Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55693152T>ACA385181486ITGA7c.*2325A>T (n.*2325A>T)
c.1372A>T
n.2116A>T
c.2227A>T (p.Ile743Phe)
c.2713A>T (p.Ile905Phe)
c.*2412A>T (n.*2412A>T)
n.807A>T
c.*1185A>T (n.*1185A>T)
c.1514A>T
c.2652+61A>T (n.2652+61A>T)
c.2701A>T (p.Ile901Phe)
c.2683A>T (p.Ile895Phe)
c.2422A>T (p.Ile808Phe)
c.766A>T
c.2833A>T (p.Ile945Phe)
c.2815A>T (p.Ile939Phe)
c.2494A>T (p.Ile832Phe)
c.2362A>T (p.Ile788Phe)
c.2359A>T (p.Ile787Phe)
c.2443A>T (p.Ile815Phe)
c.2374A>T (p.Ile792Phe)
c.1357A>T (p.Ile453Phe)
12g.55693152T>CCA205510ITGA7c.*2325A>G (n.*2325A>G)
c.1372A>G
n.2116A>G
c.2227A>G (p.Ile743Val)
c.2713A>G (p.Ile905Val)
c.*2412A>G (n.*2412A>G)
n.807A>G
c.*1185A>G (n.*1185A>G)
c.1514A>G
c.2652+61A>G (n.2652+61A>G)
c.2701A>G (p.Ile901Val)
c.2683A>G (p.Ile895Val)
c.2422A>G (p.Ile808Val)
c.766A>G
c.2833A>G (p.Ile945Val)
c.2815A>G (p.Ile939Val)
c.2494A>G (p.Ile832Val)
c.2362A>G (p.Ile788Val)
c.2359A>G (p.Ile787Val)
c.2443A>G (p.Ile815Val)
c.2374A>G (p.Ile792Val)
c.1357A>G (p.Ile453Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693152T>GCA385181487ITGA7c.*2325A>C (n.*2325A>C)
c.1372A>C
n.2116A>C
c.2227A>C (p.Ile743Leu)
c.2713A>C (p.Ile905Leu)
c.*2412A>C (n.*2412A>C)
n.807A>C
c.*1185A>C (n.*1185A>C)
c.1514A>C
c.2652+61A>C (n.2652+61A>C)
c.2701A>C (p.Ile901Leu)
c.2683A>C (p.Ile895Leu)
c.2422A>C (p.Ile808Leu)
c.766A>C
c.2833A>C (p.Ile945Leu)
c.2815A>C (p.Ile939Leu)
c.2494A>C (p.Ile832Leu)
c.2362A>C (p.Ile788Leu)
c.2359A>C (p.Ile787Leu)
c.2443A>C (p.Ile815Leu)
c.2374A>C (p.Ile792Leu)
c.1357A>C (p.Ile453Leu)
12g.55693152T=CA2038035669ITGA7c.*2325A= (n.*2325A=)
c.1372A=
n.2116A=
c.2227A= (p.Ile743=)
c.2713A= (p.Ile905=)
c.*2412A= (n.*2412A=)
n.807A=
c.*1185A= (n.*1185A=)
c.1514A=
c.2652+61A= (n.2652+61A=)
c.2701A= (p.Ile901=)
c.2683A= (p.Ile895=)
c.2422A= (p.Ile808=)
c.766A=
c.2833A= (p.Ile945=)
c.2815A= (p.Ile939=)
c.2494A= (p.Ile832=)
c.2362A= (p.Ile788=)
c.2359A= (p.Ile787=)
c.2443A= (p.Ile815=)
c.2374A= (p.Ile792=)
c.1357A= (p.Ile453=)
12g.55693153G>ACA480145175ITGA7c.*2324C>T (n.*2324C>T)
c.1371C>T
n.2115C>T
c.2226C>T (p.Asn742=)
c.2712C>T (p.Asn904=)
c.*2411C>T (n.*2411C>T)
n.806C>T
c.*1184C>T (n.*1184C>T)
c.1513C>T
c.2652+60C>T (n.2652+60C>T)
c.2700C>T (p.Asn900=)
c.2682C>T (p.Asn894=)
c.2421C>T (p.Asn807=)
c.765C>T
c.2832C>T (p.Asn944=)
c.2814C>T (p.Asn938=)
c.2493C>T (p.Asn831=)
c.2361C>T (p.Asn787=)
c.2358C>T (p.Asn786=)
c.2442C>T (p.Asn814=)
c.2373C>T (p.Asn791=)
c.1356C>T (p.Asn452=)
 dbSNP gnomAD v3 gnomAD v4
12g.55693153G>CCA385181488ITGA7c.*2324C>G (n.*2324C>G)
c.1371C>G
n.2115C>G
c.2226C>G (p.Asn742Lys)
c.2712C>G (p.Asn904Lys)
c.*2411C>G (n.*2411C>G)
n.806C>G
c.*1184C>G (n.*1184C>G)
c.1513C>G
c.2652+60C>G (n.2652+60C>G)
c.2700C>G (p.Asn900Lys)
c.2682C>G (p.Asn894Lys)
c.2421C>G (p.Asn807Lys)
c.765C>G
c.2832C>G (p.Asn944Lys)
c.2814C>G (p.Asn938Lys)
c.2493C>G (p.Asn831Lys)
c.2361C>G (p.Asn787Lys)
c.2358C>G (p.Asn786Lys)
c.2442C>G (p.Asn814Lys)
c.2373C>G (p.Asn791Lys)
c.1356C>G (p.Asn452Lys)
12g.55693153G>TCA385181489ITGA7c.*2324C>A (n.*2324C>A)
c.1371C>A
n.2115C>A
c.2226C>A (p.Asn742Lys)
c.2712C>A (p.Asn904Lys)
c.*2411C>A (n.*2411C>A)
n.806C>A
c.*1184C>A (n.*1184C>A)
c.1513C>A
c.2652+60C>A (n.2652+60C>A)
c.2700C>A (p.Asn900Lys)
c.2682C>A (p.Asn894Lys)
c.2421C>A (p.Asn807Lys)
c.765C>A
c.2832C>A (p.Asn944Lys)
c.2814C>A (p.Asn938Lys)
c.2493C>A (p.Asn831Lys)
c.2361C>A (p.Asn787Lys)
c.2358C>A (p.Asn786Lys)
c.2442C>A (p.Asn814Lys)
c.2373C>A (p.Asn791Lys)
c.1356C>A (p.Asn452Lys)
12g.55693154T>ACA385181490ITGA7c.*2323A>T (n.*2323A>T)
c.1370A>T
n.2114A>T
c.2225A>T (p.Asn742Ile)
c.2711A>T (p.Asn904Ile)
c.*2410A>T (n.*2410A>T)
n.805A>T
c.*1183A>T (n.*1183A>T)
c.1512A>T
c.2652+59A>T (n.2652+59A>T)
c.2699A>T (p.Asn900Ile)
c.2681A>T (p.Asn894Ile)
c.2420A>T (p.Asn807Ile)
c.764A>T
c.2831A>T (p.Asn944Ile)
c.2813A>T (p.Asn938Ile)
c.2492A>T (p.Asn831Ile)
c.2360A>T (p.Asn787Ile)
c.2357A>T (p.Asn786Ile)
c.2441A>T (p.Asn814Ile)
c.2372A>T (p.Asn791Ile)
c.1355A>T (p.Asn452Ile)
12g.55693154T>CCA385181491ITGA7c.*2323A>G (n.*2323A>G)
c.1370A>G
n.2114A>G
c.2225A>G (p.Asn742Ser)
c.2711A>G (p.Asn904Ser)
c.*2410A>G (n.*2410A>G)
n.805A>G
c.*1183A>G (n.*1183A>G)
c.1512A>G
c.2652+59A>G (n.2652+59A>G)
c.2699A>G (p.Asn900Ser)
c.2681A>G (p.Asn894Ser)
c.2420A>G (p.Asn807Ser)
c.764A>G
c.2831A>G (p.Asn944Ser)
c.2813A>G (p.Asn938Ser)
c.2492A>G (p.Asn831Ser)
c.2360A>G (p.Asn787Ser)
c.2357A>G (p.Asn786Ser)
c.2441A>G (p.Asn814Ser)
c.2372A>G (p.Asn791Ser)
c.1355A>G (p.Asn452Ser)
 ClinVar gnomAD v4
12g.55693154T>GCA385181492ITGA7c.*2323A>C (n.*2323A>C)
c.1370A>C
n.2114A>C
c.2225A>C (p.Asn742Thr)
c.2711A>C (p.Asn904Thr)
c.*2410A>C (n.*2410A>C)
n.805A>C
c.*1183A>C (n.*1183A>C)
c.1512A>C
c.2652+59A>C (n.2652+59A>C)
c.2699A>C (p.Asn900Thr)
c.2681A>C (p.Asn894Thr)
c.2420A>C (p.Asn807Thr)
c.764A>C
c.2831A>C (p.Asn944Thr)
c.2813A>C (p.Asn938Thr)
c.2492A>C (p.Asn831Thr)
c.2360A>C (p.Asn787Thr)
c.2357A>C (p.Asn786Thr)
c.2441A>C (p.Asn814Thr)
c.2372A>C (p.Asn791Thr)
c.1355A>C (p.Asn452Thr)
12g.55693155T>ACA385181493ITGA7c.*2322A>T (n.*2322A>T)
c.1369A>T
n.2113A>T
c.2224A>T (p.Asn742Tyr)
c.2710A>T (p.Asn904Tyr)
c.*2409A>T (n.*2409A>T)
n.804A>T
c.*1182A>T (n.*1182A>T)
c.1511A>T
c.2652+58A>T (n.2652+58A>T)
c.2698A>T (p.Asn900Tyr)
c.2680A>T (p.Asn894Tyr)
c.2419A>T (p.Asn807Tyr)
c.763A>T
c.2830A>T (p.Asn944Tyr)
c.2812A>T (p.Asn938Tyr)
c.2491A>T (p.Asn831Tyr)
c.2359A>T (p.Asn787Tyr)
c.2356A>T (p.Asn786Tyr)
c.2440A>T (p.Asn814Tyr)
c.2371A>T (p.Asn791Tyr)
c.1354A>T (p.Asn452Tyr)
12g.55693155T>CCA385181494ITGA7c.*2322A>G (n.*2322A>G)
c.1369A>G
n.2113A>G
c.2224A>G (p.Asn742Asp)
c.2710A>G (p.Asn904Asp)
c.*2409A>G (n.*2409A>G)
n.804A>G
c.*1182A>G (n.*1182A>G)
c.1511A>G
c.2652+58A>G (n.2652+58A>G)
c.2698A>G (p.Asn900Asp)
c.2680A>G (p.Asn894Asp)
c.2419A>G (p.Asn807Asp)
c.763A>G
c.2830A>G (p.Asn944Asp)
c.2812A>G (p.Asn938Asp)
c.2491A>G (p.Asn831Asp)
c.2359A>G (p.Asn787Asp)
c.2356A>G (p.Asn786Asp)
c.2440A>G (p.Asn814Asp)
c.2371A>G (p.Asn791Asp)
c.1354A>G (p.Asn452Asp)
12g.55693155T>GCA385181495ITGA7c.*2322A>C (n.*2322A>C)
c.1369A>C
n.2113A>C
c.2224A>C (p.Asn742His)
c.2710A>C (p.Asn904His)
c.*2409A>C (n.*2409A>C)
n.804A>C
c.*1182A>C (n.*1182A>C)
c.1511A>C
c.2652+58A>C (n.2652+58A>C)
c.2698A>C (p.Asn900His)
c.2680A>C (p.Asn894His)
c.2419A>C (p.Asn807His)
c.763A>C
c.2830A>C (p.Asn944His)
c.2812A>C (p.Asn938His)
c.2491A>C (p.Asn831His)
c.2359A>C (p.Asn787His)
c.2356A>C (p.Asn786His)
c.2440A>C (p.Asn814His)
c.2371A>C (p.Asn791His)
c.1354A>C (p.Asn452His)
12g.55693156G>ACA480145188ITGA7c.*2321C>T (n.*2321C>T)
c.1368C>T
n.2112C>T
c.2223C>T (p.Pro741=)
c.2709C>T (p.Pro903=)
c.*2408C>T (n.*2408C>T)
n.803C>T
c.*1181C>T (n.*1181C>T)
c.1510C>T
c.2652+57C>T (n.2652+57C>T)
c.2697C>T (p.Pro899=)
c.2679C>T (p.Pro893=)
c.2418C>T (p.Pro806=)
c.762C>T
c.2829C>T (p.Pro943=)
c.2811C>T (p.Pro937=)
c.2490C>T (p.Pro830=)
c.2358C>T (p.Pro786=)
c.2355C>T (p.Pro785=)
c.2439C>T (p.Pro813=)
c.2370C>T (p.Pro790=)
c.1353C>T (p.Pro451=)
 dbSNP
12g.55693156G>CCA480145184ITGA7c.*2321C>G (n.*2321C>G)
c.1368C>G
n.2112C>G
c.2223C>G (p.Pro741=)
c.2709C>G (p.Pro903=)
c.*2408C>G (n.*2408C>G)
n.803C>G
c.*1181C>G (n.*1181C>G)
c.1510C>G
c.2652+57C>G (n.2652+57C>G)
c.2697C>G (p.Pro899=)
c.2679C>G (p.Pro893=)
c.2418C>G (p.Pro806=)
c.762C>G
c.2829C>G (p.Pro943=)
c.2811C>G (p.Pro937=)
c.2490C>G (p.Pro830=)
c.2358C>G (p.Pro786=)
c.2355C>G (p.Pro785=)
c.2439C>G (p.Pro813=)
c.2370C>G (p.Pro790=)
c.1353C>G (p.Pro451=)
12g.55693156G=CA2038035680ITGA7c.*2321C= (n.*2321C=)
c.1368C=
n.2112C=
c.2223C= (p.Pro741=)
c.2709C= (p.Pro903=)
c.*2408C= (n.*2408C=)
n.803C=
c.*1181C= (n.*1181C=)
c.1510C=
c.2652+57C= (n.2652+57C=)
c.2697C= (p.Pro899=)
c.2679C= (p.Pro893=)
c.2418C= (p.Pro806=)
c.762C=
c.2829C= (p.Pro943=)
c.2811C= (p.Pro937=)
c.2490C= (p.Pro830=)
c.2358C= (p.Pro786=)
c.2355C= (p.Pro785=)
c.2439C= (p.Pro813=)
c.2370C= (p.Pro790=)
c.1353C= (p.Pro451=)
12g.55693156G>TCA480145186ITGA7c.*2321C>A (n.*2321C>A)
c.1368C>A
n.2112C>A
c.2223C>A (p.Pro741=)
c.2709C>A (p.Pro903=)
c.*2408C>A (n.*2408C>A)
n.803C>A
c.*1181C>A (n.*1181C>A)
c.1510C>A
c.2652+57C>A (n.2652+57C>A)
c.2697C>A (p.Pro899=)
c.2679C>A (p.Pro893=)
c.2418C>A (p.Pro806=)
c.762C>A
c.2829C>A (p.Pro943=)
c.2811C>A (p.Pro937=)
c.2490C>A (p.Pro830=)
c.2358C>A (p.Pro786=)
c.2355C>A (p.Pro785=)
c.2439C>A (p.Pro813=)
c.2370C>A (p.Pro790=)
c.1353C>A (p.Pro451=)
12g.55693157G>ACA385181496ITGA7c.*2320C>T (n.*2320C>T)
c.1367C>T
n.2111C>T
c.2222C>T (p.Pro741Leu)
c.2708C>T (p.Pro903Leu)
c.*2407C>T (n.*2407C>T)
n.802C>T
c.*1180C>T (n.*1180C>T)
c.1509C>T
c.2652+56C>T (n.2652+56C>T)
c.2696C>T (p.Pro899Leu)
c.2678C>T (p.Pro893Leu)
c.2417C>T (p.Pro806Leu)
c.761C>T
c.2828C>T (p.Pro943Leu)
c.2810C>T (p.Pro937Leu)
c.2489C>T (p.Pro830Leu)
c.2357C>T (p.Pro786Leu)
c.2354C>T (p.Pro785Leu)
c.2438C>T (p.Pro813Leu)
c.2369C>T (p.Pro790Leu)
c.1352C>T (p.Pro451Leu)
12g.55693157G>CCA385181498ITGA7c.*2320C>G (n.*2320C>G)
c.1367C>G
n.2111C>G
c.2222C>G (p.Pro741Arg)
c.2708C>G (p.Pro903Arg)
c.*2407C>G (n.*2407C>G)
n.802C>G
c.*1180C>G (n.*1180C>G)
c.1509C>G
c.2652+56C>G (n.2652+56C>G)
c.2696C>G (p.Pro899Arg)
c.2678C>G (p.Pro893Arg)
c.2417C>G (p.Pro806Arg)
c.761C>G
c.2828C>G (p.Pro943Arg)
c.2810C>G (p.Pro937Arg)
c.2489C>G (p.Pro830Arg)
c.2357C>G (p.Pro786Arg)
c.2354C>G (p.Pro785Arg)
c.2438C>G (p.Pro813Arg)
c.2369C>G (p.Pro790Arg)
c.1352C>G (p.Pro451Arg)
12g.55693157G>TCA385181497ITGA7c.*2320C>A (n.*2320C>A)
c.1367C>A
n.2111C>A
c.2222C>A (p.Pro741His)
c.2708C>A (p.Pro903His)
c.*2407C>A (n.*2407C>A)
n.802C>A
c.*1180C>A (n.*1180C>A)
c.1509C>A
c.2652+56C>A (n.2652+56C>A)
c.2696C>A (p.Pro899His)
c.2678C>A (p.Pro893His)
c.2417C>A (p.Pro806His)
c.761C>A
c.2828C>A (p.Pro943His)
c.2810C>A (p.Pro937His)
c.2489C>A (p.Pro830His)
c.2357C>A (p.Pro786His)
c.2354C>A (p.Pro785His)
c.2438C>A (p.Pro813His)
c.2369C>A (p.Pro790His)
c.1352C>A (p.Pro451His)
12g.55693158G>ACA385181499ITGA7c.*2319C>T (n.*2319C>T)
c.1366C>T
n.2110C>T
c.2221C>T (p.Pro741Ser)
c.2707C>T (p.Pro903Ser)
c.*2406C>T (n.*2406C>T)
n.801C>T
c.*1179C>T (n.*1179C>T)
c.1508C>T
c.2652+55C>T (n.2652+55C>T)
c.2695C>T (p.Pro899Ser)
c.2677C>T (p.Pro893Ser)
c.2416C>T (p.Pro806Ser)
c.760C>T
c.2827C>T (p.Pro943Ser)
c.2809C>T (p.Pro937Ser)
c.2488C>T (p.Pro830Ser)
c.2356C>T (p.Pro786Ser)
c.2353C>T (p.Pro785Ser)
c.2437C>T (p.Pro813Ser)
c.2368C>T (p.Pro790Ser)
c.1351C>T (p.Pro451Ser)
12g.55693158G>CCA385181500ITGA7c.*2319C>G (n.*2319C>G)
c.1366C>G
n.2110C>G
c.2221C>G (p.Pro741Ala)
c.2707C>G (p.Pro903Ala)
c.*2406C>G (n.*2406C>G)
n.801C>G
c.*1179C>G (n.*1179C>G)
c.1508C>G
c.2652+55C>G (n.2652+55C>G)
c.2695C>G (p.Pro899Ala)
c.2677C>G (p.Pro893Ala)
c.2416C>G (p.Pro806Ala)
c.760C>G
c.2827C>G (p.Pro943Ala)
c.2809C>G (p.Pro937Ala)
c.2488C>G (p.Pro830Ala)
c.2356C>G (p.Pro786Ala)
c.2353C>G (p.Pro785Ala)
c.2437C>G (p.Pro813Ala)
c.2368C>G (p.Pro790Ala)
c.1351C>G (p.Pro451Ala)
 gnomAD v4
12g.55693158G>TCA385181501ITGA7c.*2319C>A (n.*2319C>A)
c.1366C>A
n.2110C>A
c.2221C>A (p.Pro741Thr)
c.2707C>A (p.Pro903Thr)
c.*2406C>A (n.*2406C>A)
n.801C>A
c.*1179C>A (n.*1179C>A)
c.1508C>A
c.2652+55C>A (n.2652+55C>A)
c.2695C>A (p.Pro899Thr)
c.2677C>A (p.Pro893Thr)
c.2416C>A (p.Pro806Thr)
c.760C>A
c.2827C>A (p.Pro943Thr)
c.2809C>A (p.Pro937Thr)
c.2488C>A (p.Pro830Thr)
c.2356C>A (p.Pro786Thr)
c.2353C>A (p.Pro785Thr)
c.2437C>A (p.Pro813Thr)
c.2368C>A (p.Pro790Thr)
c.1351C>A (p.Pro451Thr)
12g.55693159C>ACA385181502ITGA7c.*2318G>T (n.*2318G>T)
c.1365G>T
n.2109G>T
c.2220G>T (p.Arg740Ser)
c.2706G>T (p.Arg902Ser)
c.*2405G>T (n.*2405G>T)
n.800G>T
c.*1178G>T (n.*1178G>T)
c.1507G>T
c.2652+54G>T (n.2652+54G>T)
c.2694G>T (p.Arg898Ser)
c.2676G>T (p.Arg892Ser)
c.2415G>T (p.Arg805Ser)
c.759G>T
c.2826G>T (p.Arg942Ser)
c.2808G>T (p.Arg936Ser)
c.2487G>T (p.Arg829Ser)
c.2355G>T (p.Arg785Ser)
c.2352G>T (p.Arg784Ser)
c.2436G>T (p.Arg812Ser)
c.2367G>T (p.Arg789Ser)
c.1350G>T (p.Arg450Ser)
12g.55693159C=CA2038035685ITGA7c.*2318G= (n.*2318G=)
c.1365G=
n.2109G=
c.2220G= (p.Arg740=)
c.2706G= (p.Arg902=)
c.*2405G= (n.*2405G=)
n.800G=
c.*1178G= (n.*1178G=)
c.1507G=
c.2652+54G= (n.2652+54G=)
c.2694G= (p.Arg898=)
c.2676G= (p.Arg892=)
c.2415G= (p.Arg805=)
c.759G=
c.2826G= (p.Arg942=)
c.2808G= (p.Arg936=)
c.2487G= (p.Arg829=)
c.2355G= (p.Arg785=)
c.2352G= (p.Arg784=)
c.2436G= (p.Arg812=)
c.2367G= (p.Arg789=)
c.1350G= (p.Arg450=)
