Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.55693173G>A	CA385181532	ITGA7	c.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
12	g.55693173G>C	CA6615511	ITGA7	c.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
12	g.55693173G=	CA2038035734	ITGA7	c.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=)
12	g.55693173G>T	CA385181531	ITGA7	c.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
12	g.55693174C>A	CA480145239	ITGA7	c.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=)
12	g.55693174C>G	CA480145240	ITGA7	c.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=)
12	g.55693174C>T	CA480145242	ITGA7	c.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=)
12	g.55693175C>A	CA385181533	ITGA7	c.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)
12	g.55693175C=	CA2038035738	ITGA7	c.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=)
12	g.55693175C>G	CA385181534	ITGA7	c.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)
12	g.55693175C>T	CA385181535	ITGA7	c.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
12	g.55693176C>A	CA385181536	ITGA7	c.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)
12	g.55693176C>G	CA385181537	ITGA7	c.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
12	g.55693176C>T	CA385181538	ITGA7	c.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
12	g.55693176_55693177delinsCT	CA2038035743	ITGA7	c.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=)
12	g.55693177T>A	CA385181539	ITGA7	c.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)
12	g.55693177T>C	CA480145251	ITGA7	c.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=)
12	g.55693177T>G	CA385181540	ITGA7	c.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)
12	g.55693179del	CA6615512	ITGA7	c.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
12	g.55693178T>A	CA385181541	ITGA7	c.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)
12	g.55693178T>C	CA385181542	ITGA7	c.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)
12	g.55693178T>G	CA385181543	ITGA7	c.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)
12	g.55693179T>A	CA385181544	ITGA7	c.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)
12	g.55693179T>C	CA385181546	ITGA7	c.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)
12	g.55693179T>G	CA385181545	ITGA7	c.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)
12	g.55693180C>A	CA385181547	ITGA7	c.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
12	g.55693180C=	CA2038035753	ITGA7	c.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=)
12	g.55693180C>G	CA6615513	ITGA7	c.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
12	g.55693180C>T	CA480145261	ITGA7	c.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
12	g.55693181T>A	CA385181548	ITGA7	c.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)
12	g.55693181T>C	CA385181549	ITGA7	c.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
12	g.55693181T>G	CA385181550	ITGA7	c.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)
12	g.55693182G>A	CA237564075	ITGA7	c.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
12	g.55693182G>C	CA385181551	ITGA7	c.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)
12	g.55693182G=	CA2038035755	ITGA7	c.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=)
12	g.55693182G>T	CA385181552	ITGA7	c.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
12	g.55693183C>A	CA480145269	ITGA7	c.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=)
12	g.55693183C>G	CA480145271	ITGA7	c.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=)
12	g.55693183C>T	CA480145272	ITGA7	c.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=)
12	g.55693185del	CA2580086502	ITGA7	c.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
12	g.55693184C>A	CA385181553	ITGA7	c.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)
12	g.55693184C=	CA2038035760	ITGA7	c.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=)
12	g.55693184C>G	CA385181554	ITGA7	c.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)
12	g.55693184C>T	CA6615514	ITGA7	c.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
12	g.55693185C>A	CA385181555	ITGA7	c.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)
12	g.55693185C>G	CA385181556	ITGA7	c.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)
12	g.55693185C>T	CA385181557	ITGA7	c.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)
12	g.55693186A=	CA2038035761	ITGA7	c.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=)
12	g.55693186A>C	CA480145280	ITGA7	c.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=)
12	g.55693186A>G	CA480145282	ITGA7	c.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
12	g.55693186A>T	CA6615515	ITGA7	c.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
12	g.55693187G>A	CA385181558	ITGA7	c.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)
12	g.55693187G>C	CA385181560	ITGA7	c.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)
12	g.55693187G>T	CA385181559	ITGA7	c.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
12	g.55693188G>A	CA385181561	ITGA7	c.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
12	g.55693188G>C	CA385181562	ITGA7	c.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
12	g.55693188G=	CA2038035764	ITGA7	c.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=)
12	g.55693188G>T	CA385181563	ITGA7	c.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)
12	g.55693189C>A	CA480145289	ITGA7	c.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=)
12	g.55693189C>G	CA480145291	ITGA7	c.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=)
12	g.55693189C>T	CA480145293	ITGA7	c.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=)
12	g.55693192dup	CA2038035773	ITGA7	c.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
12	g.55693190C>A	CA385181564	ITGA7	c.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)
12	g.55693190C=	CA2038035782	ITGA7	c.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=)
12	g.55693190C>G	CA385181565	ITGA7	c.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
12	g.55693190C>T	CA10575979	ITGA7	c.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
12	g.55693191C>A	CA385181566	ITGA7	c.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)
12	g.55693191C=	CA2038035792	ITGA7	c.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=)
12	g.55693191C>G	CA6615516	ITGA7	c.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
12	g.55693191C>T	CA385181567	ITGA7	c.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)
12	g.55693192C>A	CA385181568	ITGA7	c.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)
12	g.55693192C>G	CA385181569	ITGA7	c.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)
12	g.55693192C>T	CA480145302	ITGA7	c.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=)
12	g.55693193T>A	CA385181570	ITGA7	c.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)
12	g.55693193T>C	CA385181572	ITGA7	c.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)
12	g.55693193T>G	CA385181571	ITGA7	c.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)
12	g.55693194G>A	CA385181573	ITGA7	c.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
12	g.55693194G>C	CA385181574	ITGA7	c.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)
12	g.55693194G=	CA2038035798	ITGA7	c.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=)
12	g.55693194G>T	CA237564089	ITGA7	c.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
12	g.55693195C>A	CA480145309	ITGA7	c.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=)
