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. 2011 Mar 30;17:827–843.

Table 2. Sequence variants found in COL4A1 and COL4A2 genes.

 
  
  
  
  
 Affected KTCN-014 (n=10)
 Unaffected KTCN-014 (n=11)
 Unknown KTCN-014 (n=2)
 All KTCN-014 (n=23)
 Other KTCN Families Affected (n=25)
 All (n=48)
Exon dbSNP refID Chromosome Position Allele Change Residue Change no. % no. % no. % no. % no. % no. %
COL4A1 (NM_001845.4)
 -
 110959464
 c.-90G>T
 -
 5
 50
 7
 63.6
 0
 0
 12
 52.2
 15
 60
 27
 56.3
1
 rs9515185
 110959356
 c.19G>C
 Val7Leu
 8
 80
 6
 54.5
 1
 50
 15
 65.2
 18
 72
 33
 68.8
 
 -
 110959167
 c.84+124T>A
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs75270666
 110895200
 c.85–119C>T
 -
 0
 0
 2
 18.2
 1
 50
 3
 13.0
 5
 20
 8
 16.7
 
 rs41275106
 110895150
 c.85–69T>C
 -
 1
 10
 3
 27.3
 0
 0
 4
 17.4
 4
 16
 8
 16.7
 
 rs9521650
 110866265
 c.234+8C>T
 -
 2
 20
 1
 9.1
 0
 0
 3
 13.0
 5
 20
 8
 16.7
 
 rs3737328
 110866065
 c.279+64G>A
 -
 5
 50
 5
 45.5
 1
 50
 11
 47.8
 10
 40
 21
 43.8
7
 rs532625
 110864225
 c.432T>A
 Ala144Ala
 7
 70
 8
 72.7
 2
 100
 17
 73.9
 14
 56
 31
 64.6
 
 rs71805366
 110863985, 110863989
 c.468+5_468+9del5
 -
 3
 30
 2
 18.2
 0
 0
 5
 21.7
 4
 16
 9
 18.8
 
 rs76574181
 110862750
 c.469–191C>T
 -
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 4
 16
 12
 25.0
 
 rs2166208
 110862686
 c.469–127C>T
 -
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 4
 16
 12
 25.0
 
 rs9521649
 110862303
 c.615+24C>T
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs2166207
 110862268
 c.615+59T>G
 -
 7
 70
 9
 81.8
 2
 100
 18
 78.3
 21
 84
 39
 81.3
 
 rs645114
 110861785
 c.616–11G>C
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs7333204
 110861671
 c.651+68A>G
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs7332120
 110861670
 c.651+69C>T
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs10687642
 110861652, 110861653
 c.651+86_651+87ins2
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs55833821
 110861649
 c.651+90C>G
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs35638294
 110861620, 110861621
 c.651+118_651+119ins4
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs7333008
 110861560
 c.651+179A>G
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 16
 64
 26
 54.2
 
 rs598893
 110859743
 c.780+7G>A
 -
 7
 70
 8
 72.7
 2
 100
 17
 73.9
 17
 68
 34
 70.8
 
 rs598819
 110859690
 c.780+60T>C
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs9588116
 110859069
 c.808–7C>G
 -
 7
 70
 9
 81.8
 2
 100
 18
 78.3
 21
 84
 39
 81.3
 
 rs67772891
 110859326
 c.781–88delT
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs677877
 110857895
 c.859–10T>C
 -
 7
 70
 5
 45.5
 2
 100
 14
 60.9
 17
 68
 31
 64.6
 
 rs482757
 110857823
 c.903+18G>A
 -
 7
 70
 5
 45.5
 2
 100
 14
 60.9
 17
 68
 31
 64.6
 
 rs665713
 110857502
 c.957+198T>C
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 19
 76
 42
 87.5
 
 rs648735
 110856180
 c.958–226T>C
 -
 7
 70
 8
 72.7
 2
 100
 17
 73.9
 17
 68
 34
 70.8
 
 rs648705
 110856153
 c.958–199T>G
 -
 7
 70
 8
 72.7
 2
 100
 17
 73.9
 17
 68
 34
 70.8
 
 rs7327728
 110856094
 c.958–140T>A
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs648263
 110856085
 c.958–131T>C
 -
 7
 70
 8
 72.7
 2
 100
 17
 73.9
 17
 68
 34
 70.8
 
