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Hong et al. J Transl Genet Genom 2018;2:8. I https://doi.org/10.20517/jtgg.2018.06 Page 5 of 9

Table 2. Summary of ITGB2 mutations in LAD-I patients
No. Incidence Location Mutation Mutation type LAD-I phenotype*
1 [11] F Exon 2 c.-721_58+51del833 Deletion LAD-I 0
2 [12] F Exon 2 c.2T>A (p.Met1Lys) Missense LAD-I -
3 [13] - Exon 2 c.49delC Deletion LAD-I 0
4 [14] F Intron2 c.59-10C>A Splice LAD-I 0
5 [15] - Exon 2 c.66-67delTC Deletion LAD-I 0
6 [13] - Exon 3 c.77dupC (p.Lys27GlufsX32) Insertion LAD-I 0
7 [16] F Exon 3 c.79A>T(p.Lys27X) Nonsense LAD-I 0
8 [13] - Exon 3 c.106T>A (p.Cys36Ser) Missense LAD-I 0
9 [13] - Exon 3 c.120delG (p.Gly42AlafsX7) Deletion LAD-I 0
10 [13] - Exon 3 c.130A>C (p.Thr44Pro) Missense LAD-I 0
11 [13] - Exon 4 c.184T>C (p.Cys62Arg) Missense -
12 [13] - Exon 4 c.186C>A(p.Cys62X) Nonsense -
13 [17] S Exon 4 c.190_200delGGCCCGGCTG Deletion LAD-I 0
14 [11] F Exon 4 c.199C>T(p.Gln67X) Nonsense LAD-I 0
15 [13] - Exon 4 c.268delG (p.Asp90ThrfsX13) Deletion LAD-I -
16 [18] S Exon 4 c.295G>A*(p.Asp77Asn) Missense -
17 [19] - Exon 4 c.314T>C ( p.Leu105Pro) Missense LAD-I -
18 [20] F Intron 4 c.328+1G>A Splice LAD-I 0
19 [21] S Intron 4&Exon5 c.329-37_461del169 Deletion LAD-I 0
20 [22] S Intron 4 c.329-6C>A Splice LAD-I 0
21 [22] S Exon 4 c.382G>T (p.Asp128Tyr) Missense LAD-I 0/-
22 [23] S Exon 4 c.382G>A (p.Asp128Asn) Missense LAD-I 0
23 [24] S Exon 5 c.392A>C (p.Tyr131Ser) Missense LAD-I 0
24 [25] F Exon 5 c.400G>A (p.Asp134Asn) Missense -
25 [26] S Exon 5 c.412T>C (p.Ser138Pro) Missense LAD-I +
26 [27] F Exon 5 c.446T>C(p.Leu149Pro) Missense LAD-I -
27 [13] - Exon 5 c.449G>A (p.Gly150Asp) Missense LAD-I +
28 [11] F Intron 5 c.500-12T>G Splice LAD-I 0
29 [27] - Exon 5 c.505G>A(p.Gly169Arg) Missense LAD-I 0
30 [27] - Exon 6 c.517T>C(p.Leu149Pro) Missense -
31 [13] - Exon 6 c.520A>G(p.Lys174Glu) Missense LAD-I 0
32 [28] - Exon 6 c.533C>T (p.Pro178Leu) Missense LAD-I 0
33 [25] F Exon 6 c.562C>T (p.Arg188X) Nonsense -
34 [29] - Exon 6 c.576dupC (p.Asn193Glnfs) Insertion -
35 [27] S Exon 6 c.577G>A (p.G169R) Missense LAD-I 0
36 [30] - Exon 6 c.587A>C (p.Lys196Thr) Missense -
37 [31] F Exon 6 c.602delC(p.Pro201ArgfsX8) Deletion LAD-I 0
38 [13] - Exon 6 c.614_615insA(p.His206AlafsX59) Insertion LAD-I 0
39 [32] F Exon 6 c.605C>T (p.pro178Leu) Missense
40 [33] F Exon 6 c.691G>C(p.Asp231His) Missense LAD-I +
41 [29] - Exon 6 c.706G>A(p.Gly236Arg) Missense LAD-I 0
42 [13] - Exon 6 c.712G>A(p.Asp238Asn) Missense -
43 [34] S Intron 6 c.742-14C>A Splice LAD-I 0
44 [22] S Exon 6 c.715G>A(p.Ala239Thr) Missense LAD-I 0
45 [11] F Exon 7 c.754T>C (p.Trp252Arg) Missense LAD-I 0
46 [13] - Exon 7 c.755G>A(p.Trp252X) Nonsense LAD-I 0
47 [13] - Exon 7 c.769C>T(p.Arg257Trp) Missense LAD-I 0/-
48 [35] S Exon 7 c.809C>T (p.Ala270Val) Missense LAD-I 0/-
49 [26] S Exon 7 c.817G>A (p.Gly273Arg) Missense LAD-I 0
50 [22] S Exon 7 c.843delC(p.Asn282Thrfs) Deletion LAD-I 0
51 [13] - Exon 7 c.846C>A (p.Asn282Lys) Missense LAD-I +
52 [36] S Exon 7 c.850G>A (p.Gly284Ser) Missense LAD-I 0
53 [15] - Intron 7 c.897+1G>A Splice LAD-I 0
54 [29] S Intron 7 c.891+1G>T Splice LAD-I 0
55 [29] S Intron 7 c.891+1G>A Splice LAD-I 0
56 [13] S Exon 8 c.905C>T (p.Pro302Leu) Missense LAD-I 0
57 [37] F Exon 8 c.899A>T (p.Asp300Val) Missense LAD-I 0
58 [13] - Exon 9 c.995_1004del10 Deletion -
59 [35] - Exon 9 c.1021G>C(p.Ala341Pro) Missense LAD-I 0/-
60 [34] - Exon 9 c.1052A>G(p.Asn351Ser) Missense -
61 [13] - Exon 9 c.1057_1059delinsA Del/ins LAD-I 0
62 [29] - Exon 8 c.1030G>T (p.Glu344X) Nonsense
63 [38] F Exon 8 c.1037_1044delinsT Del/ins LAD-I 0
64 [13] - Intron 9 c.1083+5G>C Splice LAD-I 0
65 [39] F Intron 9 c.1083+3G>C Splice LAD-I 0
66 [22] S Exon 10 c.1143delC(p.Tyr382Thrfs) Deletion LAD-I -
67 [13] - Exon 10 c.1225?-1412+?del Deletion LAD-I 0
68 [40] F Exon 11 c.1256_1257delAG Deletion LAD-I -
69 [13] - Exon 11 c.1358G>A(p.Ser453Asn) Missense -
70 [13] - Exon 11 c.1388_1390delGCTinsCA Del/ins -
71 [24] S Exon 11 c.1413?_1877+?del2114 Deletion LAD-I 0