12g.55693159C>GCA385181503ITGA7c.*2318G>C (n.*2318G>C)
c.1365G>C
n.2109G>C
c.2220G>C (p.Arg740Ser)
c.2706G>C (p.Arg902Ser)
c.*2405G>C (n.*2405G>C)
n.800G>C
c.*1178G>C (n.*1178G>C)
c.1507G>C
c.2652+54G>C (n.2652+54G>C)
c.2694G>C (p.Arg898Ser)
c.2676G>C (p.Arg892Ser)
c.2415G>C (p.Arg805Ser)
c.759G>C
c.2826G>C (p.Arg942Ser)
c.2808G>C (p.Arg936Ser)
c.2487G>C (p.Arg829Ser)
c.2355G>C (p.Arg785Ser)
c.2352G>C (p.Arg784Ser)
c.2436G>C (p.Arg812Ser)
c.2367G>C (p.Arg789Ser)
c.1350G>C (p.Arg450Ser)
12g.55693159C>TCA480145196ITGA7c.*2318G>A (n.*2318G>A)
c.1365G>A
n.2109G>A
c.2220G>A (p.Arg740=)
c.2706G>A (p.Arg902=)
c.*2405G>A (n.*2405G>A)
n.800G>A
c.*1178G>A (n.*1178G>A)
c.1507G>A
c.2652+54G>A (n.2652+54G>A)
c.2694G>A (p.Arg898=)
c.2676G>A (p.Arg892=)
c.2415G>A (p.Arg805=)
c.759G>A
c.2826G>A (p.Arg942=)
c.2808G>A (p.Arg936=)
c.2487G>A (p.Arg829=)
c.2355G>A (p.Arg785=)
c.2352G>A (p.Arg784=)
c.2436G>A (p.Arg812=)
c.2367G>A (p.Arg789=)
c.1350G>A (p.Arg450=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693160C>ACA385181504ITGA7c.*2317G>T (n.*2317G>T)
c.1364G>T
n.2108G>T
c.2219G>T (p.Arg740Met)
c.2705G>T (p.Arg902Met)
c.*2404G>T (n.*2404G>T)
n.799G>T
c.*1177G>T (n.*1177G>T)
c.1506G>T
c.2652+53G>T (n.2652+53G>T)
c.2693G>T (p.Arg898Met)
c.2675G>T (p.Arg892Met)
c.2414G>T (p.Arg805Met)
c.758G>T
c.2825G>T (p.Arg942Met)
c.2807G>T (p.Arg936Met)
c.2486G>T (p.Arg829Met)
c.2354G>T (p.Arg785Met)
c.2351G>T (p.Arg784Met)
c.2435G>T (p.Arg812Met)
c.2366G>T (p.Arg789Met)
c.1349G>T (p.Arg450Met)
12g.55693160C>GCA385181506ITGA7c.*2317G>C (n.*2317G>C)
c.1364G>C
n.2108G>C
c.2219G>C (p.Arg740Thr)
c.2705G>C (p.Arg902Thr)
c.*2404G>C (n.*2404G>C)
n.799G>C
c.*1177G>C (n.*1177G>C)
c.1506G>C
c.2652+53G>C (n.2652+53G>C)
c.2693G>C (p.Arg898Thr)
c.2675G>C (p.Arg892Thr)
c.2414G>C (p.Arg805Thr)
c.758G>C
c.2825G>C (p.Arg942Thr)
c.2807G>C (p.Arg936Thr)
c.2486G>C (p.Arg829Thr)
c.2354G>C (p.Arg785Thr)
c.2351G>C (p.Arg784Thr)
c.2435G>C (p.Arg812Thr)
c.2366G>C (p.Arg789Thr)
c.1349G>C (p.Arg450Thr)
12g.55693160C>TCA385181505ITGA7c.*2317G>A (n.*2317G>A)
c.1364G>A
n.2108G>A
c.2219G>A (p.Arg740Lys)
c.2705G>A (p.Arg902Lys)
c.*2404G>A (n.*2404G>A)
n.799G>A
c.*1177G>A (n.*1177G>A)
c.1506G>A
c.2652+53G>A (n.2652+53G>A)
c.2693G>A (p.Arg898Lys)
c.2675G>A (p.Arg892Lys)
c.2414G>A (p.Arg805Lys)
c.758G>A
c.2825G>A (p.Arg942Lys)
c.2807G>A (p.Arg936Lys)
c.2486G>A (p.Arg829Lys)
c.2354G>A (p.Arg785Lys)
c.2351G>A (p.Arg784Lys)
c.2435G>A (p.Arg812Lys)
c.2366G>A (p.Arg789Lys)
c.1349G>A (p.Arg450Lys)
12g.55693161T>ACA385181507ITGA7c.*2316A>T (n.*2316A>T)
c.1363A>T
n.2107A>T
c.2218A>T (p.Arg740Trp)
c.2704A>T (p.Arg902Trp)
c.*2403A>T (n.*2403A>T)
n.798A>T
c.*1176A>T (n.*1176A>T)
c.1505A>T
c.2652+52A>T (n.2652+52A>T)
c.2692A>T (p.Arg898Trp)
c.2674A>T (p.Arg892Trp)
c.2413A>T (p.Arg805Trp)
c.757A>T
c.2824A>T (p.Arg942Trp)
c.2806A>T (p.Arg936Trp)
c.2485A>T (p.Arg829Trp)
c.2353A>T (p.Arg785Trp)
c.2350A>T (p.Arg784Trp)
c.2434A>T (p.Arg812Trp)
c.2365A>T (p.Arg789Trp)
c.1348A>T (p.Arg450Trp)
12g.55693161T>CCA385181508ITGA7c.*2316A>G (n.*2316A>G)
c.1363A>G
n.2107A>G
c.2218A>G (p.Arg740Gly)
c.2704A>G (p.Arg902Gly)
c.*2403A>G (n.*2403A>G)
n.798A>G
c.*1176A>G (n.*1176A>G)
c.1505A>G
c.2652+52A>G (n.2652+52A>G)
c.2692A>G (p.Arg898Gly)
c.2674A>G (p.Arg892Gly)
c.2413A>G (p.Arg805Gly)
c.757A>G
c.2824A>G (p.Arg942Gly)
c.2806A>G (p.Arg936Gly)
c.2485A>G (p.Arg829Gly)
c.2353A>G (p.Arg785Gly)
c.2350A>G (p.Arg784Gly)
c.2434A>G (p.Arg812Gly)
c.2365A>G (p.Arg789Gly)
c.1348A>G (p.Arg450Gly)
12g.55693161T>GCA480145200ITGA7c.*2316A>C (n.*2316A>C)
c.1363A>C
n.2107A>C
c.2218A>C (p.Arg740=)
c.2704A>C (p.Arg902=)
c.*2403A>C (n.*2403A>C)
n.798A>C
c.*1176A>C (n.*1176A>C)
c.1505A>C
c.2652+52A>C (n.2652+52A>C)
c.2692A>C (p.Arg898=)
c.2674A>C (p.Arg892=)
c.2413A>C (p.Arg805=)
c.757A>C
c.2824A>C (p.Arg942=)
c.2806A>C (p.Arg936=)
c.2485A>C (p.Arg829=)
c.2353A>C (p.Arg785=)
c.2350A>C (p.Arg784=)
c.2434A>C (p.Arg812=)
c.2365A>C (p.Arg789=)
c.1348A>C (p.Arg450=)
12g.55693161T=CA2038035695ITGA7c.*2316A= (n.*2316A=)
c.1363A=
n.2107A=
c.2218A= (p.Arg740=)
c.2704A= (p.Arg902=)
c.*2403A= (n.*2403A=)
n.798A=
c.*1176A= (n.*1176A=)
c.1505A=
c.2652+52A= (n.2652+52A=)
c.2692A= (p.Arg898=)
c.2674A= (p.Arg892=)
c.2413A= (p.Arg805=)
c.757A=
c.2824A= (p.Arg942=)
c.2806A= (p.Arg936=)
c.2485A= (p.Arg829=)
c.2353A= (p.Arg785=)
c.2350A= (p.Arg784=)
c.2434A= (p.Arg812=)
c.2365A= (p.Arg789=)
c.1348A= (p.Arg450=)
12g.55693162G>ACA480145203ITGA7c.*2315C>T (n.*2315C>T)
c.1362C>T
n.2106C>T
c.2217C>T (p.Pro739=)
c.2703C>T (p.Pro901=)
c.*2402C>T (n.*2402C>T)
n.797C>T
c.*1175C>T (n.*1175C>T)
c.1504C>T
c.2652+51C>T (n.2652+51C>T)
c.2691C>T (p.Pro897=)
c.2673C>T (p.Pro891=)
c.2412C>T (p.Pro804=)
c.756C>T
c.2823C>T (p.Pro941=)
c.2805C>T (p.Pro935=)
c.2484C>T (p.Pro828=)
c.2352C>T (p.Pro784=)
c.2349C>T (p.Pro783=)
c.2433C>T (p.Pro811=)
c.2364C>T (p.Pro788=)
c.1347C>T (p.Pro449=)
12g.55693162G>CCA480145204ITGA7c.*2315C>G (n.*2315C>G)
c.1362C>G
n.2106C>G
c.2217C>G (p.Pro739=)
c.2703C>G (p.Pro901=)
c.*2402C>G (n.*2402C>G)
n.797C>G
c.*1175C>G (n.*1175C>G)
c.1504C>G
c.2652+51C>G (n.2652+51C>G)
c.2691C>G (p.Pro897=)
c.2673C>G (p.Pro891=)
c.2412C>G (p.Pro804=)
c.756C>G
c.2823C>G (p.Pro941=)
c.2805C>G (p.Pro935=)
c.2484C>G (p.Pro828=)
c.2352C>G (p.Pro784=)
c.2349C>G (p.Pro783=)
c.2433C>G (p.Pro811=)
c.2364C>G (p.Pro788=)
c.1347C>G (p.Pro449=)
12g.55693162G>TCA480145205ITGA7c.*2315C>A (n.*2315C>A)
c.1362C>A
n.2106C>A
c.2217C>A (p.Pro739=)
c.2703C>A (p.Pro901=)
c.*2402C>A (n.*2402C>A)
n.797C>A
c.*1175C>A (n.*1175C>A)
c.1504C>A
c.2652+51C>A (n.2652+51C>A)
c.2691C>A (p.Pro897=)
c.2673C>A (p.Pro891=)
c.2412C>A (p.Pro804=)
c.756C>A
c.2823C>A (p.Pro941=)
c.2805C>A (p.Pro935=)
c.2484C>A (p.Pro828=)
c.2352C>A (p.Pro784=)
c.2349C>A (p.Pro783=)
c.2433C>A (p.Pro811=)
c.2364C>A (p.Pro788=)
c.1347C>A (p.Pro449=)
12g.55693164dupCA6615508ITGA7c.*2315dup (n.*2315dup)
c.1362dup
n.2106dup
c.2217dup (p.Arg740GlnfsTer12)
c.2703dup (p.Arg902GlnfsTer12)
c.*2402dup (n.*2402dup)
n.797dup
c.*1175dup (n.*1175dup)
c.1504dup
c.2652+51dup (n.2652+51dup)
c.2691dup (p.Arg898GlnfsTer12)
c.2673dup (p.Arg892GlnfsTer12)
c.2412dup (p.Arg805GlnfsTer12)
c.756dup
c.2823dup (p.Arg942GlnfsTer12)
c.2805dup (p.Arg936GlnfsTer12)
c.2484dup (p.Arg829GlnfsTer12)
c.2352dup (p.Arg785GlnfsTer12)
c.2349dup (p.Arg784GlnfsTer12)
c.2433dup (p.Arg812GlnfsTer12)
c.2364dup (p.Arg789GlnfsTer12)
c.1347dup (p.Arg450GlnfsTer12)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693163G>ACA385181509ITGA7c.*2314C>T (n.*2314C>T)
c.1361C>T
n.2105C>T
c.2216C>T (p.Pro739Leu)
c.2702C>T (p.Pro901Leu)
c.*2401C>T (n.*2401C>T)
n.796C>T
c.*1174C>T (n.*1174C>T)
c.1503C>T
c.2652+50C>T (n.2652+50C>T)
c.2690C>T (p.Pro897Leu)
c.2672C>T (p.Pro891Leu)
c.2411C>T (p.Pro804Leu)
c.755C>T
c.2822C>T (p.Pro941Leu)
c.2804C>T (p.Pro935Leu)
c.2483C>T (p.Pro828Leu)
c.2351C>T (p.Pro784Leu)
c.2348C>T (p.Pro783Leu)
c.2432C>T (p.Pro811Leu)
c.2363C>T (p.Pro788Leu)
c.1346C>T (p.Pro449Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693163G>CCA385181510ITGA7c.*2314C>G (n.*2314C>G)
c.1361C>G
n.2105C>G
c.2216C>G (p.Pro739Arg)
c.2702C>G (p.Pro901Arg)
c.*2401C>G (n.*2401C>G)
n.796C>G
c.*1174C>G (n.*1174C>G)
c.1503C>G
c.2652+50C>G (n.2652+50C>G)
c.2690C>G (p.Pro897Arg)
c.2672C>G (p.Pro891Arg)
c.2411C>G (p.Pro804Arg)
c.755C>G
c.2822C>G (p.Pro941Arg)
c.2804C>G (p.Pro935Arg)
c.2483C>G (p.Pro828Arg)
c.2351C>G (p.Pro784Arg)
c.2348C>G (p.Pro783Arg)
c.2432C>G (p.Pro811Arg)
c.2363C>G (p.Pro788Arg)
c.1346C>G (p.Pro449Arg)
12g.55693163G=CA2038035711ITGA7c.*2314C= (n.*2314C=)
c.1361C=
n.2105C=
c.2216C= (p.Pro739=)
c.2702C= (p.Pro901=)
c.*2401C= (n.*2401C=)
n.796C=
c.*1174C= (n.*1174C=)
c.1503C=
c.2652+50C= (n.2652+50C=)
c.2690C= (p.Pro897=)
c.2672C= (p.Pro891=)
c.2411C= (p.Pro804=)
c.755C=
c.2822C= (p.Pro941=)
c.2804C= (p.Pro935=)
c.2483C= (p.Pro828=)
c.2351C= (p.Pro784=)
c.2348C= (p.Pro783=)
c.2432C= (p.Pro811=)
c.2363C= (p.Pro788=)
c.1346C= (p.Pro449=)
12g.55693163G>TCA385181511ITGA7c.*2314C>A (n.*2314C>A)
c.1361C>A
n.2105C>A
c.2216C>A (p.Pro739His)
c.2702C>A (p.Pro901His)
c.*2401C>A (n.*2401C>A)
n.796C>A
c.*1174C>A (n.*1174C>A)
c.1503C>A
c.2652+50C>A (n.2652+50C>A)
c.2690C>A (p.Pro897His)
c.2672C>A (p.Pro891His)
c.2411C>A (p.Pro804His)
c.755C>A
c.2822C>A (p.Pro941His)
c.2804C>A (p.Pro935His)
c.2483C>A (p.Pro828His)
c.2351C>A (p.Pro784His)
c.2348C>A (p.Pro783His)
c.2432C>A (p.Pro811His)
c.2363C>A (p.Pro788His)
c.1346C>A (p.Pro449His)
12g.55693164G>ACA6615509ITGA7c.*2313C>T (n.*2313C>T)
c.1360C>T
n.2104C>T
c.2215C>T (p.Pro739Ser)
c.2701C>T (p.Pro901Ser)
c.*2400C>T (n.*2400C>T)
n.795C>T
c.*1173C>T (n.*1173C>T)
c.1502C>T
c.2652+49C>T (n.2652+49C>T)
c.2689C>T (p.Pro897Ser)
c.2671C>T (p.Pro891Ser)
c.2410C>T (p.Pro804Ser)
c.754C>T
c.2821C>T (p.Pro941Ser)
c.2803C>T (p.Pro935Ser)
c.2482C>T (p.Pro828Ser)
c.2350C>T (p.Pro784Ser)
c.2347C>T (p.Pro783Ser)
c.2431C>T (p.Pro811Ser)
c.2362C>T (p.Pro788Ser)
c.1345C>T (p.Pro449Ser)
 dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693164G>CCA385181512ITGA7c.*2313C>G (n.*2313C>G)
c.1360C>G
n.2104C>G
c.2215C>G (p.Pro739Ala)
c.2701C>G (p.Pro901Ala)
c.*2400C>G (n.*2400C>G)
n.795C>G
c.*1173C>G (n.*1173C>G)
c.1502C>G
c.2652+49C>G (n.2652+49C>G)
c.2689C>G (p.Pro897Ala)
c.2671C>G (p.Pro891Ala)
c.2410C>G (p.Pro804Ala)
c.754C>G
c.2821C>G (p.Pro941Ala)
c.2803C>G (p.Pro935Ala)
c.2482C>G (p.Pro828Ala)
c.2350C>G (p.Pro784Ala)
c.2347C>G (p.Pro783Ala)
c.2431C>G (p.Pro811Ala)
c.2362C>G (p.Pro788Ala)
c.1345C>G (p.Pro449Ala)
12g.55693164G=CA2038035720ITGA7c.*2313C= (n.*2313C=)
c.1360C=
n.2104C=
c.2215C= (p.Pro739=)
c.2701C= (p.Pro901=)
c.*2400C= (n.*2400C=)
n.795C=
c.*1173C= (n.*1173C=)
c.1502C=
c.2652+49C= (n.2652+49C=)
c.2689C= (p.Pro897=)
c.2671C= (p.Pro891=)
c.2410C= (p.Pro804=)
c.754C=
c.2821C= (p.Pro941=)
c.2803C= (p.Pro935=)
c.2482C= (p.Pro828=)
c.2350C= (p.Pro784=)
c.2347C= (p.Pro783=)
c.2431C= (p.Pro811=)
c.2362C= (p.Pro788=)
c.1345C= (p.Pro449=)
12g.55693164G>TCA385181513ITGA7c.*2313C>A (n.*2313C>A)
c.1360C>A
n.2104C>A
c.2215C>A (p.Pro739Thr)
c.2701C>A (p.Pro901Thr)
c.*2400C>A (n.*2400C>A)
n.795C>A
c.*1173C>A (n.*1173C>A)
c.1502C>A
c.2652+49C>A (n.2652+49C>A)
c.2689C>A (p.Pro897Thr)
c.2671C>A (p.Pro891Thr)
c.2410C>A (p.Pro804Thr)
c.754C>A
c.2821C>A (p.Pro941Thr)
c.2803C>A (p.Pro935Thr)
c.2482C>A (p.Pro828Thr)
c.2350C>A (p.Pro784Thr)
c.2347C>A (p.Pro783Thr)
c.2431C>A (p.Pro811Thr)
c.2362C>A (p.Pro788Thr)
c.1345C>A (p.Pro449Thr)
12g.55693165A>CCA480145213ITGA7c.*2312T>G (n.*2312T>G)
c.1359T>G
n.2103T>G
c.2214T>G (p.Ser738=)
c.2700T>G (p.Ser900=)
c.*2399T>G (n.*2399T>G)
n.794T>G
c.*1172T>G (n.*1172T>G)
c.1501T>G
c.2652+48T>G (n.2652+48T>G)
c.2688T>G (p.Ser896=)
c.2670T>G (p.Ser890=)
c.2409T>G (p.Ser803=)
c.753T>G
c.2820T>G (p.Ser940=)
c.2802T>G (p.Ser934=)
c.2481T>G (p.Ser827=)
c.2349T>G (p.Ser783=)
c.2346T>G (p.Ser782=)
c.2430T>G (p.Ser810=)
c.2361T>G (p.Ser787=)
c.1344T>G (p.Ser448=)
12g.55693165A>GCA480145215ITGA7c.*2312T>C (n.*2312T>C)
c.1359T>C
n.2103T>C
c.2214T>C (p.Ser738=)
c.2700T>C (p.Ser900=)
c.*2399T>C (n.*2399T>C)
n.794T>C
c.*1172T>C (n.*1172T>C)
c.1501T>C
c.2652+48T>C (n.2652+48T>C)
c.2688T>C (p.Ser896=)
c.2670T>C (p.Ser890=)
c.2409T>C (p.Ser803=)
c.753T>C
c.2820T>C (p.Ser940=)
c.2802T>C (p.Ser934=)
c.2481T>C (p.Ser827=)
c.2349T>C (p.Ser783=)
c.2346T>C (p.Ser782=)
c.2430T>C (p.Ser810=)
c.2361T>C (p.Ser787=)
c.1344T>C (p.Ser448=)
12g.55693165A>TCA480145216ITGA7c.*2312T>A (n.*2312T>A)
c.1359T>A
n.2103T>A
c.2214T>A (p.Ser738=)
c.2700T>A (p.Ser900=)
c.*2399T>A (n.*2399T>A)
n.794T>A
c.*1172T>A (n.*1172T>A)
c.1501T>A
c.2652+48T>A (n.2652+48T>A)
c.2688T>A (p.Ser896=)
c.2670T>A (p.Ser890=)
c.2409T>A (p.Ser803=)
c.753T>A
c.2820T>A (p.Ser940=)
c.2802T>A (p.Ser934=)
c.2481T>A (p.Ser827=)
c.2349T>A (p.Ser783=)
c.2346T>A (p.Ser782=)
c.2430T>A (p.Ser810=)
c.2361T>A (p.Ser787=)
c.1344T>A (p.Ser448=)
12g.55693166G>ACA385181514ITGA7c.*2311C>T (n.*2311C>T)
c.1358C>T
n.2102C>T
c.2213C>T (p.Ser738Phe)
c.2699C>T (p.Ser900Phe)
c.*2398C>T (n.*2398C>T)
n.793C>T
c.*1171C>T (n.*1171C>T)
c.1500C>T
c.2652+47C>T (n.2652+47C>T)
c.2687C>T (p.Ser896Phe)
c.2669C>T (p.Ser890Phe)
c.2408C>T (p.Ser803Phe)
c.752C>T
c.2819C>T (p.Ser940Phe)
c.2801C>T (p.Ser934Phe)
c.2480C>T (p.Ser827Phe)
c.2348C>T (p.Ser783Phe)
c.2345C>T (p.Ser782Phe)
c.2429C>T (p.Ser810Phe)
c.2360C>T (p.Ser787Phe)
