Table 1 Rare and null alleles with their clinical characteristics by order of frequency

All combinations

818

49.3 (19.8)

281 (34.4)

382 (46.7)

155 (18.9)

373 (45.6)

67.6 (28.0)

40.7 (49.8)

77.7 (27.3)

M/M _malton

235

45.9 (20.8)

58 (24.7%)

127 (54.0%)

50 (21.3%)

110 (46.8)

78.2 (14.9)

88 (37.4)

80.7 (27.5)

M/I

126

54.8 (19.2)

51 (40.5%)

52 (41.3%)

23 (18.3%)

29 (23.0)

95.5 (28.4)

59 (46.8)

72.9 (25.4)

M/P _lowell

105

47.2 (19.8)

35 (33.3%)

47 (44.8%)

23 (21.9%)

28 (26.7)

95.8 (28.2)

46 (43.8)

79.9 (20.1)

S/M _malton

60

50.1 (21.1)

23 (38.3%)

26 (43.3%)

11 (18.3%)

110 (46.8)

48.1 (13.9)

41 (68.3)

80.2 (26.9)

S/I

36

48.1 (17.4)

16 (44.4%)

14 (38.9%)

6 (16.7%)

19 (52.8)

76.2 (24.1)

17 (47.2)

75.7 (30.0)

Z/M _malton

30

51.2 (13.8)

14 (46.7%)

10 (33.3%)

6 (20.0%)

18 (60.0)

21.3 (14.8)

16 (53.3)

52.0 (30.9)

M/M _heerlen

26

49.8 (20.6)

7 (26.9%)

15 (57.7%)

4 (15.4%)

14 (53.8)

71.5 (10.2)

16 (61.5)

77.9 (24.6)

M/F

23

52.9 (22.2)

8 (34.8%)

11 (47.8%)

4 (17.4%)

3 (13.0)

113.3 (14.9)

8 (34.8)

71.7 (30.0)

M/M _procida

21

49.1 (19.5)

6 (28.6%)

7 (33.3%)

8 (38.1%)

12 (57.1)

72.5 (10.5)

16 (76.2)

81.7 (21.7)

M/Q0 _mattawa

21

52.6 (19.8)

8 (38.1%)

11 (52.4%)

2 (9.5%)

11 (52.4)

63.4 (12.4)

13 (61.9)

83.2 (21.6)

S/P _lowell

18

40.5 (16.4)

4 (22.2%)

10 (55.6%)

4 (22.2%)

14 (77.8)

77.1 (21.1)

11 (61.1)

96.1 (16.5)

M _malton/M _malton

13

52.2 (21.5)

5 (38.5%)

6 (46.2%)

2 (15.4%)

7 (53.8)

22.5 (6.8)

9 (69.2)

66.8 (28.9)

Z/P _lowell

12

56.5 (18.9)

6 (50.0%)

4 (33.3%)

2 (16.7%)

9 (75.0)

38.9 (10.9)

9 (75.0)

90.7 (39.1)

Z/I

11

57.6 (13.4)

5 (45.5%)

3 (27.3%)

3 (27.3%)

8 (72.7)

64.0 (11.9)

7 (63.6)

76.8 (29.9)

M/Q0 _bellingham

6

22.0 (17.4)

1 (16.7%)

5 (83.3%)

0 (0.0%)

6 (100)

78.2 (8.4)

3 (50.0)

92.3 (3.5)

F/Z

5

40.2 (30.9)

2 (40.0%)

2 (40.0%)

1 (20.0%)

4 (80.0)

76.0 (7.1)

5 (100)

58.0 (38.5)

F/S

4

45.2 (15.5)

1 (25.0%)

1 (25.0%)

2 (50.0%)

1 (25.0)

88.0

1 (25.0)

77.0

P _lowell/P _lowell

4

48.7 (9.2)

3 (75.0%)

1 (25.0%)

0 (0.0%)

3 (75.5)

57.0 (11.2)

3 (75.0)

71.6 (24.5)

S/M _heerlen

4

42.5 (20.2)

2 (50.0%)

2 (50.0%)

0 (0.0%)

2 (50.0)

40.0 (0.0)

3 (75.0)

97.3 (6.4)

Z/M _procida

4

64.0 (9.5)

0 (0.0%)

4 (100.0%)

0 (0.0%)

2 (50.0)

21.5 (0.7)

1 (25.0)

95.0

Z/Q0 _mattawa

4

57.7 (12.7)

1 (25.0%)

2 (50.0%)

1 (25.0%)

