ClinVar Miner

List of variants in gene ITGA2B studied for Glanzmann thrombasthenia

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Gene type:
ClinVar version:
Total variants: 599
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=) rs5910 0.38791
NM_000419.5(ITGA2B):c.2188-7C>G rs850730 0.38774
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329 0.00571
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872 0.00531
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met) rs74988902 0.00239
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00026
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp) rs142445733 0.00021
NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala) rs77120952 0.00019
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg) rs146382550 0.00018
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr) rs199641871 0.00014
NM_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln) rs139770734 0.00011
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile) rs142111372 0.00009
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln) rs767338191 0.00006
NM_000419.5(ITGA2B):c.1413C>T (p.Tyr471=) rs78218617 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000419.5(ITGA2B):c.*120T>C rs41385144 0.00005
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.1820C>T (p.Thr607Met) rs539187844 0.00004
NM_000419.5(ITGA2B):c.1958C>T (p.Pro653Leu) rs375936260 0.00004
NM_000419.5(ITGA2B):c.1965A>C (p.Leu655=) rs748671094 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) rs769405222 0.00003
NM_000419.5(ITGA2B):c.1739T>C (p.Met580Thr) rs768008625 0.00003
NM_000419.5(ITGA2B):c.1768C>T (p.Arg590Trp) rs373204738 0.00003
NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser) rs780567683 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys) rs779592785 0.00003
NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln) rs747930676 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.574+10A>G rs771984157 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000419.5(ITGA2B):c.690A>C (p.Pro230=) rs776840984 0.00002
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.1217C>T (p.Ala406Val) rs1204070474 0.00001
NM_000419.5(ITGA2B):c.1229C>G (p.Pro410Arg) rs773649547 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met) rs112836157 0.00001
NM_000419.5(ITGA2B):c.1606A>C (p.Asn536His) rs779647771 0.00001
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) rs1261397461 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.1753-3T>A rs746932044 0.00001
NM_000419.5(ITGA2B):c.1762G>C (p.Asp588His) rs773196676 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.188+7C>T rs774338537 0.00001
NM_000419.5(ITGA2B):c.1888G>A (p.Val630Ile) rs1271568680 0.00001
NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) rs75028796 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2728-15G>T rs540296465 0.00001
NM_000419.5(ITGA2B):c.2728-19T>C rs1350341374 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) rs757116551 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His) rs148327798 0.00001
NM_000419.5(ITGA2B):c.574+1G>A rs1291613591 0.00001
NM_000419.5(ITGA2B):c.624+5G>A rs373730428 0.00001
NM_000419.5(ITGA2B):c.625-7C>T rs747504493 0.00001
NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) rs78321762 0.00001
NC_000017.10:g.(?_42454357)_(42456098_?)del
NM_000419.4(ITGA2B):c.[1787T>C];[439C>G]
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.*165T>C rs2143416246
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1022C>T (p.Ala341Val) rs2048616805
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro) rs1476448476
NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter) rs1032879686
NM_000419.5(ITGA2B):c.1071dup (p.Arg358fs)
NM_000419.5(ITGA2B):c.1072C>T (p.Arg358Cys) rs1026539797
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) rs2048615633
NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)
NM_000419.5(ITGA2B):c.10G>A (p.Ala4Thr)
NM_000419.5(ITGA2B):c.1105C>G (p.His369Asp)
NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=)
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1139G>T (p.Gly380Val) rs766006685
NM_000419.5(ITGA2B):c.113del (p.Gln38fs)
NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile) rs2048614738