12	g.55693195C>G	CA480145311	ITGA7	c.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=)
12	g.55693195C>T	CA480145313	ITGA7	c.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=)
12	g.55693196C>A	CA385181575	ITGA7	c.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)
12	g.55693196C>G	CA385181576	ITGA7	c.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)
12	g.55693196C>T	CA385181577	ITGA7	c.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
12	g.55693197C>A	CA385181578	ITGA7	c.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
12	g.55693197C=	CA2038035807	ITGA7	c.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=)
12	g.55693197C>G	CA385181579	ITGA7	c.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)
12	g.55693197C>T	CA6615517	ITGA7	c.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
12	g.55693198G>A	CA6615518	ITGA7	c.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
12	g.55693198G>C	CA480145318	ITGA7	c.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
12	g.55693198G=	CA2038035814	ITGA7	c.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=)
12	g.55693198G>T	CA480145321	ITGA7	c.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
12	g.55693199C>A	CA385181580	ITGA7	c.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)
12	g.55693199C=	CA2038035824	ITGA7	c.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=)
12	g.55693199C>G	CA385181581	ITGA7	c.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)
12	g.55693199C>T	CA385181582	ITGA7	c.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
12	g.55693200C>A	CA385181583	ITGA7	c.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)
12	g.55693200C>G	CA385181585	ITGA7	c.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)
12	g.55693200C>T	CA385181584	ITGA7	c.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
12	g.55693201C>A	CA385181586	ITGA7	c.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)
12	g.55693201C=	CA2038035826	ITGA7	c.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=)
12	g.55693201C>G	CA385181587	ITGA7	c.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)
12	g.55693201C>T	CA480145330	ITGA7	c.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
12	g.55693202T>A	CA6615519	ITGA7	c.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
12	g.55693202T>C	CA385181588	ITGA7	c.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)
12	g.55693202T>G	CA385181589	ITGA7	c.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)
12	g.55693202T=	CA2038035830	ITGA7	c.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=)
12	g.55693203C>A	CA385181590	ITGA7	c.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)
12	g.55693203C>G	CA385181591	ITGA7	c.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)
12	g.55693203C>T	CA385181592	ITGA7	c.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
12	g.55693204C>A	CA480145337	ITGA7	c.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=)
12	g.55693204C>G	CA480145338	ITGA7	c.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=)
12	g.55693204C>T	CA480145340	ITGA7	c.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=)
12	g.55693205A>C	CA385181593	ITGA7	c.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)
12	g.55693205A>G	CA385181594	ITGA7	c.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)
12	g.55693205A>T	CA385181595	ITGA7	c.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)
12	g.55693206G>A	CA480145346	ITGA7	c.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=)
12	g.55693206G>C	CA385181596	ITGA7	c.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)
12	g.55693206G>T	CA385181597	ITGA7	c.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)
12	g.55693207C>A	CA385181598	ITGA7	c.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
12	g.55693207C>G	CA385181599	ITGA7	c.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)
12	g.55693207C>T	CA480145350	ITGA7	c.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=)
12	g.55693208T>A	CA385181600	ITGA7	c.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)
12	g.55693208T>C	CA385181602	ITGA7	c.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)
12	g.55693208T>G	CA385181601	ITGA7	c.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)
12	g.55693209C>A	CA385181603	ITGA7	c.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)
12	g.55693209C=	CA2038035843	ITGA7	c.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=)
12	g.55693209C>G	CA385181604	ITGA7	c.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)
12	g.55693209C>T	CA147560	ITGA7	c.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
12	g.55693210A=	CA2038035855	ITGA7	c.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=)
12	g.55693210A>C	CA237564126	ITGA7	c.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
12	g.55693210A>G	CA480145358	ITGA7	c.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=)
12	g.55693210A>T	CA480145359	ITGA7	c.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
12	g.55693211A=	CA2038035863	ITGA7	c.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=)
12	g.55693211A>C	CA385181605	ITGA7	c.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)
12	g.55693211A>G	CA385181606	ITGA7	c.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
12	g.55693211A>T	CA241926	ITGA7	c.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
12	g.55693212C>A	CA385181607	ITGA7	c.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)
12	g.55693212C>G	CA385181608	ITGA7	c.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)
12	g.55693212C>T	CA385181609	ITGA7	c.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)
12	g.55693213C>A	CA385181610	ITGA7	c.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)
12	g.55693213C=	CA2038035868	ITGA7	c.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=)
12	g.55693213C>G	CA385181611	ITGA7	c.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
12	g.55693213C>T	CA480145368	ITGA7	c.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
12	g.55693214T>A	CA385181612	ITGA7	c.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)
12	g.55693214T>C	CA385181613	ITGA7	c.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
12	g.55693214T>G	CA385181614	ITGA7	c.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)
12	g.55693215G>A	CA385181615	ITGA7	c.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)
12	g.55693215G>C	CA385181617	ITGA7	c.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
12	g.55693215G>T	CA385181616	ITGA7	c.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)
12	g.55693216C>A	CA385181618	ITGA7	c.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)
12	g.55693216C=	CA2038035872	ITGA7	c.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=)
12	g.55693216C>G	CA385181619	ITGA7	c.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)
12	g.55693216C>T	CA6615520	ITGA7	c.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
12	g.55693217A>C	CA385181620	ITGA7	c.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)
12	g.55693217A>G	CA385181621	ITGA7	c.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)
12	g.55693217A>T	CA385181622	ITGA7	c.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)
12	g.55693218T>A	CA385181623	ITGA7	c.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)
12	g.55693218T>C	CA6615521	ITGA7	c.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
12	g.55693218T>G	CA385181624	ITGA7	c.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)
12	g.55693218T=	CA2038035880	ITGA7	c.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=)
