.2224A>T (p.Thr742Ser)
c.2221A>T (p.Thr741Ser)
c.2305A>T (p.Thr769Ser)
c.2236A>T (p.Thr746Ser)
c.1219A>T (p.Thr407Ser)
12g.55693290T>CCA385181784ITGA7c.*2187A>G (n.*2187A>G)
c.1234A>G
n.1978A>G
c.2089A>G (p.Thr697Ala)
c.2575A>G (p.Thr859Ala)
c.*2274A>G (n.*2274A>G)
n.669A>G
c.*1047A>G (n.*1047A>G)
c.1376A>G
c.2563A>G (p.Thr855Ala)
c.2545A>G (p.Thr849Ala)
c.2284A>G (p.Thr762Ala)
c.628A>G
c.2695A>G (p.Thr899Ala)
c.2677A>G (p.Thr893Ala)
c.2356A>G (p.Thr786Ala)
c.2224A>G (p.Thr742Ala)
c.2221A>G (p.Thr741Ala)
c.2305A>G (p.Thr769Ala)
c.2236A>G (p.Thr746Ala)
c.1219A>G (p.Thr407Ala)
12g.55693290T>GCA385181785ITGA7c.*2187A>C (n.*2187A>C)
c.1234A>C
n.1978A>C
c.2089A>C (p.Thr697Pro)
c.2575A>C (p.Thr859Pro)
c.*2274A>C (n.*2274A>C)
n.669A>C
c.*1047A>C (n.*1047A>C)
c.1376A>C
c.2563A>C (p.Thr855Pro)
c.2545A>C (p.Thr849Pro)
c.2284A>C (p.Thr762Pro)
c.628A>C
c.2695A>C (p.Thr899Pro)
c.2677A>C (p.Thr893Pro)
c.2356A>C (p.Thr786Pro)
c.2224A>C (p.Thr742Pro)
c.2221A>C (p.Thr741Pro)
c.2305A>C (p.Thr769Pro)
c.2236A>C (p.Thr746Pro)
c.1219A>C (p.Thr407Pro)
12g.55693291T>ACA385181786ITGA7c.*2186A>T (n.*2186A>T)
c.1233A>T
n.1977A>T
c.2088A>T (p.Arg696Ser)
c.2574A>T (p.Arg858Ser)
c.*2273A>T (n.*2273A>T)
n.668A>T
c.*1046A>T (n.*1046A>T)
c.1375A>T
c.2562A>T (p.Arg854Ser)
c.2544A>T (p.Arg848Ser)
c.2283A>T (p.Arg761Ser)
c.627A>T
c.2694A>T (p.Arg898Ser)
c.2676A>T (p.Arg892Ser)
c.2355A>T (p.Arg785Ser)
c.2223A>T (p.Arg741Ser)
c.2220A>T (p.Arg740Ser)
c.2304A>T (p.Arg768Ser)
c.2235A>T (p.Arg745Ser)
c.1218A>T (p.Arg406Ser)
12g.55693291T>CCA480145609ITGA7c.*2186A>G (n.*2186A>G)
c.1233A>G
n.1977A>G
c.2088A>G (p.Arg696=)
c.2574A>G (p.Arg858=)
c.*2273A>G (n.*2273A>G)
n.668A>G
c.*1046A>G (n.*1046A>G)
c.1375A>G
c.2562A>G (p.Arg854=)
c.2544A>G (p.Arg848=)
c.2283A>G (p.Arg761=)
c.627A>G
c.2694A>G (p.Arg898=)
c.2676A>G (p.Arg892=)
c.2355A>G (p.Arg785=)
c.2223A>G (p.Arg741=)
c.2220A>G (p.Arg740=)
c.2304A>G (p.Arg768=)
c.2235A>G (p.Arg745=)
c.1218A>G (p.Arg406=)
 gnomAD v4
12g.55693291T>GCA385181787ITGA7c.*2186A>C (n.*2186A>C)
c.1233A>C
n.1977A>C
c.2088A>C (p.Arg696Ser)
c.2574A>C (p.Arg858Ser)
c.*2273A>C (n.*2273A>C)
n.668A>C
c.*1046A>C (n.*1046A>C)
c.1375A>C
c.2562A>C (p.Arg854Ser)
c.2544A>C (p.Arg848Ser)
c.2283A>C (p.Arg761Ser)
c.627A>C
c.2694A>C (p.Arg898Ser)
c.2676A>C (p.Arg892Ser)
c.2355A>C (p.Arg785Ser)
c.2223A>C (p.Arg741Ser)
c.2220A>C (p.Arg740Ser)
c.2304A>C (p.Arg768Ser)
c.2235A>C (p.Arg745Ser)
c.1218A>C (p.Arg406Ser)
12g.55693292C>ACA385181788ITGA7c.*2185G>T (n.*2185G>T)
c.1232G>T
n.1976G>T
c.2087G>T (p.Arg696Ile)
c.2573G>T (p.Arg858Ile)
c.*2272G>T (n.*2272G>T)
n.667G>T
c.*1045G>T (n.*1045G>T)
c.1374G>T
c.2561G>T (p.Arg854Ile)
c.2543G>T (p.Arg848Ile)
c.2282G>T (p.Arg761Ile)
c.626G>T
c.2693G>T (p.Arg898Ile)
c.2675G>T (p.Arg892Ile)
c.2354G>T (p.Arg785Ile)
c.2222G>T (p.Arg741Ile)
c.2219G>T (p.Arg740Ile)
c.2303G>T (p.Arg768Ile)
c.2234G>T (p.Arg745Ile)
c.1217G>T (p.Arg406Ile)
12g.55693292C>GCA385181789ITGA7c.*2185G>C (n.*2185G>C)
c.1232G>C
n.1976G>C
c.2087G>C (p.Arg696Thr)
c.2573G>C (p.Arg858Thr)
c.*2272G>C (n.*2272G>C)
n.667G>C
c.*1045G>C (n.*1045G>C)
c.1374G>C
c.2561G>C (p.Arg854Thr)
c.2543G>C (p.Arg848Thr)
c.2282G>C (p.Arg761Thr)
c.626G>C
c.2693G>C (p.Arg898Thr)
c.2675G>C (p.Arg892Thr)
c.2354G>C (p.Arg785Thr)
c.2222G>C (p.Arg741Thr)
c.2219G>C (p.Arg740Thr)
c.2303G>C (p.Arg768Thr)
c.2234G>C (p.Arg745Thr)
c.1217G>C (p.Arg406Thr)
12g.55693292C>TCA385181790ITGA7c.*2185G>A (n.*2185G>A)
c.1232G>A
n.1976G>A
c.2087G>A (p.Arg696Lys)
c.2573G>A (p.Arg858Lys)
c.*2272G>A (n.*2272G>A)
n.667G>A
c.*1045G>A (n.*1045G>A)
c.1374G>A
c.2561G>A (p.Arg854Lys)
c.2543G>A (p.Arg848Lys)
c.2282G>A (p.Arg761Lys)
c.626G>A
c.2693G>A (p.Arg898Lys)
