Table 2 Median age of ESRD in affected males and numbers of known gene-carriers in adult type Alport syndrome

leu1649arg [6]

39

150

222

372

48.6

cys1564Ser [1]

32

52

81

133

17.4

arg1677gln [5]

50

19

38

57

7.5

gly1170ser

38

13

11

24

3.1

c.2476delC

44

11

12

23

3.0

gln1234ter

42

7

16

23

3.0

c.1424-20 T>A

32

7

12

19

2.5

cys1564arg

33

9

9

18

2.4

pro1584 leu

34.5

6

9

15

2.0

arg1563gln [2]

34.5

5

8

13

1.7

gly1030ser [10]

38

9

3

12

1.6

c.687+1G>A

33

7

4

11

1.4

gly763glu

42

5

3

8

1.0

gly548asp

45

6

2

8

1.0

gly1244asp [8]

57

3

3

6

0.8

arg1677pro [8]

37.5

2

2

4

0.5

gly295asp [8]

49.5

3

1

4

0.5

gly719arg

>38

2

2

4

0.5

c.3554 -3C>G [10]

31

2

2

4

0.5

gly533glu

32

1

2

3

0.4

c.4177delC

35

2

0

2

0.3

gly325gln

>41

1

1

2

0.3

Total

322

443

765

100.0