12	g.55693219T>A	CA480145387	ITGA7	c.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=)
12	g.55693219T>C	CA480145385	ITGA7	c.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=)
12	g.55693219T>G	CA480145384	ITGA7	c.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=)
12	g.55693220G>A	CA385181626	ITGA7	c.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)
12	g.55693220G>C	CA6615522	ITGA7	c.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
12	g.55693220G=	CA2038035884	ITGA7	c.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=)
12	g.55693220G>T	CA385181625	ITGA7	c.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)
12	g.55693221G>A	CA385181627	ITGA7	c.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)
12	g.55693221G>C	CA385181628	ITGA7	c.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)
12	g.55693221G>T	CA385181629	ITGA7	c.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)
12	g.55693222G>A	CA480145395	ITGA7	c.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
12	g.55693222G>C	CA385181630	ITGA7	c.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)
12	g.55693222G>T	CA385181631	ITGA7	c.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)
12	g.55693223T>A	CA385181632	ITGA7	c.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)
12	g.55693223T>C	CA385181633	ITGA7	c.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)
12	g.55693223T>G	CA385181634	ITGA7	c.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)
12	g.55693224A>C	CA385181635	ITGA7	c.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)
12	g.55693224A>G	CA385181636	ITGA7	c.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)
12	g.55693224A>T	CA385181637	ITGA7	c.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)
12	g.55693225C>A	CA480145403	ITGA7	c.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=)
12	g.55693225C=	CA2038035888	ITGA7	c.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=)
12	g.55693225C>G	CA480145406	ITGA7	c.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=)
12	g.55693225C>T	CA480145404	ITGA7	c.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
12	g.55693226A>C	CA385181640	ITGA7	c.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)
12	g.55693226A>G	CA385181639	ITGA7	c.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
12	g.55693226A>T	CA385181638	ITGA7	c.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)
12	g.55693227G>A	CA480145411	ITGA7	c.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=)
12	g.55693227G>C	CA385181641	ITGA7	c.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)
12	g.55693227G>T	CA385181642	ITGA7	c.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)
12	g.55693228C>A	CA385181643	ITGA7	c.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)
12	g.55693228C=	CA2038035902	ITGA7	c.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=)
12	g.55693228C>G	CA385181644	ITGA7	c.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
12	g.55693228C>T	CA6615523	ITGA7	c.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
12	g.55693229A>C	CA385181645	ITGA7	c.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)
12	g.55693229A>G	CA385181646	ITGA7	c.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)
12	g.55693229A>T	CA385181647	ITGA7	c.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)
12	g.55693230A>C	CA385181648	ITGA7	c.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)
12	g.55693230A>G	CA480145421	ITGA7	c.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
12	g.55693230A>T	CA385181649	ITGA7	c.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)
12	g.55693231C>A	CA385181650	ITGA7	c.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)
12	g.55693231C>G	CA385181651	ITGA7	c.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)
12	g.55693231C>T	CA385181652	ITGA7	c.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)
12	g.55693232C>A	CA385181654	ITGA7	c.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)
12	g.55693232C>G	CA385181655	ITGA7	c.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
12	g.55693232C>T	CA385181653	ITGA7	c.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)
12	g.55693233A>C	CA385181658	ITGA7	c.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)
12	g.55693233A>G	CA385181656	ITGA7	c.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)
12	g.55693233A>T	CA385181657	ITGA7	c.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)
12	g.55693234C>A	CA385181659	ITGA7	c.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)
12	g.55693234C>G	CA385181660	ITGA7	c.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)
12	g.55693234C>T	CA480145433	ITGA7	c.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=)
12	g.55693235T>A	CA385181661	ITGA7	c.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)
12	g.55693235T>C	CA385181662	ITGA7	c.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)
12	g.55693235T>G	CA385181663	ITGA7	c.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)
12	g.55693236T>A	CA385181664	ITGA7	c.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)
12	g.55693236T>C	CA385181666	ITGA7	c.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)
12	g.55693236T>G	CA385181665	ITGA7	c.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)
12	g.55693237C>A	CA237564144	ITGA7	c.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
12	g.55693237C=	CA2038035909	ITGA7	c.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=)
12	g.55693237C>G	CA480145442	ITGA7	c.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=)
12	g.55693237C>T	CA480145443	ITGA7	c.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=)
12	g.55693238C>A	CA385181667	ITGA7	c.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)
12	g.55693238C>G	CA385181668	ITGA7	c.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)
12	g.55693238C>T	CA385181669	ITGA7	c.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)
12	g.55693239C>A	CA385181670	ITGA7	c.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)
12	g.55693239C=	CA2038035914	ITGA7	c.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=)
12	g.55693239C>G	CA385181672	ITGA7	c.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)
12	g.55693239C>T	CA385181671	ITGA7	c.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
12	g.55693240A>C	CA385181673	ITGA7	c.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)
12	g.55693240A>G	CA480145451	ITGA7	c.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=)
12	g.55693240A>T	CA385181674	ITGA7	c.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)
12	g.55693241T>A	CA385181675	ITGA7	c.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)
12	g.55693241T>C	CA6615524	ITGA7	c.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
12	g.55693241T>G	CA385181676	ITGA7	c.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)
12	g.55693241T=	CA2038035920	ITGA7	c.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=)
12	g.55693242T>A	CA385181677	ITGA7	c.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)
12	g.55693242T>C	CA385181678	ITGA7	c.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)
12	g.55693242T>G	CA385181679	ITGA7	c.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)
12	g.55693243G>A	CA480145459	ITGA7	c.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=)
12	g.55693243G>C	CA480145460	ITGA7	c.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
12	g.55693243G=	CA2038035927	ITGA7	c.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=)
12	g.55693243G>T	CA480145462	ITGA7	c.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=)
