TABLE 2

Allele distribution sorted by allele frequency in the overall CanCOLD cohort and by recruitment sites sorted by geographic location from west to east

AlleleCanCOLDVancouverCalgarySaskatoonTorontoKingstonOttawaMontrealQuebecHalifax
M11246 (45.84)391 (48.39)119 (50)83 (45.6)56 (43.75)84 (42.86)95 (46.57)255 (45.05)63 (38.41)100 (43.1)
M1(ala)475 (17.48)134 (16.58)43 (18.07)34 (18.68)19 (14.84)31 (15.82)37 (18.14)90 (15.9)30 (18.29)57 (24.57)
M2396 (14.57)114 (14.11)36 (15.13)22 (12.09)26 (20.31)33 (16.84)25 (12.25)88 (15.55)28 (17.07)24 (10.34)
M3246 (9.05)79 (9.78)18 (7.56)14 (7.69)11 (8.59)18 (9.18)19 (9.31)50 (8.83)15 (9.15)22 (9.48)
S#154 (5.67)29 (3.59)12 (5.04)7 (3.85)5 (3.91)14 (7.14)10 (4.9)53 (9.36)16 (9.76)8 (3.45)
M3(Riedenburg)48 (1.77)12 (1.49)2 (0.84)4 (2.2)5 (3.91)4 (2.04)5 (2.45)6 (1.06)5 (3.05)5 (2.16)
Z#46 (1.69)20 (2.48)1 (0.42)5 (2.75)1 (0.78)3 (1.53)3 (1.47)6 (1.06)1 (0.61)6 (2.59)
M436 (1.32)6 (0.74)3 (1.26)7 (3.85)2 (1.56)6 (3.06)2 (0.98)4 (0.71)1 (0.61)5 (2.16)
M1(ala).Ala284Ser11 (0.4)3 (0.37)0 (0)1 (0.55)0 (0)1 (0.51)4 (1.96)1 (0.18)0 (0)1 (0.43)
M2(Obernburg)8 (0.29)1 (0.12)0 (0)1 (0.55)0 (0)0 (0)0 (0)4 (0.71)2 (1.22)0 (0)
F#6 (0.22)3 (0.37)2 (0.84)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
I#6 (0.22)2 (0.25)1 (0.42)0 (0)0 (0)0 (0)1 (0.49)1 (0.18)1 (0.61)0 (0)
M1.Asp256Asp5 (0.18)3 (0.37)0 (0)0 (0)1 (0.78)0 (0)1 (0.49)0 (0)0 (0)0 (0)
M1(ala).Leu-10Leu3 (0.11)1 (0.12)0 (0)0 (0)1 (0.78)0 (0)0 (0)1 (0.18)0 (0)0 (0)
V3 (0.11)0 (0)0 (0)1 (0.55)0 (0)1 (0.51)0 (0)1 (0.18)0 (0)0 (0)
M1(ala).Leu-2Gln2 (0.07)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)2 (0.86)
M1.Phe33Phe2 (0.07)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.49)0 (0)1 (0.61)0 (0)
M6(Passau)2 (0.07)1 (0.12)0 (0)0 (0)0 (0)1 (0.51)0 (0)0 (0)0 (0)0 (0)
P(Lowell) #2 (0.07)1 (0.12)0 (0)0 (0)0 (0)0 (0)1 (0.49)0 (0)0 (0)0 (0)
M(Procida) #1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M(Wurzburg) #1 (0.04)0 (0)0 (0)0 (0)1 (0.78)0 (0)0 (0)0 (0)0 (0)0 (0)
M1(ala).Ala332Ala1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
M1(ala).Asp256Asp1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
M1(ala).Lys274Asn1 (0.04)0 (0)0 (0)1 (0.55)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M1(ala).Pro88Leu1 (0.04)0 (0)1 (0.42)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M1(Cadiz)1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.43)
M1.Ala332Ala1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.61)0 (0)
M1.Ala58Thr1 (0.04)0 (0)0 (0)1 (0.55)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M1.Leu318Phe1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
M1.Lys222Lys1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M1.Thr113Thr1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
M1.Val302Ile1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M3.Gly167Gly1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M3.Pro255Thr#1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
M3.Ser-19Ser1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
R1 (0.04)0 (0)0 (0)1 (0.55)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
R.Ile340Val1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
S(Donosti) #1 (0.04)1 (0.12)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)
S(Munich) #1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.43)
S.Arg101Cys#1 (0.04)0 (0)0 (0)0 (0)0 (0)0 (0)0 (0)1 (0.18)0 (0)0 (0)
Total2718 (100)808 (100)238 (100)182 (100)128 (100)196 (100)204 (100)566 (100)164 (100)232 (100)
Normal allele2498 (91.91)750 (92.82)222 (93.28)170 (93.41)121 (94.53)179 (91.33)189 (92.65)504 (89.05)146 (89.02)217 (93.53)
Deficient allele220 (8.09)58 (7.18)16 (6.72)12 (6.59)7 (5.47)17 (8.67)15 (7.35)62 (10.95)18 (10.98)15 (6.47)

Data are presented as allele count (% in site). #: known deficient alleles or considered deleterious by all pathogenicity scores.