c.2675G>A (p.Arg892Lys)
c.2354G>A (p.Arg785Lys)
c.2222G>A (p.Arg741Lys)
c.2219G>A (p.Arg740Lys)
c.2303G>A (p.Arg768Lys)
c.2234G>A (p.Arg745Lys)
c.1217G>A (p.Arg406Lys)
 gnomAD v4
12g.55693293T>ACA385181791ITGA7c.*2184A>T (n.*2184A>T)
c.1231A>T
n.1975A>T
c.2086A>T (p.Arg696Ter)
c.2572A>T (p.Arg858Ter)
c.*2271A>T (n.*2271A>T)
n.666A>T
c.*1044A>T (n.*1044A>T)
c.1373A>T
c.2560A>T (p.Arg854Ter)
c.2542A>T (p.Arg848Ter)
c.2281A>T (p.Arg761Ter)
c.625A>T
c.2692A>T (p.Arg898Ter)
c.2674A>T (p.Arg892Ter)
c.2353A>T (p.Arg785Ter)
c.2221A>T (p.Arg741Ter)
c.2218A>T (p.Arg740Ter)
c.2302A>T (p.Arg768Ter)
c.2233A>T (p.Arg745Ter)
c.1216A>T (p.Arg406Ter)
12g.55693293T>CCA385181792ITGA7c.*2184A>G (n.*2184A>G)
c.1231A>G
n.1975A>G
c.2086A>G (p.Arg696Gly)
c.2572A>G (p.Arg858Gly)
c.*2271A>G (n.*2271A>G)
n.666A>G
c.*1044A>G (n.*1044A>G)
c.1373A>G
c.2560A>G (p.Arg854Gly)
c.2542A>G (p.Arg848Gly)
c.2281A>G (p.Arg761Gly)
c.625A>G
c.2692A>G (p.Arg898Gly)
c.2674A>G (p.Arg892Gly)
c.2353A>G (p.Arg785Gly)
c.2221A>G (p.Arg741Gly)
c.2218A>G (p.Arg740Gly)
c.2302A>G (p.Arg768Gly)
c.2233A>G (p.Arg745Gly)
c.1216A>G (p.Arg406Gly)
12g.55693293T>GCA480145615ITGA7c.*2184A>C (n.*2184A>C)
c.1231A>C
n.1975A>C
c.2086A>C (p.Arg696=)
c.2572A>C (p.Arg858=)
c.*2271A>C (n.*2271A>C)
n.666A>C
c.*1044A>C (n.*1044A>C)
c.1373A>C
c.2560A>C (p.Arg854=)
c.2542A>C (p.Arg848=)
c.2281A>C (p.Arg761=)
c.625A>C
c.2692A>C (p.Arg898=)
c.2674A>C (p.Arg892=)
c.2353A>C (p.Arg785=)
c.2221A>C (p.Arg741=)
c.2218A>C (p.Arg740=)
c.2302A>C (p.Arg768=)
c.2233A>C (p.Arg745=)
c.1216A>C (p.Arg406=)
12g.55693294G>ACA480145617ITGA7c.*2183C>T (n.*2183C>T)
c.1230C>T
n.1974C>T
c.2085C>T (p.Leu695=)
c.2571C>T (p.Leu857=)
c.*2270C>T (n.*2270C>T)
n.665C>T
c.*1043C>T (n.*1043C>T)
c.1372C>T
c.2559C>T (p.Leu853=)
c.2541C>T (p.Leu847=)
c.2280C>T (p.Leu760=)
c.624C>T
c.2691C>T (p.Leu897=)
c.2673C>T (p.Leu891=)
c.2352C>T (p.Leu784=)
c.2220C>T (p.Leu740=)
c.2217C>T (p.Leu739=)
c.2301C>T (p.Leu767=)
c.2232C>T (p.Leu744=)
c.1215C>T (p.Leu405=)
12g.55693294G>CCA480145619ITGA7c.*2183C>G (n.*2183C>G)
c.1230C>G
n.1974C>G
c.2085C>G (p.Leu695=)
c.2571C>G (p.Leu857=)
c.*2270C>G (n.*2270C>G)
n.665C>G
c.*1043C>G (n.*1043C>G)
c.1372C>G
c.2559C>G (p.Leu853=)
c.2541C>G (p.Leu847=)
c.2280C>G (p.Leu760=)
c.624C>G
c.2691C>G (p.Leu897=)
c.2673C>G (p.Leu891=)
c.2352C>G (p.Leu784=)
c.2220C>G (p.Leu740=)
c.2217C>G (p.Leu739=)
c.2301C>G (p.Leu767=)
c.2232C>G (p.Leu744=)
c.1215C>G (p.Leu405=)
 COSMIC COSMIC COSMIC COSMIC
12g.55693294G>TCA480145620ITGA7c.*2183C>A (n.*2183C>A)
c.1230C>A
n.1974C>A
c.2085C>A (p.Leu695=)
c.2571C>A (p.Leu857=)
c.*2270C>A (n.*2270C>A)
n.665C>A
c.*1043C>A (n.*1043C>A)
c.1372C>A
c.2559C>A (p.Leu853=)
c.2541C>A (p.Leu847=)
c.2280C>A (p.Leu760=)
c.624C>A
c.2691C>A (p.Leu897=)
c.2673C>A (p.Leu891=)
c.2352C>A (p.Leu784=)
c.2220C>A (p.Leu740=)
c.2217C>A (p.Leu739=)
c.2301C>A (p.Leu767=)
c.2232C>A (p.Leu744=)
c.1215C>A (p.Leu405=)
12g.55693295A>CCA385181793ITGA7c.*2182T>G (n.*2182T>G)
c.1229T>G
n.1973T>G
c.2084T>G (p.Leu695Arg)
c.2570T>G (p.Leu857Arg)
c.*2269T>G (n.*2269T>G)
n.664T>G
c.*1042T>G (n.*1042T>G)
c.1371T>G
c.2558T>G (p.Leu853Arg)
c.2540T>G (p.Leu847Arg)
c.2279T>G (p.Leu760Arg)
c.623T>G
c.2690T>G (p.Leu897Arg)
c.2672T>G (p.Leu891Arg)
c.2351T>G (p.Leu784Arg)
c.2219T>G (p.Leu740Arg)
c.2216T>G (p.Leu739Arg)
c.2300T>G (p.Leu767Arg)
c.2231T>G (p.Leu744Arg)
c.1214T>G (p.Leu405Arg)
12g.55693295A>GCA385181795ITGA7c.*2182T>C (n.*2182T>C)
c.1229T>C
n.1973T>C
c.2084T>C (p.Leu695Pro)
c.2570T>C (p.Leu857Pro)
c.*2269T>C (n.*2269T>C)
n.664T>C
c.*1042T>C (n.*1042T>C)
c.1371T>C
c.2558T>C (p.Leu853Pro)
c.2540T>C (p.Leu847Pro)
c.2279T>C (p.Leu760Pro)
c.623T>C