c.1343C>T (p.Ser448Phe)
 gnomAD v4
12g.55693166G>CCA385181515ITGA7c.*2311C>G (n.*2311C>G)
c.1358C>G
n.2102C>G
c.2213C>G (p.Ser738Cys)
c.2699C>G (p.Ser900Cys)
c.*2398C>G (n.*2398C>G)
n.793C>G
c.*1171C>G (n.*1171C>G)
c.1500C>G
c.2652+47C>G (n.2652+47C>G)
c.2687C>G (p.Ser896Cys)
c.2669C>G (p.Ser890Cys)
c.2408C>G (p.Ser803Cys)
c.752C>G
c.2819C>G (p.Ser940Cys)
c.2801C>G (p.Ser934Cys)
c.2480C>G (p.Ser827Cys)
c.2348C>G (p.Ser783Cys)
c.2345C>G (p.Ser782Cys)
c.2429C>G (p.Ser810Cys)
c.2360C>G (p.Ser787Cys)
c.1343C>G (p.Ser448Cys)
12g.55693166G=CA2038035728ITGA7c.*2311C= (n.*2311C=)
c.1358C=
n.2102C=
c.2213C= (p.Ser738=)
c.2699C= (p.Ser900=)
c.*2398C= (n.*2398C=)
n.793C=
c.*1171C= (n.*1171C=)
c.1500C=
c.2652+47C= (n.2652+47C=)
c.2687C= (p.Ser896=)
c.2669C= (p.Ser890=)
c.2408C= (p.Ser803=)
c.752C=
c.2819C= (p.Ser940=)
c.2801C= (p.Ser934=)
c.2480C= (p.Ser827=)
c.2348C= (p.Ser783=)
c.2345C= (p.Ser782=)
c.2429C= (p.Ser810=)
c.2360C= (p.Ser787=)
c.1343C= (p.Ser448=)
12g.55693166G>TCA385181516ITGA7c.*2311C>A (n.*2311C>A)
c.1358C>A
n.2102C>A
c.2213C>A (p.Ser738Tyr)
c.2699C>A (p.Ser900Tyr)
c.*2398C>A (n.*2398C>A)
n.793C>A
c.*1171C>A (n.*1171C>A)
c.1500C>A
c.2652+47C>A (n.2652+47C>A)
c.2687C>A (p.Ser896Tyr)
c.2669C>A (p.Ser890Tyr)
c.2408C>A (p.Ser803Tyr)
c.752C>A
c.2819C>A (p.Ser940Tyr)
c.2801C>A (p.Ser934Tyr)
c.2480C>A (p.Ser827Tyr)
c.2348C>A (p.Ser783Tyr)
c.2345C>A (p.Ser782Tyr)
c.2429C>A (p.Ser810Tyr)
c.2360C>A (p.Ser787Tyr)
c.1343C>A (p.Ser448Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.55693167A>CCA385181517ITGA7c.*2310T>G (n.*2310T>G)
c.1357T>G
n.2101T>G
c.2212T>G (p.Ser738Ala)
c.2698T>G (p.Ser900Ala)
c.*2397T>G (n.*2397T>G)
n.792T>G
c.*1170T>G (n.*1170T>G)
c.1499T>G
c.2652+46T>G (n.2652+46T>G)
c.2686T>G (p.Ser896Ala)
c.2668T>G (p.Ser890Ala)
c.2407T>G (p.Ser803Ala)
c.751T>G
c.2818T>G (p.Ser940Ala)
c.2800T>G (p.Ser934Ala)
c.2479T>G (p.Ser827Ala)
c.2347T>G (p.Ser783Ala)
c.2344T>G (p.Ser782Ala)
c.2428T>G (p.Ser810Ala)
c.2359T>G (p.Ser787Ala)
c.1342T>G (p.Ser448Ala)
12g.55693167A>GCA385181519ITGA7c.*2310T>C (n.*2310T>C)
c.1357T>C
n.2101T>C
c.2212T>C (p.Ser738Pro)
c.2698T>C (p.Ser900Pro)
c.*2397T>C (n.*2397T>C)
n.792T>C
c.*1170T>C (n.*1170T>C)
c.1499T>C
c.2652+46T>C (n.2652+46T>C)
c.2686T>C (p.Ser896Pro)
c.2668T>C (p.Ser890Pro)
c.2407T>C (p.Ser803Pro)
c.751T>C
c.2818T>C (p.Ser940Pro)
c.2800T>C (p.Ser934Pro)
c.2479T>C (p.Ser827Pro)
c.2347T>C (p.Ser783Pro)
c.2344T>C (p.Ser782Pro)
c.2428T>C (p.Ser810Pro)
c.2359T>C (p.Ser787Pro)
c.1342T>C (p.Ser448Pro)
 gnomAD v4
12g.55693167A>TCA385181518ITGA7c.*2310T>A (n.*2310T>A)
c.1357T>A
n.2101T>A
c.2212T>A (p.Ser738Thr)
c.2698T>A (p.Ser900Thr)
c.*2397T>A (n.*2397T>A)
n.792T>A
c.*1170T>A (n.*1170T>A)
c.1499T>A
c.2652+46T>A (n.2652+46T>A)
c.2686T>A (p.Ser896Thr)
c.2668T>A (p.Ser890Thr)
c.2407T>A (p.Ser803Thr)
c.751T>A
c.2818T>A (p.Ser940Thr)
c.2800T>A (p.Ser934Thr)
c.2479T>A (p.Ser827Thr)
c.2347T>A (p.Ser783Thr)
c.2344T>A (p.Ser782Thr)
c.2428T>A (p.Ser810Thr)
c.2359T>A (p.Ser787Thr)
c.1342T>A (p.Ser448Thr)
12g.55693168G>ACA6615510ITGA7c.*2309C>T (n.*2309C>T)
c.1356C>T
n.2100C>T
c.2211C>T (p.Cys737=)
c.2697C>T (p.Cys899=)
c.*2396C>T (n.*2396C>T)
n.791C>T
c.*1169C>T (n.*1169C>T)
c.1498C>T
c.2652+45C>T (n.2652+45C>T)
c.2685C>T (p.Cys895=)
c.2667C>T (p.Cys889=)
c.2406C>T (p.Cys802=)
c.750C>T
c.2817C>T (p.Cys939=)
c.2799C>T (p.Cys933=)
c.2478C>T (p.Cys826=)
c.2346C>T (p.Cys782=)
c.2343C>T (p.Cys781=)
c.2427C>T (p.Cys809=)
c.2358C>T (p.Cys786=)
c.1341C>T (p.Cys447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693168G>CCA385181520ITGA7c.*2309C>G (n.*2309C>G)
c.1356C>G
n.2100C>G
c.2211C>G (p.Cys737Trp)
c.2697C>G (p.Cys899Trp)
c.*2396C>G (n.*2396C>G)
n.791C>G
c.*1169C>G (n.*1169C>G)
c.1498C>G
c.2652+45C>G (n.2652+45C>G)
c.2685C>G (p.Cys895Trp)
c.2667C>G (p.Cys889Trp)
c.2406C>G (p.Cys802Trp)
c.750C>G
c.2817C>G (p.Cys939Trp)
c.2799C>G (p.Cys933Trp)
c.2478C>G (p.Cys826Trp)
c.2346C>G (p.Cys782Trp)
c.2343C>G (p.Cys781Trp)
c.2427C>G (p.Cys809Trp)
c.2358C>G (p.Cys786Trp)
c.1341C>G (p.Cys447Trp)
12g.55693168G=CA2038035730ITGA7c.*2309C= (n.*2309C=)
c.1356C=
n.2100C=
c.2211C= (p.Cys737=)
c.2697C= (p.Cys899=)
c.*2396C= (n.*2396C=)
n.791C=
c.*1169C= (n.*1169C=)
c.1498C=
c.2652+45C= (n.2652+45C=)
c.2685C= (p.Cys895=)
c.2667C= (p.Cys889=)
c.2406C= (p.Cys802=)
c.750C=
c.2817C= (p.Cys939=)
c.2799C= (p.Cys933=)
c.2478C= (p.Cys826=)
c.2346C= (p.Cys782=)
c.2343C= (p.Cys781=)
c.2427C= (p.Cys809=)
c.2358C= (p.Cys786=)
c.1341C= (p.Cys447=)
12g.55693168G>TCA385181521ITGA7c.*2309C>A (n.*2309C>A)
c.1356C>A
n.2100C>A
c.2211C>A (p.Cys737Ter)
c.2697C>A (p.Cys899Ter)
c.*2396C>A (n.*2396C>A)
n.791C>A
c.*1169C>A (n.*1169C>A)
c.1498C>A
c.2652+45C>A (n.2652+45C>A)
c.2685C>A (p.Cys895Ter)
c.2667C>A (p.Cys889Ter)
c.2406C>A (p.Cys802Ter)
c.750C>A
c.2817C>A (p.Cys939Ter)
c.2799C>A (p.Cys933Ter)
c.2478C>A (p.Cys826Ter)
c.2346C>A (p.Cys782Ter)
c.2343C>A (p.Cys781Ter)
c.2427C>A (p.Cys809Ter)
c.2358C>A (p.Cys786Ter)
c.1341C>A (p.Cys447Ter)
12g.55693169C>ACA385181522ITGA7c.*2308G>T (n.*2308G>T)
c.1355G>T
n.2099G>T
c.2210G>T (p.Cys737Phe)
c.2696G>T (p.Cys899Phe)
c.*2395G>T (n.*2395G>T)
n.790G>T
c.*1168G>T (n.*1168G>T)
c.1497G>T
c.2652+44G>T (n.2652+44G>T)
c.2684G>T (p.Cys895Phe)
c.2666G>T (p.Cys889Phe)
c.2405G>T (p.Cys802Phe)
c.749G>T
c.2816G>T (p.Cys939Phe)
c.2798G>T (p.Cys933Phe)
c.2477G>T (p.Cys826Phe)
c.2345G>T (p.Cys782Phe)
c.2342G>T (p.Cys781Phe)
c.2426G>T (p.Cys809Phe)
c.2357G>T (p.Cys786Phe)
c.1340G>T (p.Cys447Phe)
12g.55693169C>GCA385181523ITGA7c.*2308G>C (n.*2308G>C)
c.1355G>C
n.2099G>C
c.2210G>C (p.Cys737Ser)
c.2696G>C (p.Cys899Ser)
c.*2395G>C (n.*2395G>C)
n.790G>C
c.*1168G>C (n.*1168G>C)
c.1497G>C
c.2652+44G>C (n.2652+44G>C)
c.2684G>C (p.Cys895Ser)
c.2666G>C (p.Cys889Ser)
c.2405G>C (p.Cys802Ser)
c.749G>C
c.2816G>C (p.Cys939Ser)
c.2798G>C (p.Cys933Ser)
c.2477G>C (p.Cys826Ser)
c.2345G>C (p.Cys782Ser)
c.2342G>C (p.Cys781Ser)
c.2426G>C (p.Cys809Ser)
c.2357G>C (p.Cys786Ser)
c.1340G>C (p.Cys447Ser)
12g.55693169C>TCA385181524ITGA7c.*2308G>A (n.*2308G>A)
c.1355G>A
n.2099G>A
c.2210G>A (p.Cys737Tyr)
c.2696G>A (p.Cys899Tyr)
c.*2395G>A (n.*2395G>A)
n.790G>A
c.*1168G>A (n.*1168G>A)
c.1497G>A
c.2652+44G>A (n.2652+44G>A)
c.2684G>A (p.Cys895Tyr)
c.2666G>A (p.Cys889Tyr)
c.2405G>A (p.Cys802Tyr)
c.749G>A
c.2816G>A (p.Cys939Tyr)
c.2798G>A (p.Cys933Tyr)
c.2477G>A (p.Cys826Tyr)
c.2345G>A (p.Cys782Tyr)
c.2342G>A (p.Cys781Tyr)
c.2426G>A (p.Cys809Tyr)
c.2357G>A (p.Cys786Tyr)
c.1340G>A (p.Cys447Tyr)
12g.55693170A>CCA385181525ITGA7c.*2307T>G (n.*2307T>G)
c.1354T>G
n.2098T>G
c.2209T>G (p.Cys737Gly)
c.2695T>G (p.Cys899Gly)
c.*2394T>G (n.*2394T>G)
n.789T>G
c.*1167T>G (n.*1167T>G)
c.1496T>G
c.2652+43T>G (n.2652+43T>G)
c.2683T>G (p.Cys895Gly)
c.2665T>G (p.Cys889Gly)
c.2404T>G (p.Cys802Gly)
c.748T>G
c.2815T>G (p.Cys939Gly)
c.2797T>G (p.Cys933Gly)
c.2476T>G (p.Cys826Gly)
c.2344T>G (p.Cys782Gly)
c.2341T>G (p.Cys781Gly)
c.2425T>G (p.Cys809Gly)
c.2356T>G (p.Cys786Gly)
c.1339T>G (p.Cys447Gly)
12g.55693170A>GCA385181526ITGA7c.*2307T>C (n.*2307T>C)
c.1354T>C
n.2098T>C
c.2209T>C (p.Cys737Arg)
c.2695T>C (p.Cys899Arg)
c.*2394T>C (n.*2394T>C)
n.789T>C
c.*1167T>C (n.*1167T>C)
c.1496T>C
c.2652+43T>C (n.2652+43T>C)
c.2683T>C (p.Cys895Arg)
c.2665T>C (p.Cys889Arg)
c.2404T>C (p.Cys802Arg)
c.748T>C
c.2815T>C (p.Cys939Arg)
c.2797T>C (p.Cys933Arg)
c.2476T>C (p.Cys826Arg)
c.2344T>C (p.Cys782Arg)
c.2341T>C (p.Cys781Arg)
c.2425T>C (p.Cys809Arg)
c.2356T>C (p.Cys786Arg)
c.1339T>C (p.Cys447Arg)
12g.55693170A>TCA385181527ITGA7c.*2307T>A (n.*2307T>A)
c.1354T>A
n.2098T>A
c.2209T>A (p.Cys737Ser)
c.2695T>A (p.Cys899Ser)
c.*2394T>A (n.*2394T>A)
n.789T>A
c.*1167T>A (n.*1167T>A)
c.1496T>A
c.2652+43T>A (n.2652+43T>A)
c.2683T>A (p.Cys895Ser)
c.2665T>A (p.Cys889Ser)
c.2404T>A (p.Cys802Ser)
c.748T>A
c.2815T>A (p.Cys939Ser)
c.2797T>A (p.Cys933Ser)
c.2476T>A (p.Cys826Ser)
c.2344T>A (p.Cys782Ser)
c.2341T>A (p.Cys781Ser)
c.2425T>A (p.Cys809Ser)
c.2356T>A (p.Cys786Ser)
c.1339T>A (p.Cys447Ser)
12g.55693171A>CCA480145232ITGA7c.*2306T>G (n.*2306T>G)
c.1353T>G
n.2097T>G
c.2208T>G (p.Leu736=)
c.2694T>G (p.Leu898=)
c.*2393T>G (n.*2393T>G)
n.788T>G
c.*1166T>G (n.*1166T>G)
c.1495T>G
c.2652+42T>G (n.2652+42T>G)
c.2682T>G (p.Leu894=)
c.2664T>G (p.Leu888=)
c.2403T>G (p.Leu801=)
c.747T>G
c.2814T>G (p.Leu938=)
c.2796T>G (p.Leu932=)
c.2475T>G (p.Leu825=)
c.2343T>G (p.Leu781=)
c.2340T>G (p.Leu780=)
c.2424T>G (p.Leu808=)
c.2355T>G (p.Leu785=)
c.1338T>G (p.Leu446=)
12g.55693171A>GCA480145230ITGA7c.*2306T>C (n.*2306T>C)
c.1353T>C
n.2097T>C
c.2208T>C (p.Leu736=)
c.2694T>C (p.Leu898=)
c.*2393T>C (n.*2393T>C)
n.788T>C
c.*1166T>C (n.*1166T>C)
c.1495T>C
c.2652+42T>C (n.2652+42T>C)
c.2682T>C (p.Leu894=)
c.2664T>C (p.Leu888=)
c.2403T>C (p.Leu801=)
c.747T>C
c.2814T>C (p.Leu938=)
c.2796T>C (p.Leu932=)
c.2475T>C (p.Leu825=)
c.2343T>C (p.Leu781=)
c.2340T>C (p.Leu780=)
c.2424T>C (p.Leu808=)
c.2355T>C (p.Leu785=)
c.1338T>C (p.Leu446=)
12g.55693171A>TCA480145228ITGA7c.*2306T>A (n.*2306T>A)
c.1353T>A
n.2097T>A
c.2208T>A (p.Leu736=)
c.2694T>A (p.Leu898=)
c.*2393T>A (n.*2393T>A)
n.788T>A
c.*1166T>A (n.*1166T>A)
c.1495T>A
c.2652+42T>A (n.2652+42T>A)
c.2682T>A (p.Leu894=)
c.2664T>A (p.Leu888=)
c.2403T>A (p.Leu801=)
c.747T>A
c.2814T>A (p.Leu938=)
c.2796T>A (p.Leu932=)
c.2475T>A (p.Leu825=)
c.2343T>A (p.Leu781=)
c.2340T>A (p.Leu780=)
c.2424T>A (p.Leu808=)
c.2355T>A (p.Leu785=)
c.1338T>A (p.Leu446=)
12g.55693172A>CCA385181528ITGA7c.*2305T>G (n.*2305T>G)
c.1352T>G
n.2096T>G
c.2207T>G (p.Leu736Arg)
c.2693T>G (p.Leu898Arg)
c.*2392T>G (n.*2392T>G)
n.787T>G
c.*1165T>G (n.*1165T>G)
c.1494T>G
c.2652+41T>G (n.2652+41T>G)
c.2681T>G (p.Leu894Arg)
c.2663T>G (p.Leu888Arg)
c.2402T>G (p.Leu801Arg)
c.746T>G
c.2813T>G (p.Leu938Arg)
c.2795T>G (p.Leu932Arg)
c.2474T>G (p.Leu825Arg)
c.2342T>G (p.Leu781Arg)
c.2339T>G (p.Leu780Arg)
c.2423T>G (p.Leu808Arg)
c.2354T>G (p.Leu785Arg)
c.1337T>G (p.Leu446Arg)
12g.55693172A>GCA385181529ITGA7c.*2305T>C (n.*2305T>C)
c.1352T>C
n.2096T>C
c.2207T>C (p.Leu736Pro)
c.2693T>C (p.Leu898Pro)
c.*2392T>C (n.*2392T>C)
n.787T>C
c.*1165T>C (n.*1165T>C)
c.1494T>C
c.2652+41T>C (n.2652+41T>C)
c.2681T>C (p.Leu894Pro)
c.2663T>C (p.Leu888Pro)
c.2402T>C (p.Leu801Pro)
c.746T>C
c.2813T>C (p.Leu938Pro)
c.2795T>C (p.Leu932Pro)
c.2474T>C (p.Leu825Pro)
c.2342T>C (p.Leu781Pro)
c.2339T>C (p.Leu780Pro)
c.2423T>C (p.Leu808Pro)
c.2354T>C (p.Leu785Pro)
c.1337T>C (p.Leu446Pro)
12g.55693172A>TCA385181530ITGA7c.*2305T>A (n.*2305T>A)
c.1352T>A
n.2096T>A
c.2207T>A (p.Leu736His)
c.2693T>A (p.Leu898His)
c.*2392T>A (n.*2392T>A)
n.787T>A
c.*1165T>A (n.*1165T>A)
c.1494T>A
c.2652+41T>A (n.2652+41T>A)
c.2681T>A (p.Leu894His)
c.2663T>A (p.Leu888His)
c.2402T>A (p.Leu801His)
c.746T>A
c.2813T>A (p.Leu938His)
c.2795T>A (p.Leu932His)
c.2474T>A (p.Leu825His)
c.2342T>A (p.Leu781His)
c.2339T>A (p.Leu780His)
c.2423T>A (p.Leu808His)
c.2354T>A (p.Leu785His)
c.1337T>A (p.Leu446His)
12g.55693173G>ACA385181532ITGA7c.*2304C>T (n.*2304C>T)
c.1351C>T
n.2095C>T
c.2206C>T (p.Leu736Phe)
c.2692C>T (p.Leu898Phe)
c.*2391C>T (n.*2391C>T)
n.786C>T
c.*1164C>T (n.*1164C>T)
c.1493C>T
c.2652+40C>T (n.2652+40C>T)
c.2680C>T (p.Leu894Phe)
c.2662C>T (p.Leu888Phe)
c.2401C>T (p.Leu801Phe)
c.745C>T
c.2812C>T (p.Leu938Phe)
c.2794C>T (p.Leu932Phe)
c.2473C>T (p.Leu825Phe)
c.2341C>T (p.Leu781Phe)
c.2338C>T (p.Leu780Phe)
c.2422C>T (p.Leu808Phe)
c.2353C>T (p.Leu785Phe)
c.1336C>T (p.Leu446Phe)
 COSMIC COSMIC COSMIC COSMIC
12g.55693173G>CCA6615511ITGA7c.*2304C>G (n.*2304C>G)
c.1351C>G
n.2095C>G
c.2206C>G (p.Leu736Val)
c.2692C>G (p.Leu898Val)
c.*2391C>G (n.*2391C>G)
n.786C>G
c.*1164C>G (n.*1164C>G)
c.1493C>G
c.2652+40C>G (n.2652+40C>G)
c.2680C>G (p.Leu894Val)
c.2662C>G (p.Leu888Val)
c.2401C>G (p.Leu801Val)
c.745C>G
c.2812C>G (p.Leu938Val)
c.2794C>G (p.Leu932Val)
c.2473C>G (p.Leu825Val)
c.2341C>G (p.Leu781Val)
c.2338C>G (p.Leu780Val)
c.2422C>G (p.Leu808Val)
c.2353C>G (p.Leu785Val)
c.1336C>G (p.Leu446Val)
 dbSNP ExAC gnomAD v4
12g.55693173G=CA2038035734ITGA7c.*2304C= (n.*2304C=)
c.1351C=
n.2095C=
c.2206C= (p.Leu736=)
c.2692C= (p.Leu898=)
c.*2391C= (n.*2391C=)
n.786C=
c.*1164C= (n.*1164C=)
c.1493C=
c.2652+40C= (n.2652+40C=)
c.2680C= (p.Leu894=)
c.2662C= (p.Leu888=)
c.2401C= (p.Leu801=)
c.745C=
c.2812C= (p.Leu938=)
c.2794C= (p.Leu932=)
c.2473C= (p.Leu825=)
c.2341C= (p.Leu781=)
c.2338C= (p.Leu780=)
c.2422C= (p.Leu808=)
c.2353C= (p.Leu785=)