12	g.55693244G>A	CA385181680	ITGA7	c.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
12	g.55693244G>C	CA385181681	ITGA7	c.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)
12	g.55693244G=	CA2038035932	ITGA7	c.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=)
12	g.55693244G>T	CA385181682	ITGA7	c.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)
12	g.55693245C>A	CA385181685	ITGA7	c.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)
12	g.55693245C>G	CA385181684	ITGA7	c.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)
12	g.55693245C>T	CA385181683	ITGA7	c.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)
12	g.55693246A>C	CA385181686	ITGA7	c.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
12	g.55693246A>G	CA480145468	ITGA7	c.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=)
12	g.55693246A>T	CA480145470	ITGA7	c.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=)
12	g.55693247A=	CA2038035935	ITGA7	c.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=)
12	g.55693247A>C	CA385181687	ITGA7	c.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)
12	g.55693247A>G	CA6615525	ITGA7	c.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
12	g.55693247A>T	CA385181688	ITGA7	c.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)
12	g.55693248T>A	CA385181689	ITGA7	c.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)
12	g.55693248T>C	CA385181690	ITGA7	c.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)
12	g.55693248T>G	CA385181691	ITGA7	c.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)
12	g.55693249C>A	CA385181692	ITGA7	c.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)
12	g.55693249C=	CA2038035939	ITGA7	c.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=)
12	g.55693249C>G	CA385181693	ITGA7	c.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)
12	g.55693249C>T	CA480145479	ITGA7	c.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
12	g.55693250T>A	CA385181694	ITGA7	c.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)
12	g.55693250T>C	CA385181695	ITGA7	c.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)
12	g.55693250T>G	CA385181696	ITGA7	c.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)
12	g.55693251C>A	CA385181698	ITGA7	c.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)
12	g.55693251C>G	CA385181699	ITGA7	c.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)
12	g.55693251C>T	CA385181697	ITGA7	c.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
12	g.55693252A=	CA2038035943	ITGA7	c.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=)
12	g.55693252A>C	CA385181700	ITGA7	c.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
12	g.55693252A>G	CA480145487	ITGA7	c.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
12	g.55693252A>T	CA385181701	ITGA7	c.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)
12	g.55693253T>A	CA385181702	ITGA7	c.2224A>T (n.2224A>T) c.1271A>T n.2015A>T c.2126A>T (p.His709Leu) c.2612A>T (p.His871Leu) c.2311A>T (n.2311A>T) n.706A>T c.1084A>T (n.1084A>T) c.1413A>T c.2600A>T (p.His867Leu) c.2582A>T (p.His861Leu) c.2321A>T (p.His774Leu) c.665A>T c.2732A>T (p.His911Leu) c.2714A>T (p.His905Leu) c.2393A>T (p.His798Leu) c.2261A>T (p.His754Leu) c.2258A>T (p.His753Leu) c.2342A>T (p.His781Leu) c.2273A>T (p.His758Leu) c.1256A>T (p.His419Leu)
12	g.55693253T>C	CA385181703	ITGA7	c.2224A>G (n.2224A>G) c.1271A>G n.2015A>G c.2126A>G (p.His709Arg) c.2612A>G (p.His871Arg) c.2311A>G (n.2311A>G) n.706A>G c.1084A>G (n.1084A>G) c.1413A>G c.2600A>G (p.His867Arg) c.2582A>G (p.His861Arg) c.2321A>G (p.His774Arg) c.665A>G c.2732A>G (p.His911Arg) c.2714A>G (p.His905Arg) c.2393A>G (p.His798Arg) c.2261A>G (p.His754Arg) c.2258A>G (p.His753Arg) c.2342A>G (p.His781Arg) c.2273A>G (p.His758Arg) c.1256A>G (p.His419Arg)
12	g.55693253T>G	CA385181704	ITGA7	c.2224A>C (n.2224A>C) c.1271A>C n.2015A>C c.2126A>C (p.His709Pro) c.2612A>C (p.His871Pro) c.2311A>C (n.2311A>C) n.706A>C c.1084A>C (n.1084A>C) c.1413A>C c.2600A>C (p.His867Pro) c.2582A>C (p.His861Pro) c.2321A>C (p.His774Pro) c.665A>C c.2732A>C (p.His911Pro) c.2714A>C (p.His905Pro) c.2393A>C (p.His798Pro) c.2261A>C (p.His754Pro) c.2258A>C (p.His753Pro) c.2342A>C (p.His781Pro) c.2273A>C (p.His758Pro) c.1256A>C (p.His419Pro)
12	g.55693254G>A	CA385181707	ITGA7	c.2223C>T (n.2223C>T) c.1270C>T n.2014C>T c.2125C>T (p.His709Tyr) c.2611C>T (p.His871Tyr) c.2310C>T (n.2310C>T) n.705C>T c.1083C>T (n.1083C>T) c.1412C>T c.2599C>T (p.His867Tyr) c.2581C>T (p.His861Tyr) c.2320C>T (p.His774Tyr) c.664C>T c.2731C>T (p.His911Tyr) c.2713C>T (p.His905Tyr) c.2392C>T (p.His798Tyr) c.2260C>T (p.His754Tyr) c.2257C>T (p.His753Tyr) c.2341C>T (p.His781Tyr) c.2272C>T (p.His758Tyr) c.1255C>T (p.His419Tyr)	dbSNP gnomAD v3 gnomAD v4
12	g.55693254G>C	CA385181705	ITGA7	c.2223C>G (n.2223C>G) c.1270C>G n.2014C>G c.2125C>G (p.His709Asp) c.2611C>G (p.His871Asp) c.2310C>G (n.2310C>G) n.705C>G c.1083C>G (n.1083C>G) c.1412C>G c.2599C>G (p.His867Asp) c.2581C>G (p.His861Asp) c.2320C>G (p.His774Asp) c.664C>G c.2731C>G (p.His911Asp) c.2713C>G (p.His905Asp) c.2392C>G (p.His798Asp) c.2260C>G (p.His754Asp) c.2257C>G (p.His753Asp) c.2341C>G (p.His781Asp) c.2272C>G (p.His758Asp) c.1255C>G (p.His419Asp)	gnomAD v4
12	g.55693254G=	CA2038035950	ITGA7	c.2223C= (n.2223C=) c.1270C= n.2014C= c.2125C= (p.His709=) c.2611C= (p.His871=) c.2310C= (n.2310C=) n.705C= c.1083C= (n.1083C=) c.1412C= c.2599C= (p.His867=) c.2581C= (p.His861=) c.2320C= (p.His774=) c.664C= c.2731C= (p.His911=) c.2713C= (p.His905=) c.2392C= (p.His798=) c.2260C= (p.His754=) c.2257C= (p.His753=) c.2341C= (p.His781=) c.2272C= (p.His758=) c.1255C= (p.His419=)
12	g.55693254G>T	CA385181706	ITGA7	c.2223C>A (n.2223C>A) c.1270C>A n.2014C>A c.2125C>A (p.His709Asn) c.2611C>A (p.His871Asn) c.2310C>A (n.2310C>A) n.705C>A c.1083C>A (n.1083C>A) c.1412C>A c.2599C>A (p.His867Asn) c.2581C>A (p.His861Asn) c.2320C>A (p.His774Asn) c.664C>A c.2731C>A (p.His911Asn) c.2713C>A (p.His905Asn) c.2392C>A (p.His798Asn) c.2260C>A (p.His754Asn) c.2257C>A (p.His753Asn) c.2341C>A (p.His781Asn) c.2272C>A (p.His758Asn) c.1255C>A (p.His419Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.55693255A>C	CA480145495	ITGA7	c.2222T>G (n.2222T>G) c.1269T>G n.2013T>G c.2124T>G (p.Pro708=) c.2610T>G (p.Pro870=) c.2309T>G (n.2309T>G) n.704T>G c.1082T>G (n.1082T>G) c.1411T>G c.2598T>G (p.Pro866=) c.2580T>G (p.Pro860=) c.2319T>G (p.Pro773=) c.663T>G c.2730T>G (p.Pro910=) c.2712T>G (p.Pro904=) c.2391T>G (p.Pro797=) c.2259T>G (p.Pro753=) c.2256T>G (p.Pro752=) c.2340T>G (p.Pro780=) c.2271T>G (p.Pro757=) c.1254T>G (p.Pro418=)
12	g.55693255A>G	CA480145497	ITGA7	c.2222T>C (n.2222T>C) c.1269T>C n.2013T>C c.2124T>C (p.Pro708=) c.2610T>C (p.Pro870=) c.2309T>C (n.2309T>C) n.704T>C c.1082T>C (n.1082T>C) c.1411T>C c.2598T>C (p.Pro866=) c.2580T>C (p.Pro860=) c.2319T>C (p.Pro773=) c.663T>C c.2730T>C (p.Pro910=) c.2712T>C (p.Pro904=) c.2391T>C (p.Pro797=) c.2259T>C (p.Pro753=) c.2256T>C (p.Pro752=) c.2340T>C (p.Pro780=) c.2271T>C (p.Pro757=) c.1254T>C (p.Pro418=)
12	g.55693255A>T	CA480145499	ITGA7	c.2222T>A (n.2222T>A) c.1269T>A n.2013T>A c.2124T>A (p.Pro708=) c.2610T>A (p.Pro870=) c.2309T>A (n.2309T>A) n.704T>A c.1082T>A (n.1082T>A) c.1411T>A c.2598T>A (p.Pro866=) c.2580T>A (p.Pro860=) c.2319T>A (p.Pro773=) c.663T>A c.2730T>A (p.Pro910=) c.2712T>A (p.Pro904=) c.2391T>A (p.Pro797=) c.2259T>A (p.Pro753=) c.2256T>A (p.Pro752=) c.2340T>A (p.Pro780=) c.2271T>A (p.Pro757=) c.1254T>A (p.Pro418=)