c.2690T>C (p.Leu897Pro)
c.2672T>C (p.Leu891Pro)
c.2351T>C (p.Leu784Pro)
c.2219T>C (p.Leu740Pro)
c.2216T>C (p.Leu739Pro)
c.2300T>C (p.Leu767Pro)
c.2231T>C (p.Leu744Pro)
c.1214T>C (p.Leu405Pro)
12g.55693295A>TCA385181794ITGA7c.*2182T>A (n.*2182T>A)
c.1229T>A
n.1973T>A
c.2084T>A (p.Leu695His)
c.2570T>A (p.Leu857His)
c.*2269T>A (n.*2269T>A)
n.664T>A
c.*1042T>A (n.*1042T>A)
c.1371T>A
c.2558T>A (p.Leu853His)
c.2540T>A (p.Leu847His)
c.2279T>A (p.Leu760His)
c.623T>A
c.2690T>A (p.Leu897His)
c.2672T>A (p.Leu891His)
c.2351T>A (p.Leu784His)
c.2219T>A (p.Leu740His)
c.2216T>A (p.Leu739His)
c.2300T>A (p.Leu767His)
c.2231T>A (p.Leu744His)
c.1214T>A (p.Leu405His)
12g.55693296G>ACA385181796ITGA7c.*2181C>T (n.*2181C>T)
c.1228C>T
n.1972C>T
c.2083C>T (p.Leu695Phe)
c.2569C>T (p.Leu857Phe)
c.*2268C>T (n.*2268C>T)
n.663C>T
c.*1041C>T (n.*1041C>T)
c.1370C>T
c.2557C>T (p.Leu853Phe)
c.2539C>T (p.Leu847Phe)
c.2278C>T (p.Leu760Phe)
c.622C>T
c.2689C>T (p.Leu897Phe)
c.2671C>T (p.Leu891Phe)
c.2350C>T (p.Leu784Phe)
c.2218C>T (p.Leu740Phe)
c.2215C>T (p.Leu739Phe)
c.2299C>T (p.Leu767Phe)
c.2230C>T (p.Leu744Phe)
c.1213C>T (p.Leu405Phe)
 dbSNP
12g.55693296G>CCA385181797ITGA7c.*2181C>G (n.*2181C>G)
c.1228C>G
n.1972C>G
c.2083C>G (p.Leu695Val)
c.2569C>G (p.Leu857Val)
c.*2268C>G (n.*2268C>G)
n.663C>G
c.*1041C>G (n.*1041C>G)
c.1370C>G
c.2557C>G (p.Leu853Val)
c.2539C>G (p.Leu847Val)
c.2278C>G (p.Leu760Val)
c.622C>G
c.2689C>G (p.Leu897Val)
c.2671C>G (p.Leu891Val)
c.2350C>G (p.Leu784Val)
c.2218C>G (p.Leu740Val)
c.2215C>G (p.Leu739Val)
c.2299C>G (p.Leu767Val)
c.2230C>G (p.Leu744Val)
c.1213C>G (p.Leu405Val)
12g.55693296G=CA2038036024ITGA7c.*2181C= (n.*2181C=)
c.1228C=
n.1972C=
c.2083C= (p.Leu695=)
c.2569C= (p.Leu857=)
c.*2268C= (n.*2268C=)
n.663C=
c.*1041C= (n.*1041C=)
c.1370C=
c.2557C= (p.Leu853=)
c.2539C= (p.Leu847=)
c.2278C= (p.Leu760=)
c.622C=
c.2689C= (p.Leu897=)
c.2671C= (p.Leu891=)
c.2350C= (p.Leu784=)
c.2218C= (p.Leu740=)
c.2215C= (p.Leu739=)
c.2299C= (p.Leu767=)
c.2230C= (p.Leu744=)
c.1213C= (p.Leu405=)
12g.55693296G>TCA385181798ITGA7c.*2181C>A (n.*2181C>A)
c.1228C>A
n.1972C>A
c.2083C>A (p.Leu695Ile)
c.2569C>A (p.Leu857Ile)
c.*2268C>A (n.*2268C>A)
n.663C>A
c.*1041C>A (n.*1041C>A)
c.1370C>A
c.2557C>A (p.Leu853Ile)
c.2539C>A (p.Leu847Ile)
c.2278C>A (p.Leu760Ile)
c.622C>A
c.2689C>A (p.Leu897Ile)
c.2671C>A (p.Leu891Ile)
c.2350C>A (p.Leu784Ile)
c.2218C>A (p.Leu740Ile)
c.2215C>A (p.Leu739Ile)
c.2299C>A (p.Leu767Ile)
c.2230C>A (p.Leu744Ile)
c.1213C>A (p.Leu405Ile)
12g.55693297C>ACA480145628ITGA7c.*2180G>T (n.*2180G>T)
c.1227G>T
n.1971G>T
c.2082G>T (p.Ser694=)
c.2568G>T (p.Ser856=)
c.*2267G>T (n.*2267G>T)
n.662G>T
c.*1040G>T (n.*1040G>T)
c.1369G>T
c.2556G>T (p.Ser852=)
c.2538G>T (p.Ser846=)
c.2277G>T (p.Ser759=)
c.621G>T
c.2688G>T (p.Ser896=)
c.2670G>T (p.Ser890=)
c.2349G>T (p.Ser783=)
c.2217G>T (p.Ser739=)
c.2214G>T (p.Ser738=)
c.2298G>T (p.Ser766=)
c.2229G>T (p.Ser743=)
c.1212G>T (p.Ser404=)
 dbSNP gnomAD v3 gnomAD v4
12g.55693297C=CA2038036038ITGA7c.*2180G= (n.*2180G=)
c.1227G=
n.1971G=
c.2082G= (p.Ser694=)
c.2568G= (p.Ser856=)
c.*2267G= (n.*2267G=)
n.662G=
c.*1040G= (n.*1040G=)
c.1369G=
c.2556G= (p.Ser852=)
c.2538G= (p.Ser846=)
c.2277G= (p.Ser759=)
c.621G=
c.2688G= (p.Ser896=)
c.2670G= (p.Ser890=)
c.2349G= (p.Ser783=)
c.2217G= (p.Ser739=)
c.2214G= (p.Ser738=)
c.2298G= (p.Ser766=)
c.2229G= (p.Ser743=)
c.1212G= (p.Ser404=)
12g.55693297C>GCA480145630ITGA7c.*2180G>C (n.*2180G>C)
c.1227G>C
n.1971G>C
c.2082G>C (p.Ser694=)
c.2568G>C (p.Ser856=)
c.*2267G>C (n.*2267G>C)
n.662G>C
c.*1040G>C (n.*1040G>C)
c.1369G>C
c.2556G>C (p.Ser852=)
c.2538G>C (p.Ser846=)
c.2277G>C (p.Ser759=)
c.621G>C
c.2688G>C (p.Ser896=)