c.1336C= (p.Leu446=)
12g.55693173G>TCA385181531ITGA7c.*2304C>A (n.*2304C>A)
c.1351C>A
n.2095C>A
c.2206C>A (p.Leu736Ile)
c.2692C>A (p.Leu898Ile)
c.*2391C>A (n.*2391C>A)
n.786C>A
c.*1164C>A (n.*1164C>A)
c.1493C>A
c.2652+40C>A (n.2652+40C>A)
c.2680C>A (p.Leu894Ile)
c.2662C>A (p.Leu888Ile)
c.2401C>A (p.Leu801Ile)
c.745C>A
c.2812C>A (p.Leu938Ile)
c.2794C>A (p.Leu932Ile)
c.2473C>A (p.Leu825Ile)
c.2341C>A (p.Leu781Ile)
c.2338C>A (p.Leu780Ile)
c.2422C>A (p.Leu808Ile)
c.2353C>A (p.Leu785Ile)
c.1336C>A (p.Leu446Ile)
 gnomAD v4
12g.55693174C>ACA480145239ITGA7c.*2303G>T (n.*2303G>T)
c.1350G>T
n.2094G>T
c.2205G>T (p.Gly735=)
c.2691G>T (p.Gly897=)
c.*2390G>T (n.*2390G>T)
n.785G>T
c.*1163G>T (n.*1163G>T)
c.1492G>T
c.2652+39G>T (n.2652+39G>T)
c.2679G>T (p.Gly893=)
c.2661G>T (p.Gly887=)
c.2400G>T (p.Gly800=)
c.744G>T
c.2811G>T (p.Gly937=)
c.2793G>T (p.Gly931=)
c.2472G>T (p.Gly824=)
c.2340G>T (p.Gly780=)
c.2337G>T (p.Gly779=)
c.2421G>T (p.Gly807=)
c.2352G>T (p.Gly784=)
c.1335G>T (p.Gly445=)
12g.55693174C>GCA480145240ITGA7c.*2303G>C (n.*2303G>C)
c.1350G>C
n.2094G>C
c.2205G>C (p.Gly735=)
c.2691G>C (p.Gly897=)
c.*2390G>C (n.*2390G>C)
n.785G>C
c.*1163G>C (n.*1163G>C)
c.1492G>C
c.2652+39G>C (n.2652+39G>C)
c.2679G>C (p.Gly893=)
c.2661G>C (p.Gly887=)
c.2400G>C (p.Gly800=)
c.744G>C
c.2811G>C (p.Gly937=)
c.2793G>C (p.Gly931=)
c.2472G>C (p.Gly824=)
c.2340G>C (p.Gly780=)
c.2337G>C (p.Gly779=)
c.2421G>C (p.Gly807=)
c.2352G>C (p.Gly784=)
c.1335G>C (p.Gly445=)
12g.55693174C>TCA480145242ITGA7c.*2303G>A (n.*2303G>A)
c.1350G>A
n.2094G>A
c.2205G>A (p.Gly735=)
c.2691G>A (p.Gly897=)
c.*2390G>A (n.*2390G>A)
n.785G>A
c.*1163G>A (n.*1163G>A)
c.1492G>A
c.2652+39G>A (n.2652+39G>A)
c.2679G>A (p.Gly893=)
c.2661G>A (p.Gly887=)
c.2400G>A (p.Gly800=)
c.744G>A
c.2811G>A (p.Gly937=)
c.2793G>A (p.Gly931=)
c.2472G>A (p.Gly824=)
c.2340G>A (p.Gly780=)
c.2337G>A (p.Gly779=)
c.2421G>A (p.Gly807=)
c.2352G>A (p.Gly784=)
c.1335G>A (p.Gly445=)
12g.55693175C>ACA385181533ITGA7c.*2302G>T (n.*2302G>T)
c.1349G>T
n.2093G>T
c.2204G>T (p.Gly735Val)
c.2690G>T (p.Gly897Val)
c.*2389G>T (n.*2389G>T)
n.784G>T
c.*1162G>T (n.*1162G>T)
c.1491G>T
c.2652+38G>T (n.2652+38G>T)
c.2678G>T (p.Gly893Val)
c.2660G>T (p.Gly887Val)
c.2399G>T (p.Gly800Val)
c.743G>T
c.2810G>T (p.Gly937Val)
c.2792G>T (p.Gly931Val)
c.2471G>T (p.Gly824Val)
c.2339G>T (p.Gly780Val)
c.2336G>T (p.Gly779Val)
c.2420G>T (p.Gly807Val)
c.2351G>T (p.Gly784Val)
c.1334G>T (p.Gly445Val)
12g.55693175C=CA2038035738ITGA7c.*2302G= (n.*2302G=)
c.1349G=
n.2093G=
c.2204G= (p.Gly735=)
c.2690G= (p.Gly897=)
c.*2389G= (n.*2389G=)
n.784G=
c.*1162G= (n.*1162G=)
c.1491G=
c.2652+38G= (n.2652+38G=)
c.2678G= (p.Gly893=)
c.2660G= (p.Gly887=)
c.2399G= (p.Gly800=)
c.743G=
c.2810G= (p.Gly937=)
c.2792G= (p.Gly931=)
c.2471G= (p.Gly824=)
c.2339G= (p.Gly780=)
c.2336G= (p.Gly779=)
c.2420G= (p.Gly807=)
c.2351G= (p.Gly784=)
c.1334G= (p.Gly445=)
12g.55693175C>GCA385181534ITGA7c.*2302G>C (n.*2302G>C)
c.1349G>C
n.2093G>C
c.2204G>C (p.Gly735Ala)
c.2690G>C (p.Gly897Ala)
c.*2389G>C (n.*2389G>C)
n.784G>C
c.*1162G>C (n.*1162G>C)
c.1491G>C
c.2652+38G>C (n.2652+38G>C)
c.2678G>C (p.Gly893Ala)
c.2660G>C (p.Gly887Ala)
c.2399G>C (p.Gly800Ala)
c.743G>C
c.2810G>C (p.Gly937Ala)
c.2792G>C (p.Gly931Ala)
c.2471G>C (p.Gly824Ala)
c.2339G>C (p.Gly780Ala)
c.2336G>C (p.Gly779Ala)
c.2420G>C (p.Gly807Ala)
c.2351G>C (p.Gly784Ala)
c.1334G>C (p.Gly445Ala)
12g.55693175C>TCA385181535ITGA7c.*2302G>A (n.*2302G>A)
c.1349G>A
n.2093G>A
c.2204G>A (p.Gly735Glu)
c.2690G>A (p.Gly897Glu)
c.*2389G>A (n.*2389G>A)
n.784G>A
c.*1162G>A (n.*1162G>A)
c.1491G>A
c.2652+38G>A (n.2652+38G>A)
c.2678G>A (p.Gly893Glu)
c.2660G>A (p.Gly887Glu)
c.2399G>A (p.Gly800Glu)
c.743G>A
c.2810G>A (p.Gly937Glu)
c.2792G>A (p.Gly931Glu)
c.2471G>A (p.Gly824Glu)
c.2339G>A (p.Gly780Glu)
c.2336G>A (p.Gly779Glu)
c.2420G>A (p.Gly807Glu)
c.2351G>A (p.Gly784Glu)
c.1334G>A (p.Gly445Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.55693176C>ACA385181536ITGA7c.*2301G>T (n.*2301G>T)
c.1348G>T
n.2092G>T
c.2203G>T (p.Gly735Trp)
c.2689G>T (p.Gly897Trp)
c.*2388G>T (n.*2388G>T)
n.783G>T
c.*1161G>T (n.*1161G>T)
c.1490G>T
c.2652+37G>T (n.2652+37G>T)
c.2677G>T (p.Gly893Trp)
c.2659G>T (p.Gly887Trp)
c.2398G>T (p.Gly800Trp)
c.742G>T
c.2809G>T (p.Gly937Trp)
c.2791G>T (p.Gly931Trp)
c.2470G>T (p.Gly824Trp)
c.2338G>T (p.Gly780Trp)
c.2335G>T (p.Gly779Trp)
c.2419G>T (p.Gly807Trp)
c.2350G>T (p.Gly784Trp)
c.1333G>T (p.Gly445Trp)
12g.55693176C>GCA385181537ITGA7c.*2301G>C (n.*2301G>C)
c.1348G>C
n.2092G>C
c.2203G>C (p.Gly735Arg)
c.2689G>C (p.Gly897Arg)
c.*2388G>C (n.*2388G>C)
n.783G>C
c.*1161G>C (n.*1161G>C)
c.1490G>C
c.2652+37G>C (n.2652+37G>C)
c.2677G>C (p.Gly893Arg)
c.2659G>C (p.Gly887Arg)
c.2398G>C (p.Gly800Arg)
c.742G>C
c.2809G>C (p.Gly937Arg)
c.2791G>C (p.Gly931Arg)
c.2470G>C (p.Gly824Arg)
c.2338G>C (p.Gly780Arg)
c.2335G>C (p.Gly779Arg)
c.2419G>C (p.Gly807Arg)
c.2350G>C (p.Gly784Arg)
c.1333G>C (p.Gly445Arg)
 gnomAD v4
12g.55693176C>TCA385181538ITGA7c.*2301G>A (n.*2301G>A)
c.1348G>A
n.2092G>A
c.2203G>A (p.Gly735Arg)
c.2689G>A (p.Gly897Arg)
c.*2388G>A (n.*2388G>A)
n.783G>A
c.*1161G>A (n.*1161G>A)
c.1490G>A
c.2652+37G>A (n.2652+37G>A)
c.2677G>A (p.Gly893Arg)
c.2659G>A (p.Gly887Arg)
c.2398G>A (p.Gly800Arg)
c.742G>A
c.2809G>A (p.Gly937Arg)
c.2791G>A (p.Gly931Arg)
c.2470G>A (p.Gly824Arg)
c.2338G>A (p.Gly780Arg)
c.2335G>A (p.Gly779Arg)
c.2419G>A (p.Gly807Arg)
c.2350G>A (p.Gly784Arg)
c.1333G>A (p.Gly445Arg)
 gnomAD v4
12g.55693176_55693177delinsCTCA2038035743ITGA7c.*2300_*2301delinsAG (n.*2300_*2301delinsAG)
c.1347_1348delinsAG
n.2091_2092delinsAG
c.2202_2203delinsAG (p.Lys734=)
c.2688_2689delinsAG (p.Lys896=)
c.*2387_*2388delinsAG (n.*2387_*2388delinsAG)
n.782_783delinsAG
c.*1160_*1161delinsAG (n.*1160_*1161delinsAG)
c.1489_1490delinsAG
c.2652+36_2652+37delinsAG (n.2652+36_2652+37delinsAG)
c.2676_2677delinsAG (p.Lys892=)
c.2658_2659delinsAG (p.Lys886=)
c.2397_2398delinsAG (p.Lys799=)
c.741_742delinsAG
c.2808_2809delinsAG (p.Lys936=)
c.2790_2791delinsAG (p.Lys930=)
c.2469_2470delinsAG (p.Lys823=)
c.2337_2338delinsAG (p.Lys779=)
c.2334_2335delinsAG (p.Lys778=)
c.2418_2419delinsAG (p.Lys806=)
c.2349_2350delinsAG (p.Lys783=)
c.1332_1333delinsAG (p.Lys444=)
12g.55693177T>ACA385181539ITGA7c.*2300A>T (n.*2300A>T)
c.1347A>T
n.2091A>T
c.2202A>T (p.Lys734Asn)
c.2688A>T (p.Lys896Asn)
c.*2387A>T (n.*2387A>T)
n.782A>T
c.*1160A>T (n.*1160A>T)
c.1489A>T
c.2652+36A>T (n.2652+36A>T)
c.2676A>T (p.Lys892Asn)
c.2658A>T (p.Lys886Asn)
c.2397A>T (p.Lys799Asn)
c.741A>T
c.2808A>T (p.Lys936Asn)
c.2790A>T (p.Lys930Asn)
c.2469A>T (p.Lys823Asn)
c.2337A>T (p.Lys779Asn)
c.2334A>T (p.Lys778Asn)
c.2418A>T (p.Lys806Asn)
c.2349A>T (p.Lys783Asn)
c.1332A>T (p.Lys444Asn)
12g.55693177T>CCA480145251ITGA7c.*2300A>G (n.*2300A>G)
c.1347A>G
n.2091A>G
c.2202A>G (p.Lys734=)
c.2688A>G (p.Lys896=)
c.*2387A>G (n.*2387A>G)
n.782A>G
c.*1160A>G (n.*1160A>G)
c.1489A>G
c.2652+36A>G (n.2652+36A>G)
c.2676A>G (p.Lys892=)
c.2658A>G (p.Lys886=)
c.2397A>G (p.Lys799=)
c.741A>G
c.2808A>G (p.Lys936=)
c.2790A>G (p.Lys930=)
c.2469A>G (p.Lys823=)
c.2337A>G (p.Lys779=)
c.2334A>G (p.Lys778=)
c.2418A>G (p.Lys806=)
c.2349A>G (p.Lys783=)
c.1332A>G (p.Lys444=)
12g.55693177T>GCA385181540ITGA7c.*2300A>C (n.*2300A>C)
c.1347A>C
n.2091A>C
c.2202A>C (p.Lys734Asn)
c.2688A>C (p.Lys896Asn)
c.*2387A>C (n.*2387A>C)
n.782A>C
c.*1160A>C (n.*1160A>C)
c.1489A>C
c.2652+36A>C (n.2652+36A>C)
c.2676A>C (p.Lys892Asn)
c.2658A>C (p.Lys886Asn)
c.2397A>C (p.Lys799Asn)
c.741A>C
c.2808A>C (p.Lys936Asn)
c.2790A>C (p.Lys930Asn)
c.2469A>C (p.Lys823Asn)
c.2337A>C (p.Lys779Asn)
c.2334A>C (p.Lys778Asn)
c.2418A>C (p.Lys806Asn)
c.2349A>C (p.Lys783Asn)
c.1332A>C (p.Lys444Asn)
12g.55693179delCA6615512ITGA7c.*2300del (n.*2300del)
c.1347del
n.2091del
c.2202del (p.Leu736PhefsTer?)
c.2688del (p.Leu898PhefsTer?)
c.*2387del (n.*2387del)
n.782del
c.*1160del (n.*1160del)
c.1489del
c.2652+36del (n.2652+36del)
c.2676del (p.Leu894PhefsTer?)
c.2658del (p.Leu888PhefsTer?)
c.2397del (p.Leu801PhefsTer?)
c.741del
c.2808del (p.Leu938PhefsTer?)
c.2790del (p.Leu932PhefsTer?)
c.2469del (p.Leu825PhefsTer?)
c.2337del (p.Leu781PhefsTer?)
c.2334del (p.Leu780PhefsTer?)
c.2418del (p.Leu808PhefsTer?)
c.2349del (p.Leu785PhefsTer?)
c.1332del (p.Leu446PhefsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693178T>ACA385181541ITGA7c.*2299A>T (n.*2299A>T)
c.1346A>T
n.2090A>T
c.2201A>T (p.Lys734Ile)
c.2687A>T (p.Lys896Ile)
c.*2386A>T (n.*2386A>T)
n.781A>T
c.*1159A>T (n.*1159A>T)
c.1488A>T
c.2652+35A>T (n.2652+35A>T)
c.2675A>T (p.Lys892Ile)
c.2657A>T (p.Lys886Ile)
c.2396A>T (p.Lys799Ile)
c.740A>T
c.2807A>T (p.Lys936Ile)
c.2789A>T (p.Lys930Ile)
c.2468A>T (p.Lys823Ile)
c.2336A>T (p.Lys779Ile)
c.2333A>T (p.Lys778Ile)
c.2417A>T (p.Lys806Ile)
c.2348A>T (p.Lys783Ile)
c.1331A>T (p.Lys444Ile)
12g.55693178T>CCA385181542ITGA7c.*2299A>G (n.*2299A>G)
c.1346A>G
n.2090A>G
c.2201A>G (p.Lys734Arg)
c.2687A>G (p.Lys896Arg)
c.*2386A>G (n.*2386A>G)
n.781A>G
c.*1159A>G (n.*1159A>G)
c.1488A>G
c.2652+35A>G (n.2652+35A>G)
c.2675A>G (p.Lys892Arg)
c.2657A>G (p.Lys886Arg)
c.2396A>G (p.Lys799Arg)
c.740A>G
c.2807A>G (p.Lys936Arg)
c.2789A>G (p.Lys930Arg)
c.2468A>G (p.Lys823Arg)
c.2336A>G (p.Lys779Arg)
c.2333A>G (p.Lys778Arg)
c.2417A>G (p.Lys806Arg)
c.2348A>G (p.Lys783Arg)
c.1331A>G (p.Lys444Arg)
12g.55693178T>GCA385181543ITGA7c.*2299A>C (n.*2299A>C)
c.1346A>C
n.2090A>C
c.2201A>C (p.Lys734Thr)
c.2687A>C (p.Lys896Thr)
c.*2386A>C (n.*2386A>C)
n.781A>C
c.*1159A>C (n.*1159A>C)
c.1488A>C
c.2652+35A>C (n.2652+35A>C)
c.2675A>C (p.Lys892Thr)
c.2657A>C (p.Lys886Thr)
c.2396A>C (p.Lys799Thr)
c.740A>C
c.2807A>C (p.Lys936Thr)
c.2789A>C (p.Lys930Thr)
c.2468A>C (p.Lys823Thr)
c.2336A>C (p.Lys779Thr)
c.2333A>C (p.Lys778Thr)
c.2417A>C (p.Lys806Thr)
c.2348A>C (p.Lys783Thr)
c.1331A>C (p.Lys444Thr)
12g.55693179T>ACA385181544ITGA7c.*2298A>T (n.*2298A>T)
c.1345A>T
n.2089A>T
c.2200A>T (p.Lys734Ter)
c.2686A>T (p.Lys896Ter)
c.*2385A>T (n.*2385A>T)
n.780A>T
c.*1158A>T (n.*1158A>T)
c.1487A>T
c.2652+34A>T (n.2652+34A>T)
c.2674A>T (p.Lys892Ter)
c.2656A>T (p.Lys886Ter)
c.2395A>T (p.Lys799Ter)
c.739A>T
c.2806A>T (p.Lys936Ter)
c.2788A>T (p.Lys930Ter)
c.2467A>T (p.Lys823Ter)
c.2335A>T (p.Lys779Ter)
c.2332A>T (p.Lys778Ter)
c.2416A>T (p.Lys806Ter)
c.2347A>T (p.Lys783Ter)
c.1330A>T (p.Lys444Ter)
12g.55693179T>CCA385181546ITGA7c.*2298A>G (n.*2298A>G)
c.1345A>G
n.2089A>G
c.2200A>G (p.Lys734Glu)
c.2686A>G (p.Lys896Glu)
c.*2385A>G (n.*2385A>G)
n.780A>G
c.*1158A>G (n.*1158A>G)
c.1487A>G
c.2652+34A>G (n.2652+34A>G)
c.2674A>G (p.Lys892Glu)
c.2656A>G (p.Lys886Glu)
c.2395A>G (p.Lys799Glu)
c.739A>G
c.2806A>G (p.Lys936Glu)
c.2788A>G (p.Lys930Glu)
c.2467A>G (p.Lys823Glu)
c.2335A>G (p.Lys779Glu)
c.2332A>G (p.Lys778Glu)
c.2416A>G (p.Lys806Glu)
c.2347A>G (p.Lys783Glu)
c.1330A>G (p.Lys444Glu)
12g.55693179T>GCA385181545ITGA7c.*2298A>C (n.*2298A>C)
c.1345A>C
n.2089A>C
c.2200A>C (p.Lys734Gln)
c.2686A>C (p.Lys896Gln)
c.*2385A>C (n.*2385A>C)
n.780A>C
c.*1158A>C (n.*1158A>C)
c.1487A>C
c.2652+34A>C (n.2652+34A>C)
c.2674A>C (p.Lys892Gln)
c.2656A>C (p.Lys886Gln)
c.2395A>C (p.Lys799Gln)
c.739A>C
c.2806A>C (p.Lys936Gln)
c.2788A>C (p.Lys930Gln)
c.2467A>C (p.Lys823Gln)
c.2335A>C (p.Lys779Gln)
c.2332A>C (p.Lys778Gln)
c.2416A>C (p.Lys806Gln)
c.2347A>C (p.Lys783Gln)
c.1330A>C (p.Lys444Gln)
12g.55693180C>ACA385181547ITGA7c.*2297G>T (n.*2297G>T)
c.1344G>T
n.2088G>T
c.2199G>T (p.Gln733His)
c.2685G>T (p.Gln895His)
c.*2384G>T (n.*2384G>T)
n.779G>T
c.*1157G>T (n.*1157G>T)
c.1486G>T
c.2652+33G>T (n.2652+33G>T)
c.2673G>T (p.Gln891His)
c.2655G>T (p.Gln885His)
c.2394G>T (p.Gln798His)
c.738G>T
c.2805G>T (p.Gln935His)
c.2787G>T (p.Gln929His)
c.2466G>T (p.Gln822His)
c.2334G>T (p.Gln778His)
c.2331G>T (p.Gln777His)
c.2415G>T (p.Gln805His)
c.2346G>T (p.Gln782His)
c.1329G>T (p.Gln443His)
 gnomAD v4
12g.55693180C=CA2038035753ITGA7c.*2297G= (n.*2297G=)
c.1344G=
n.2088G=
c.2199G= (p.Gln733=)
c.2685G= (p.Gln895=)
c.*2384G= (n.*2384G=)
n.779G=
c.*1157G= (n.*1157G=)
c.1486G=
c.2652+33G= (n.2652+33G=)
c.2673G= (p.Gln891=)
c.2655G= (p.Gln885=)
c.2394G= (p.Gln798=)
c.738G=
c.2805G= (p.Gln935=)
c.2787G= (p.Gln929=)
c.2466G= (p.Gln822=)
c.2334G= (p.Gln778=)
c.2331G= (p.Gln777=)
c.2415G= (p.Gln805=)
c.2346G= (p.Gln782=)
c.1329G= (p.Gln443=)
12g.55693180C>GCA6615513ITGA7c.*2297G>C (n.*2297G>C)
c.1344G>C
n.2088G>C
c.2199G>C (p.Gln733His)