12	g.55693256G>A	CA6615526	ITGA7	c.2221C>T (n.2221C>T) c.1268C>T n.2012C>T c.2123C>T (p.Pro708Leu) c.2609C>T (p.Pro870Leu) c.2308C>T (n.2308C>T) n.703C>T c.1081C>T (n.1081C>T) c.1410C>T c.2597C>T (p.Pro866Leu) c.2579C>T (p.Pro860Leu) c.2318C>T (p.Pro773Leu) c.662C>T c.2729C>T (p.Pro910Leu) c.2711C>T (p.Pro904Leu) c.2390C>T (p.Pro797Leu) c.2258C>T (p.Pro753Leu) c.2255C>T (p.Pro752Leu) c.2339C>T (p.Pro780Leu) c.2270C>T (p.Pro757Leu) c.1253C>T (p.Pro418Leu)	dbSNP ExAC
12	g.55693256G>C	CA385181708	ITGA7	c.2221C>G (n.2221C>G) c.1268C>G n.2012C>G c.2123C>G (p.Pro708Arg) c.2609C>G (p.Pro870Arg) c.2308C>G (n.2308C>G) n.703C>G c.1081C>G (n.1081C>G) c.1410C>G c.2597C>G (p.Pro866Arg) c.2579C>G (p.Pro860Arg) c.2318C>G (p.Pro773Arg) c.662C>G c.2729C>G (p.Pro910Arg) c.2711C>G (p.Pro904Arg) c.2390C>G (p.Pro797Arg) c.2258C>G (p.Pro753Arg) c.2255C>G (p.Pro752Arg) c.2339C>G (p.Pro780Arg) c.2270C>G (p.Pro757Arg) c.1253C>G (p.Pro418Arg)
12	g.55693256G=	CA2038035958	ITGA7	c.2221C= (n.2221C=) c.1268C= n.2012C= c.2123C= (p.Pro708=) c.2609C= (p.Pro870=) c.2308C= (n.2308C=) n.703C= c.1081C= (n.1081C=) c.1410C= c.2597C= (p.Pro866=) c.2579C= (p.Pro860=) c.2318C= (p.Pro773=) c.662C= c.2729C= (p.Pro910=) c.2711C= (p.Pro904=) c.2390C= (p.Pro797=) c.2258C= (p.Pro753=) c.2255C= (p.Pro752=) c.2339C= (p.Pro780=) c.2270C= (p.Pro757=) c.1253C= (p.Pro418=)
12	g.55693256G>T	CA385181709	ITGA7	c.2221C>A (n.2221C>A) c.1268C>A n.2012C>A c.2123C>A (p.Pro708His) c.2609C>A (p.Pro870His) c.2308C>A (n.2308C>A) n.703C>A c.1081C>A (n.1081C>A) c.1410C>A c.2597C>A (p.Pro866His) c.2579C>A (p.Pro860His) c.2318C>A (p.Pro773His) c.662C>A c.2729C>A (p.Pro910His) c.2711C>A (p.Pro904His) c.2390C>A (p.Pro797His) c.2258C>A (p.Pro753His) c.2255C>A (p.Pro752His) c.2339C>A (p.Pro780His) c.2270C>A (p.Pro757His) c.1253C>A (p.Pro418His)
12	g.55693257del	CA2575182696	ITGA7	c.2221del (n.2221del) c.1268del n.2012del c.2123del (p.Pro708LeufsTer?) c.2609del (p.Pro870LeufsTer?) c.2308del (n.2308del) n.703del c.1081del (n.1081del) c.1410del c.2597del (p.Pro866LeufsTer?) c.2579del (p.Pro860LeufsTer?) c.2318del (p.Pro773LeufsTer?) c.662del c.2729del (p.Pro910LeufsTer?) c.2711del (p.Pro904LeufsTer?) c.2390del (p.Pro797LeufsTer?) c.2258del (p.Pro753LeufsTer?) c.2255del (p.Pro752LeufsTer?) c.2339del (p.Pro780LeufsTer?) c.2270del (p.Pro757LeufsTer?) c.1253del (p.Pro418LeufsTer?)	gnomAD v4
12	g.55693257G>A	CA385181710	ITGA7	c.2220C>T (n.2220C>T) c.1267C>T n.2011C>T c.2122C>T (p.Pro708Ser) c.2608C>T (p.Pro870Ser) c.2307C>T (n.2307C>T) n.702C>T c.1080C>T (n.1080C>T) c.1409C>T c.2596C>T (p.Pro866Ser) c.2578C>T (p.Pro860Ser) c.2317C>T (p.Pro773Ser) c.661C>T c.2728C>T (p.Pro910Ser) c.2710C>T (p.Pro904Ser) c.2389C>T (p.Pro797Ser) c.2257C>T (p.Pro753Ser) c.2254C>T (p.Pro752Ser) c.2338C>T (p.Pro780Ser) c.2269C>T (p.Pro757Ser) c.1252C>T (p.Pro418Ser)	gnomAD v4
12	g.55693257G>C	CA385181711	ITGA7	c.2220C>G (n.2220C>G) c.1267C>G n.2011C>G c.2122C>G (p.Pro708Ala) c.2608C>G (p.Pro870Ala) c.2307C>G (n.2307C>G) n.702C>G c.1080C>G (n.1080C>G) c.1409C>G c.2596C>G (p.Pro866Ala) c.2578C>G (p.Pro860Ala) c.2317C>G (p.Pro773Ala) c.661C>G c.2728C>G (p.Pro910Ala) c.2710C>G (p.Pro904Ala) c.2389C>G (p.Pro797Ala) c.2257C>G (p.Pro753Ala) c.2254C>G (p.Pro752Ala) c.2338C>G (p.Pro780Ala) c.2269C>G (p.Pro757Ala) c.1252C>G (p.Pro418Ala)
12	g.55693257G>T	CA385181712	ITGA7	c.2220C>A (n.2220C>A) c.1267C>A n.2011C>A c.2122C>A (p.Pro708Thr) c.2608C>A (p.Pro870Thr) c.2307C>A (n.2307C>A) n.702C>A c.1080C>A (n.1080C>A) c.1409C>A c.2596C>A (p.Pro866Thr) c.2578C>A (p.Pro860Thr) c.2317C>A (p.Pro773Thr) c.661C>A c.2728C>A (p.Pro910Thr) c.2710C>A (p.Pro904Thr) c.2389C>A (p.Pro797Thr) c.2257C>A (p.Pro753Thr) c.2254C>A (p.Pro752Thr) c.2338C>A (p.Pro780Thr) c.2269C>A (p.Pro757Thr) c.1252C>A (p.Pro418Thr)
12	g.55693258C>A	CA385181714	ITGA7	c.2219G>T (n.2219G>T) c.1266G>T n.2010G>T c.2121G>T (p.Trp707Cys) c.2607G>T (p.Trp869Cys) c.2306G>T (n.2306G>T) n.701G>T c.1079G>T (n.1079G>T) c.1408G>T c.2595G>T (p.Trp865Cys) c.2577G>T (p.Trp859Cys) c.2316G>T (p.Trp772Cys) c.660G>T c.2727G>T (p.Trp909Cys) c.2709G>T (p.Trp903Cys) c.2388G>T (p.Trp796Cys) c.2256G>T (p.Trp752Cys) c.2253G>T (p.Trp751Cys) c.2337G>T (p.Trp779Cys) c.2268G>T (p.Trp756Cys) c.1251G>T (p.Trp417Cys)	COSMIC COSMIC COSMIC COSMIC
12	g.55693258C>G	CA385181715	ITGA7	c.2219G>C (n.2219G>C) c.1266G>C n.2010G>C c.2121G>C (p.Trp707Cys) c.2607G>C (p.Trp869Cys) c.2306G>C (n.2306G>C) n.701G>C c.1079G>C (n.1079G>C) c.1408G>C c.2595G>C (p.Trp865Cys) c.2577G>C (p.Trp859Cys) c.2316G>C (p.Trp772Cys) c.660G>C c.2727G>C (p.Trp909Cys) c.2709G>C (p.Trp903Cys) c.2388G>C (p.Trp796Cys) c.2256G>C (p.Trp752Cys) c.2253G>C (p.Trp751Cys) c.2337G>C (p.Trp779Cys) c.2268G>C (p.Trp756Cys) c.1251G>C (p.Trp417Cys)
12	g.55693258C>T	CA385181713	ITGA7	c.2219G>A (n.2219G>A) c.1266G>A n.2010G>A c.2121G>A (p.Trp707Ter) c.2607G>A (p.Trp869Ter) c.2306G>A (n.2306G>A) n.701G>A c.1079G>A (n.1079G>A) c.1408G>A c.2595G>A (p.Trp865Ter) c.2577G>A (p.Trp859Ter) c.2316G>A (p.Trp772Ter) c.660G>A c.2727G>A (p.Trp909Ter) c.2709G>A (p.Trp903Ter) c.2388G>A (p.Trp796Ter) c.2256G>A (p.Trp752Ter) c.2253G>A (p.Trp751Ter) c.2337G>A (p.Trp779Ter) c.2268G>A (p.Trp756Ter) c.1251G>A (p.Trp417Ter)
12	g.55693259C>A	CA385181716	ITGA7	c.2218G>T (n.2218G>T) c.1265G>T n.2009G>T c.2120G>T (p.Trp707Leu) c.2606G>T (p.Trp869Leu) c.2305G>T (n.2305G>T) n.700G>T c.1078G>T (n.1078G>T) c.1407G>T c.2594G>T (p.Trp865Leu) c.2576G>T (p.Trp859Leu) c.2315G>T (p.Trp772Leu) c.659G>T c.2726G>T (p.Trp909Leu) c.2708G>T (p.Trp903Leu) c.2387G>T (p.Trp796Leu) c.2255G>T (p.Trp752Leu) c.2252G>T (p.Trp751Leu) c.2336G>T (p.Trp779Leu) c.2267G>T (p.Trp756Leu) c.1250G>T (p.Trp417Leu)
12	g.55693259C>G	CA385181717	ITGA7	c.2218G>C (n.2218G>C) c.1265G>C n.2009G>C c.2120G>C (p.Trp707Ser) c.2606G>C (p.Trp869Ser) c.2305G>C (n.2305G>C) n.700G>C c.1078G>C (n.1078G>C) c.1407G>C c.2594G>C (p.Trp865Ser) c.2576G>C (p.Trp859Ser) c.2315G>C (p.Trp772Ser) c.659G>C c.2726G>C (p.Trp909Ser) c.2708G>C (p.Trp903Ser) c.2387G>C (p.Trp796Ser) c.2255G>C (p.Trp752Ser) c.2252G>C (p.Trp751Ser) c.2336G>C (p.Trp779Ser) c.2267G>C (p.Trp756Ser) c.1250G>C (p.Trp417Ser)
12	g.55693259C>T	CA385181718	ITGA7	c.2218G>A (n.2218G>A) c.1265G>A n.2009G>A c.2120G>A (p.Trp707Ter) c.2606G>A (p.Trp869Ter) c.2305G>A (n.2305G>A) n.700G>A c.1078G>A (n.1078G>A) c.1407G>A c.2594G>A (p.Trp865Ter) c.2576G>A (p.Trp859Ter) c.2315G>A (p.Trp772Ter) c.659G>A c.2726G>A (p.Trp909Ter) c.2708G>A (p.Trp903Ter) c.2387G>A (p.Trp796Ter) c.2255G>A (p.Trp752Ter) c.2252G>A (p.Trp751Ter) c.2336G>A (p.Trp779Ter) c.2267G>A (p.Trp756Ter) c.1250G>A (p.Trp417Ter)
12	g.55693260A=	CA2038035962	ITGA7	c.2217T= (n.2217T=) c.1264T= n.2008T= c.2119T= (p.Trp707=) c.2605T= (p.Trp869=) c.2304T= (n.2304T=) n.699T= c.1077T= (n.1077T=) c.1406T= c.2593T= (p.Trp865=) c.2575T= (p.Trp859=) c.2314T= (p.Trp772=) c.658T= c.2725T= (p.Trp909=) c.2707T= (p.Trp903=) c.2386T= (p.Trp796=) c.2254T= (p.Trp752=) c.2251T= (p.Trp751=) c.2335T= (p.Trp779=) c.2266T= (p.Trp756=) c.1249T= (p.Trp417=)
12	g.55693260A>C	CA385181719	ITGA7	c.2217T>G (n.2217T>G) c.1264T>G n.2008T>G c.2119T>G (p.Trp707Gly) c.2605T>G (p.Trp869Gly) c.2304T>G (n.2304T>G) n.699T>G c.1077T>G (n.1077T>G) c.1406T>G c.2593T>G (p.Trp865Gly) c.2575T>G (p.Trp859Gly) c.2314T>G (p.Trp772Gly) c.658T>G c.2725T>G (p.Trp909Gly) c.2707T>G (p.Trp903Gly) c.2386T>G (p.Trp796Gly) c.2254T>G (p.Trp752Gly) c.2251T>G (p.Trp751Gly) c.2335T>G (p.Trp779Gly) c.2266T>G (p.Trp756Gly) c.1249T>G (p.Trp417Gly)	gnomAD v4