c.2670G>C (p.Ser890=)
c.2349G>C (p.Ser783=)
c.2217G>C (p.Ser739=)
c.2214G>C (p.Ser738=)
c.2298G>C (p.Ser766=)
c.2229G>C (p.Ser743=)
c.1212G>C (p.Ser404=)
12g.55693297C>TCA6615531ITGA7c.*2180G>A (n.*2180G>A)
c.1227G>A
n.1971G>A
c.2082G>A (p.Ser694=)
c.2568G>A (p.Ser856=)
c.*2267G>A (n.*2267G>A)
n.662G>A
c.*1040G>A (n.*1040G>A)
c.1369G>A
c.2556G>A (p.Ser852=)
c.2538G>A (p.Ser846=)
c.2277G>A (p.Ser759=)
c.621G>A
c.2688G>A (p.Ser896=)
c.2670G>A (p.Ser890=)
c.2349G>A (p.Ser783=)
c.2217G>A (p.Ser739=)
c.2214G>A (p.Ser738=)
c.2298G>A (p.Ser766=)
c.2229G>A (p.Ser743=)
c.1212G>A (p.Ser404=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.55693298G>ACA6615532ITGA7c.*2179C>T (n.*2179C>T)
c.1226C>T
n.1970C>T
c.2081C>T (p.Ser694Leu)
c.2567C>T (p.Ser856Leu)
c.*2266C>T (n.*2266C>T)
n.661C>T
c.*1039C>T (n.*1039C>T)
c.1368C>T
c.2555C>T (p.Ser852Leu)
c.2537C>T (p.Ser846Leu)
c.2276C>T (p.Ser759Leu)
c.620C>T
c.2687C>T (p.Ser896Leu)
c.2669C>T (p.Ser890Leu)
c.2348C>T (p.Ser783Leu)
c.2216C>T (p.Ser739Leu)
c.2213C>T (p.Ser738Leu)
c.2297C>T (p.Ser766Leu)
c.2228C>T (p.Ser743Leu)
c.1211C>T (p.Ser404Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
12g.55693298G>CCA385181799ITGA7c.*2179C>G (n.*2179C>G)
c.1226C>G
n.1970C>G
c.2081C>G (p.Ser694Trp)
c.2567C>G (p.Ser856Trp)
c.*2266C>G (n.*2266C>G)
n.661C>G
c.*1039C>G (n.*1039C>G)
c.1368C>G
c.2555C>G (p.Ser852Trp)
c.2537C>G (p.Ser846Trp)
c.2276C>G (p.Ser759Trp)
c.620C>G
c.2687C>G (p.Ser896Trp)
c.2669C>G (p.Ser890Trp)
c.2348C>G (p.Ser783Trp)
c.2216C>G (p.Ser739Trp)
c.2213C>G (p.Ser738Trp)
c.2297C>G (p.Ser766Trp)
c.2228C>G (p.Ser743Trp)
c.1211C>G (p.Ser404Trp)
 gnomAD v4
12g.55693298G=CA2038036051ITGA7c.*2179C= (n.*2179C=)
c.1226C=
n.1970C=
c.2081C= (p.Ser694=)
c.2567C= (p.Ser856=)
c.*2266C= (n.*2266C=)
n.661C=
c.*1039C= (n.*1039C=)
c.1368C=
c.2555C= (p.Ser852=)
c.2537C= (p.Ser846=)
c.2276C= (p.Ser759=)
c.620C=
c.2687C= (p.Ser896=)
c.2669C= (p.Ser890=)
c.2348C= (p.Ser783=)
c.2216C= (p.Ser739=)
c.2213C= (p.Ser738=)
c.2297C= (p.Ser766=)
c.2228C= (p.Ser743=)
c.1211C= (p.Ser404=)
12g.55693298G>TCA385181800ITGA7c.*2179C>A (n.*2179C>A)
c.1226C>A
n.1970C>A
c.2081C>A (p.Ser694Ter)
c.2567C>A (p.Ser856Ter)
c.*2266C>A (n.*2266C>A)
n.661C>A
c.*1039C>A (n.*1039C>A)
c.1368C>A
c.2555C>A (p.Ser852Ter)
c.2537C>A (p.Ser846Ter)
c.2276C>A (p.Ser759Ter)
c.620C>A
c.2687C>A (p.Ser896Ter)
c.2669C>A (p.Ser890Ter)
c.2348C>A (p.Ser783Ter)
c.2216C>A (p.Ser739Ter)
c.2213C>A (p.Ser738Ter)
c.2297C>A (p.Ser766Ter)
c.2228C>A (p.Ser743Ter)
c.1211C>A (p.Ser404Ter)
 gnomAD v4
12g.55693299A>CCA385181801ITGA7c.*2178T>G (n.*2178T>G)
c.1225T>G
n.1969T>G
c.2080T>G (p.Ser694Ala)
c.2566T>G (p.Ser856Ala)
c.*2265T>G (n.*2265T>G)
n.660T>G
c.*1038T>G (n.*1038T>G)
c.1367T>G
c.2554T>G (p.Ser852Ala)
c.2536T>G (p.Ser846Ala)
c.2275T>G (p.Ser759Ala)
c.619T>G
c.2686T>G (p.Ser896Ala)
c.2668T>G (p.Ser890Ala)
c.2347T>G (p.Ser783Ala)
c.2215T>G (p.Ser739Ala)
c.2212T>G (p.Ser738Ala)
c.2296T>G (p.Ser766Ala)
c.2227T>G (p.Ser743Ala)
c.1210T>G (p.Ser404Ala)
12g.55693299A>GCA385181802ITGA7c.*2178T>C (n.*2178T>C)
c.1225T>C
n.1969T>C
c.2080T>C (p.Ser694Pro)
c.2566T>C (p.Ser856Pro)
c.*2265T>C (n.*2265T>C)
n.660T>C
c.*1038T>C (n.*1038T>C)
c.1367T>C
c.2554T>C (p.Ser852Pro)
c.2536T>C (p.Ser846Pro)
c.2275T>C (p.Ser759Pro)
c.619T>C
c.2686T>C (p.Ser896Pro)
c.2668T>C (p.Ser890Pro)
c.2347T>C (p.Ser783Pro)
c.2215T>C (p.Ser739Pro)
c.2212T>C (p.Ser738Pro)
c.2296T>C (p.Ser766Pro)
c.2227T>C (p.Ser743Pro)
c.1210T>C (p.Ser404Pro)
 gnomAD v4
12g.55693299A>TCA385181803ITGA7c.*2178T>A (n.*2178T>A)
c.1225T>A
n.1969T>A
c.2080T>A (p.Ser694Thr)
c.2566T>A (p.Ser856Thr)
c.*2265T>A (n.*2265T>A)
n.660T>A
c.*1038T>A (n.*1038T>A)
c.1367T>A