c.2685G>C (p.Gln895His)
c.*2384G>C (n.*2384G>C)
n.779G>C
c.*1157G>C (n.*1157G>C)
c.1486G>C
c.2652+33G>C (n.2652+33G>C)
c.2673G>C (p.Gln891His)
c.2655G>C (p.Gln885His)
c.2394G>C (p.Gln798His)
c.738G>C
c.2805G>C (p.Gln935His)
c.2787G>C (p.Gln929His)
c.2466G>C (p.Gln822His)
c.2334G>C (p.Gln778His)
c.2331G>C (p.Gln777His)
c.2415G>C (p.Gln805His)
c.2346G>C (p.Gln782His)
c.1329G>C (p.Gln443His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693180C>TCA480145261ITGA7c.*2297G>A (n.*2297G>A)
c.1344G>A
n.2088G>A
c.2199G>A (p.Gln733=)
c.2685G>A (p.Gln895=)
c.*2384G>A (n.*2384G>A)
n.779G>A
c.*1157G>A (n.*1157G>A)
c.1486G>A
c.2652+33G>A (n.2652+33G>A)
c.2673G>A (p.Gln891=)
c.2655G>A (p.Gln885=)
c.2394G>A (p.Gln798=)
c.738G>A
c.2805G>A (p.Gln935=)
c.2787G>A (p.Gln929=)
c.2466G>A (p.Gln822=)
c.2334G>A (p.Gln778=)
c.2331G>A (p.Gln777=)
c.2415G>A (p.Gln805=)
c.2346G>A (p.Gln782=)
c.1329G>A (p.Gln443=)
 gnomAD v4
12g.55693181T>ACA385181548ITGA7c.*2296A>T (n.*2296A>T)
c.1343A>T
n.2087A>T
c.2198A>T (p.Gln733Leu)
c.2684A>T (p.Gln895Leu)
c.*2383A>T (n.*2383A>T)
n.778A>T
c.*1156A>T (n.*1156A>T)
c.1485A>T
c.2652+32A>T (n.2652+32A>T)
c.2672A>T (p.Gln891Leu)
c.2654A>T (p.Gln885Leu)
c.2393A>T (p.Gln798Leu)
c.737A>T
c.2804A>T (p.Gln935Leu)
c.2786A>T (p.Gln929Leu)
c.2465A>T (p.Gln822Leu)
c.2333A>T (p.Gln778Leu)
c.2330A>T (p.Gln777Leu)
c.2414A>T (p.Gln805Leu)
c.2345A>T (p.Gln782Leu)
c.1328A>T (p.Gln443Leu)
12g.55693181T>CCA385181549ITGA7c.*2296A>G (n.*2296A>G)
c.1343A>G
n.2087A>G
c.2198A>G (p.Gln733Arg)
c.2684A>G (p.Gln895Arg)
c.*2383A>G (n.*2383A>G)
n.778A>G
c.*1156A>G (n.*1156A>G)
c.1485A>G
c.2652+32A>G (n.2652+32A>G)
c.2672A>G (p.Gln891Arg)
c.2654A>G (p.Gln885Arg)
c.2393A>G (p.Gln798Arg)
c.737A>G
c.2804A>G (p.Gln935Arg)
c.2786A>G (p.Gln929Arg)
c.2465A>G (p.Gln822Arg)
c.2333A>G (p.Gln778Arg)
c.2330A>G (p.Gln777Arg)
c.2414A>G (p.Gln805Arg)
c.2345A>G (p.Gln782Arg)
c.1328A>G (p.Gln443Arg)
 gnomAD v4
12g.55693181T>GCA385181550ITGA7c.*2296A>C (n.*2296A>C)
c.1343A>C
n.2087A>C
c.2198A>C (p.Gln733Pro)
c.2684A>C (p.Gln895Pro)
c.*2383A>C (n.*2383A>C)
n.778A>C
c.*1156A>C (n.*1156A>C)
c.1485A>C
c.2652+32A>C (n.2652+32A>C)
c.2672A>C (p.Gln891Pro)
c.2654A>C (p.Gln885Pro)
c.2393A>C (p.Gln798Pro)
c.737A>C
c.2804A>C (p.Gln935Pro)
c.2786A>C (p.Gln929Pro)
c.2465A>C (p.Gln822Pro)
c.2333A>C (p.Gln778Pro)
c.2330A>C (p.Gln777Pro)
c.2414A>C (p.Gln805Pro)
c.2345A>C (p.Gln782Pro)
c.1328A>C (p.Gln443Pro)
12g.55693182G>ACA237564075ITGA7c.*2295C>T (n.*2295C>T)
c.1342C>T
n.2086C>T
c.2197C>T (p.Gln733Ter)
c.2683C>T (p.Gln895Ter)
c.*2382C>T (n.*2382C>T)
n.777C>T
c.*1155C>T (n.*1155C>T)
c.1484C>T
c.2652+31C>T (n.2652+31C>T)
c.2671C>T (p.Gln891Ter)
c.2653C>T (p.Gln885Ter)
c.2392C>T (p.Gln798Ter)
c.736C>T
c.2803C>T (p.Gln935Ter)
c.2785C>T (p.Gln929Ter)
c.2464C>T (p.Gln822Ter)
c.2332C>T (p.Gln778Ter)
c.2329C>T (p.Gln777Ter)
c.2413C>T (p.Gln805Ter)
c.2344C>T (p.Gln782Ter)
c.1327C>T (p.Gln443Ter)
 dbSNP gnomAD v4
12g.55693182G>CCA385181551ITGA7c.*2295C>G (n.*2295C>G)
c.1342C>G
n.2086C>G
c.2197C>G (p.Gln733Glu)
c.2683C>G (p.Gln895Glu)
c.*2382C>G (n.*2382C>G)
n.777C>G
c.*1155C>G (n.*1155C>G)
c.1484C>G
c.2652+31C>G (n.2652+31C>G)
c.2671C>G (p.Gln891Glu)
c.2653C>G (p.Gln885Glu)
c.2392C>G (p.Gln798Glu)
c.736C>G
c.2803C>G (p.Gln935Glu)
c.2785C>G (p.Gln929Glu)
c.2464C>G (p.Gln822Glu)
c.2332C>G (p.Gln778Glu)
c.2329C>G (p.Gln777Glu)
c.2413C>G (p.Gln805Glu)
c.2344C>G (p.Gln782Glu)
c.1327C>G (p.Gln443Glu)
12g.55693182G=CA2038035755ITGA7c.*2295C= (n.*2295C=)
c.1342C=
n.2086C=
c.2197C= (p.Gln733=)
c.2683C= (p.Gln895=)
c.*2382C= (n.*2382C=)
n.777C=
c.*1155C= (n.*1155C=)
c.1484C=
c.2652+31C= (n.2652+31C=)
c.2671C= (p.Gln891=)
c.2653C= (p.Gln885=)
c.2392C= (p.Gln798=)
c.736C=
c.2803C= (p.Gln935=)
c.2785C= (p.Gln929=)
c.2464C= (p.Gln822=)
c.2332C= (p.Gln778=)
c.2329C= (p.Gln777=)
c.2413C= (p.Gln805=)
c.2344C= (p.Gln782=)
c.1327C= (p.Gln443=)
12g.55693182G>TCA385181552ITGA7c.*2295C>A (n.*2295C>A)
c.1342C>A
n.2086C>A
c.2197C>A (p.Gln733Lys)
c.2683C>A (p.Gln895Lys)
c.*2382C>A (n.*2382C>A)
n.777C>A
c.*1155C>A (n.*1155C>A)
c.1484C>A
c.2652+31C>A (n.2652+31C>A)
c.2671C>A (p.Gln891Lys)
c.2653C>A (p.Gln885Lys)
c.2392C>A (p.Gln798Lys)
c.736C>A
c.2803C>A (p.Gln935Lys)
c.2785C>A (p.Gln929Lys)
c.2464C>A (p.Gln822Lys)
c.2332C>A (p.Gln778Lys)
c.2329C>A (p.Gln777Lys)
c.2413C>A (p.Gln805Lys)
c.2344C>A (p.Gln782Lys)
c.1327C>A (p.Gln443Lys)
 gnomAD v4
12g.55693183C>ACA480145269ITGA7c.*2294G>T (n.*2294G>T)
c.1341G>T
n.2085G>T
c.2196G>T (p.Gly732=)
c.2682G>T (p.Gly894=)
c.*2381G>T (n.*2381G>T)
n.776G>T
c.*1154G>T (n.*1154G>T)
c.1483G>T
c.2652+30G>T (n.2652+30G>T)
c.2670G>T (p.Gly890=)
c.2652G>T (p.Gly884=)
c.2391G>T (p.Gly797=)
c.735G>T
c.2802G>T (p.Gly934=)
c.2784G>T (p.Gly928=)
c.2463G>T (p.Gly821=)
c.2331G>T (p.Gly777=)
c.2328G>T (p.Gly776=)
c.2412G>T (p.Gly804=)
c.2343G>T (p.Gly781=)
c.1326G>T (p.Gly442=)
12g.55693183C>GCA480145271ITGA7c.*2294G>C (n.*2294G>C)
c.1341G>C
n.2085G>C
c.2196G>C (p.Gly732=)
c.2682G>C (p.Gly894=)
c.*2381G>C (n.*2381G>C)
n.776G>C
c.*1154G>C (n.*1154G>C)
c.1483G>C
c.2652+30G>C (n.2652+30G>C)
c.2670G>C (p.Gly890=)
c.2652G>C (p.Gly884=)
c.2391G>C (p.Gly797=)
c.735G>C
c.2802G>C (p.Gly934=)
c.2784G>C (p.Gly928=)
c.2463G>C (p.Gly821=)
c.2331G>C (p.Gly777=)
c.2328G>C (p.Gly776=)
c.2412G>C (p.Gly804=)
c.2343G>C (p.Gly781=)
c.1326G>C (p.Gly442=)
12g.55693183C>TCA480145272ITGA7c.*2294G>A (n.*2294G>A)
c.1341G>A
n.2085G>A
c.2196G>A (p.Gly732=)
c.2682G>A (p.Gly894=)
c.*2381G>A (n.*2381G>A)
n.776G>A
c.*1154G>A (n.*1154G>A)
c.1483G>A
c.2652+30G>A (n.2652+30G>A)
c.2670G>A (p.Gly890=)
c.2652G>A (p.Gly884=)
c.2391G>A (p.Gly797=)
c.735G>A
c.2802G>A (p.Gly934=)
c.2784G>A (p.Gly928=)
c.2463G>A (p.Gly821=)
c.2331G>A (p.Gly777=)
c.2328G>A (p.Gly776=)
c.2412G>A (p.Gly804=)
c.2343G>A (p.Gly781=)
c.1326G>A (p.Gly442=)
12g.55693185delCA2580086502ITGA7c.*2294del (n.*2294del)
c.1341del
n.2085del
c.2196del (p.Gln733ArgfsTer?)
c.2682del (p.Gln895ArgfsTer?)
c.*2381del (n.*2381del)
n.776del
c.*1154del (n.*1154del)
c.1483del
c.2652+30del (n.2652+30del)
c.2670del (p.Gln891ArgfsTer?)
c.2652del (p.Gln885ArgfsTer?)
c.2391del (p.Gln798ArgfsTer?)
c.735del
c.2802del (p.Gln935ArgfsTer?)
c.2784del (p.Gln929ArgfsTer?)
c.2463del (p.Gln822ArgfsTer?)
c.2331del (p.Gln778ArgfsTer?)
c.2328del (p.Gln777ArgfsTer?)
c.2412del (p.Gln805ArgfsTer?)
c.2343del (p.Gln782ArgfsTer?)
c.1326del (p.Gln443ArgfsTer?)
 ClinVar
12g.55693184C>ACA385181553ITGA7c.*2293G>T (n.*2293G>T)
c.1340G>T
n.2084G>T
c.2195G>T (p.Gly732Val)
c.2681G>T (p.Gly894Val)
c.*2380G>T (n.*2380G>T)
n.775G>T
c.*1153G>T (n.*1153G>T)
c.1482G>T
c.2652+29G>T (n.2652+29G>T)
c.2669G>T (p.Gly890Val)
c.2651G>T (p.Gly884Val)
c.2390G>T (p.Gly797Val)
c.734G>T
c.2801G>T (p.Gly934Val)
c.2783G>T (p.Gly928Val)
c.2462G>T (p.Gly821Val)
c.2330G>T (p.Gly777Val)
c.2327G>T (p.Gly776Val)
c.2411G>T (p.Gly804Val)
c.2342G>T (p.Gly781Val)
c.1325G>T (p.Gly442Val)
12g.55693184C=CA2038035760ITGA7c.*2293G= (n.*2293G=)
c.1340G=
n.2084G=
c.2195G= (p.Gly732=)
c.2681G= (p.Gly894=)
c.*2380G= (n.*2380G=)
n.775G=
c.*1153G= (n.*1153G=)
c.1482G=
c.2652+29G= (n.2652+29G=)
c.2669G= (p.Gly890=)
c.2651G= (p.Gly884=)
c.2390G= (p.Gly797=)
c.734G=
c.2801G= (p.Gly934=)
c.2783G= (p.Gly928=)
c.2462G= (p.Gly821=)
c.2330G= (p.Gly777=)
c.2327G= (p.Gly776=)
c.2411G= (p.Gly804=)
c.2342G= (p.Gly781=)
c.1325G= (p.Gly442=)
12g.55693184C>GCA385181554ITGA7c.*2293G>C (n.*2293G>C)
c.1340G>C
n.2084G>C
c.2195G>C (p.Gly732Ala)
c.2681G>C (p.Gly894Ala)
c.*2380G>C (n.*2380G>C)
n.775G>C
c.*1153G>C (n.*1153G>C)
c.1482G>C
c.2652+29G>C (n.2652+29G>C)
c.2669G>C (p.Gly890Ala)
c.2651G>C (p.Gly884Ala)
c.2390G>C (p.Gly797Ala)
c.734G>C
c.2801G>C (p.Gly934Ala)
c.2783G>C (p.Gly928Ala)
c.2462G>C (p.Gly821Ala)
c.2330G>C (p.Gly777Ala)
c.2327G>C (p.Gly776Ala)
c.2411G>C (p.Gly804Ala)
c.2342G>C (p.Gly781Ala)
c.1325G>C (p.Gly442Ala)
12g.55693184C>TCA6615514ITGA7c.*2293G>A (n.*2293G>A)
c.1340G>A
n.2084G>A
c.2195G>A (p.Gly732Glu)
c.2681G>A (p.Gly894Glu)
c.*2380G>A (n.*2380G>A)
n.775G>A
c.*1153G>A (n.*1153G>A)
c.1482G>A
c.2652+29G>A (n.2652+29G>A)
c.2669G>A (p.Gly890Glu)
c.2651G>A (p.Gly884Glu)
c.2390G>A (p.Gly797Glu)
c.734G>A
c.2801G>A (p.Gly934Glu)
c.2783G>A (p.Gly928Glu)
c.2462G>A (p.Gly821Glu)
c.2330G>A (p.Gly777Glu)
c.2327G>A (p.Gly776Glu)
c.2411G>A (p.Gly804Glu)
c.2342G>A (p.Gly781Glu)
c.1325G>A (p.Gly442Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693185C>ACA385181555ITGA7c.*2292G>T (n.*2292G>T)
c.1339G>T
n.2083G>T
c.2194G>T (p.Gly732Trp)
c.2680G>T (p.Gly894Trp)
c.*2379G>T (n.*2379G>T)
n.774G>T
c.*1152G>T (n.*1152G>T)
c.1481G>T
c.2652+28G>T (n.2652+28G>T)
c.2668G>T (p.Gly890Trp)
c.2650G>T (p.Gly884Trp)
c.2389G>T (p.Gly797Trp)
c.733G>T
c.2800G>T (p.Gly934Trp)
c.2782G>T (p.Gly928Trp)
c.2461G>T (p.Gly821Trp)
c.2329G>T (p.Gly777Trp)
c.2326G>T (p.Gly776Trp)
c.2410G>T (p.Gly804Trp)
c.2341G>T (p.Gly781Trp)
c.1324G>T (p.Gly442Trp)
12g.55693185C>GCA385181556ITGA7c.*2292G>C (n.*2292G>C)
c.1339G>C
n.2083G>C
c.2194G>C (p.Gly732Arg)
c.2680G>C (p.Gly894Arg)
c.*2379G>C (n.*2379G>C)
n.774G>C
c.*1152G>C (n.*1152G>C)
c.1481G>C
c.2652+28G>C (n.2652+28G>C)
c.2668G>C (p.Gly890Arg)
c.2650G>C (p.Gly884Arg)
c.2389G>C (p.Gly797Arg)
c.733G>C
c.2800G>C (p.Gly934Arg)
c.2782G>C (p.Gly928Arg)
c.2461G>C (p.Gly821Arg)
c.2329G>C (p.Gly777Arg)
c.2326G>C (p.Gly776Arg)
c.2410G>C (p.Gly804Arg)
c.2341G>C (p.Gly781Arg)
c.1324G>C (p.Gly442Arg)
12g.55693185C>TCA385181557ITGA7c.*2292G>A (n.*2292G>A)
c.1339G>A
n.2083G>A
c.2194G>A (p.Gly732Arg)
c.2680G>A (p.Gly894Arg)
c.*2379G>A (n.*2379G>A)
n.774G>A
c.*1152G>A (n.*1152G>A)
c.1481G>A
c.2652+28G>A (n.2652+28G>A)
c.2668G>A (p.Gly890Arg)
c.2650G>A (p.Gly884Arg)
c.2389G>A (p.Gly797Arg)
c.733G>A
c.2800G>A (p.Gly934Arg)
c.2782G>A (p.Gly928Arg)
c.2461G>A (p.Gly821Arg)
c.2329G>A (p.Gly777Arg)
c.2326G>A (p.Gly776Arg)
c.2410G>A (p.Gly804Arg)
c.2341G>A (p.Gly781Arg)
c.1324G>A (p.Gly442Arg)
12g.55693186A=CA2038035761ITGA7c.*2291T= (n.*2291T=)
c.1338T=
n.2082T=
c.2193T= (p.Pro731=)
c.2679T= (p.Pro893=)
c.*2378T= (n.*2378T=)
n.773T=
c.*1151T= (n.*1151T=)
c.1480T=
c.2652+27T= (n.2652+27T=)
c.2667T= (p.Pro889=)
c.2649T= (p.Pro883=)
c.2388T= (p.Pro796=)
c.732T=
c.2799T= (p.Pro933=)
c.2781T= (p.Pro927=)
c.2460T= (p.Pro820=)
c.2328T= (p.Pro776=)
c.2325T= (p.Pro775=)
c.2409T= (p.Pro803=)
c.2340T= (p.Pro780=)
c.1323T= (p.Pro441=)
12g.55693186A>CCA480145280ITGA7c.*2291T>G (n.*2291T>G)
c.1338T>G
n.2082T>G
c.2193T>G (p.Pro731=)
c.2679T>G (p.Pro893=)
c.*2378T>G (n.*2378T>G)
n.773T>G
c.*1151T>G (n.*1151T>G)
c.1480T>G
c.2652+27T>G (n.2652+27T>G)
c.2667T>G (p.Pro889=)
c.2649T>G (p.Pro883=)
c.2388T>G (p.Pro796=)
c.732T>G
c.2799T>G (p.Pro933=)
c.2781T>G (p.Pro927=)
c.2460T>G (p.Pro820=)
c.2328T>G (p.Pro776=)
c.2325T>G (p.Pro775=)
c.2409T>G (p.Pro803=)
c.2340T>G (p.Pro780=)
c.1323T>G (p.Pro441=)
12g.55693186A>GCA480145282ITGA7c.*2291T>C (n.*2291T>C)
c.1338T>C
n.2082T>C
c.2193T>C (p.Pro731=)
c.2679T>C (p.Pro893=)
c.*2378T>C (n.*2378T>C)
n.773T>C
c.*1151T>C (n.*1151T>C)
c.1480T>C
c.2652+27T>C (n.2652+27T>C)
c.2667T>C (p.Pro889=)
c.2649T>C (p.Pro883=)
c.2388T>C (p.Pro796=)
c.732T>C
c.2799T>C (p.Pro933=)
c.2781T>C (p.Pro927=)
c.2460T>C (p.Pro820=)
c.2328T>C (p.Pro776=)
c.2325T>C (p.Pro775=)
c.2409T>C (p.Pro803=)
c.2340T>C (p.Pro780=)
c.1323T>C (p.Pro441=)
 gnomAD v4
12g.55693186A>TCA6615515ITGA7c.*2291T>A (n.*2291T>A)
c.1338T>A
n.2082T>A
c.2193T>A (p.Pro731=)
c.2679T>A (p.Pro893=)
c.*2378T>A (n.*2378T>A)
n.773T>A
c.*1151T>A (n.*1151T>A)
c.1480T>A
c.2652+27T>A (n.2652+27T>A)
c.2667T>A (p.Pro889=)
c.2649T>A (p.Pro883=)
c.2388T>A (p.Pro796=)
c.732T>A
c.2799T>A (p.Pro933=)
c.2781T>A (p.Pro927=)
c.2460T>A (p.Pro820=)
c.2328T>A (p.Pro776=)
c.2325T>A (p.Pro775=)
c.2409T>A (p.Pro803=)
c.2340T>A (p.Pro780=)
c.1323T>A (p.Pro441=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693187G>ACA385181558ITGA7c.*2290C>T (n.*2290C>T)
c.1337C>T
n.2081C>T
c.2192C>T (p.Pro731Leu)
c.2678C>T (p.Pro893Leu)
c.*2377C>T (n.*2377C>T)
n.772C>T
c.*1150C>T (n.*1150C>T)
c.1479C>T
c.2652+26C>T (n.2652+26C>T)
c.2666C>T (p.Pro889Leu)
c.2648C>T (p.Pro883Leu)
c.2387C>T (p.Pro796Leu)
c.731C>T
c.2798C>T (p.Pro933Leu)
c.2780C>T (p.Pro927Leu)
c.2459C>T (p.Pro820Leu)
c.2327C>T (p.Pro776Leu)
c.2324C>T (p.Pro775Leu)
c.2408C>T (p.Pro803Leu)
c.2339C>T (p.Pro780Leu)
c.1322C>T (p.Pro441Leu)
12g.55693187G>CCA385181560ITGA7c.*2290C>G (n.*2290C>G)
c.1337C>G