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
NM_000419.5(ITGA2B):c.1162G>A (p.Gly388Ser)
NM_000419.5(ITGA2B):c.1184G>T (p.Gly395Val)
NM_000419.5(ITGA2B):c.1192G>T (p.Asp398Tyr) rs746322312
NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln)
NM_000419.5(ITGA2B):c.1198G>A (p.Asp400Asn)
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys) rs2048613694
NM_000419.5(ITGA2B):c.1210+19C>T
NM_000419.5(ITGA2B):c.1210+5G>A rs2143475577
NM_000419.5(ITGA2B):c.1210+9del
NM_000419.5(ITGA2B):c.1210G>T (p.Asp404Tyr)
NM_000419.5(ITGA2B):c.1211-10C>T
NM_000419.5(ITGA2B):c.1211-1G>C rs1598380380
NM_000419.5(ITGA2B):c.1211-78A>G
NM_000419.5(ITGA2B):c.1211-9T>G
NM_000419.5(ITGA2B):c.1214T>G (p.Ile405Ser)
NM_000419.5(ITGA2B):c.1220T>G (p.Val407Gly)
NM_000419.5(ITGA2B):c.1230del (p.Tyr411fs)
NM_000419.5(ITGA2B):c.1232A>G (p.Tyr411Cys)
NM_000419.5(ITGA2B):c.1232dup (p.Tyr411Ter) rs2143465421
NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter) rs779910477
NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1245T>G (p.Ser415Arg)
NM_000419.5(ITGA2B):c.1252G>T (p.Gly418Cys)
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs) rs2143465205
NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala) rs2048592296
NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)
NM_000419.5(ITGA2B):c.1271T>G (p.Leu424Arg)
NM_000419.5(ITGA2B):c.1297C>T (p.Arg433Cys)
NM_000419.5(ITGA2B):c.1298G>A (p.Arg433His)
NM_000419.5(ITGA2B):c.1317C>A (p.Asp439Glu)
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val) rs2048678209
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1353C>T (p.Ser451=)
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.1377T>A (p.Asp459Glu)
NM_000419.5(ITGA2B):c.1378G>C (p.Asp460His)
NM_000419.5(ITGA2B):c.1384G>A (p.Gly462Arg)
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1392A>G (p.Pro464=)
NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) rs78218617
NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=)
NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)
NM_000419.5(ITGA2B):c.1424_1427dup (p.Ala477fs)
NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)
NM_000419.5(ITGA2B):c.1439+20G>A
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.1440-20C>G
NM_000419.5(ITGA2B):c.1447C>T (p.Pro483Ser)
NM_000419.5(ITGA2B):c.1460_1461insAGGT (p.Ser488fs) rs2143461728
NM_000419.5(ITGA2B):c.146A>T (p.Gln49Leu)
NM_000419.5(ITGA2B):c.1520C>G (p.Pro507Arg) rs2143461368
NM_000419.5(ITGA2B):c.1524_1533del (p.Gln508fs)
NM_000419.5(ITGA2B):c.1544+18A>G
NM_000419.5(ITGA2B):c.1544+1G>A rs879255509
NM_000419.5(ITGA2B):c.1545-17C>A
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1545-1del rs2048583710
NM_000419.5(ITGA2B):c.1551C>A (p.Asn517Lys)
NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)
NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)
NM_000419.5(ITGA2B):c.1558A>T (p.Met520Leu)
NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)
NM_000419.5(ITGA2B):c.1574C>T (p.Thr525Ile)
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)
NM_000419.5(ITGA2B):c.1599_1600del (p.Ser534fs)
NM_000419.5(ITGA2B):c.1600+11T>C
NM_000419.5(ITGA2B):c.1600+15G>T
NM_000419.5(ITGA2B):c.1600+16G>T rs199614885
NM_000419.5(ITGA2B):c.1600+1G>A
NM_000419.5(ITGA2B):c.1601-14G>C
NM_000419.5(ITGA2B):c.1608del (p.Asn536fs) rs2143459811
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1616T>G (p.Leu539Arg) rs2048581782
NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis)
NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) rs1344768030
NM_000419.5(ITGA2B):c.1618del (p.Gln540fs) rs2048581747
NM_000419.5(ITGA2B):c.1620G>C (p.Gln540His) rs2048581681
NM_000419.5(ITGA2B):c.1622T>A (p.Leu541Gln) rs1598379635
NM_000419.5(ITGA2B):c.1627C>A (p.Arg543=)
NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)
NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=)
NM_000419.5(ITGA2B):c.1649G>A (p.Arg550Gln)
NM_000419.5(ITGA2B):c.1654del (p.Val552fs)
NM_000419.5(ITGA2B):c.1666G>T (p.Gly556Cys)
NM_000419.5(ITGA2B):c.1670C>G (p.Ser557Cys)
NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) rs74602141
NM_000419.5(ITGA2B):c.1707C>T (p.Gly569=)
NM_000419.5(ITGA2B):c.1716C>T (p.His572=)