12	g.55693260A>G	CA385181720	ITGA7	c.2217T>C (n.2217T>C) c.1264T>C n.2008T>C c.2119T>C (p.Trp707Arg) c.2605T>C (p.Trp869Arg) c.2304T>C (n.2304T>C) n.699T>C c.1077T>C (n.1077T>C) c.1406T>C c.2593T>C (p.Trp865Arg) c.2575T>C (p.Trp859Arg) c.2314T>C (p.Trp772Arg) c.658T>C c.2725T>C (p.Trp909Arg) c.2707T>C (p.Trp903Arg) c.2386T>C (p.Trp796Arg) c.2254T>C (p.Trp752Arg) c.2251T>C (p.Trp751Arg) c.2335T>C (p.Trp779Arg) c.2266T>C (p.Trp756Arg) c.1249T>C (p.Trp417Arg)
12	g.55693260A>T	CA385181721	ITGA7	c.2217T>A (n.2217T>A) c.1264T>A n.2008T>A c.2119T>A (p.Trp707Arg) c.2605T>A (p.Trp869Arg) c.2304T>A (n.2304T>A) n.699T>A c.1077T>A (n.1077T>A) c.1406T>A c.2593T>A (p.Trp865Arg) c.2575T>A (p.Trp859Arg) c.2314T>A (p.Trp772Arg) c.658T>A c.2725T>A (p.Trp909Arg) c.2707T>A (p.Trp903Arg) c.2386T>A (p.Trp796Arg) c.2254T>A (p.Trp752Arg) c.2251T>A (p.Trp751Arg) c.2335T>A (p.Trp779Arg) c.2266T>A (p.Trp756Arg) c.1249T>A (p.Trp417Arg)
12	g.55693260_55693261insTCT	CA605246984	ITGA7	c.2216_2217insAGA (n.2216_2217insAGA) c.1263_1264insAGA n.2007_2008insAGA c.2118_2119insAGA (p.Met706_Trp707insArg) c.2604_2605insAGA (p.Met868_Trp869insArg) c.2303_2304insAGA (n.2303_2304insAGA) n.698_699insAGA c.1076_1077insAGA (n.1076_1077insAGA) c.1405_1406insAGA c.2592_2593insAGA (p.Met864_Trp865insArg) c.2574_2575insAGA (p.Met858_Trp859insArg) c.2313_2314insAGA (p.Met771_Trp772insArg) c.657_658insAGA c.2724_2725insAGA (p.Met908_Trp909insArg) c.2706_2707insAGA (p.Met902_Trp903insArg) c.2385_2386insAGA (p.Met795_Trp796insArg) c.2253_2254insAGA (p.Met751_Trp752insArg) c.2250_2251insAGA (p.Met750_Trp751insArg) c.2334_2335insAGA (p.Met778_Trp779insArg) c.2265_2266insAGA (p.Met755_Trp756insArg) c.1248_1249insAGA (p.Met416_Trp417insArg)	dbSNP gnomAD v2 gnomAD v4
12	g.55693261C>A	CA385181722	ITGA7	c.2216G>T (n.2216G>T) c.1263G>T n.2007G>T c.2118G>T (p.Met706Ile) c.2604G>T (p.Met868Ile) c.2303G>T (n.2303G>T) n.698G>T c.1076G>T (n.1076G>T) c.1405G>T c.2592G>T (p.Met864Ile) c.2574G>T (p.Met858Ile) c.2313G>T (p.Met771Ile) c.657G>T c.2724G>T (p.Met908Ile) c.2706G>T (p.Met902Ile) c.2385G>T (p.Met795Ile) c.2253G>T (p.Met751Ile) c.2250G>T (p.Met750Ile) c.2334G>T (p.Met778Ile) c.2265G>T (p.Met755Ile) c.1248G>T (p.Met416Ile)
12	g.55693261C>G	CA385181723	ITGA7	c.2216G>C (n.2216G>C) c.1263G>C n.2007G>C c.2118G>C (p.Met706Ile) c.2604G>C (p.Met868Ile) c.2303G>C (n.2303G>C) n.698G>C c.1076G>C (n.1076G>C) c.1405G>C c.2592G>C (p.Met864Ile) c.2574G>C (p.Met858Ile) c.2313G>C (p.Met771Ile) c.657G>C c.2724G>C (p.Met908Ile) c.2706G>C (p.Met902Ile) c.2385G>C (p.Met795Ile) c.2253G>C (p.Met751Ile) c.2250G>C (p.Met750Ile) c.2334G>C (p.Met778Ile) c.2265G>C (p.Met755Ile) c.1248G>C (p.Met416Ile)	dbSNP
12	g.55693261C>T	CA385181724	ITGA7	c.2216G>A (n.2216G>A) c.1263G>A n.2007G>A c.2118G>A (p.Met706Ile) c.2604G>A (p.Met868Ile) c.2303G>A (n.2303G>A) n.698G>A c.1076G>A (n.1076G>A) c.1405G>A c.2592G>A (p.Met864Ile) c.2574G>A (p.Met858Ile) c.2313G>A (p.Met771Ile) c.657G>A c.2724G>A (p.Met908Ile) c.2706G>A (p.Met902Ile) c.2385G>A (p.Met795Ile) c.2253G>A (p.Met751Ile) c.2250G>A (p.Met750Ile) c.2334G>A (p.Met778Ile) c.2265G>A (p.Met755Ile) c.1248G>A (p.Met416Ile)
12	g.55693262del	CA2619199403	ITGA7	c.2215del (n.2215del) c.1262del n.2006del c.2117del (p.Met706SerfsTer?) c.2603del (p.Met868SerfsTer?) c.2302del (n.2302del) n.697del c.1075del (n.1075del) c.1404del c.2591del (p.Met864SerfsTer?) c.2573del (p.Met858SerfsTer?) c.2312del (p.Met771SerfsTer?) c.656del c.2723del (p.Met908SerfsTer?) c.2705del (p.Met902SerfsTer?) c.2384del (p.Met795SerfsTer?) c.2252del (p.Met751SerfsTer?) c.2249del (p.Met750SerfsTer?) c.2333del (p.Met778SerfsTer?) c.2264del (p.Met755SerfsTer?) c.1247del (p.Met416SerfsTer?)	gnomAD v4
12	g.55693262A>C	CA385181725	ITGA7	c.2215T>G (n.2215T>G) c.1262T>G n.2006T>G c.2117T>G (p.Met706Arg) c.2603T>G (p.Met868Arg) c.2302T>G (n.2302T>G) n.697T>G c.1075T>G (n.1075T>G) c.1404T>G c.2591T>G (p.Met864Arg) c.2573T>G (p.Met858Arg) c.2312T>G (p.Met771Arg) c.656T>G c.2723T>G (p.Met908Arg) c.2705T>G (p.Met902Arg) c.2384T>G (p.Met795Arg) c.2252T>G (p.Met751Arg) c.2249T>G (p.Met750Arg) c.2333T>G (p.Met778Arg) c.2264T>G (p.Met755Arg) c.1247T>G (p.Met416Arg)
12	g.55693262A>G	CA385181726	ITGA7	c.2215T>C (n.2215T>C) c.1262T>C n.2006T>C c.2117T>C (p.Met706Thr) c.2603T>C (p.Met868Thr) c.2302T>C (n.2302T>C) n.697T>C c.1075T>C (n.1075T>C) c.1404T>C c.2591T>C (p.Met864Thr) c.2573T>C (p.Met858Thr) c.2312T>C (p.Met771Thr) c.656T>C c.2723T>C (p.Met908Thr) c.2705T>C (p.Met902Thr) c.2384T>C (p.Met795Thr) c.2252T>C (p.Met751Thr) c.2249T>C (p.Met750Thr) c.2333T>C (p.Met778Thr) c.2264T>C (p.Met755Thr) c.1247T>C (p.Met416Thr)
12	g.55693262A>T	CA385181727	ITGA7	c.2215T>A (n.2215T>A) c.1262T>A n.2006T>A c.2117T>A (p.Met706Lys) c.2603T>A (p.Met868Lys) c.2302T>A (n.2302T>A) n.697T>A c.1075T>A (n.1075T>A) c.1404T>A c.2591T>A (p.Met864Lys) c.2573T>A (p.Met858Lys) c.2312T>A (p.Met771Lys) c.656T>A c.2723T>A (p.Met908Lys) c.2705T>A (p.Met902Lys) c.2384T>A (p.Met795Lys) c.2252T>A (p.Met751Lys) c.2249T>A (p.Met750Lys) c.2333T>A (p.Met778Lys) c.2264T>A (p.Met755Lys) c.1247T>A (p.Met416Lys)
12	g.55693263T>A	CA385181728	ITGA7	c.2214A>T (n.2214A>T) c.1261A>T n.2005A>T c.2116A>T (p.Met706Leu) c.2602A>T (p.Met868Leu) c.2301A>T (n.2301A>T) n.696A>T c.1074A>T (n.1074A>T) c.1403A>T c.2590A>T (p.Met864Leu) c.2572A>T (p.Met858Leu) c.2311A>T (p.Met771Leu) c.655A>T c.2722A>T (p.Met908Leu) c.2704A>T (p.Met902Leu) c.2383A>T (p.Met795Leu) c.2251A>T (p.Met751Leu) c.2248A>T (p.Met750Leu) c.2332A>T (p.Met778Leu) c.2263A>T (p.Met755Leu) c.1246A>T (p.Met416Leu)
12	g.55693263T>C	CA385181729	ITGA7	c.2214A>G (n.2214A>G) c.1261A>G n.2005A>G c.2116A>G (p.Met706Val) c.2602A>G (p.Met868Val) c.2301A>G (n.2301A>G) n.696A>G c.1074A>G (n.1074A>G) c.1403A>G c.2590A>G (p.Met864Val) c.2572A>G (p.Met858Val) c.2311A>G (p.Met771Val) c.655A>G c.2722A>G (p.Met908Val) c.2704A>G (p.Met902Val) c.2383A>G (p.Met795Val) c.2251A>G (p.Met751Val) c.2248A>G (p.Met750Val) c.2332A>G (p.Met778Val) c.2263A>G (p.Met755Val) c.1246A>G (p.Met416Val)	ClinVar gnomAD v4
12	g.55693263T>G	CA385181730	ITGA7	c.2214A>C (n.2214A>C) c.1261A>C n.2005A>C c.2116A>C (p.Met706Leu) c.2602A>C (p.Met868Leu) c.2301A>C (n.2301A>C) n.696A>C c.1074A>C (n.1074A>C) c.1403A>C c.2590A>C (p.Met864Leu) c.2572A>C (p.Met858Leu) c.2311A>C (p.Met771Leu) c.655A>C c.2722A>C (p.Met908Leu) c.2704A>C (p.Met902Leu) c.2383A>C (p.Met795Leu) c.2251A>C (p.Met751Leu) c.2248A>C (p.Met750Leu) c.2332A>C (p.Met778Leu) c.2263A>C (p.Met755Leu) c.1246A>C (p.Met416Leu)	gnomAD v4
12	g.55693264G>A	CA480145522	ITGA7	c.2213C>T (n.2213C>T) c.1260C>T n.2004C>T c.2115C>T (p.Ile705=) c.2601C>T (p.Ile867=) c.2300C>T (n.2300C>T) n.695C>T c.1073C>T (n.1073C>T) c.1402C>T c.2589C>T (p.Ile863=) c.2571C>T (p.Ile857=) c.2310C>T (p.Ile770=) c.654C>T c.2721C>T (p.Ile907=) c.2703C>T (p.Ile901=) c.2382C>T (p.Ile794=) c.2250C>T (p.Ile750=) c.2247C>T (p.Ile749=) c.2331C>T (p.Ile777=) c.2262C>T (p.Ile754=) c.1245C>T (p.Ile415=)
12	g.55693264G>C	CA385181731	ITGA7	c.2213C>G (n.2213C>G) c.1260C>G n.2004C>G c.2115C>G (p.Ile705Met) c.2601C>G (p.Ile867Met) c.2300C>G (n.2300C>G) n.695C>G c.1073C>G (n.1073C>G) c.1402C>G c.2589C>G (p.Ile863Met) c.2571C>G (p.Ile857Met) c.2310C>G (p.Ile770Met) c.654C>G c.2721C>G (p.Ile907Met) c.2703C>G (p.Ile901Met) c.2382C>G (p.Ile794Met) c.2250C>G (p.Ile750Met) c.2247C>G (p.Ile749Met) c.2331C>G (p.Ile777Met) c.2262C>G (p.Ile754Met) c.1245C>G (p.Ile415Met)	gnomAD v4
12	g.55693264G>T	CA480145525	ITGA7	c.2213C>A (n.2213C>A) c.1260C>A n.2004C>A c.2115C>A (p.Ile705=) c.2601C>A (p.Ile867=) c.2300C>A (n.2300C>A) n.695C>A c.1073C>A (n.1073C>A) c.1402C>A c.2589C>A (p.Ile863=) c.2571C>A (p.Ile857=) c.2310C>A (p.Ile770=) c.654C>A c.2721C>A (p.Ile907=) c.2703C>A (p.Ile901=) c.2382C>A (p.Ile794=) c.2250C>A (p.Ile750=) c.2247C>A (p.Ile749=) c.2331C>A (p.Ile777=) c.2262C>A (p.Ile754=) c.1245C>A (p.Ile415=)