n.2081C>G
c.2192C>G (p.Pro731Arg)
c.2678C>G (p.Pro893Arg)
c.*2377C>G (n.*2377C>G)
n.772C>G
c.*1150C>G (n.*1150C>G)
c.1479C>G
c.2652+26C>G (n.2652+26C>G)
c.2666C>G (p.Pro889Arg)
c.2648C>G (p.Pro883Arg)
c.2387C>G (p.Pro796Arg)
c.731C>G
c.2798C>G (p.Pro933Arg)
c.2780C>G (p.Pro927Arg)
c.2459C>G (p.Pro820Arg)
c.2327C>G (p.Pro776Arg)
c.2324C>G (p.Pro775Arg)
c.2408C>G (p.Pro803Arg)
c.2339C>G (p.Pro780Arg)
c.1322C>G (p.Pro441Arg)
12g.55693187G>TCA385181559ITGA7c.*2290C>A (n.*2290C>A)
c.1337C>A
n.2081C>A
c.2192C>A (p.Pro731His)
c.2678C>A (p.Pro893His)
c.*2377C>A (n.*2377C>A)
n.772C>A
c.*1150C>A (n.*1150C>A)
c.1479C>A
c.2652+26C>A (n.2652+26C>A)
c.2666C>A (p.Pro889His)
c.2648C>A (p.Pro883His)
c.2387C>A (p.Pro796His)
c.731C>A
c.2798C>A (p.Pro933His)
c.2780C>A (p.Pro927His)
c.2459C>A (p.Pro820His)
c.2327C>A (p.Pro776His)
c.2324C>A (p.Pro775His)
c.2408C>A (p.Pro803His)
c.2339C>A (p.Pro780His)
c.1322C>A (p.Pro441His)
 COSMIC COSMIC COSMIC COSMIC
12g.55693188G>ACA385181561ITGA7c.*2289C>T (n.*2289C>T)
c.1336C>T
n.2080C>T
c.2191C>T (p.Pro731Ser)
c.2677C>T (p.Pro893Ser)
c.*2376C>T (n.*2376C>T)
n.771C>T
c.*1149C>T (n.*1149C>T)
c.1478C>T
c.2652+25C>T (n.2652+25C>T)
c.2665C>T (p.Pro889Ser)
c.2647C>T (p.Pro883Ser)
c.2386C>T (p.Pro796Ser)
c.730C>T
c.2797C>T (p.Pro933Ser)
c.2779C>T (p.Pro927Ser)
c.2458C>T (p.Pro820Ser)
c.2326C>T (p.Pro776Ser)
c.2323C>T (p.Pro775Ser)
c.2407C>T (p.Pro803Ser)
c.2338C>T (p.Pro780Ser)
c.1321C>T (p.Pro441Ser)
 gnomAD v4
12g.55693188G>CCA385181562ITGA7c.*2289C>G (n.*2289C>G)
c.1336C>G
n.2080C>G
c.2191C>G (p.Pro731Ala)
c.2677C>G (p.Pro893Ala)
c.*2376C>G (n.*2376C>G)
n.771C>G
c.*1149C>G (n.*1149C>G)
c.1478C>G
c.2652+25C>G (n.2652+25C>G)
c.2665C>G (p.Pro889Ala)
c.2647C>G (p.Pro883Ala)
c.2386C>G (p.Pro796Ala)
c.730C>G
c.2797C>G (p.Pro933Ala)
c.2779C>G (p.Pro927Ala)
c.2458C>G (p.Pro820Ala)
c.2326C>G (p.Pro776Ala)
c.2323C>G (p.Pro775Ala)
c.2407C>G (p.Pro803Ala)
c.2338C>G (p.Pro780Ala)
c.1321C>G (p.Pro441Ala)
 dbSNP
12g.55693188G=CA2038035764ITGA7c.*2289C= (n.*2289C=)
c.1336C=
n.2080C=
c.2191C= (p.Pro731=)
c.2677C= (p.Pro893=)
c.*2376C= (n.*2376C=)
n.771C=
c.*1149C= (n.*1149C=)
c.1478C=
c.2652+25C= (n.2652+25C=)
c.2665C= (p.Pro889=)
c.2647C= (p.Pro883=)
c.2386C= (p.Pro796=)
c.730C=
c.2797C= (p.Pro933=)
c.2779C= (p.Pro927=)
c.2458C= (p.Pro820=)
c.2326C= (p.Pro776=)
c.2323C= (p.Pro775=)
c.2407C= (p.Pro803=)
c.2338C= (p.Pro780=)
c.1321C= (p.Pro441=)
12g.55693188G>TCA385181563ITGA7c.*2289C>A (n.*2289C>A)
c.1336C>A
n.2080C>A
c.2191C>A (p.Pro731Thr)
c.2677C>A (p.Pro893Thr)
c.*2376C>A (n.*2376C>A)
n.771C>A
c.*1149C>A (n.*1149C>A)
c.1478C>A
c.2652+25C>A (n.2652+25C>A)
c.2665C>A (p.Pro889Thr)
c.2647C>A (p.Pro883Thr)
c.2386C>A (p.Pro796Thr)
c.730C>A
c.2797C>A (p.Pro933Thr)
c.2779C>A (p.Pro927Thr)
c.2458C>A (p.Pro820Thr)
c.2326C>A (p.Pro776Thr)
c.2323C>A (p.Pro775Thr)
c.2407C>A (p.Pro803Thr)
c.2338C>A (p.Pro780Thr)
c.1321C>A (p.Pro441Thr)
12g.55693189C>ACA480145289ITGA7c.*2288G>T (n.*2288G>T)
c.1335G>T
n.2079G>T
c.2190G>T (p.Gly730=)
c.2676G>T (p.Gly892=)
c.*2375G>T (n.*2375G>T)
n.770G>T
c.*1148G>T (n.*1148G>T)
c.1477G>T
c.2652+24G>T (n.2652+24G>T)
c.2664G>T (p.Gly888=)
c.2646G>T (p.Gly882=)
c.2385G>T (p.Gly795=)
c.729G>T
c.2796G>T (p.Gly932=)
c.2778G>T (p.Gly926=)
c.2457G>T (p.Gly819=)
c.2325G>T (p.Gly775=)
c.2322G>T (p.Gly774=)
c.2406G>T (p.Gly802=)
c.2337G>T (p.Gly779=)
c.1320G>T (p.Gly440=)
12g.55693189C>GCA480145291ITGA7c.*2288G>C (n.*2288G>C)
c.1335G>C
n.2079G>C
c.2190G>C (p.Gly730=)
c.2676G>C (p.Gly892=)
c.*2375G>C (n.*2375G>C)
n.770G>C
c.*1148G>C (n.*1148G>C)
c.1477G>C
c.2652+24G>C (n.2652+24G>C)
c.2664G>C (p.Gly888=)
c.2646G>C (p.Gly882=)
c.2385G>C (p.Gly795=)
c.729G>C
c.2796G>C (p.Gly932=)
c.2778G>C (p.Gly926=)
c.2457G>C (p.Gly819=)
c.2325G>C (p.Gly775=)
c.2322G>C (p.Gly774=)
c.2406G>C (p.Gly802=)
c.2337G>C (p.Gly779=)
c.1320G>C (p.Gly440=)
12g.55693189C>TCA480145293ITGA7c.*2288G>A (n.*2288G>A)
c.1335G>A
n.2079G>A
c.2190G>A (p.Gly730=)
c.2676G>A (p.Gly892=)
c.*2375G>A (n.*2375G>A)
n.770G>A
c.*1148G>A (n.*1148G>A)
c.1477G>A
c.2652+24G>A (n.2652+24G>A)
c.2664G>A (p.Gly888=)
c.2646G>A (p.Gly882=)
c.2385G>A (p.Gly795=)
c.729G>A
c.2796G>A (p.Gly932=)
c.2778G>A (p.Gly926=)
c.2457G>A (p.Gly819=)
c.2325G>A (p.Gly775=)
c.2322G>A (p.Gly774=)
c.2406G>A (p.Gly802=)
c.2337G>A (p.Gly779=)
c.1320G>A (p.Gly440=)
12g.55693192dupCA2038035773ITGA7c.*2288dup (n.*2288dup)
c.1335dup
n.2079dup
c.2190dup (p.Pro731AlafsTer21)
c.2676dup (p.Pro893AlafsTer21)
c.*2375dup (n.*2375dup)
n.770dup
c.*1148dup (n.*1148dup)
c.1477dup
c.2652+24dup (n.2652+24dup)
c.2664dup (p.Pro889AlafsTer21)
c.2646dup (p.Pro883AlafsTer21)
c.2385dup (p.Pro796AlafsTer21)
c.729dup
c.2796dup (p.Pro933AlafsTer21)
c.2778dup (p.Pro927AlafsTer21)
c.2457dup (p.Pro820AlafsTer21)
c.2325dup (p.Pro776AlafsTer21)
c.2322dup (p.Pro775AlafsTer21)
c.2406dup (p.Pro803AlafsTer21)
c.2337dup (p.Pro780AlafsTer21)
c.1320dup (p.Pro441AlafsTer21)
 dbSNP
12g.55693190C>ACA385181564ITGA7c.*2287G>T (n.*2287G>T)
c.1334G>T
n.2078G>T
c.2189G>T (p.Gly730Val)
c.2675G>T (p.Gly892Val)
c.*2374G>T (n.*2374G>T)
n.769G>T
c.*1147G>T (n.*1147G>T)
c.1476G>T
c.2652+23G>T (n.2652+23G>T)
c.2663G>T (p.Gly888Val)
c.2645G>T (p.Gly882Val)
c.2384G>T (p.Gly795Val)
c.728G>T
c.2795G>T (p.Gly932Val)
c.2777G>T (p.Gly926Val)
c.2456G>T (p.Gly819Val)
c.2324G>T (p.Gly775Val)
c.2321G>T (p.Gly774Val)
c.2405G>T (p.Gly802Val)
c.2336G>T (p.Gly779Val)
c.1319G>T (p.Gly440Val)
12g.55693190C=CA2038035782ITGA7c.*2287G= (n.*2287G=)
c.1334G=
n.2078G=
c.2189G= (p.Gly730=)
c.2675G= (p.Gly892=)
c.*2374G= (n.*2374G=)
n.769G=
c.*1147G= (n.*1147G=)
c.1476G=
c.2652+23G= (n.2652+23G=)
c.2663G= (p.Gly888=)
c.2645G= (p.Gly882=)
c.2384G= (p.Gly795=)
c.728G=
c.2795G= (p.Gly932=)
c.2777G= (p.Gly926=)
c.2456G= (p.Gly819=)
c.2324G= (p.Gly775=)
c.2321G= (p.Gly774=)
c.2405G= (p.Gly802=)
c.2336G= (p.Gly779=)
c.1319G= (p.Gly440=)
12g.55693190C>GCA385181565ITGA7c.*2287G>C (n.*2287G>C)
c.1334G>C
n.2078G>C
c.2189G>C (p.Gly730Ala)
c.2675G>C (p.Gly892Ala)
c.*2374G>C (n.*2374G>C)
n.769G>C
c.*1147G>C (n.*1147G>C)
c.1476G>C
c.2652+23G>C (n.2652+23G>C)
c.2663G>C (p.Gly888Ala)
c.2645G>C (p.Gly882Ala)
c.2384G>C (p.Gly795Ala)
c.728G>C
c.2795G>C (p.Gly932Ala)
c.2777G>C (p.Gly926Ala)
c.2456G>C (p.Gly819Ala)
c.2324G>C (p.Gly775Ala)
c.2321G>C (p.Gly774Ala)
c.2405G>C (p.Gly802Ala)
c.2336G>C (p.Gly779Ala)
c.1319G>C (p.Gly440Ala)
 dbSNP
12g.55693190C>TCA10575979ITGA7c.*2287G>A (n.*2287G>A)
c.1334G>A
n.2078G>A
c.2189G>A (p.Gly730Glu)
c.2675G>A (p.Gly892Glu)
c.*2374G>A (n.*2374G>A)
n.769G>A
c.*1147G>A (n.*1147G>A)
c.1476G>A
c.2652+23G>A (n.2652+23G>A)
c.2663G>A (p.Gly888Glu)
c.2645G>A (p.Gly882Glu)
c.2384G>A (p.Gly795Glu)
c.728G>A
c.2795G>A (p.Gly932Glu)
c.2777G>A (p.Gly926Glu)
c.2456G>A (p.Gly819Glu)
c.2324G>A (p.Gly775Glu)
c.2321G>A (p.Gly774Glu)
c.2405G>A (p.Gly802Glu)
c.2336G>A (p.Gly779Glu)
c.1319G>A (p.Gly440Glu)
 ClinVar dbSNP
12g.55693191C>ACA385181566ITGA7c.*2286G>T (n.*2286G>T)
c.1333G>T
n.2077G>T
c.2188G>T (p.Gly730Trp)
c.2674G>T (p.Gly892Trp)
c.*2373G>T (n.*2373G>T)
n.768G>T
c.*1146G>T (n.*1146G>T)
c.1475G>T
c.2652+22G>T (n.2652+22G>T)
c.2662G>T (p.Gly888Trp)
c.2644G>T (p.Gly882Trp)
c.2383G>T (p.Gly795Trp)
c.727G>T
c.2794G>T (p.Gly932Trp)
c.2776G>T (p.Gly926Trp)
c.2455G>T (p.Gly819Trp)
c.2323G>T (p.Gly775Trp)
c.2320G>T (p.Gly774Trp)
c.2404G>T (p.Gly802Trp)
c.2335G>T (p.Gly779Trp)
c.1318G>T (p.Gly440Trp)
12g.55693191C=CA2038035792ITGA7c.*2286G= (n.*2286G=)
c.1333G=
n.2077G=
c.2188G= (p.Gly730=)
c.2674G= (p.Gly892=)
c.*2373G= (n.*2373G=)
n.768G=
c.*1146G= (n.*1146G=)
c.1475G=
c.2652+22G= (n.2652+22G=)
c.2662G= (p.Gly888=)
c.2644G= (p.Gly882=)
c.2383G= (p.Gly795=)
c.727G=
c.2794G= (p.Gly932=)
c.2776G= (p.Gly926=)
c.2455G= (p.Gly819=)
c.2323G= (p.Gly775=)
c.2320G= (p.Gly774=)
c.2404G= (p.Gly802=)
c.2335G= (p.Gly779=)
c.1318G= (p.Gly440=)
12g.55693191C>GCA6615516ITGA7c.*2286G>C (n.*2286G>C)
c.1333G>C
n.2077G>C
c.2188G>C (p.Gly730Arg)
c.2674G>C (p.Gly892Arg)
c.*2373G>C (n.*2373G>C)
n.768G>C
c.*1146G>C (n.*1146G>C)
c.1475G>C
c.2652+22G>C (n.2652+22G>C)
c.2662G>C (p.Gly888Arg)
c.2644G>C (p.Gly882Arg)
c.2383G>C (p.Gly795Arg)
c.727G>C
c.2794G>C (p.Gly932Arg)
c.2776G>C (p.Gly926Arg)
c.2455G>C (p.Gly819Arg)
c.2323G>C (p.Gly775Arg)
c.2320G>C (p.Gly774Arg)
c.2404G>C (p.Gly802Arg)
c.2335G>C (p.Gly779Arg)
c.1318G>C (p.Gly440Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693191C>TCA385181567ITGA7c.*2286G>A (n.*2286G>A)
c.1333G>A
n.2077G>A
c.2188G>A (p.Gly730Arg)
c.2674G>A (p.Gly892Arg)
c.*2373G>A (n.*2373G>A)
n.768G>A
c.*1146G>A (n.*1146G>A)
c.1475G>A
c.2652+22G>A (n.2652+22G>A)
c.2662G>A (p.Gly888Arg)
c.2644G>A (p.Gly882Arg)
c.2383G>A (p.Gly795Arg)
c.727G>A
c.2794G>A (p.Gly932Arg)
c.2776G>A (p.Gly926Arg)
c.2455G>A (p.Gly819Arg)
c.2323G>A (p.Gly775Arg)
c.2320G>A (p.Gly774Arg)
c.2404G>A (p.Gly802Arg)
c.2335G>A (p.Gly779Arg)
c.1318G>A (p.Gly440Arg)
12g.55693192C>ACA385181568ITGA7c.*2285G>T (n.*2285G>T)
c.1332G>T
n.2076G>T
c.2187G>T (p.Gln729His)
c.2673G>T (p.Gln891His)
c.*2372G>T (n.*2372G>T)
n.767G>T
c.*1145G>T (n.*1145G>T)
c.1474G>T
c.2652+21G>T (n.2652+21G>T)
c.2661G>T (p.Gln887His)
c.2643G>T (p.Gln881His)
c.2382G>T (p.Gln794His)
c.726G>T
c.2793G>T (p.Gln931His)
c.2775G>T (p.Gln925His)
c.2454G>T (p.Gln818His)
c.2322G>T (p.Gln774His)
c.2319G>T (p.Gln773His)
c.2403G>T (p.Gln801His)
c.2334G>T (p.Gln778His)
c.1317G>T (p.Gln439His)
12g.55693192C>GCA385181569ITGA7c.*2285G>C (n.*2285G>C)
c.1332G>C
n.2076G>C
c.2187G>C (p.Gln729His)
c.2673G>C (p.Gln891His)
c.*2372G>C (n.*2372G>C)
n.767G>C
c.*1145G>C (n.*1145G>C)
c.1474G>C
c.2652+21G>C (n.2652+21G>C)
c.2661G>C (p.Gln887His)
c.2643G>C (p.Gln881His)
c.2382G>C (p.Gln794His)
c.726G>C
c.2793G>C (p.Gln931His)
c.2775G>C (p.Gln925His)
c.2454G>C (p.Gln818His)
c.2322G>C (p.Gln774His)
c.2319G>C (p.Gln773His)
c.2403G>C (p.Gln801His)
c.2334G>C (p.Gln778His)
c.1317G>C (p.Gln439His)
12g.55693192C>TCA480145302ITGA7c.*2285G>A (n.*2285G>A)
c.1332G>A
n.2076G>A
c.2187G>A (p.Gln729=)
c.2673G>A (p.Gln891=)
c.*2372G>A (n.*2372G>A)
n.767G>A
c.*1145G>A (n.*1145G>A)
c.1474G>A
c.2652+21G>A (n.2652+21G>A)
c.2661G>A (p.Gln887=)
c.2643G>A (p.Gln881=)
c.2382G>A (p.Gln794=)
c.726G>A
c.2793G>A (p.Gln931=)
c.2775G>A (p.Gln925=)
c.2454G>A (p.Gln818=)
c.2322G>A (p.Gln774=)
c.2319G>A (p.Gln773=)
c.2403G>A (p.Gln801=)
c.2334G>A (p.Gln778=)
c.1317G>A (p.Gln439=)
12g.55693193T>ACA385181570ITGA7c.*2284A>T (n.*2284A>T)
c.1331A>T
n.2075A>T
c.2186A>T (p.Gln729Leu)
c.2672A>T (p.Gln891Leu)
c.*2371A>T (n.*2371A>T)
n.766A>T
c.*1144A>T (n.*1144A>T)
c.1473A>T
c.2652+20A>T (n.2652+20A>T)
c.2660A>T (p.Gln887Leu)
c.2642A>T (p.Gln881Leu)
c.2381A>T (p.Gln794Leu)
c.725A>T
c.2792A>T (p.Gln931Leu)
c.2774A>T (p.Gln925Leu)
c.2453A>T (p.Gln818Leu)
c.2321A>T (p.Gln774Leu)
c.2318A>T (p.Gln773Leu)
c.2402A>T (p.Gln801Leu)
c.2333A>T (p.Gln778Leu)
c.1316A>T (p.Gln439Leu)
12g.55693193T>CCA385181572ITGA7c.*2284A>G (n.*2284A>G)
c.1331A>G
n.2075A>G
c.2186A>G (p.Gln729Arg)
c.2672A>G (p.Gln891Arg)
c.*2371A>G (n.*2371A>G)
n.766A>G
c.*1144A>G (n.*1144A>G)
c.1473A>G
c.2652+20A>G (n.2652+20A>G)
c.2660A>G (p.Gln887Arg)
c.2642A>G (p.Gln881Arg)
c.2381A>G (p.Gln794Arg)
c.725A>G
c.2792A>G (p.Gln931Arg)
c.2774A>G (p.Gln925Arg)
c.2453A>G (p.Gln818Arg)
c.2321A>G (p.Gln774Arg)
c.2318A>G (p.Gln773Arg)
c.2402A>G (p.Gln801Arg)
c.2333A>G (p.Gln778Arg)
c.1316A>G (p.Gln439Arg)
12g.55693193T>GCA385181571ITGA7c.*2284A>C (n.*2284A>C)
c.1331A>C
n.2075A>C
c.2186A>C (p.Gln729Pro)
c.2672A>C (p.Gln891Pro)
c.*2371A>C (n.*2371A>C)
n.766A>C
c.*1144A>C (n.*1144A>C)
c.1473A>C
c.2652+20A>C (n.2652+20A>C)
c.2660A>C (p.Gln887Pro)
c.2642A>C (p.Gln881Pro)
c.2381A>C (p.Gln794Pro)
c.725A>C
c.2792A>C (p.Gln931Pro)
c.2774A>C (p.Gln925Pro)
c.2453A>C (p.Gln818Pro)
c.2321A>C (p.Gln774Pro)
c.2318A>C (p.Gln773Pro)
c.2402A>C (p.Gln801Pro)
c.2333A>C (p.Gln778Pro)
c.1316A>C (p.Gln439Pro)
12g.55693194G>ACA385181573ITGA7c.*2283C>T (n.*2283C>T)
c.1330C>T
n.2074C>T
c.2185C>T (p.Gln729Ter)
c.2671C>T (p.Gln891Ter)
c.*2370C>T (n.*2370C>T)
n.765C>T
c.*1143C>T (n.*1143C>T)
c.1472C>T
c.2652+19C>T (n.2652+19C>T)
c.2659C>T (p.Gln887Ter)
c.2641C>T (p.Gln881Ter)
c.2380C>T (p.Gln794Ter)
c.724C>T
c.2791C>T (p.Gln931Ter)
c.2773C>T (p.Gln925Ter)
c.2452C>T (p.Gln818Ter)
c.2320C>T (p.Gln774Ter)
c.2317C>T (p.Gln773Ter)
c.2401C>T (p.Gln801Ter)
c.2332C>T (p.Gln778Ter)
c.1315C>T (p.Gln439Ter)