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
NM_000419.5(ITGA2B):c.1729C>T (p.His577Tyr)
NM_000419.5(ITGA2B):c.1742C>A (p.Ala581Asp) rs2143458780
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.1751G>A (p.Arg584Gln)
NM_000419.5(ITGA2B):c.1752+11G>A
NM_000419.5(ITGA2B):c.1752+4C>T
NM_000419.5(ITGA2B):c.1753-1G>A rs2048578129
NM_000419.5(ITGA2B):c.1753-8del
NM_000419.5(ITGA2B):c.1756G>A (p.Glu586Lys)
NM_000419.5(ITGA2B):c.175del (p.Asp59fs)
NM_000419.5(ITGA2B):c.1770G>A (p.Arg590=)
NM_000419.5(ITGA2B):c.1771dup (p.Asp591fs)
NM_000419.5(ITGA2B):c.1793T>C (p.Leu598Pro)
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.1815G>C (p.Pro605=)
NM_000419.5(ITGA2B):c.1833G>A (p.Met611Ile)
NM_000419.5(ITGA2B):c.1878+17A>G
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.1879-2A>G rs77229108
NM_000419.5(ITGA2B):c.1879-31_1879-14dup
NM_000419.5(ITGA2B):c.1879-5del
NM_000419.5(ITGA2B):c.1879-8C>T
NM_000419.5(ITGA2B):c.188+12G>A
NM_000419.5(ITGA2B):c.188+17G>A
NM_000419.5(ITGA2B):c.188+18T>C
NM_000419.5(ITGA2B):c.188+5G>T rs1598385156
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8G>C
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys) rs767688038
NM_000419.5(ITGA2B):c.189-11T>G
NM_000419.5(ITGA2B):c.189-1G>C
NM_000419.5(ITGA2B):c.189-319_236del
NM_000419.5(ITGA2B):c.189-7T>A
NM_000419.5(ITGA2B):c.1899del (p.Cys633fs)
NM_000419.5(ITGA2B):c.1912G>A (p.Val638Ile)
NM_000419.5(ITGA2B):c.1919_1920del (p.Val640fs) rs2143452404
NM_000419.5(ITGA2B):c.1922C>T (p.Pro641Leu)
NM_000419.5(ITGA2B):c.1923C>T (p.Pro641=)
NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=)
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.1946+2T>G
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.1947-12_1947-11del
NM_000419.5(ITGA2B):c.1947-2A>G
NM_000419.5(ITGA2B):c.1947-9T>C
NM_000419.5(ITGA2B):c.1949C>T (p.Thr650Met)
NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)
NM_000419.5(ITGA2B):c.1973del (p.Ala658fs) rs1598378490
NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter) rs1472992102
NM_000419.5(ITGA2B):c.1999G>A (p.Asp667Asn)
NM_000419.5(ITGA2B):c.1999dup (p.Asp667fs)
NM_000419.5(ITGA2B):c.199G>A (p.Val67Met)
NM_000419.5(ITGA2B):c.2001C>T (p.Asp667=)
NM_000419.5(ITGA2B):c.2002G>A (p.Ala668Thr)
NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2015del (p.Gly672fs) rs2143451028
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp)
NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys) rs2143450843
NM_000419.5(ITGA2B):c.202G>A (p.Val68Met) rs2048647163
NM_000419.5(ITGA2B):c.2033C>T (p.Ala678Val)
NM_000419.5(ITGA2B):c.2044G>A (p.Val682Met)
NM_000419.5(ITGA2B):c.2045T>A (p.Val682Glu)
NM_000419.5(ITGA2B):c.2051T>G (p.Leu684Arg) rs2143450670
NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)
NM_000419.5(ITGA2B):c.2053C>A (p.Pro685Thr)
NM_000419.5(ITGA2B):c.2061C>T (p.Gly687=)
NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val) rs1245816431
NM_000419.5(ITGA2B):c.2064C>T (p.Ala688=)
NM_000419.5(ITGA2B):c.2077G>A (p.Ala693Thr)
NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)
NM_000419.5(ITGA2B):c.2094+10C>A
NM_000419.5(ITGA2B):c.2094+2T>C rs1555613692
NM_000419.5(ITGA2B):c.2094+7C>T
NM_000419.5(ITGA2B):c.2095-19T>A rs2143447856
NM_000419.5(ITGA2B):c.2095-8T>C
NM_000419.5(ITGA2B):c.209C>T (p.Ala70Val)
NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)
NM_000419.5(ITGA2B):c.2133T>G (p.Asn711Lys)
NM_000419.5(ITGA2B):c.2139C>T (p.Thr713=) rs1598378000
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) rs2048557642
NM_000419.5(ITGA2B):c.2159T>C (p.Leu720Pro) rs2048557572
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) rs2143447323
NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.2187+20G>C
NM_000419.5(ITGA2B):c.2187+6G>T
NM_000419.5(ITGA2B):c.2188-7C>T
NM_000419.5(ITGA2B):c.2199G>A (p.Ala733=)
NM_000419.5(ITGA2B):c.2201T>A (p.Met734Lys)
NM_000419.5(ITGA2B):c.2206G>T (p.Val736Leu)
NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) rs2048550784
NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)
NM_000419.5(ITGA2B):c.224del (p.Gly75fs) rs1567906131
NM_000419.5(ITGA2B):c.2254C>G (p.Leu752Val)
NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro) rs763762304
NM_000419.5(ITGA2B):c.2267+1G>T rs2048550327