12	g.55693265A>C	CA385181732	ITGA7	c.2212T>G (n.2212T>G) c.1259T>G n.2003T>G c.2114T>G (p.Ile705Ser) c.2600T>G (p.Ile867Ser) c.2299T>G (n.2299T>G) n.694T>G c.1072T>G (n.1072T>G) c.1401T>G c.2588T>G (p.Ile863Ser) c.2570T>G (p.Ile857Ser) c.2309T>G (p.Ile770Ser) c.653T>G c.2720T>G (p.Ile907Ser) c.2702T>G (p.Ile901Ser) c.2381T>G (p.Ile794Ser) c.2249T>G (p.Ile750Ser) c.2246T>G (p.Ile749Ser) c.2330T>G (p.Ile777Ser) c.2261T>G (p.Ile754Ser) c.1244T>G (p.Ile415Ser)
12	g.55693265A>G	CA385181733	ITGA7	c.2212T>C (n.2212T>C) c.1259T>C n.2003T>C c.2114T>C (p.Ile705Thr) c.2600T>C (p.Ile867Thr) c.2299T>C (n.2299T>C) n.694T>C c.1072T>C (n.1072T>C) c.1401T>C c.2588T>C (p.Ile863Thr) c.2570T>C (p.Ile857Thr) c.2309T>C (p.Ile770Thr) c.653T>C c.2720T>C (p.Ile907Thr) c.2702T>C (p.Ile901Thr) c.2381T>C (p.Ile794Thr) c.2249T>C (p.Ile750Thr) c.2246T>C (p.Ile749Thr) c.2330T>C (p.Ile777Thr) c.2261T>C (p.Ile754Thr) c.1244T>C (p.Ile415Thr)
12	g.55693265A>T	CA385181734	ITGA7	c.2212T>A (n.2212T>A) c.1259T>A n.2003T>A c.2114T>A (p.Ile705Asn) c.2600T>A (p.Ile867Asn) c.2299T>A (n.2299T>A) n.694T>A c.1072T>A (n.1072T>A) c.1401T>A c.2588T>A (p.Ile863Asn) c.2570T>A (p.Ile857Asn) c.2309T>A (p.Ile770Asn) c.653T>A c.2720T>A (p.Ile907Asn) c.2702T>A (p.Ile901Asn) c.2381T>A (p.Ile794Asn) c.2249T>A (p.Ile750Asn) c.2246T>A (p.Ile749Asn) c.2330T>A (p.Ile777Asn) c.2261T>A (p.Ile754Asn) c.1244T>A (p.Ile415Asn)
12	g.55693266T>A	CA385181735	ITGA7	c.2211A>T (n.2211A>T) c.1258A>T n.2002A>T c.2113A>T (p.Ile705Phe) c.2599A>T (p.Ile867Phe) c.2298A>T (n.2298A>T) n.693A>T c.1071A>T (n.1071A>T) c.1400A>T c.2587A>T (p.Ile863Phe) c.2569A>T (p.Ile857Phe) c.2308A>T (p.Ile770Phe) c.652A>T c.2719A>T (p.Ile907Phe) c.2701A>T (p.Ile901Phe) c.2380A>T (p.Ile794Phe) c.2248A>T (p.Ile750Phe) c.2245A>T (p.Ile749Phe) c.2329A>T (p.Ile777Phe) c.2260A>T (p.Ile754Phe) c.1243A>T (p.Ile415Phe)
12	g.55693266T>C	CA385181736	ITGA7	c.2211A>G (n.2211A>G) c.1258A>G n.2002A>G c.2113A>G (p.Ile705Val) c.2599A>G (p.Ile867Val) c.2298A>G (n.2298A>G) n.693A>G c.1071A>G (n.1071A>G) c.1400A>G c.2587A>G (p.Ile863Val) c.2569A>G (p.Ile857Val) c.2308A>G (p.Ile770Val) c.652A>G c.2719A>G (p.Ile907Val) c.2701A>G (p.Ile901Val) c.2380A>G (p.Ile794Val) c.2248A>G (p.Ile750Val) c.2245A>G (p.Ile749Val) c.2329A>G (p.Ile777Val) c.2260A>G (p.Ile754Val) c.1243A>G (p.Ile415Val)
12	g.55693266T>G	CA385181737	ITGA7	c.2211A>C (n.2211A>C) c.1258A>C n.2002A>C c.2113A>C (p.Ile705Leu) c.2599A>C (p.Ile867Leu) c.2298A>C (n.2298A>C) n.693A>C c.1071A>C (n.1071A>C) c.1400A>C c.2587A>C (p.Ile863Leu) c.2569A>C (p.Ile857Leu) c.2308A>C (p.Ile770Leu) c.652A>C c.2719A>C (p.Ile907Leu) c.2701A>C (p.Ile901Leu) c.2380A>C (p.Ile794Leu) c.2248A>C (p.Ile750Leu) c.2245A>C (p.Ile749Leu) c.2329A>C (p.Ile777Leu) c.2260A>C (p.Ile754Leu) c.1243A>C (p.Ile415Leu)
12	g.55693267G>A	CA480145531	ITGA7	c.2210C>T (n.2210C>T) c.1257C>T n.2001C>T c.2112C>T (p.Asn704=) c.2598C>T (p.Asn866=) c.2297C>T (n.2297C>T) n.692C>T c.1070C>T (n.1070C>T) c.1399C>T c.2586C>T (p.Asn862=) c.2568C>T (p.Asn856=) c.2307C>T (p.Asn769=) c.651C>T c.2718C>T (p.Asn906=) c.2700C>T (p.Asn900=) c.2379C>T (p.Asn793=) c.2247C>T (p.Asn749=) c.2244C>T (p.Asn748=) c.2328C>T (p.Asn776=) c.2259C>T (p.Asn753=) c.1242C>T (p.Asn414=)	dbSNP
12	g.55693267G>C	CA385181738	ITGA7	c.2210C>G (n.2210C>G) c.1257C>G n.2001C>G c.2112C>G (p.Asn704Lys) c.2598C>G (p.Asn866Lys) c.2297C>G (n.2297C>G) n.692C>G c.1070C>G (n.1070C>G) c.1399C>G c.2586C>G (p.Asn862Lys) c.2568C>G (p.Asn856Lys) c.2307C>G (p.Asn769Lys) c.651C>G c.2718C>G (p.Asn906Lys) c.2700C>G (p.Asn900Lys) c.2379C>G (p.Asn793Lys) c.2247C>G (p.Asn749Lys) c.2244C>G (p.Asn748Lys) c.2328C>G (p.Asn776Lys) c.2259C>G (p.Asn753Lys) c.1242C>G (p.Asn414Lys)
12	g.55693267G=	CA2038035966	ITGA7	c.2210C= (n.2210C=) c.1257C= n.2001C= c.2112C= (p.Asn704=) c.2598C= (p.Asn866=) c.2297C= (n.2297C=) n.692C= c.1070C= (n.1070C=) c.1399C= c.2586C= (p.Asn862=) c.2568C= (p.Asn856=) c.2307C= (p.Asn769=) c.651C= c.2718C= (p.Asn906=) c.2700C= (p.Asn900=) c.2379C= (p.Asn793=) c.2247C= (p.Asn749=) c.2244C= (p.Asn748=) c.2328C= (p.Asn776=) c.2259C= (p.Asn753=) c.1242C= (p.Asn414=)
12	g.55693267G>T	CA385181739	ITGA7	c.2210C>A (n.2210C>A) c.1257C>A n.2001C>A c.2112C>A (p.Asn704Lys) c.2598C>A (p.Asn866Lys) c.2297C>A (n.2297C>A) n.692C>A c.1070C>A (n.1070C>A) c.1399C>A c.2586C>A (p.Asn862Lys) c.2568C>A (p.Asn856Lys) c.2307C>A (p.Asn769Lys) c.651C>A c.2718C>A (p.Asn906Lys) c.2700C>A (p.Asn900Lys) c.2379C>A (p.Asn793Lys) c.2247C>A (p.Asn749Lys) c.2244C>A (p.Asn748Lys) c.2328C>A (p.Asn776Lys) c.2259C>A (p.Asn753Lys) c.1242C>A (p.Asn414Lys)
12	g.55693268T>A	CA385181740	ITGA7	c.2209A>T (n.2209A>T) c.1256A>T n.2000A>T c.2111A>T (p.Asn704Ile) c.2597A>T (p.Asn866Ile) c.2296A>T (n.2296A>T) n.691A>T c.1069A>T (n.1069A>T) c.1398A>T c.2585A>T (p.Asn862Ile) c.2567A>T (p.Asn856Ile) c.2306A>T (p.Asn769Ile) c.650A>T c.2717A>T (p.Asn906Ile) c.2699A>T (p.Asn900Ile) c.2378A>T (p.Asn793Ile) c.2246A>T (p.Asn749Ile) c.2243A>T (p.Asn748Ile) c.2327A>T (p.Asn776Ile) c.2258A>T (p.Asn753Ile) c.1241A>T (p.Asn414Ile)
12	g.55693268T>C	CA385181741	ITGA7	c.2209A>G (n.2209A>G) c.1256A>G n.2000A>G c.2111A>G (p.Asn704Ser) c.2597A>G (p.Asn866Ser) c.2296A>G (n.2296A>G) n.691A>G c.1069A>G (n.1069A>G) c.1398A>G c.2585A>G (p.Asn862Ser) c.2567A>G (p.Asn856Ser) c.2306A>G (p.Asn769Ser) c.650A>G c.2717A>G (p.Asn906Ser) c.2699A>G (p.Asn900Ser) c.2378A>G (p.Asn793Ser) c.2246A>G (p.Asn749Ser) c.2243A>G (p.Asn748Ser) c.2327A>G (p.Asn776Ser) c.2258A>G (p.Asn753Ser) c.1241A>G (p.Asn414Ser)	ClinVar dbSNP
12	g.55693268T>G	CA385181742	ITGA7	c.2209A>C (n.2209A>C) c.1256A>C n.2000A>C c.2111A>C (p.Asn704Thr) c.2597A>C (p.Asn866Thr) c.2296A>C (n.2296A>C) n.691A>C c.1069A>C (n.1069A>C) c.1398A>C c.2585A>C (p.Asn862Thr) c.2567A>C (p.Asn856Thr) c.2306A>C (p.Asn769Thr) c.650A>C c.2717A>C (p.Asn906Thr) c.2699A>C (p.Asn900Thr) c.2378A>C (p.Asn793Thr) c.2246A>C (p.Asn749Thr) c.2243A>C (p.Asn748Thr) c.2327A>C (p.Asn776Thr) c.2258A>C (p.Asn753Thr) c.1241A>C (p.Asn414Thr)
12	g.55693269T>A	CA385181743	ITGA7	c.2208A>T (n.2208A>T) c.1255A>T n.1999A>T c.2110A>T (p.Asn704Tyr) c.2596A>T (p.Asn866Tyr) c.2295A>T (n.2295A>T) n.690A>T c.1068A>T (n.1068A>T) c.1397A>T c.2584A>T (p.Asn862Tyr) c.2566A>T (p.Asn856Tyr) c.2305A>T (p.Asn769Tyr) c.649A>T c.2716A>T (p.Asn906Tyr) c.2698A>T (p.Asn900Tyr) c.2377A>T (p.Asn793Tyr) c.2245A>T (p.Asn749Tyr) c.2242A>T (p.Asn748Tyr) c.2326A>T (p.Asn776Tyr) c.2257A>T (p.Asn753Tyr) c.1240A>T (p.Asn414Tyr)
12	g.55693269T>C	CA385181744	ITGA7	c.2208A>G (n.2208A>G) c.1255A>G n.1999A>G c.2110A>G (p.Asn704Asp) c.2596A>G (p.Asn866Asp) c.2295A>G (n.2295A>G) n.690A>G c.1068A>G (n.1068A>G) c.1397A>G c.2584A>G (p.Asn862Asp) c.2566A>G (p.Asn856Asp) c.2305A>G (p.Asn769Asp) c.649A>G c.2716A>G (p.Asn906Asp) c.2698A>G (p.Asn900Asp) c.2377A>G (p.Asn793Asp) c.2245A>G (p.Asn749Asp) c.2242A>G (p.Asn748Asp) c.2326A>G (p.Asn776Asp) c.2257A>G (p.Asn753Asp) c.1240A>G (p.Asn414Asp)
12	g.55693269T>G	CA385181745	ITGA7	c.2208A>C (n.2208A>C) c.1255A>C n.1999A>C c.2110A>C (p.Asn704His) c.2596A>C (p.Asn866His) c.2295A>C (n.2295A>C) n.690A>C c.1068A>C (n.1068A>C) c.1397A>C c.2584A>C (p.Asn862His) c.2566A>C (p.Asn856His) c.2305A>C (p.Asn769His) c.649A>C c.2716A>C (p.Asn906His) c.2698A>C (p.Asn900His) c.2377A>C (p.Asn793His) c.2245A>C (p.Asn749His) c.2242A>C (p.Asn748His) c.2326A>C (p.Asn776His) c.2257A>C (p.Asn753His) c.1240A>C (p.Asn414His)	dbSNP gnomAD v2 gnomAD v4