c.2554T>A (p.Ser852Thr)
c.2536T>A (p.Ser846Thr)
c.2275T>A (p.Ser759Thr)
c.619T>A
c.2686T>A (p.Ser896Thr)
c.2668T>A (p.Ser890Thr)
c.2347T>A (p.Ser783Thr)
c.2215T>A (p.Ser739Thr)
c.2212T>A (p.Ser738Thr)
c.2296T>A (p.Ser766Thr)
c.2227T>A (p.Ser743Thr)
c.1210T>A (p.Ser404Thr)
12g.55693300C>ACA385181805ITGA7c.*2177G>T (n.*2177G>T)
c.1224G>T
n.1968G>T
c.2079G>T (p.Gln693His)
c.2565G>T (p.Gln855His)
c.*2264G>T (n.*2264G>T)
n.659G>T
c.*1037G>T (n.*1037G>T)
c.1366G>T
c.2553G>T (p.Gln851His)
c.2535G>T (p.Gln845His)
c.2274G>T (p.Gln758His)
c.618G>T
c.2685G>T (p.Gln895His)
c.2667G>T (p.Gln889His)
c.2346G>T (p.Gln782His)
c.2214G>T (p.Gln738His)
c.2211G>T (p.Gln737His)
c.2295G>T (p.Gln765His)
c.2226G>T (p.Gln742His)
c.1209G>T (p.Gln403His)
12g.55693300C>GCA385181804ITGA7c.*2177G>C (n.*2177G>C)
c.1224G>C
n.1968G>C
c.2079G>C (p.Gln693His)
c.2565G>C (p.Gln855His)
c.*2264G>C (n.*2264G>C)
n.659G>C
c.*1037G>C (n.*1037G>C)
c.1366G>C
c.2553G>C (p.Gln851His)
c.2535G>C (p.Gln845His)
c.2274G>C (p.Gln758His)
c.618G>C
c.2685G>C (p.Gln895His)
c.2667G>C (p.Gln889His)
c.2346G>C (p.Gln782His)
c.2214G>C (p.Gln738His)
c.2211G>C (p.Gln737His)
c.2295G>C (p.Gln765His)
c.2226G>C (p.Gln742His)
c.1209G>C (p.Gln403His)
12g.55693300C>TCA480145636ITGA7c.*2177G>A (n.*2177G>A)
c.1224G>A
n.1968G>A
c.2079G>A (p.Gln693=)
c.2565G>A (p.Gln855=)
c.*2264G>A (n.*2264G>A)
n.659G>A
c.*1037G>A (n.*1037G>A)
c.1366G>A
c.2553G>A (p.Gln851=)
c.2535G>A (p.Gln845=)
c.2274G>A (p.Gln758=)
c.618G>A
c.2685G>A (p.Gln895=)
c.2667G>A (p.Gln889=)
c.2346G>A (p.Gln782=)
c.2214G>A (p.Gln738=)
c.2211G>A (p.Gln737=)
c.2295G>A (p.Gln765=)
c.2226G>A (p.Gln742=)
c.1209G>A (p.Gln403=)
12g.55693301T>ACA385181806ITGA7c.*2176A>T (n.*2176A>T)
c.1223A>T
n.1967A>T
c.2078A>T (p.Gln693Leu)
c.2564A>T (p.Gln855Leu)
c.*2263A>T (n.*2263A>T)
n.658A>T
c.*1036A>T (n.*1036A>T)
c.1365A>T
c.2552A>T (p.Gln851Leu)
c.2534A>T (p.Gln845Leu)
c.2273A>T (p.Gln758Leu)
c.617A>T
c.2684A>T (p.Gln895Leu)
c.2666A>T (p.Gln889Leu)
c.2345A>T (p.Gln782Leu)
c.2213A>T (p.Gln738Leu)
c.2210A>T (p.Gln737Leu)
c.2294A>T (p.Gln765Leu)
c.2225A>T (p.Gln742Leu)
c.1208A>T (p.Gln403Leu)
12g.55693301T>CCA385181807ITGA7c.*2176A>G (n.*2176A>G)
c.1223A>G
n.1967A>G
c.2078A>G (p.Gln693Arg)
c.2564A>G (p.Gln855Arg)
c.*2263A>G (n.*2263A>G)
n.658A>G
c.*1036A>G (n.*1036A>G)
c.1365A>G
c.2552A>G (p.Gln851Arg)
c.2534A>G (p.Gln845Arg)
c.2273A>G (p.Gln758Arg)
c.617A>G
c.2684A>G (p.Gln895Arg)
c.2666A>G (p.Gln889Arg)
c.2345A>G (p.Gln782Arg)
c.2213A>G (p.Gln738Arg)
c.2210A>G (p.Gln737Arg)
c.2294A>G (p.Gln765Arg)
c.2225A>G (p.Gln742Arg)
c.1208A>G (p.Gln403Arg)
 gnomAD v4
12g.55693301T>GCA385181808ITGA7c.*2176A>C (n.*2176A>C)
c.1223A>C
n.1967A>C
c.2078A>C (p.Gln693Pro)
c.2564A>C (p.Gln855Pro)
c.*2263A>C (n.*2263A>C)
n.658A>C
c.*1036A>C (n.*1036A>C)
c.1365A>C
c.2552A>C (p.Gln851Pro)
c.2534A>C (p.Gln845Pro)
c.2273A>C (p.Gln758Pro)
c.617A>C
c.2684A>C (p.Gln895Pro)
c.2666A>C (p.Gln889Pro)
c.2345A>C (p.Gln782Pro)
c.2213A>C (p.Gln738Pro)
c.2210A>C (p.Gln737Pro)
c.2294A>C (p.Gln765Pro)
c.2225A>C (p.Gln742Pro)
c.1208A>C (p.Gln403Pro)
 gnomAD v4
12g.55693302G>ACA385181809ITGA7c.*2175C>T (n.*2175C>T)
c.1222C>T
n.1966C>T
c.2077C>T (p.Gln693Ter)
c.2563C>T (p.Gln855Ter)
c.*2262C>T (n.*2262C>T)
n.657C>T
c.*1035C>T (n.*1035C>T)
c.1364C>T
c.2551C>T (p.Gln851Ter)
c.2533C>T (p.Gln845Ter)
c.2272C>T (p.Gln758Ter)
c.616C>T
c.2683C>T (p.Gln895Ter)
c.2665C>T (p.Gln889Ter)
c.2344C>T (p.Gln782Ter)
c.2212C>T (p.Gln738Ter)
c.2209C>T (p.Gln737Ter)
c.2293C>T (p.Gln765Ter)
c.2224C>T (p.Gln742Ter)
c.1207C>T (p.Gln403Ter)
12g.55693302G>CCA385181810ITGA7c.*2175C>G (n.*2175C>G)
c.1222C>G
n.1966C>G
c.2077C>G (p.Gln693Glu)
c.2563C>G (p.Gln855Glu)
c.*2262C>G (n.*2262C>G)
n.657C>G
c.*1035C>G (n.*1035C>G)
c.1364C>G
c.2551C>G (p.Gln851Glu)
c.2533C>G (p.Gln845Glu)
c.2272C>G (p.Gln758Glu)
c.616C>G
c.2683C>G (p.Gln895Glu)
c.2665C>G (p.Gln889Glu)
c.2344C>G (p.Gln782Glu)
c.2212C>G (p.Gln738Glu)
c.2209C>G (p.Gln737Glu)
c.2293C>G (p.Gln765Glu)
c.2224C>G (p.Gln742Glu)
c.1207C>G (p.Gln403Glu)
12g.55693302G>TCA385181811ITGA7c.*2175C>A (n.*2175C>A)
c.1222C>A
n.1966C>A
c.2077C>A (p.Gln693Lys)
c.2563C>A (p.Gln855Lys)
c.*2262C>A (n.*2262C>A)
n.657C>A
c.*1035C>A (n.*1035C>A)
c.1364C>A
c.2551C>A (p.Gln851Lys)
c.2533C>A (p.Gln845Lys)
c.2272C>A (p.Gln758Lys)
c.616C>A
c.2683C>A (p.Gln895Lys)
c.2665C>A (p.Gln889Lys)
c.2344C>A (p.Gln782Lys)
c.2212C>A (p.Gln738Lys)
c.2209C>A (p.Gln737Lys)
c.2293C>A (p.Gln765Lys)
c.2224C>A (p.Gln742Lys)
c.1207C>A (p.Gln403Lys)
12g.55693303G>ACA6615533ITGA7c.*2174C>T (n.*2174C>T)
c.1221C>T
n.1965C>T
c.2076C>T (p.Gly692=)
c.2562C>T (p.Gly854=)
c.*2261C>T (n.*2261C>T)
n.656C>T
c.*1034C>T (n.*1034C>T)
c.1363C>T
c.2550C>T (p.Gly850=)
c.2532C>T (p.Gly844=)
c.2271C>T (p.Gly757=)
c.615C>T
c.2682C>T (p.Gly894=)
c.2664C>T (p.Gly888=)
c.2343C>T (p.Gly781=)
c.2211C>T (p.Gly737=)
c.2208C>T (p.Gly736=)
c.2292C>T (p.Gly764=)
c.2223C>T (p.Gly741=)
c.1206C>T (p.Gly402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693303G>CCA480145645ITGA7c.*2174C>G (n.*2174C>G)
c.1221C>G
n.1965C>G
c.2076C>G (p.Gly692=)
c.2562C>G (p.Gly854=)
c.*2261C>G (n.*2261C>G)
n.656C>G
c.*1034C>G (n.*1034C>G)
c.1363C>G
c.2550C>G (p.Gly850=)
c.2532C>G (p.Gly844=)
c.2271C>G (p.Gly757=)
c.615C>G
c.2682C>G (p.Gly894=)
c.2664C>G (p.Gly888=)
c.2343C>G (p.Gly781=)
c.2211C>G (p.Gly737=)
c.2208C>G (p.Gly736=)
c.2292C>G (p.Gly764=)
c.2223C>G (p.Gly741=)
c.1206C>G (p.Gly402=)
12g.55693303G=CA2038036058ITGA7c.*2174C= (n.*2174C=)
c.1221C=
n.1965C=
c.2076C= (p.Gly692=)
c.2562C= (p.Gly854=)
c.*2261C= (n.*2261C=)
n.656C=
c.*1034C= (n.*1034C=)
c.1363C=
c.2550C= (p.Gly850=)
c.2532C= (p.Gly844=)
c.2271C= (p.Gly757=)
c.615C=
c.2682C= (p.Gly894=)
c.2664C= (p.Gly888=)
c.2343C= (p.Gly781=)
c.2211C= (p.Gly737=)
c.2208C= (p.Gly736=)
c.2292C= (p.Gly764=)
c.2223C= (p.Gly741=)
c.1206C= (p.Gly402=)
12g.55693303G>TCA480145647ITGA7c.*2174C>A (n.*2174C>A)
c.1221C>A
n.1965C>A
c.2076C>A (p.Gly692=)
c.2562C>A (p.Gly854=)
c.*2261C>A (n.*2261C>A)
n.656C>A
c.*1034C>A (n.*1034C>A)
c.1363C>A
c.2550C>A (p.Gly850=)
c.2532C>A (p.Gly844=)
c.2271C>A (p.Gly757=)
c.615C>A
c.2682C>A (p.Gly894=)
c.2664C>A (p.Gly888=)
c.2343C>A (p.Gly781=)
c.2211C>A (p.Gly737=)
c.2208C>A (p.Gly736=)
c.2292C>A (p.Gly764=)
c.2223C>A (p.Gly741=)
c.1206C>A (p.Gly402=)
12g.55693304C>ACA385181814ITGA7c.*2173G>T (n.*2173G>T)
c.1220G>T
n.1964G>T
c.2075G>T (p.Gly692Val)
c.2561G>T (p.Gly854Val)
c.*2260G>T (n.*2260G>T)
n.655G>T
c.*1033G>T (n.*1033G>T)
c.1362G>T
c.2549G>T (p.Gly850Val)
c.2531G>T (p.Gly844Val)
c.2270G>T (p.Gly757Val)
c.614G>T
c.2681G>T (p.Gly894Val)
c.2663G>T (p.Gly888Val)
c.2342G>T (p.Gly781Val)
c.2210G>T (p.Gly737Val)
c.2207G>T (p.Gly736Val)
c.2291G>T (p.Gly764Val)
c.2222G>T (p.Gly741Val)
c.1205G>T (p.Gly402Val)
12g.55693304C>GCA385181812ITGA7c.*2173G>C (n.*2173G>C)
c.1220G>C
n.1964G>C
c.2075G>C (p.Gly692Ala)
c.2561G>C (p.Gly854Ala)
c.*2260G>C (n.*2260G>C)
n.655G>C
c.*1033G>C (n.*1033G>C)
c.1362G>C
c.2549G>C (p.Gly850Ala)
c.2531G>C (p.Gly844Ala)
c.2270G>C (p.Gly757Ala)
c.614G>C
c.2681G>C (p.Gly894Ala)
c.2663G>C (p.Gly888Ala)
c.2342G>C (p.Gly781Ala)
c.2210G>C (p.Gly737Ala)
c.2207G>C (p.Gly736Ala)
c.2291G>C (p.Gly764Ala)
c.2222G>C (p.Gly741Ala)
c.1205G>C (p.Gly402Ala)
12g.55693304C>TCA385181813ITGA7c.*2173G>A (n.*2173G>A)
c.1220G>A
n.1964G>A
c.2075G>A (p.Gly692Asp)
c.2561G>A (p.Gly854Asp)
c.*2260G>A (n.*2260G>A)
n.655G>A
c.*1033G>A (n.*1033G>A)
c.1362G>A
c.2549G>A (p.Gly850Asp)
c.2531G>A (p.Gly844Asp)
c.2270G>A (p.Gly757Asp)
c.614G>A
c.2681G>A (p.Gly894Asp)
c.2663G>A (p.Gly888Asp)
c.2342G>A (p.Gly781Asp)
c.2210G>A (p.Gly737Asp)
c.2207G>A (p.Gly736Asp)
c.2291G>A (p.Gly764Asp)
c.2222G>A (p.Gly741Asp)
c.1205G>A (p.Gly402Asp)
 gnomAD v4
12g.55693305C>ACA385181815ITGA7c.*2172G>T (n.*2172G>T)
c.1219G>T
n.1963G>T
c.2074G>T (p.Gly692Cys)
c.2560G>T (p.Gly854Cys)
c.*2259G>T (n.*2259G>T)
n.654G>T
c.*1032G>T (n.*1032G>T)
c.1361G>T
c.2548G>T (p.Gly850Cys)
c.2530G>T (p.Gly844Cys)
c.2269G>T (p.Gly757Cys)
c.613G>T
c.2680G>T (p.Gly894Cys)
c.2662G>T (p.Gly888Cys)
c.2341G>T (p.Gly781Cys)
c.2209G>T (p.Gly737Cys)
c.2206G>T (p.Gly736Cys)
c.2290G>T (p.Gly764Cys)
c.2221G>T (p.Gly741Cys)
c.1204G>T (p.Gly402Cys)
12g.55693305C>GCA385181816ITGA7c.*2172G>C (n.*2172G>C)
c.1219G>C
n.1963G>C
c.2074G>C (p.Gly692Arg)
c.2560G>C (p.Gly854Arg)
c.*2259G>C (n.*2259G>C)
n.654G>C
c.*1032G>C (n.*1032G>C)
c.1361G>C
c.2548G>C (p.Gly850Arg)
c.2530G>C (p.Gly844Arg)
c.2269G>C (p.Gly757Arg)
c.613G>C
c.2680G>C (p.Gly894Arg)
c.2662G>C (p.Gly888Arg)
c.2341G>C (p.Gly781Arg)
c.2209G>C (p.Gly737Arg)
c.2206G>C (p.Gly736Arg)
c.2290G>C (p.Gly764Arg)
c.2221G>C (p.Gly741Arg)
c.1204G>C (p.Gly402Arg)
12g.55693305C>TCA385181817ITGA7c.*2172G>A (n.*2172G>A)
c.1219G>A
n.1963G>A
c.2074G>A (p.Gly692Ser)
c.2560G>A (p.Gly854Ser)
c.*2259G>A (n.*2259G>A)
n.654G>A
c.*1032G>A (n.*1032G>A)
c.1361G>A
c.2548G>A (p.Gly850Ser)
c.2530G>A (p.Gly844Ser)
c.2269G>A (p.Gly757Ser)
c.613G>A
c.2680G>A (p.Gly894Ser)
c.2662G>A (p.Gly888Ser)
c.2341G>A (p.Gly781Ser)
c.2209G>A (p.Gly737Ser)
c.2206G>A (p.Gly736Ser)
c.2290G>A (p.Gly764Ser)
c.2221G>A (p.Gly741Ser)
c.1204G>A (p.Gly402Ser)
12g.55693306T>ACA385181818ITGA7c.*2171A>T (n.*2171A>T)
c.1218A>T
n.1962A>T
c.2073A>T (p.Gln691His)
c.2559A>T (p.Gln853His)
c.*2258A>T (n.*2258A>T)
n.653A>T
c.*1031A>T (n.*1031A>T)
c.1360A>T
c.2547A>T (p.Gln849His)
c.2529A>T (p.Gln843His)
c.2268A>T (p.Gln756His)
c.612A>T
c.2679A>T (p.Gln893His)
c.2661A>T (p.Gln887His)
c.2340A>T (p.Gln780His)
c.2208A>T (p.Gln736His)
c.2205A>T (p.Gln735His)
c.2289A>T (p.Gln763His)
c.2220A>T (p.Gln740His)
c.1203A>T (p.Gln401His)
12g.55693306T>CCA480145654ITGA7c.*2171A>G (n.*2171A>G)
c.1218A>G
n.1962A>G
c.2073A>G (p.Gln691=)
c.2559A>G (p.Gln853=)
c.*2258A>G (n.*2258A>G)
n.653A>G
c.*1031A>G (n.*1031A>G)
c.1360A>G
c.2547A>G (p.Gln849=)
c.2529A>G (p.Gln843=)
c.2268A>G (p.Gln756=)
c.612A>G
c.2679A>G (p.Gln893=)
c.2661A>G (p.Gln887=)
c.2340A>G (p.Gln780=)
c.2208A>G (p.Gln736=)
c.2205A>G (p.Gln735=)
c.2289A>G (p.Gln763=)
c.2220A>G (p.Gln740=)
c.1203A>G (p.Gln401=)
12g.55693306T>GCA385181819ITGA7c.*2171A>C (n.*2171A>C)
c.1218A>C
n.1962A>C
c.2073A>C (p.Gln691His)
c.2559A>C (p.Gln853His)
c.*2258A>C (n.*2258A>C)
n.653A>C
c.*1031A>C (n.*1031A>C)
c.1360A>C
c.2547A>C (p.Gln849His)
c.2529A>C (p.Gln843His)
c.2268A>C (p.Gln756His)
c.612A>C
c.2679A>C (p.Gln893His)
c.2661A>C (p.Gln887His)
c.2340A>C (p.Gln780His)
c.2208A>C (p.Gln736His)
c.2205A>C (p.Gln735His)
c.2289A>C (p.Gln763His)
c.2220A>C (p.Gln740His)
c.1203A>C (p.Gln401His)
12g.55693307delCA2619199472ITGA7c.*2171del (n.*2171del)
c.1218del
n.1962del
c.2073del (p.Gly692AlafsTer?)
c.2559del (p.Gly854AlafsTer?)
c.*2258del (n.*2258del)
n.653del
c.*1031del (n.*1031del)
c.1360del
c.2547del (p.Gly850AlafsTer?)
c.2529del (p.Gly844AlafsTer?)
c.2268del (p.Gly757AlafsTer?)
c.612del
c.2679del (p.Gly894AlafsTer?)
c.2661del (p.Gly888AlafsTer?)
c.2340del (p.Gly781AlafsTer?)
c.2208del (p.Gly737AlafsTer?)
c.2205del (p.Gly736AlafsTer?)
c.2289del (p.Gly764AlafsTer?)
c.2220del (p.Gly741AlafsTer?)
c.1203del (p.Gly402AlafsTer?)