NM_000419.5(ITGA2B):c.2268-9C>G
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
NM_000419.5(ITGA2B):c.2291_2292delinsAA (p.Ser764Lys)
NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn) rs886053010
NM_000419.5(ITGA2B):c.2311G>A (p.Val771Met)
NM_000419.5(ITGA2B):c.2311G>T (p.Val771Leu) rs368953599
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2321G>A (p.Arg774Gln)
NM_000419.5(ITGA2B):c.2326_2331dup (p.Glu776_Ala777dup) rs2143440798
NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp) rs2048543938
NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)
NM_000419.5(ITGA2B):c.2338G>A (p.Glu780Lys)
NM_000419.5(ITGA2B):c.2338del (p.Glu780fs) rs2143440696
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)
NM_000419.5(ITGA2B):c.2348+14G>A
NM_000419.5(ITGA2B):c.2348+17G>T
NM_000419.5(ITGA2B):c.2348+5G>C rs776442328
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)
NM_000419.5(ITGA2B):c.2374del (p.Val792fs)
NM_000419.5(ITGA2B):c.2377G>A (p.Ala793Thr)
NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)
NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)
NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)
NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs) rs2048646560
NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs)
NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) rs2143439415
NM_000419.5(ITGA2B):c.2426C>T (p.Pro809Leu)
NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn) rs1196551352
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2444_2445del (p.Thr814_Tyr815insTer) rs2143439241
NM_000419.5(ITGA2B):c.2448+16G>A
NM_000419.5(ITGA2B):c.2448+17C>T
NM_000419.5(ITGA2B):c.2448+4T>C
NM_000419.5(ITGA2B):c.2449-1G>C
NM_000419.5(ITGA2B):c.2459del (p.Asn820fs) rs2143438540
NM_000419.5(ITGA2B):c.245dup (p.Gly83fs) rs2143491610
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu) rs1166506747
NM_000419.5(ITGA2B):c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG (p.Val825fs)
NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs) rs2048539289
NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs)
NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val)
NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg)
NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.2510A>G (p.Gln837Arg)
NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)
NM_000419.5(ITGA2B):c.2540T>C (p.Leu847Pro)
NM_000419.5(ITGA2B):c.2555del (p.Gln852fs)
NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His) rs2048538187
NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=)
NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)
NM_000419.5(ITGA2B):c.2568G>T (p.Gln856His)
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg) rs1598376647
NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe) rs1242785708
NM_000419.5(ITGA2B):c.2575C>T (p.Pro859Ser)
NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) rs2143437407
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)
NM_000419.5(ITGA2B):c.2592C>A (p.Asn864Lys)
NM_000419.5(ITGA2B):c.2602-17C>G
NM_000419.5(ITGA2B):c.2602-2A>G rs2143436505
NM_000419.5(ITGA2B):c.2602-3C>A rs763330792
NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs) rs2048535976
NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=)
NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln)
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) rs200846140
NM_000419.5(ITGA2B):c.2673_2674dup (p.Ile892fs) rs2143435739
NM_000419.5(ITGA2B):c.2674del (p.Ile892fs)
NM_000419.5(ITGA2B):c.2685A>G (p.Pro895=)
NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)
NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)
NM_000419.5(ITGA2B):c.2702C>T (p.Ser901Leu) rs2048534441
NM_000419.5(ITGA2B):c.2725G>C (p.Val909Leu)
NM_000419.5(ITGA2B):c.2727+14C>G
NM_000419.5(ITGA2B):c.2727+19C>T
NM_000419.5(ITGA2B):c.2728-12G>T
NM_000419.5(ITGA2B):c.2728-16C>G
NM_000419.5(ITGA2B):c.2728-20C>T
NM_000419.5(ITGA2B):c.2741C>A (p.Ala914Glu)
NM_000419.5(ITGA2B):c.2742G>A (p.Ala914=)
NM_000419.5(ITGA2B):c.2747G>A (p.Cys916Tyr)
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val)
NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter) rs2143432066
NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)
NM_000419.5(ITGA2B):c.2794G>A (p.Ala932Thr)
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe) rs77458039
NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)
NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu)
NM_000419.5(ITGA2B):c.2841+13_2841+33del
NM_000419.5(ITGA2B):c.2841+1GTGGG[3]
NM_000419.5(ITGA2B):c.2842-1G>C
NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)
NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs) rs2048524745
NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln) rs2048524687
NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser)
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=) rs759462215
NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2898_2902dup (p.Tyr968fs) rs2143429307
NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs) rs2143429292
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) rs781644489
NM_000419.5(ITGA2B):c.291del (p.Ser98fs) rs2048645725
NM_000419.5(ITGA2B):c.2929_2930del (p.Glu979fs) rs2143428858
NM_000419.5(ITGA2B):c.2930G>A (p.Arg977Gln)
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2933G>T (p.Gly978Val)
NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)
NM_000419.5(ITGA2B):c.2943+11G>A
NM_000419.5(ITGA2B):c.2943+18G>A
NM_000419.5(ITGA2B):c.2943+3G>T
NM_000419.5(ITGA2B):c.2943+9G>A
NM_000419.5(ITGA2B):c.2944-17C>T
NM_000419.5(ITGA2B):c.2944-7C>T
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys) rs2048521744
NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter) rs2143427792
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln) rs368536313
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs) rs2048521407
NM_000419.5(ITGA2B):c.2975del (p.Glu992fs) rs1467071163
NM_000419.5(ITGA2B):c.2979G>A (p.Arg993=)
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)
NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)
NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs) rs1291802895
NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)
NM_000419.5(ITGA2B):c.3060+16C>T
NM_000419.5(ITGA2B):c.3060+17G>A
NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=) rs757268030
NM_000419.5(ITGA2B):c.3061-13C>T
NM_000419.5(ITGA2B):c.3061-1G>A
NM_000419.5(ITGA2B):c.3061-5C>T
NM_000419.5(ITGA2B):c.3061-6C>G
NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)
NM_000419.5(ITGA2B):c.3062T>C (p.Val1021Ala) rs2143417795
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala) rs2048505090
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln)
NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=) rs1393382106
NM_000419.5(ITGA2B):c.3091del (p.Leu1031fs)
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.30C>T (p.Ala10=)
NM_000419.5(ITGA2B):c.310+12G>A
NM_000419.5(ITGA2B):c.310+17G>A
NM_000419.5(ITGA2B):c.310+1G>A
NM_000419.5(ITGA2B):c.310+3_310+6del
NM_000419.5(ITGA2B):c.3101A>T (p.Asp1034Val)
NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?) rs2048504402
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.318G>C (p.Glu106Asp)
NM_000419.5(ITGA2B):c.322C>A (p.Arg108=) rs1598383383
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.351C>T (p.Thr117=)
NM_000419.5(ITGA2B):c.361C>T (p.Arg121Cys)
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=) rs2048643952
NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)
NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val) rs2143489510
NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys) rs2143489430
NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter) rs2143489377
NM_000419.5(ITGA2B):c.435C>A (p.Asn145Lys) rs1433566887
NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)
NM_000419.5(ITGA2B):c.444A>C (p.Glu148Asp)
NM_000419.5(ITGA2B):c.454G>A (p.Glu152Lys)
NM_000419.5(ITGA2B):c.460_462del (p.Glu154del) rs747956782
NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)
NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) rs1279297832
NM_000419.5(ITGA2B):c.480del (p.Cys161fs)
NM_000419.5(ITGA2B):c.483C>G (p.Cys161Trp)
NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)
NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)
NM_000419.5(ITGA2B):c.505G>A (p.Gly169Ser)
NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)
NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu) rs148327798
NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) rs79713558
NM_000419.5(ITGA2B):c.539del (p.Asn180fs)
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met) rs2048639927
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala) rs2048639767
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val) rs2048639566
NM_000419.5(ITGA2B):c.574+15C>T
NM_000419.5(ITGA2B):c.574+20T>C
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.574+5G>C rs1598383011
NM_000419.5(ITGA2B):c.575-10T>A
NM_000419.5(ITGA2B):c.575-1_575insGGACAA (p.Phe191_Ser192insArgThr)
NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
NM_000419.5(ITGA2B):c.599C>T (p.Ala200Val)
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser) rs2048635741
NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)
NM_000419.5(ITGA2B):c.617T>A (p.Val206Asp)
NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile) rs2143485911
NM_000419.5(ITGA2B):c.624+2C>A rs2048635467
NM_000419.5(ITGA2B):c.624+6T>C
NM_000419.5(ITGA2B):c.625-1G>A rs2143485431
NM_000419.5(ITGA2B):c.626C>T (p.Ala209Val) rs143284768
NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg) rs886053009
NM_000419.5(ITGA2B):c.637G>A (p.Val213Met)
NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg) rs137852911
NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val) rs2143485154
NM_000419.5(ITGA2B):c.655G>A (p.Gly219Ser)
NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys) rs1355838837
NM_000419.5(ITGA2B):c.666C>A (p.Phe222Leu)
NM_000419.5(ITGA2B):c.670+15G>T
NM_000419.5(ITGA2B):c.670+6T>G
NM_000419.5(ITGA2B):c.671-10C>G
NM_000419.5(ITGA2B):c.671-1G>A rs2048632400
NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) rs2048632227
NM_000419.5(ITGA2B):c.685G>A (p.Ala229Thr)
NM_000419.5(ITGA2B):c.68C>A (p.Pro23His) rs201184269
NM_000419.5(ITGA2B):c.693dup (p.Ala232fs) rs2048632055
NM_000419.5(ITGA2B):c.727del (p.Leu243fs) rs2143484108
NM_000419.5(ITGA2B):c.730T>C (p.Leu244=)
NM_000419.5(ITGA2B):c.786C>T (p.Phe262=)
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) rs483352692
NM_000419.5(ITGA2B):c.799+20C>T
NM_000419.5(ITGA2B):c.799+2T>C rs1194700242
NM_000419.5(ITGA2B):c.800-2A>G rs2143481938
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala) rs2048627164
NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=)
NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly) rs2143481840
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.819C>T (p.Gly273=)
NM_000419.5(ITGA2B):c.822G>C (p.Glu274Asp)
NM_000419.5(ITGA2B):c.832del (p.Asp278fs)
NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile) rs2143481657
NM_000419.5(ITGA2B):c.855dup (p.Val286fs)
NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp) rs2143480810
NM_000419.5(ITGA2B):c.859G>C (p.Gly287Arg)
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.887G>A (p.Gly296Glu)
NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr)
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.891+14C>G
NM_000419.5(ITGA2B):c.891+16A>C
NM_000419.5(ITGA2B):c.892-13G>A
NM_000419.5(ITGA2B):c.892-20C>T
NM_000419.5(ITGA2B):c.892-5T>A
NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter) rs1131692013
NM_000419.5(ITGA2B):c.902T>C (p.Leu301Ser)
NM_000419.5(ITGA2B):c.91G>A (p.Ala31Thr)
NM_000419.5(ITGA2B):c.91del (p.Ala31fs) rs2048678902
NM_000419.5(ITGA2B):c.941A>G (p.Glu314Gly)
NM_000419.5(ITGA2B):c.945+10A>G rs886053008
NM_000419.5(ITGA2B):c.945+6G>A
NM_000419.5(ITGA2B):c.946-12C>T
NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)
NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter) rs2143478260
NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp) rs2048619921
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val) rs2048619898
NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr) rs1376804511
NM_000419.5(ITGA2B):c.966T>C (p.His322=)
NM_000419.5(ITGA2B):c.970G>A (p.Val324Met)
NM_000419.5(ITGA2B):c.976G>A (p.Val326Ile)
NM_000419.5(ITGA2B):c.978C>T (p.Val326=)
NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) rs2048619428
NM_000419.5(ITGA2B):c.998+15G>T
NM_000419.5(ITGA2B):c.998+19C>T
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778
NM_000419.5(ITGA2B):c.998+8G>C

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