12	g.55693269T=	CA2038035967	ITGA7	c.2208A= (n.2208A=) c.1255A= n.1999A= c.2110A= (p.Asn704=) c.2596A= (p.Asn866=) c.2295A= (n.2295A=) n.690A= c.1068A= (n.1068A=) c.1397A= c.2584A= (p.Asn862=) c.2566A= (p.Asn856=) c.2305A= (p.Asn769=) c.649A= c.2716A= (p.Asn906=) c.2698A= (p.Asn900=) c.2377A= (p.Asn793=) c.2245A= (p.Asn749=) c.2242A= (p.Asn748=) c.2326A= (p.Asn776=) c.2257A= (p.Asn753=) c.1240A= (p.Asn414=)
12	g.55693270G>A	CA480145537	ITGA7	c.2207C>T (n.2207C>T) c.1254C>T n.1998C>T c.2109C>T (p.Leu703=) c.2595C>T (p.Leu865=) c.2294C>T (n.2294C>T) n.689C>T c.1067C>T (n.1067C>T) c.1396C>T c.2583C>T (p.Leu861=) c.2565C>T (p.Leu855=) c.2304C>T (p.Leu768=) c.648C>T c.2715C>T (p.Leu905=) c.2697C>T (p.Leu899=) c.2376C>T (p.Leu792=) c.2244C>T (p.Leu748=) c.2241C>T (p.Leu747=) c.2325C>T (p.Leu775=) c.2256C>T (p.Leu752=) c.1239C>T (p.Leu413=)
12	g.55693270G>C	CA480145539	ITGA7	c.2207C>G (n.2207C>G) c.1254C>G n.1998C>G c.2109C>G (p.Leu703=) c.2595C>G (p.Leu865=) c.2294C>G (n.2294C>G) n.689C>G c.1067C>G (n.1067C>G) c.1396C>G c.2583C>G (p.Leu861=) c.2565C>G (p.Leu855=) c.2304C>G (p.Leu768=) c.648C>G c.2715C>G (p.Leu905=) c.2697C>G (p.Leu899=) c.2376C>G (p.Leu792=) c.2244C>G (p.Leu748=) c.2241C>G (p.Leu747=) c.2325C>G (p.Leu775=) c.2256C>G (p.Leu752=) c.1239C>G (p.Leu413=)
12	g.55693270G>T	CA480145541	ITGA7	c.2207C>A (n.2207C>A) c.1254C>A n.1998C>A c.2109C>A (p.Leu703=) c.2595C>A (p.Leu865=) c.2294C>A (n.2294C>A) n.689C>A c.1067C>A (n.1067C>A) c.1396C>A c.2583C>A (p.Leu861=) c.2565C>A (p.Leu855=) c.2304C>A (p.Leu768=) c.648C>A c.2715C>A (p.Leu905=) c.2697C>A (p.Leu899=) c.2376C>A (p.Leu792=) c.2244C>A (p.Leu748=) c.2241C>A (p.Leu747=) c.2325C>A (p.Leu775=) c.2256C>A (p.Leu752=) c.1239C>A (p.Leu413=)
12	g.55693270_55693271delinsGA	CA2038035970	ITGA7	c.2206_2207delinsTC (n.2206_2207delinsTC) c.1253_1254delinsTC n.1997_1998delinsTC c.2108_2109delinsTC (p.Leu703=) c.2594_2595delinsTC (p.Leu865=) c.2293_2294delinsTC (n.2293_2294delinsTC) n.688_689delinsTC c.1066_1067delinsTC (n.1066_1067delinsTC) c.1395_1396delinsTC c.2582_2583delinsTC (p.Leu861=) c.2564_2565delinsTC (p.Leu855=) c.2303_2304delinsTC (p.Leu768=) c.647_648delinsTC c.2714_2715delinsTC (p.Leu905=) c.2696_2697delinsTC (p.Leu899=) c.2375_2376delinsTC (p.Leu792=) c.2243_2244delinsTC (p.Leu748=) c.2240_2241delinsTC (p.Leu747=) c.2324_2325delinsTC (p.Leu775=) c.2255_2256delinsTC (p.Leu752=) c.1238_1239delinsTC (p.Leu413=)
12	g.55693271del	CA2038035980	ITGA7	c.2206del (n.2206del) c.1253del n.1997del c.2108del (p.Leu703ProfsTer?) c.2594del (p.Leu865ProfsTer?) c.2293del (n.2293del) n.688del c.1066del (n.1066del) c.1395del c.2582del (p.Leu861ProfsTer?) c.2564del (p.Leu855ProfsTer?) c.2303del (p.Leu768ProfsTer?) c.647del c.2714del (p.Leu905ProfsTer?) c.2696del (p.Leu899ProfsTer?) c.2375del (p.Leu792ProfsTer?) c.2243del (p.Leu748ProfsTer?) c.2240del (p.Leu747ProfsTer?) c.2324del (p.Leu775ProfsTer?) c.2255del (p.Leu752ProfsTer?) c.1238del (p.Leu413ProfsTer?)	dbSNP
12	g.55693271A>C	CA385181748	ITGA7	c.2206T>G (n.2206T>G) c.1253T>G n.1997T>G c.2108T>G (p.Leu703Arg) c.2594T>G (p.Leu865Arg) c.2293T>G (n.2293T>G) n.688T>G c.1066T>G (n.1066T>G) c.1395T>G c.2582T>G (p.Leu861Arg) c.2564T>G (p.Leu855Arg) c.2303T>G (p.Leu768Arg) c.647T>G c.2714T>G (p.Leu905Arg) c.2696T>G (p.Leu899Arg) c.2375T>G (p.Leu792Arg) c.2243T>G (p.Leu748Arg) c.2240T>G (p.Leu747Arg) c.2324T>G (p.Leu775Arg) c.2255T>G (p.Leu752Arg) c.1238T>G (p.Leu413Arg)
12	g.55693271A>G	CA385181746	ITGA7	c.2206T>C (n.2206T>C) c.1253T>C n.1997T>C c.2108T>C (p.Leu703Pro) c.2594T>C (p.Leu865Pro) c.2293T>C (n.2293T>C) n.688T>C c.1066T>C (n.1066T>C) c.1395T>C c.2582T>C (p.Leu861Pro) c.2564T>C (p.Leu855Pro) c.2303T>C (p.Leu768Pro) c.647T>C c.2714T>C (p.Leu905Pro) c.2696T>C (p.Leu899Pro) c.2375T>C (p.Leu792Pro) c.2243T>C (p.Leu748Pro) c.2240T>C (p.Leu747Pro) c.2324T>C (p.Leu775Pro) c.2255T>C (p.Leu752Pro) c.1238T>C (p.Leu413Pro)
12	g.55693271A>T	CA385181747	ITGA7	c.2206T>A (n.2206T>A) c.1253T>A n.1997T>A c.2108T>A (p.Leu703His) c.2594T>A (p.Leu865His) c.2293T>A (n.2293T>A) n.688T>A c.1066T>A (n.1066T>A) c.1395T>A c.2582T>A (p.Leu861His) c.2564T>A (p.Leu855His) c.2303T>A (p.Leu768His) c.647T>A c.2714T>A (p.Leu905His) c.2696T>A (p.Leu899His) c.2375T>A (p.Leu792His) c.2243T>A (p.Leu748His) c.2240T>A (p.Leu747His) c.2324T>A (p.Leu775His) c.2255T>A (p.Leu752His) c.1238T>A (p.Leu413His)
12	g.55693272G>A	CA385181749	ITGA7	c.2205C>T (n.2205C>T) c.1252C>T n.1996C>T c.2107C>T (p.Leu703Phe) c.2593C>T (p.Leu865Phe) c.2292C>T (n.2292C>T) n.687C>T c.1065C>T (n.1065C>T) c.1394C>T c.2581C>T (p.Leu861Phe) c.2563C>T (p.Leu855Phe) c.2302C>T (p.Leu768Phe) c.646C>T c.2713C>T (p.Leu905Phe) c.2695C>T (p.Leu899Phe) c.2374C>T (p.Leu792Phe) c.2242C>T (p.Leu748Phe) c.2239C>T (p.Leu747Phe) c.2323C>T (p.Leu775Phe) c.2254C>T (p.Leu752Phe) c.1237C>T (p.Leu413Phe)
12	g.55693272G>C	CA385181750	ITGA7	c.2205C>G (n.2205C>G) c.1252C>G n.1996C>G c.2107C>G (p.Leu703Val) c.2593C>G (p.Leu865Val) c.2292C>G (n.2292C>G) n.687C>G c.1065C>G (n.1065C>G) c.1394C>G c.2581C>G (p.Leu861Val) c.2563C>G (p.Leu855Val) c.2302C>G (p.Leu768Val) c.646C>G c.2713C>G (p.Leu905Val) c.2695C>G (p.Leu899Val) c.2374C>G (p.Leu792Val) c.2242C>G (p.Leu748Val) c.2239C>G (p.Leu747Val) c.2323C>G (p.Leu775Val) c.2254C>G (p.Leu752Val) c.1237C>G (p.Leu413Val)
12	g.55693272G>T	CA385181751	ITGA7	c.2205C>A (n.2205C>A) c.1252C>A n.1996C>A c.2107C>A (p.Leu703Ile) c.2593C>A (p.Leu865Ile) c.2292C>A (n.2292C>A) n.687C>A c.1065C>A (n.1065C>A) c.1394C>A c.2581C>A (p.Leu861Ile) c.2563C>A (p.Leu855Ile) c.2302C>A (p.Leu768Ile) c.646C>A c.2713C>A (p.Leu905Ile) c.2695C>A (p.Leu899Ile) c.2374C>A (p.Leu792Ile) c.2242C>A (p.Leu748Ile) c.2239C>A (p.Leu747Ile) c.2323C>A (p.Leu775Ile) c.2254C>A (p.Leu752Ile) c.1237C>A (p.Leu413Ile)
12	g.55693273G>A	CA6615527	ITGA7	c.2204C>T (n.2204C>T) c.1251C>T n.1995C>T c.2106C>T (p.Phe702=) c.2592C>T (p.Phe864=) c.2291C>T (n.2291C>T) n.686C>T c.1064C>T (n.1064C>T) c.1393C>T c.2580C>T (p.Phe860=) c.2562C>T (p.Phe854=) c.2301C>T (p.Phe767=) c.645C>T c.2712C>T (p.Phe904=) c.2694C>T (p.Phe898=) c.2373C>T (p.Phe791=) c.2241C>T (p.Phe747=) c.2238C>T (p.Phe746=) c.2322C>T (p.Phe774=) c.2253C>T (p.Phe751=) c.1236C>T (p.Phe412=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.55693273G>C	CA6615528	ITGA7	c.2204C>G (n.2204C>G) c.1251C>G n.1995C>G c.2106C>G (p.Phe702Leu) c.2592C>G (p.Phe864Leu) c.2291C>G (n.2291C>G) n.686C>G c.1064C>G (n.1064C>G) c.1393C>G c.2580C>G (p.Phe860Leu) c.2562C>G (p.Phe854Leu) c.2301C>G (p.Phe767Leu) c.645C>G c.2712C>G (p.Phe904Leu) c.2694C>G (p.Phe898Leu) c.2373C>G (p.Phe791Leu) c.2241C>G (p.Phe747Leu) c.2238C>G (p.Phe746Leu) c.2322C>G (p.Phe774Leu) c.2253C>G (p.Phe751Leu) c.1236C>G (p.Phe412Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.55693273G=	CA2038035990	ITGA7	c.2204C= (n.2204C=) c.1251C= n.1995C= c.2106C= (p.Phe702=) c.2592C= (p.Phe864=) c.2291C= (n.2291C=) n.686C= c.1064C= (n.1064C=) c.1393C= c.2580C= (p.Phe860=) c.2562C= (p.Phe854=) c.2301C= (p.Phe767=) c.645C= c.2712C= (p.Phe904=) c.2694C= (p.Phe898=) c.2373C= (p.Phe791=) c.2241C= (p.Phe747=) c.2238C= (p.Phe746=) c.2322C= (p.Phe774=) c.2253C= (p.Phe751=) c.1236C= (p.Phe412=)
12	g.55693273G>T	CA385181752	ITGA7	c.2204C>A (n.2204C>A) c.1251C>A n.1995C>A c.2106C>A (p.Phe702Leu) c.2592C>A (p.Phe864Leu) c.2291C>A (n.2291C>A) n.686C>A c.1064C>A (n.1064C>A) c.1393C>A c.2580C>A (p.Phe860Leu) c.2562C>A (p.Phe854Leu) c.2301C>A (p.Phe767Leu) c.645C>A c.2712C>A (p.Phe904Leu) c.2694C>A (p.Phe898Leu) c.2373C>A (p.Phe791Leu) c.2241C>A (p.Phe747Leu) c.2238C>A (p.Phe746Leu) c.2322C>A (p.Phe774Leu) c.2253C>A (p.Phe751Leu) c.1236C>A (p.Phe412Leu)	COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched