|
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.1772A>C (p.Asp591Ala)
|
rs778608263
|
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.2944G>A (p.Val982Met)
|
rs78657866
|
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.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.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
|
|
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.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.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.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.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+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.189-7T>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.1949C>T (p.Thr650Met)
|
|
|
|
NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)
|
|
|
|
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.2172G>A (p.Met724Ile)
|
rs2143447323
|
|
|
NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)
|
|
|
|
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.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.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.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.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
|
|
|