 gnomAD v4
12g.55693194G>CCA385181574ITGA7c.*2283C>G (n.*2283C>G)
c.1330C>G
n.2074C>G
c.2185C>G (p.Gln729Glu)
c.2671C>G (p.Gln891Glu)
c.*2370C>G (n.*2370C>G)
n.765C>G
c.*1143C>G (n.*1143C>G)
c.1472C>G
c.2652+19C>G (n.2652+19C>G)
c.2659C>G (p.Gln887Glu)
c.2641C>G (p.Gln881Glu)
c.2380C>G (p.Gln794Glu)
c.724C>G
c.2791C>G (p.Gln931Glu)
c.2773C>G (p.Gln925Glu)
c.2452C>G (p.Gln818Glu)
c.2320C>G (p.Gln774Glu)
c.2317C>G (p.Gln773Glu)
c.2401C>G (p.Gln801Glu)
c.2332C>G (p.Gln778Glu)
c.1315C>G (p.Gln439Glu)
12g.55693194G=CA2038035798ITGA7c.*2283C= (n.*2283C=)
c.1330C=
n.2074C=
c.2185C= (p.Gln729=)
c.2671C= (p.Gln891=)
c.*2370C= (n.*2370C=)
n.765C=
c.*1143C= (n.*1143C=)
c.1472C=
c.2652+19C= (n.2652+19C=)
c.2659C= (p.Gln887=)
c.2641C= (p.Gln881=)
c.2380C= (p.Gln794=)
c.724C=
c.2791C= (p.Gln931=)
c.2773C= (p.Gln925=)
c.2452C= (p.Gln818=)
c.2320C= (p.Gln774=)
c.2317C= (p.Gln773=)
c.2401C= (p.Gln801=)
c.2332C= (p.Gln778=)
c.1315C= (p.Gln439=)
12g.55693194G>TCA237564089ITGA7c.*2283C>A (n.*2283C>A)
c.1330C>A
n.2074C>A
c.2185C>A (p.Gln729Lys)
c.2671C>A (p.Gln891Lys)
c.*2370C>A (n.*2370C>A)
n.765C>A
c.*1143C>A (n.*1143C>A)
c.1472C>A
c.2652+19C>A (n.2652+19C>A)
c.2659C>A (p.Gln887Lys)
c.2641C>A (p.Gln881Lys)
c.2380C>A (p.Gln794Lys)
c.724C>A
c.2791C>A (p.Gln931Lys)
c.2773C>A (p.Gln925Lys)
c.2452C>A (p.Gln818Lys)
c.2320C>A (p.Gln774Lys)
c.2317C>A (p.Gln773Lys)
c.2401C>A (p.Gln801Lys)
c.2332C>A (p.Gln778Lys)
c.1315C>A (p.Gln439Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55693195C>ACA480145309ITGA7c.*2282G>T (n.*2282G>T)
c.1329G>T
n.2073G>T
c.2184G>T (p.Gly728=)
c.2670G>T (p.Gly890=)
c.*2369G>T (n.*2369G>T)
n.764G>T
c.*1142G>T (n.*1142G>T)
c.1471G>T
c.2652+18G>T (n.2652+18G>T)
c.2658G>T (p.Gly886=)
c.2640G>T (p.Gly880=)
c.2379G>T (p.Gly793=)
c.723G>T
c.2790G>T (p.Gly930=)
c.2772G>T (p.Gly924=)
c.2451G>T (p.Gly817=)
c.2319G>T (p.Gly773=)
c.2316G>T (p.Gly772=)
c.2400G>T (p.Gly800=)
c.2331G>T (p.Gly777=)
c.1314G>T (p.Gly438=)
12g.55693195C>GCA480145311ITGA7c.*2282G>C (n.*2282G>C)
c.1329G>C
n.2073G>C
c.2184G>C (p.Gly728=)
c.2670G>C (p.Gly890=)
c.*2369G>C (n.*2369G>C)
n.764G>C
c.*1142G>C (n.*1142G>C)
c.1471G>C
c.2652+18G>C (n.2652+18G>C)
c.2658G>C (p.Gly886=)
c.2640G>C (p.Gly880=)
c.2379G>C (p.Gly793=)
c.723G>C
c.2790G>C (p.Gly930=)
c.2772G>C (p.Gly924=)
c.2451G>C (p.Gly817=)
c.2319G>C (p.Gly773=)
c.2316G>C (p.Gly772=)
c.2400G>C (p.Gly800=)
c.2331G>C (p.Gly777=)
c.1314G>C (p.Gly438=)
12g.55693195C>TCA480145313ITGA7c.*2282G>A (n.*2282G>A)
c.1329G>A
n.2073G>A
c.2184G>A (p.Gly728=)
c.2670G>A (p.Gly890=)
c.*2369G>A (n.*2369G>A)
n.764G>A
c.*1142G>A (n.*1142G>A)
c.1471G>A
c.2652+18G>A (n.2652+18G>A)
c.2658G>A (p.Gly886=)
c.2640G>A (p.Gly880=)
c.2379G>A (p.Gly793=)
c.723G>A
c.2790G>A (p.Gly930=)
c.2772G>A (p.Gly924=)
c.2451G>A (p.Gly817=)
c.2319G>A (p.Gly773=)
c.2316G>A (p.Gly772=)
c.2400G>A (p.Gly800=)
c.2331G>A (p.Gly777=)
c.1314G>A (p.Gly438=)
12g.55693196C>ACA385181575ITGA7c.*2281G>T (n.*2281G>T)
c.1328G>T
n.2072G>T
c.2183G>T (p.Gly728Val)
c.2669G>T (p.Gly890Val)
c.*2368G>T (n.*2368G>T)
n.763G>T
c.*1141G>T (n.*1141G>T)
c.1470G>T
c.2652+17G>T (n.2652+17G>T)
c.2657G>T (p.Gly886Val)
c.2639G>T (p.Gly880Val)
c.2378G>T (p.Gly793Val)
c.722G>T
c.2789G>T (p.Gly930Val)
c.2771G>T (p.Gly924Val)
c.2450G>T (p.Gly817Val)
c.2318G>T (p.Gly773Val)
c.2315G>T (p.Gly772Val)
c.2399G>T (p.Gly800Val)
c.2330G>T (p.Gly777Val)
c.1313G>T (p.Gly438Val)
12g.55693196C>GCA385181576ITGA7c.*2281G>C (n.*2281G>C)
c.1328G>C
n.2072G>C
c.2183G>C (p.Gly728Ala)
c.2669G>C (p.Gly890Ala)
c.*2368G>C (n.*2368G>C)
n.763G>C
c.*1141G>C (n.*1141G>C)
c.1470G>C
c.2652+17G>C (n.2652+17G>C)
c.2657G>C (p.Gly886Ala)
c.2639G>C (p.Gly880Ala)
c.2378G>C (p.Gly793Ala)
c.722G>C
c.2789G>C (p.Gly930Ala)
c.2771G>C (p.Gly924Ala)
c.2450G>C (p.Gly817Ala)
c.2318G>C (p.Gly773Ala)
c.2315G>C (p.Gly772Ala)
c.2399G>C (p.Gly800Ala)
c.2330G>C (p.Gly777Ala)
c.1313G>C (p.Gly438Ala)
12g.55693196C>TCA385181577ITGA7c.*2281G>A (n.*2281G>A)
c.1328G>A
n.2072G>A
c.2183G>A (p.Gly728Glu)
c.2669G>A (p.Gly890Glu)
c.*2368G>A (n.*2368G>A)
n.763G>A
c.*1141G>A (n.*1141G>A)
c.1470G>A
c.2652+17G>A (n.2652+17G>A)
c.2657G>A (p.Gly886Glu)
c.2639G>A (p.Gly880Glu)
c.2378G>A (p.Gly793Glu)
c.722G>A
c.2789G>A (p.Gly930Glu)
c.2771G>A (p.Gly924Glu)
c.2450G>A (p.Gly817Glu)
c.2318G>A (p.Gly773Glu)
c.2315G>A (p.Gly772Glu)
c.2399G>A (p.Gly800Glu)
c.2330G>A (p.Gly777Glu)
c.1313G>A (p.Gly438Glu)
 gnomAD v4
12g.55693197C>ACA385181578ITGA7c.*2280G>T (n.*2280G>T)
c.1327G>T
n.2071G>T
c.2182G>T (p.Gly728Trp)
c.2668G>T (p.Gly890Trp)
c.*2367G>T (n.*2367G>T)
n.762G>T
c.*1140G>T (n.*1140G>T)
c.1469G>T
c.2652+16G>T (n.2652+16G>T)
c.2656G>T (p.Gly886Trp)
c.2638G>T (p.Gly880Trp)
c.2377G>T (p.Gly793Trp)
c.721G>T
c.2788G>T (p.Gly930Trp)
c.2770G>T (p.Gly924Trp)
c.2449G>T (p.Gly817Trp)
c.2317G>T (p.Gly773Trp)
c.2314G>T (p.Gly772Trp)
c.2398G>T (p.Gly800Trp)
c.2329G>T (p.Gly777Trp)
c.1312G>T (p.Gly438Trp)
 gnomAD v4
12g.55693197C=CA2038035807ITGA7c.*2280G= (n.*2280G=)
c.1327G=
n.2071G=
c.2182G= (p.Gly728=)
c.2668G= (p.Gly890=)
c.*2367G= (n.*2367G=)
n.762G=
c.*1140G= (n.*1140G=)
c.1469G=
c.2652+16G= (n.2652+16G=)
c.2656G= (p.Gly886=)
c.2638G= (p.Gly880=)
c.2377G= (p.Gly793=)
c.721G=
c.2788G= (p.Gly930=)
c.2770G= (p.Gly924=)
c.2449G= (p.Gly817=)
c.2317G= (p.Gly773=)
c.2314G= (p.Gly772=)
c.2398G= (p.Gly800=)
c.2329G= (p.Gly777=)
c.1312G= (p.Gly438=)
12g.55693197C>GCA385181579ITGA7c.*2280G>C (n.*2280G>C)
c.1327G>C
n.2071G>C
c.2182G>C (p.Gly728Arg)
c.2668G>C (p.Gly890Arg)
c.*2367G>C (n.*2367G>C)
n.762G>C
c.*1140G>C (n.*1140G>C)
c.1469G>C
c.2652+16G>C (n.2652+16G>C)
c.2656G>C (p.Gly886Arg)
c.2638G>C (p.Gly880Arg)
c.2377G>C (p.Gly793Arg)
c.721G>C
c.2788G>C (p.Gly930Arg)
c.2770G>C (p.Gly924Arg)
c.2449G>C (p.Gly817Arg)
c.2317G>C (p.Gly773Arg)
c.2314G>C (p.Gly772Arg)
c.2398G>C (p.Gly800Arg)
c.2329G>C (p.Gly777Arg)
c.1312G>C (p.Gly438Arg)
12g.55693197C>TCA6615517ITGA7c.*2280G>A (n.*2280G>A)
c.1327G>A
n.2071G>A
c.2182G>A (p.Gly728Arg)
c.2668G>A (p.Gly890Arg)
c.*2367G>A (n.*2367G>A)
n.762G>A
c.*1140G>A (n.*1140G>A)
c.1469G>A
c.2652+16G>A (n.2652+16G>A)
c.2656G>A (p.Gly886Arg)
c.2638G>A (p.Gly880Arg)
c.2377G>A (p.Gly793Arg)
c.721G>A
c.2788G>A (p.Gly930Arg)
c.2770G>A (p.Gly924Arg)
c.2449G>A (p.Gly817Arg)
c.2317G>A (p.Gly773Arg)
c.2314G>A (p.Gly772Arg)
c.2398G>A (p.Gly800Arg)
c.2329G>A (p.Gly777Arg)
c.1312G>A (p.Gly438Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55693198G>ACA6615518ITGA7c.*2279C>T (n.*2279C>T)
c.1326C>T
n.2070C>T
c.2181C>T (p.Gly727=)
c.2667C>T (p.Gly889=)
c.*2366C>T (n.*2366C>T)
n.761C>T
c.*1139C>T (n.*1139C>T)
c.1468C>T
c.2652+15C>T (n.2652+15C>T)
c.2655C>T (p.Gly885=)
c.2637C>T (p.Gly879=)
c.2376C>T (p.Gly792=)
c.720C>T
c.2787C>T (p.Gly929=)
c.2769C>T (p.Gly923=)
c.2448C>T (p.Gly816=)
c.2316C>T (p.Gly772=)
c.2313C>T (p.Gly771=)
c.2397C>T (p.Gly799=)
c.2328C>T (p.Gly776=)
c.1311C>T (p.Gly437=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693198G>CCA480145318ITGA7c.*2279C>G (n.*2279C>G)
c.1326C>G
n.2070C>G
c.2181C>G (p.Gly727=)
c.2667C>G (p.Gly889=)
c.*2366C>G (n.*2366C>G)
n.761C>G
c.*1139C>G (n.*1139C>G)
c.1468C>G
c.2652+15C>G (n.2652+15C>G)
c.2655C>G (p.Gly885=)
c.2637C>G (p.Gly879=)
c.2376C>G (p.Gly792=)
c.720C>G
c.2787C>G (p.Gly929=)
c.2769C>G (p.Gly923=)
c.2448C>G (p.Gly816=)
c.2316C>G (p.Gly772=)
c.2313C>G (p.Gly771=)
c.2397C>G (p.Gly799=)
c.2328C>G (p.Gly776=)
c.1311C>G (p.Gly437=)
 dbSNP gnomAD v2 gnomAD v4
12g.55693198G=CA2038035814ITGA7c.*2279C= (n.*2279C=)
c.1326C=
n.2070C=
c.2181C= (p.Gly727=)
c.2667C= (p.Gly889=)
c.*2366C= (n.*2366C=)
n.761C=
c.*1139C= (n.*1139C=)
c.1468C=
c.2652+15C= (n.2652+15C=)
c.2655C= (p.Gly885=)
c.2637C= (p.Gly879=)
c.2376C= (p.Gly792=)
c.720C=
c.2787C= (p.Gly929=)
c.2769C= (p.Gly923=)
c.2448C= (p.Gly816=)
c.2316C= (p.Gly772=)
c.2313C= (p.Gly771=)
c.2397C= (p.Gly799=)
c.2328C= (p.Gly776=)
c.1311C= (p.Gly437=)
12g.55693198G>TCA480145321ITGA7c.*2279C>A (n.*2279C>A)
c.1326C>A
n.2070C>A
c.2181C>A (p.Gly727=)
c.2667C>A (p.Gly889=)
c.*2366C>A (n.*2366C>A)
n.761C>A
c.*1139C>A (n.*1139C>A)
c.1468C>A
c.2652+15C>A (n.2652+15C>A)
c.2655C>A (p.Gly885=)
c.2637C>A (p.Gly879=)
c.2376C>A (p.Gly792=)
c.720C>A
c.2787C>A (p.Gly929=)
c.2769C>A (p.Gly923=)
c.2448C>A (p.Gly816=)
c.2316C>A (p.Gly772=)
c.2313C>A (p.Gly771=)
c.2397C>A (p.Gly799=)
c.2328C>A (p.Gly776=)
c.1311C>A (p.Gly437=)
 COSMIC COSMIC COSMIC COSMIC
12g.55693199C>ACA385181580ITGA7c.*2278G>T (n.*2278G>T)
c.1325G>T
n.2069G>T
c.2180G>T (p.Gly727Val)
c.2666G>T (p.Gly889Val)
c.*2365G>T (n.*2365G>T)
n.760G>T
c.*1138G>T (n.*1138G>T)
c.1467G>T
c.2652+14G>T (n.2652+14G>T)
c.2654G>T (p.Gly885Val)
c.2636G>T (p.Gly879Val)
c.2375G>T (p.Gly792Val)
c.719G>T
c.2786G>T (p.Gly929Val)
c.2768G>T (p.Gly923Val)
c.2447G>T (p.Gly816Val)
c.2315G>T (p.Gly772Val)
c.2312G>T (p.Gly771Val)
c.2396G>T (p.Gly799Val)
c.2327G>T (p.Gly776Val)
c.1310G>T (p.Gly437Val)
12g.55693199C=CA2038035824ITGA7c.*2278G= (n.*2278G=)
c.1325G=
n.2069G=
c.2180G= (p.Gly727=)
c.2666G= (p.Gly889=)
c.*2365G= (n.*2365G=)
n.760G=
c.*1138G= (n.*1138G=)
c.1467G=
c.2652+14G= (n.2652+14G=)
c.2654G= (p.Gly885=)
c.2636G= (p.Gly879=)
c.2375G= (p.Gly792=)
c.719G=
c.2786G= (p.Gly929=)
c.2768G= (p.Gly923=)
c.2447G= (p.Gly816=)
c.2315G= (p.Gly772=)
c.2312G= (p.Gly771=)
c.2396G= (p.Gly799=)
c.2327G= (p.Gly776=)
c.1310G= (p.Gly437=)
12g.55693199C>GCA385181581ITGA7c.*2278G>C (n.*2278G>C)
c.1325G>C
n.2069G>C
c.2180G>C (p.Gly727Ala)
c.2666G>C (p.Gly889Ala)
c.*2365G>C (n.*2365G>C)
n.760G>C
c.*1138G>C (n.*1138G>C)
c.1467G>C
c.2652+14G>C (n.2652+14G>C)
c.2654G>C (p.Gly885Ala)
c.2636G>C (p.Gly879Ala)
c.2375G>C (p.Gly792Ala)
c.719G>C
c.2786G>C (p.Gly929Ala)
c.2768G>C (p.Gly923Ala)
c.2447G>C (p.Gly816Ala)
c.2315G>C (p.Gly772Ala)
c.2312G>C (p.Gly771Ala)
c.2396G>C (p.Gly799Ala)
c.2327G>C (p.Gly776Ala)
c.1310G>C (p.Gly437Ala)
12g.55693199C>TCA385181582ITGA7c.*2278G>A (n.*2278G>A)
c.1325G>A
n.2069G>A
c.2180G>A (p.Gly727Asp)
c.2666G>A (p.Gly889Asp)
c.*2365G>A (n.*2365G>A)
n.760G>A
c.*1138G>A (n.*1138G>A)
c.1467G>A
c.2652+14G>A (n.2652+14G>A)
c.2654G>A (p.Gly885Asp)
c.2636G>A (p.Gly879Asp)
c.2375G>A (p.Gly792Asp)
c.719G>A
c.2786G>A (p.Gly929Asp)
c.2768G>A (p.Gly923Asp)
c.2447G>A (p.Gly816Asp)
c.2315G>A (p.Gly772Asp)
c.2312G>A (p.Gly771Asp)
c.2396G>A (p.Gly799Asp)
c.2327G>A (p.Gly776Asp)
c.1310G>A (p.Gly437Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55693200C>ACA385181583ITGA7c.*2277G>T (n.*2277G>T)
c.1324G>T
n.2068G>T
c.2179G>T (p.Gly727Cys)
c.2665G>T (p.Gly889Cys)
c.*2364G>T (n.*2364G>T)
n.759G>T
c.*1137G>T (n.*1137G>T)
c.1466G>T
c.2652+13G>T (n.2652+13G>T)
c.2653G>T (p.Gly885Cys)
c.2635G>T (p.Gly879Cys)
c.2374G>T (p.Gly792Cys)
c.718G>T
c.2785G>T (p.Gly929Cys)
c.2767G>T (p.Gly923Cys)
c.2446G>T (p.Gly816Cys)
c.2314G>T (p.Gly772Cys)
c.2311G>T (p.Gly771Cys)
c.2395G>T (p.Gly799Cys)
c.2326G>T (p.Gly776Cys)
c.1309G>T (p.Gly437Cys)
12g.55693200C>GCA385181585ITGA7c.*2277G>C (n.*2277G>C)
c.1324G>C
n.2068G>C
c.2179G>C (p.Gly727Arg)
c.2665G>C (p.Gly889Arg)
c.*2364G>C (n.*2364G>C)
n.759G>C
c.*1137G>C (n.*1137G>C)
c.1466G>C
c.2652+13G>C (n.2652+13G>C)
c.2653G>C (p.Gly885Arg)
c.2635G>C (p.Gly879Arg)
c.2374G>C (p.Gly792Arg)
c.718G>C
c.2785G>C (p.Gly929Arg)
c.2767G>C (p.Gly923Arg)
c.2446G>C (p.Gly816Arg)
c.2314G>C (p.Gly772Arg)
c.2311G>C (p.Gly771Arg)
c.2395G>C (p.Gly799Arg)
c.2326G>C (p.Gly776Arg)
c.1309G>C (p.Gly437Arg)
12g.55693200C>TCA385181584ITGA7c.*2277G>A (n.*2277G>A)
c.1324G>A
n.2068G>A
c.2179G>A (p.Gly727Ser)
c.2665G>A (p.Gly889Ser)
c.*2364G>A (n.*2364G>A)
n.759G>A
c.*1137G>A (n.*1137G>A)
c.1466G>A
c.2652+13G>A (n.2652+13G>A)
c.2653G>A (p.Gly885Ser)
c.2635G>A (p.Gly879Ser)
c.2374G>A (p.Gly792Ser)
c.718G>A
c.2785G>A (p.Gly929Ser)
c.2767G>A (p.Gly923Ser)
c.2446G>A (p.Gly816Ser)
c.2314G>A (p.Gly772Ser)
c.2311G>A (p.Gly771Ser)
c.2395G>A (p.Gly799Ser)
c.2326G>A (p.Gly776Ser)
c.1309G>A (p.Gly437Ser)
 COSMIC COSMIC COSMIC COSMIC
12g.55693201C>ACA385181586ITGA7c.*2276G>T (n.*2276G>T)
c.1323G>T
n.2067G>T
c.2178G>T (p.Glu726Asp)
c.2664G>T (p.Glu888Asp)
c.*2363G>T (n.*2363G>T)
n.758G>T
c.*1136G>T (n.*1136G>T)
c.1465G>T
c.2652+12G>T (n.2652+12G>T)
c.2652G>T (p.Glu884Asp)
c.2634G>T (p.Glu878Asp)
c.2373G>T (p.Glu791Asp)
c.717G>T
c.2784G>T (p.Glu928Asp)
c.2766G>T (p.Glu922Asp)
c.2445G>T (p.Glu815Asp)
c.2313G>T (p.Glu771Asp)
c.2310G>T (p.Glu770Asp)
c.2394G>T (p.Glu798Asp)
c.2325G>T (p.Glu775Asp)