3 (75.0)

23.6 (5.5)

2 (50.0)

73.5 (43.1)

S/M _procida

3

63.3 (15.0)

2 (66.7%)

1 (33.3%)

0 (0.0%)

2 (66.7)

41.5 (4.9)

3 (100)

86.3 (29.2)

S/Q0 _mattawa

3

55.6 (7.5)

1 (33.3%)

1 (33.3%)

1 (33.3%)

3 (100)

34.3 (11.9)

3 (100)

90.3 (20.3)

Z/M _heerlen

3

58.6 (9.6)

2 (66.7%)

1 (33.3%)

0 (0.0%)

1 (33.3)

19.0

2 (66.7)

48.0 (26.8)

Z/M _palermo

3

62.3 (6.6)

1 (33.3%)

2 (66.7%)

0 (0.0%)

1 (33.3)

20.0

1 (33.3)

31.0

Z/M _würzburg

3

59.0 (15.6)

3 (100.0%)

0 (0.0%)

0 (0.0%)

3 (100)

47.6 (7.1)

3 (100)

92.0 (14.7)

I/P _lowell

2

51.0 (14.1)

1 (50.0%)

1 (50.0%)

0 (0.0%)

2 (100)

65.5 (6.3)

2 (100)

107.0 (11.3)

M _malton/M _heerlen

2

41–0 (31.1)

1 (50.0%)

1 (50.0%)

0 (0.0%)

1 (50.0)

20.0

1 (50.0)

35.0

M/M _palermo

2

41.5 (3.5)

0 (0.0%)

1 (50.0%)

1 (50.0%)

2 (100)

55.0 (1.4)

2 (100)

93.0 (18.3)

Z/Z _wrexham

2

60.0 (1.4)

2 (100.0%)

0 (0.0%)

0 (0.0%)

1 (50.0)

57.0

1 (50.0)

29.0

M/Q0 _clayton

1

72.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

63.0

1 (100)

114.0

F/I

1

49.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

0 (0.0)

–

0 (0.0)

–

F/Q0 _mattawa

1

60.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

65.0

1 (100)

27.0

I/M _heerlen

1

88.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

52.0

0 (0.0)

–

I/M _malton

1

15.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

0 (0.0)

–

0 (0.0)

–

M _heerlen/M _heerlen

1

49.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

0 (0.0)

–

1 (100)

40.0

M _malton/P _lowell

1

51.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

40.0

0 (0.0)

–

M _procida/M _procida

1

55.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

0 (0.0)

–

0 (0.0)

–

M/M _malton + c.-428G > A + c.424C > T

1

54.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

18.0

1 (100)

96.0

M/M _procida + c.194 T > C + c.853C > T

1

45.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

20.0

0 (0.0)

–

M/M _procida + Q0 _porto

1

55.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

40.0

1 (100)

60.0

M/M _würzburg

1

73.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

3.0

1 (100)

70.0

M/P _lowell + c. − 109 + 41A > G

1

59.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

52.0

1 (100)

75.0

M/P _lowell + Y _orzinuovi

1

58.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

54.0

1 (100)

135.0

M/Q0 _madrid

1

61.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

80.0

0 (0.0)

–

M/Q0 _mattawa + c.1052del

1

52.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

5.0

1 (100)

31.0

M/Z _bristol

1

69.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

59.0

1 (100)

134.0

P _lowell / Z _bristol

1

60.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

22.0

0 (0.0)

–

P _lowell/Y _orzinouvi

1

37.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

44.0

0 (0.0)

–

Q0 _brescia/Q0 _brescia + c. − 10 T > C

1

55.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

18.0

0 (0.0)

–

Q0 _kayseri/Q0 _kayseri

1

43.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

29.0

0 (0.0)

–

Q0 _mattawa/Q0 _mattawa

1

68.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

0 (0.0)

–

1 (100)

54.0

S/M _palermo

1

77.0

0 (0.0%)

0 (0.0%)

1 (100.0%)

1 (100)

40.0

1 (100)

42.0

S/M _würzburg

1

56.0

1 (100.0%)

0 (0.0%)

0 (0.0%)

1 (100)

40.0

1 (100)

53.0

S/Q0 _madrid

1

56.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

40.0

1 (100)

80.0

S/Z _bristol

1

56.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

1 (100)

56.0

1 (100)

131.0

S/Z _bristol + c.-428G > A + c.-10 T > C

1

74.0

0 (0.0%)

1 (100.0%)

0 (0.0%)

0 (0.0)

–

0 (0.0)

–