 gnomAD v4
12g.55693307T>ACA385181820ITGA7c.*2170A>T (n.*2170A>T)
c.1217A>T
n.1961A>T
c.2072A>T (p.Gln691Leu)
c.2558A>T (p.Gln853Leu)
c.*2257A>T (n.*2257A>T)
n.652A>T
c.*1030A>T (n.*1030A>T)
c.1359A>T
c.2546A>T (p.Gln849Leu)
c.2528A>T (p.Gln843Leu)
c.2267A>T (p.Gln756Leu)
c.611A>T
c.2678A>T (p.Gln893Leu)
c.2660A>T (p.Gln887Leu)
c.2339A>T (p.Gln780Leu)
c.2207A>T (p.Gln736Leu)
c.2204A>T (p.Gln735Leu)
c.2288A>T (p.Gln763Leu)
c.2219A>T (p.Gln740Leu)
c.1202A>T (p.Gln401Leu)
12g.55693307T>CCA385181822ITGA7c.*2170A>G (n.*2170A>G)
c.1217A>G
n.1961A>G
c.2072A>G (p.Gln691Arg)
c.2558A>G (p.Gln853Arg)
c.*2257A>G (n.*2257A>G)
n.652A>G
c.*1030A>G (n.*1030A>G)
c.1359A>G
c.2546A>G (p.Gln849Arg)
c.2528A>G (p.Gln843Arg)
c.2267A>G (p.Gln756Arg)
c.611A>G
c.2678A>G (p.Gln893Arg)
c.2660A>G (p.Gln887Arg)
c.2339A>G (p.Gln780Arg)
c.2207A>G (p.Gln736Arg)
c.2204A>G (p.Gln735Arg)
c.2288A>G (p.Gln763Arg)
c.2219A>G (p.Gln740Arg)
c.1202A>G (p.Gln401Arg)
12g.55693307T>GCA385181821ITGA7c.*2170A>C (n.*2170A>C)
c.1217A>C
n.1961A>C
c.2072A>C (p.Gln691Pro)
c.2558A>C (p.Gln853Pro)
c.*2257A>C (n.*2257A>C)
n.652A>C
c.*1030A>C (n.*1030A>C)
c.1359A>C
c.2546A>C (p.Gln849Pro)
c.2528A>C (p.Gln843Pro)
c.2267A>C (p.Gln756Pro)
c.611A>C
c.2678A>C (p.Gln893Pro)
c.2660A>C (p.Gln887Pro)
c.2339A>C (p.Gln780Pro)
c.2207A>C (p.Gln736Pro)
c.2204A>C (p.Gln735Pro)
c.2288A>C (p.Gln763Pro)
c.2219A>C (p.Gln740Pro)
c.1202A>C (p.Gln401Pro)
12g.55693308G>ACA385181823ITGA7c.*2169C>T (n.*2169C>T)
c.1216C>T
n.1960C>T
c.2071C>T (p.Gln691Ter)
c.2557C>T (p.Gln853Ter)
c.*2256C>T (n.*2256C>T)
n.651C>T
c.*1029C>T (n.*1029C>T)
c.1358C>T
c.2545C>T (p.Gln849Ter)
c.2527C>T (p.Gln843Ter)
c.2266C>T (p.Gln756Ter)
c.610C>T
c.2677C>T (p.Gln893Ter)
c.2659C>T (p.Gln887Ter)
c.2338C>T (p.Gln780Ter)
c.2206C>T (p.Gln736Ter)
c.2203C>T (p.Gln735Ter)
c.2287C>T (p.Gln763Ter)
c.2218C>T (p.Gln740Ter)
c.1201C>T (p.Gln401Ter)
12g.55693308G>CCA6615534ITGA7c.*2169C>G (n.*2169C>G)
c.1216C>G
n.1960C>G
c.2071C>G (p.Gln691Glu)
c.2557C>G (p.Gln853Glu)
c.*2256C>G (n.*2256C>G)
n.651C>G
c.*1029C>G (n.*1029C>G)
c.1358C>G
c.2545C>G (p.Gln849Glu)
c.2527C>G (p.Gln843Glu)
c.2266C>G (p.Gln756Glu)
c.610C>G
c.2677C>G (p.Gln893Glu)
c.2659C>G (p.Gln887Glu)
c.2338C>G (p.Gln780Glu)
c.2206C>G (p.Gln736Glu)
c.2203C>G (p.Gln735Glu)
c.2287C>G (p.Gln763Glu)
c.2218C>G (p.Gln740Glu)
c.1201C>G (p.Gln401Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693308G=CA2038036066ITGA7c.*2169C= (n.*2169C=)
c.1216C=
n.1960C=
c.2071C= (p.Gln691=)
c.2557C= (p.Gln853=)
c.*2256C= (n.*2256C=)
n.651C=
c.*1029C= (n.*1029C=)
c.1358C=
c.2545C= (p.Gln849=)
c.2527C= (p.Gln843=)
c.2266C= (p.Gln756=)
c.610C=
c.2677C= (p.Gln893=)
c.2659C= (p.Gln887=)
c.2338C= (p.Gln780=)
c.2206C= (p.Gln736=)
c.2203C= (p.Gln735=)
c.2287C= (p.Gln763=)
c.2218C= (p.Gln740=)
c.1201C= (p.Gln401=)
12g.55693308G>TCA385181824ITGA7c.*2169C>A (n.*2169C>A)
c.1216C>A
n.1960C>A
c.2071C>A (p.Gln691Lys)
c.2557C>A (p.Gln853Lys)
c.*2256C>A (n.*2256C>A)
n.651C>A
c.*1029C>A (n.*1029C>A)
c.1358C>A
c.2545C>A (p.Gln849Lys)
c.2527C>A (p.Gln843Lys)
c.2266C>A (p.Gln756Lys)
c.610C>A
c.2677C>A (p.Gln893Lys)
c.2659C>A (p.Gln887Lys)
c.2338C>A (p.Gln780Lys)
c.2206C>A (p.Gln736Lys)
c.2203C>A (p.Gln735Lys)
c.2287C>A (p.Gln763Lys)
c.2218C>A (p.Gln740Lys)
c.1201C>A (p.Gln401Lys)
12g.55693309G>ACA480145663ITGA7c.*2168C>T (n.*2168C>T)
c.1215C>T
n.1959C>T
c.2070C>T (p.Asn690=)
c.2556C>T (p.Asn852=)
c.*2255C>T (n.*2255C>T)
n.650C>T
c.*1028C>T (n.*1028C>T)
c.1357C>T
c.2544C>T (p.Asn848=)
c.2526C>T (p.Asn842=)
c.2265C>T (p.Asn755=)
c.609C>T
c.2676C>T (p.Asn892=)
c.2658C>T (p.Asn886=)
c.2337C>T (p.Asn779=)
c.2205C>T (p.Asn735=)
c.2202C>T (p.Asn734=)
c.2286C>T (p.Asn762=)
c.2217C>T (p.Asn739=)
c.1200C>T (p.Asn400=)
12g.55693309G>CCA385181825ITGA7c.*2168C>G (n.*2168C>G)
c.1215C>G
n.1959C>G
c.2070C>G (p.Asn690Lys)
c.2556C>G (p.Asn852Lys)
c.*2255C>G (n.*2255C>G)
n.650C>G
c.*1028C>G (n.*1028C>G)
c.1357C>G
c.2544C>G (p.Asn848Lys)
c.2526C>G (p.Asn842Lys)
c.2265C>G (p.Asn755Lys)
c.609C>G
c.2676C>G (p.Asn892Lys)
c.2658C>G (p.Asn886Lys)
c.2337C>G (p.Asn779Lys)
c.2205C>G (p.Asn735Lys)
c.2202C>G (p.Asn734Lys)
c.2286C>G (p.Asn762Lys)
c.2217C>G (p.Asn739Lys)
c.1200C>G (p.Asn400Lys)
 dbSNP
12g.55693309G>TCA385181826ITGA7c.*2168C>A (n.*2168C>A)
c.1215C>A
n.1959C>A
c.2070C>A (p.Asn690Lys)
c.2556C>A (p.Asn852Lys)
c.*2255C>A (n.*2255C>A)
n.650C>A
c.*1028C>A (n.*1028C>A)
c.1357C>A
c.2544C>A (p.Asn848Lys)
c.2526C>A (p.Asn842Lys)
c.2265C>A (p.Asn755Lys)
c.609C>A
c.2676C>A (p.Asn892Lys)
c.2658C>A (p.Asn886Lys)
c.2337C>A (p.Asn779Lys)
c.2205C>A (p.Asn735Lys)
c.2202C>A (p.Asn734Lys)
c.2286C>A (p.Asn762Lys)
c.2217C>A (p.Asn739Lys)
c.1200C>A (p.Asn400Lys)

Number of alleles fetched