c.1308G>T (p.Glu436Asp)
12g.55693201C=CA2038035826ITGA7c.*2276G= (n.*2276G=)
c.1323G=
n.2067G=
c.2178G= (p.Glu726=)
c.2664G= (p.Glu888=)
c.*2363G= (n.*2363G=)
n.758G=
c.*1136G= (n.*1136G=)
c.1465G=
c.2652+12G= (n.2652+12G=)
c.2652G= (p.Glu884=)
c.2634G= (p.Glu878=)
c.2373G= (p.Glu791=)
c.717G=
c.2784G= (p.Glu928=)
c.2766G= (p.Glu922=)
c.2445G= (p.Glu815=)
c.2313G= (p.Glu771=)
c.2310G= (p.Glu770=)
c.2394G= (p.Glu798=)
c.2325G= (p.Glu775=)
c.1308G= (p.Glu436=)
12g.55693201C>GCA385181587ITGA7c.*2276G>C (n.*2276G>C)
c.1323G>C
n.2067G>C
c.2178G>C (p.Glu726Asp)
c.2664G>C (p.Glu888Asp)
c.*2363G>C (n.*2363G>C)
n.758G>C
c.*1136G>C (n.*1136G>C)
c.1465G>C
c.2652+12G>C (n.2652+12G>C)
c.2652G>C (p.Glu884Asp)
c.2634G>C (p.Glu878Asp)
c.2373G>C (p.Glu791Asp)
c.717G>C
c.2784G>C (p.Glu928Asp)
c.2766G>C (p.Glu922Asp)
c.2445G>C (p.Glu815Asp)
c.2313G>C (p.Glu771Asp)
c.2310G>C (p.Glu770Asp)
c.2394G>C (p.Glu798Asp)
c.2325G>C (p.Glu775Asp)
c.1308G>C (p.Glu436Asp)
12g.55693201C>TCA480145330ITGA7c.*2276G>A (n.*2276G>A)
c.1323G>A
n.2067G>A
c.2178G>A (p.Glu726=)
c.2664G>A (p.Glu888=)
c.*2363G>A (n.*2363G>A)
n.758G>A
c.*1136G>A (n.*1136G>A)
c.1465G>A
c.2652+12G>A (n.2652+12G>A)
c.2652G>A (p.Glu884=)
c.2634G>A (p.Glu878=)
c.2373G>A (p.Glu791=)
c.717G>A
c.2784G>A (p.Glu928=)
c.2766G>A (p.Glu922=)
c.2445G>A (p.Glu815=)
c.2313G>A (p.Glu771=)
c.2310G>A (p.Glu770=)
c.2394G>A (p.Glu798=)
c.2325G>A (p.Glu775=)
c.1308G>A (p.Glu436=)
 dbSNP
12g.55693202T>ACA6615519ITGA7c.*2275A>T (n.*2275A>T)
c.1322A>T
n.2066A>T
c.2177A>T (p.Glu726Val)
c.2663A>T (p.Glu888Val)
c.*2362A>T (n.*2362A>T)
n.757A>T
c.*1135A>T (n.*1135A>T)
c.1464A>T
c.2652+11A>T (n.2652+11A>T)
c.2651A>T (p.Glu884Val)
c.2633A>T (p.Glu878Val)
c.2372A>T (p.Glu791Val)
c.716A>T
c.2783A>T (p.Glu928Val)
c.2765A>T (p.Glu922Val)
c.2444A>T (p.Glu815Val)
c.2312A>T (p.Glu771Val)
c.2309A>T (p.Glu770Val)
c.2393A>T (p.Glu798Val)
c.2324A>T (p.Glu775Val)
c.1307A>T (p.Glu436Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55693202T>CCA385181588ITGA7c.*2275A>G (n.*2275A>G)
c.1322A>G
n.2066A>G
c.2177A>G (p.Glu726Gly)
c.2663A>G (p.Glu888Gly)
c.*2362A>G (n.*2362A>G)
n.757A>G
c.*1135A>G (n.*1135A>G)
c.1464A>G
c.2652+11A>G (n.2652+11A>G)
c.2651A>G (p.Glu884Gly)
c.2633A>G (p.Glu878Gly)
c.2372A>G (p.Glu791Gly)
c.716A>G
c.2783A>G (p.Glu928Gly)
c.2765A>G (p.Glu922Gly)
c.2444A>G (p.Glu815Gly)
c.2312A>G (p.Glu771Gly)
c.2309A>G (p.Glu770Gly)
c.2393A>G (p.Glu798Gly)
c.2324A>G (p.Glu775Gly)
c.1307A>G (p.Glu436Gly)
12g.55693202T>GCA385181589ITGA7c.*2275A>C (n.*2275A>C)
c.1322A>C
n.2066A>C
c.2177A>C (p.Glu726Ala)
c.2663A>C (p.Glu888Ala)
c.*2362A>C (n.*2362A>C)
n.757A>C
c.*1135A>C (n.*1135A>C)
c.1464A>C
c.2652+11A>C (n.2652+11A>C)
c.2651A>C (p.Glu884Ala)
c.2633A>C (p.Glu878Ala)
c.2372A>C (p.Glu791Ala)
c.716A>C
c.2783A>C (p.Glu928Ala)
c.2765A>C (p.Glu922Ala)
c.2444A>C (p.Glu815Ala)
c.2312A>C (p.Glu771Ala)
c.2309A>C (p.Glu770Ala)
c.2393A>C (p.Glu798Ala)
c.2324A>C (p.Glu775Ala)
c.1307A>C (p.Glu436Ala)
12g.55693202T=CA2038035830ITGA7c.*2275A= (n.*2275A=)
c.1322A=
n.2066A=
c.2177A= (p.Glu726=)
c.2663A= (p.Glu888=)
c.*2362A= (n.*2362A=)
n.757A=
c.*1135A= (n.*1135A=)
c.1464A=
c.2652+11A= (n.2652+11A=)
c.2651A= (p.Glu884=)
c.2633A= (p.Glu878=)
c.2372A= (p.Glu791=)
c.716A=
c.2783A= (p.Glu928=)
c.2765A= (p.Glu922=)
c.2444A= (p.Glu815=)
c.2312A= (p.Glu771=)
c.2309A= (p.Glu770=)
c.2393A= (p.Glu798=)
c.2324A= (p.Glu775=)
c.1307A= (p.Glu436=)
12g.55693203C>ACA385181590ITGA7c.*2274G>T (n.*2274G>T)
c.1321G>T
n.2065G>T
c.2176G>T (p.Glu726Ter)
c.2662G>T (p.Glu888Ter)
c.*2361G>T (n.*2361G>T)
n.756G>T
c.*1134G>T (n.*1134G>T)
c.1463G>T
c.2652+10G>T (n.2652+10G>T)
c.2650G>T (p.Glu884Ter)
c.2632G>T (p.Glu878Ter)
c.2371G>T (p.Glu791Ter)
c.715G>T
c.2782G>T (p.Glu928Ter)
c.2764G>T (p.Glu922Ter)
c.2443G>T (p.Glu815Ter)
c.2311G>T (p.Glu771Ter)
c.2308G>T (p.Glu770Ter)
c.2392G>T (p.Glu798Ter)
c.2323G>T (p.Glu775Ter)
c.1306G>T (p.Glu436Ter)
12g.55693203C>GCA385181591ITGA7c.*2274G>C (n.*2274G>C)
c.1321G>C
n.2065G>C
c.2176G>C (p.Glu726Gln)
c.2662G>C (p.Glu888Gln)
c.*2361G>C (n.*2361G>C)
n.756G>C
c.*1134G>C (n.*1134G>C)
c.1463G>C
c.2652+10G>C (n.2652+10G>C)
c.2650G>C (p.Glu884Gln)
c.2632G>C (p.Glu878Gln)
c.2371G>C (p.Glu791Gln)
c.715G>C
c.2782G>C (p.Glu928Gln)
c.2764G>C (p.Glu922Gln)
c.2443G>C (p.Glu815Gln)
c.2311G>C (p.Glu771Gln)
c.2308G>C (p.Glu770Gln)
c.2392G>C (p.Glu798Gln)
c.2323G>C (p.Glu775Gln)
c.1306G>C (p.Glu436Gln)
12g.55693203C>TCA385181592ITGA7c.*2274G>A (n.*2274G>A)
c.1321G>A
n.2065G>A
c.2176G>A (p.Glu726Lys)
c.2662G>A (p.Glu888Lys)
c.*2361G>A (n.*2361G>A)
n.756G>A
c.*1134G>A (n.*1134G>A)
c.1463G>A
c.2652+10G>A (n.2652+10G>A)
c.2650G>A (p.Glu884Lys)
c.2632G>A (p.Glu878Lys)
c.2371G>A (p.Glu791Lys)
c.715G>A
c.2782G>A (p.Glu928Lys)
c.2764G>A (p.Glu922Lys)
c.2443G>A (p.Glu815Lys)
c.2311G>A (p.Glu771Lys)
c.2308G>A (p.Glu770Lys)
c.2392G>A (p.Glu798Lys)
c.2323G>A (p.Glu775Lys)
c.1306G>A (p.Glu436Lys)
 gnomAD v4
12g.55693204C>ACA480145337ITGA7c.*2273G>T (n.*2273G>T)
c.1320G>T
n.2064G>T
c.2175G>T (p.Leu725=)
c.2661G>T (p.Leu887=)
c.*2360G>T (n.*2360G>T)
n.755G>T
c.*1133G>T (n.*1133G>T)
c.1462G>T
c.2652+9G>T (n.2652+9G>T)
c.2649G>T (p.Leu883=)
c.2631G>T (p.Leu877=)
c.2370G>T (p.Leu790=)
c.714G>T
c.2781G>T (p.Leu927=)
c.2763G>T (p.Leu921=)
c.2442G>T (p.Leu814=)
c.2310G>T (p.Leu770=)
c.2307G>T (p.Leu769=)
c.2391G>T (p.Leu797=)
c.2322G>T (p.Leu774=)
c.1305G>T (p.Leu435=)
12g.55693204C>GCA480145338ITGA7c.*2273G>C (n.*2273G>C)
c.1320G>C
n.2064G>C
c.2175G>C (p.Leu725=)
c.2661G>C (p.Leu887=)
c.*2360G>C (n.*2360G>C)
n.755G>C
c.*1133G>C (n.*1133G>C)
c.1462G>C
c.2652+9G>C (n.2652+9G>C)
c.2649G>C (p.Leu883=)
c.2631G>C (p.Leu877=)
c.2370G>C (p.Leu790=)
c.714G>C
c.2781G>C (p.Leu927=)
c.2763G>C (p.Leu921=)
c.2442G>C (p.Leu814=)
c.2310G>C (p.Leu770=)
c.2307G>C (p.Leu769=)
c.2391G>C (p.Leu797=)
c.2322G>C (p.Leu774=)
c.1305G>C (p.Leu435=)
12g.55693204C>TCA480145340ITGA7c.*2273G>A (n.*2273G>A)
c.1320G>A
n.2064G>A
c.2175G>A (p.Leu725=)
c.2661G>A (p.Leu887=)
c.*2360G>A (n.*2360G>A)
n.755G>A
c.*1133G>A (n.*1133G>A)
c.1462G>A
c.2652+9G>A (n.2652+9G>A)
c.2649G>A (p.Leu883=)
c.2631G>A (p.Leu877=)
c.2370G>A (p.Leu790=)
c.714G>A
c.2781G>A (p.Leu927=)
c.2763G>A (p.Leu921=)
c.2442G>A (p.Leu814=)
c.2310G>A (p.Leu770=)
c.2307G>A (p.Leu769=)
c.2391G>A (p.Leu797=)
c.2322G>A (p.Leu774=)
c.1305G>A (p.Leu435=)
12g.55693205A>CCA385181593ITGA7c.*2272T>G (n.*2272T>G)
c.1319T>G
n.2063T>G
c.2174T>G (p.Leu725Arg)
c.2660T>G (p.Leu887Arg)
c.*2359T>G (n.*2359T>G)
n.754T>G
c.*1132T>G (n.*1132T>G)
c.1461T>G
c.2652+8T>G (n.2652+8T>G)
c.2648T>G (p.Leu883Arg)
c.2630T>G (p.Leu877Arg)
c.2369T>G (p.Leu790Arg)
c.713T>G
c.2780T>G (p.Leu927Arg)
c.2762T>G (p.Leu921Arg)
c.2441T>G (p.Leu814Arg)
c.2309T>G (p.Leu770Arg)
c.2306T>G (p.Leu769Arg)
c.2390T>G (p.Leu797Arg)
c.2321T>G (p.Leu774Arg)
c.1304T>G (p.Leu435Arg)
12g.55693205A>GCA385181594ITGA7c.*2272T>C (n.*2272T>C)
c.1319T>C
n.2063T>C
c.2174T>C (p.Leu725Pro)
c.2660T>C (p.Leu887Pro)
c.*2359T>C (n.*2359T>C)
n.754T>C
c.*1132T>C (n.*1132T>C)
c.1461T>C
c.2652+8T>C (n.2652+8T>C)
c.2648T>C (p.Leu883Pro)
c.2630T>C (p.Leu877Pro)
c.2369T>C (p.Leu790Pro)
c.713T>C
c.2780T>C (p.Leu927Pro)
c.2762T>C (p.Leu921Pro)
c.2441T>C (p.Leu814Pro)
c.2309T>C (p.Leu770Pro)
c.2306T>C (p.Leu769Pro)
c.2390T>C (p.Leu797Pro)
c.2321T>C (p.Leu774Pro)
c.1304T>C (p.Leu435Pro)
12g.55693205A>TCA385181595ITGA7c.*2272T>A (n.*2272T>A)
c.1319T>A
n.2063T>A
c.2174T>A (p.Leu725Gln)
c.2660T>A (p.Leu887Gln)
c.*2359T>A (n.*2359T>A)
n.754T>A
c.*1132T>A (n.*1132T>A)
c.1461T>A
c.2652+8T>A (n.2652+8T>A)
c.2648T>A (p.Leu883Gln)
c.2630T>A (p.Leu877Gln)
c.2369T>A (p.Leu790Gln)
c.713T>A
c.2780T>A (p.Leu927Gln)
c.2762T>A (p.Leu921Gln)
c.2441T>A (p.Leu814Gln)
c.2309T>A (p.Leu770Gln)
c.2306T>A (p.Leu769Gln)
c.2390T>A (p.Leu797Gln)
c.2321T>A (p.Leu774Gln)
c.1304T>A (p.Leu435Gln)
12g.55693206G>ACA480145346ITGA7c.*2271C>T (n.*2271C>T)
c.1318C>T
n.2062C>T
c.2173C>T (p.Leu725=)
c.2659C>T (p.Leu887=)
c.*2358C>T (n.*2358C>T)
n.753C>T
c.*1131C>T (n.*1131C>T)
c.1460C>T
c.2652+7C>T (n.2652+7C>T)
c.2647C>T (p.Leu883=)
c.2629C>T (p.Leu877=)
c.2368C>T (p.Leu790=)
c.712C>T
c.2779C>T (p.Leu927=)
c.2761C>T (p.Leu921=)
c.2440C>T (p.Leu814=)
c.2308C>T (p.Leu770=)
c.2305C>T (p.Leu769=)
c.2389C>T (p.Leu797=)
c.2320C>T (p.Leu774=)
c.1303C>T (p.Leu435=)
12g.55693206G>CCA385181596ITGA7c.*2271C>G (n.*2271C>G)
c.1318C>G
n.2062C>G
c.2173C>G (p.Leu725Val)
c.2659C>G (p.Leu887Val)
c.*2358C>G (n.*2358C>G)
n.753C>G
c.*1131C>G (n.*1131C>G)
c.1460C>G
c.2652+7C>G (n.2652+7C>G)
c.2647C>G (p.Leu883Val)
c.2629C>G (p.Leu877Val)
c.2368C>G (p.Leu790Val)
c.712C>G
c.2779C>G (p.Leu927Val)
c.2761C>G (p.Leu921Val)
c.2440C>G (p.Leu814Val)
c.2308C>G (p.Leu770Val)
c.2305C>G (p.Leu769Val)
c.2389C>G (p.Leu797Val)
c.2320C>G (p.Leu774Val)
c.1303C>G (p.Leu435Val)
12g.55693206G>TCA385181597ITGA7c.*2271C>A (n.*2271C>A)
c.1318C>A
n.2062C>A
c.2173C>A (p.Leu725Met)
c.2659C>A (p.Leu887Met)
c.*2358C>A (n.*2358C>A)
n.753C>A
c.*1131C>A (n.*1131C>A)
c.1460C>A
c.2652+7C>A (n.2652+7C>A)
c.2647C>A (p.Leu883Met)
c.2629C>A (p.Leu877Met)
c.2368C>A (p.Leu790Met)
c.712C>A
c.2779C>A (p.Leu927Met)
c.2761C>A (p.Leu921Met)
c.2440C>A (p.Leu814Met)
c.2308C>A (p.Leu770Met)
c.2305C>A (p.Leu769Met)
c.2389C>A (p.Leu797Met)
c.2320C>A (p.Leu774Met)
c.1303C>A (p.Leu435Met)
12g.55693207C>ACA385181598ITGA7c.*2270G>T (n.*2270G>T)
c.1317G>T
n.2061G>T
c.2172G>T (p.Glu724Asp)
c.2658G>T (p.Glu886Asp)
c.*2357G>T (n.*2357G>T)
n.752G>T
c.*1130G>T (n.*1130G>T)
c.1459G>T
c.2652+6G>T (n.2652+6G>T)
c.2646G>T (p.Glu882Asp)
c.2628G>T (p.Glu876Asp)
c.2367G>T (p.Glu789Asp)
c.711G>T
c.2778G>T (p.Glu926Asp)
c.2760G>T (p.Glu920Asp)
c.2439G>T (p.Glu813Asp)
c.2307G>T (p.Glu769Asp)
c.2304G>T (p.Glu768Asp)
c.2388G>T (p.Glu796Asp)
c.2319G>T (p.Glu773Asp)
c.1302G>T (p.Glu434Asp)
 gnomAD v4
12g.55693207C>GCA385181599ITGA7c.*2270G>C (n.*2270G>C)
c.1317G>C
n.2061G>C
c.2172G>C (p.Glu724Asp)
c.2658G>C (p.Glu886Asp)
c.*2357G>C (n.*2357G>C)
n.752G>C
c.*1130G>C (n.*1130G>C)
c.1459G>C
c.2652+6G>C (n.2652+6G>C)
c.2646G>C (p.Glu882Asp)
c.2628G>C (p.Glu876Asp)
c.2367G>C (p.Glu789Asp)
c.711G>C
c.2778G>C (p.Glu926Asp)
c.2760G>C (p.Glu920Asp)
c.2439G>C (p.Glu813Asp)
c.2307G>C (p.Glu769Asp)
c.2304G>C (p.Glu768Asp)
c.2388G>C (p.Glu796Asp)
c.2319G>C (p.Glu773Asp)
c.1302G>C (p.Glu434Asp)
12g.55693207C>TCA480145350ITGA7c.*2270G>A (n.*2270G>A)
c.1317G>A
n.2061G>A
c.2172G>A (p.Glu724=)
c.2658G>A (p.Glu886=)
c.*2357G>A (n.*2357G>A)
n.752G>A
c.*1130G>A (n.*1130G>A)
c.1459G>A
c.2652+6G>A (n.2652+6G>A)
c.2646G>A (p.Glu882=)
c.2628G>A (p.Glu876=)
c.2367G>A (p.Glu789=)
c.711G>A
c.2778G>A (p.Glu926=)
c.2760G>A (p.Glu920=)
c.2439G>A (p.Glu813=)
c.2307G>A (p.Glu769=)
c.2304G>A (p.Glu768=)
c.2388G>A (p.Glu796=)
c.2319G>A (p.Glu773=)
c.1302G>A (p.Glu434=)
12g.55693208T>ACA385181600ITGA7c.*2269A>T (n.*2269A>T)
c.1316A>T
n.2060A>T
c.2171A>T (p.Glu724Val)
c.2657A>T (p.Glu886Val)
c.*2356A>T (n.*2356A>T)
n.751A>T
c.*1129A>T (n.*1129A>T)
c.1458A>T
c.2652+5A>T (n.2652+5A>T)
c.2645A>T (p.Glu882Val)
c.2627A>T (p.Glu876Val)
c.2366A>T (p.Glu789Val)
c.710A>T
c.2777A>T (p.Glu926Val)
c.2759A>T (p.Glu920Val)
c.2438A>T (p.Glu813Val)
c.2306A>T (p.Glu769Val)
c.2303A>T (p.Glu768Val)
c.2387A>T (p.Glu796Val)
c.2318A>T (p.Glu773Val)
c.1301A>T (p.Glu434Val)
12g.55693208T>CCA385181602ITGA7c.*2269A>G (n.*2269A>G)
c.1316A>G
n.2060A>G
c.2171A>G (p.Glu724Gly)
c.2657A>G (p.Glu886Gly)
c.*2356A>G (n.*2356A>G)
n.751A>G
c.*1129A>G (n.*1129A>G)
c.1458A>G
c.2652+5A>G (n.2652+5A>G)
c.2645A>G (p.Glu882Gly)
c.2627A>G (p.Glu876Gly)
c.2366A>G (p.Glu789Gly)
c.710A>G
c.2777A>G (p.Glu926Gly)
c.2759A>G (p.Glu920Gly)
c.2438A>G (p.Glu813Gly)
c.2306A>G (p.Glu769Gly)
c.2303A>G (p.Glu768Gly)
c.2387A>G (p.Glu796Gly)
c.2318A>G (p.Glu773Gly)
c.1301A>G (p.Glu434Gly)
12g.55693208T>GCA385181601ITGA7c.*2269A>C (n.*2269A>C)
c.1316A>C
n.2060A>C
c.2171A>C (p.Glu724Ala)
c.2657A>C (p.Glu886Ala)
c.*2356A>C (n.*2356A>C)
n.751A>C
c.*1129A>C (n.*1129A>C)
c.1458A>C
c.2652+5A>C (n.2652+5A>C)
c.2645A>C (p.Glu882Ala)
c.2627A>C (p.Glu876Ala)
c.2366A>C (p.Glu789Ala)
c.710A>C
c.2777A>C (p.Glu926Ala)
c.2759A>C (p.Glu920Ala)
c.2438A>C (p.Glu813Ala)
c.2306A>C (p.Glu769Ala)
c.2303A>C (p.Glu768Ala)
c.2387A>C (p.Glu796Ala)
c.2318A>C (p.Glu773Ala)
c.1301A>C (p.Glu434Ala)
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)

Number of alleles fetched