 -
 110855997
 c.958–43delT
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 -
 110853032
 c.1085–205A>T
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 22
 88
 45
 93.8
 
 rs995223
 110851036
 c.1121–58A>G
 -
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 17
 68
 27
 56.3
 
 rs496916
 110851014
 c.1121–36C>G
 -
 10
 100
 7
 63.6
 1
 50
 18
 78.3
 8
 32
 26
 54.2
21
 rs995224
 110850842
 c.1257T>C
 Pro419Pro
 3
 30
 6
 54.5
 1
 50
 10
 43.5
 17
 68
 27
 56.3
 
 rs683309
 110850770
 c.1285+44A>G
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs9588112
 110847566
 c.1286–101G>A
 -
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 4
 16
 12
 25.0
 
 rs505050
 110847227
 c.1381+143C>A
 -
 10
 100
 10
 90.9
 1
 50
 21
 91.3
 21
 84
 42
 87.5
 
 rs9521643
 110847217
 c.1381+153T>C
 -
 4
 40
 6
 54.5
 1
 50
 11
 47.8
 18
 72
 29
 60.4
 
 rs2241966
 110847190
 c.1381+180A>G
 -
 4
 40
 6
 54.5
 1
 50
 11
 47.8
 18
 72
 29
 60.4
 
 rs685884
 110845314
 c.1382–54C>T
 -
 9
 90
 11
 100.0
 2
 100
 22
 95.7
 21
 84
 43
 89.6
 
 rs2241967
 110844721
 c.1466–90G>A
 -
 8
 80
 7
 63.6
 1
 50
 16
 69.6
 11
 44
 27
 56.3
25
 rs536174
 110839550
 c.1663A>C
 Thr555Pro
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs9521638
 110839428
 c.1728+57T>C
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 19
 76
 34
 70.8
26
 rs61749897
 110838814
 c.1815T>C
 Pro605Pro
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 4
 16
 12
 25.0
 
 rs2305080
 110838703
 c.1897+29A>G
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 19
 76
 34
 70.8
 
 rs565470
 110838646
 c.1897+86T>C
 -
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 25
 100
 46
 95.8
 
 rs72654112
 110835460
 c.1991–16G>A
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 4
 16
 4
 8.3
 
 rs7329411
 110835195
 c.2095+145G>T
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 19
 76
 34
 70.8
29
 rs16975492
 110833702
 c.2130G>A
 Pro710Pro
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 rs16975491
 110833564
 c.2193+75G>A
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 rs10492497
 110831866
 c.2194–98A>G
 -
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 6
 24
 14
 29.2
 
 rs2131939
 110831837
 c.2194–69C>T
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 4
 16
 4
 8.3
 
 rs503053
 110831451
 c.2345–68A>G
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 -
 110830612
 c.2626–34T>C
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs2305081
 110830090
 c.2716+99C>T
 -
 5
 50
 4
 36.4
 1
 50
 10
 43.5
 9
 36
 19
 39.6
 
 rs1562173
 110828922
 c.2968+51C>T
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 rs1975514
 110828891
 c.2969–31A>G
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
37
 rs874204
 110827580
 c.3183G>A
 Gly1061Gly
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
37
 rs874203
 110827574
 c.3189A>T
 Arg1063Arg
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 -
 110826231
 c.3505+16C>T
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs17517598
 110825264
 c.3506–147C>A
 -
 1
 10
 1
 9.1
 0
 0
 2
 8.7
 4
 16
 6
 12.5
 
 rs2289799
 110824974
 c.3556+93G>C
 -
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 17
 68
 32
 66.7
 
 rs2275845
 110823178
 c.3557–99C>T
 -
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 6
 24
 14
 29.2
42
 -
 110822943
 c.3693G>A
 Thr1231Thr
 0
 0
 2
 18.2
 1
 50
 3
 13.0
 7
 28
 10
 20.8
 
 -
 110822653
 c.3742+231C>T
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 2
 8
 2
 4.2
 
 rs589985
 110819586
 c.3877–9C>T
 -
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 24
 96
 45
 93.8
 
 rs1778817
 110819460
 c.3949+45C>T
 -
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 24
 96
 45
 93.8
 
 rs652572
 110819457
 c.3949+48T>C
 -
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 24
 96
 45
 93.8
 
 rs1213026
 110819362
 c.3949+143T>C
 -
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 24
 96
 45
 93.8
 
 -
 110818760:110818763
 c.3950–110_3950–113del4
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
45
 rs3742207
 110818598
 c.4002A>C
 Gln1334His
 8
 80
 4
 36.4
 1
 50
 13
 56.5
 10
 40
 23
 47.9
 
 rs1816884
 110817171
 c.4150+38C>G
 -
 4
 40
 6
 54.5
 2
 100
 12
 52.2
 14
 56
 26
 54.2
 
 rs2298241
 110816097
 c.4151–189C>G
 -
 2
 20
 6
 54.5
 0
 0
 8
 34.8
 5
 20
 13
 27.1
 
 rs2298240
 110815673
 c.4249+137G>C
 -
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 2
 8
 2
 4.2
 
 rs16975424
 110814923
 c.4250–134T>C
 -
 1
 10
 5
 45.5
 0
 0
 6
 26.1
 5
 20
 11
 22.9
49
 rs1133219
 110813709
 c.4470C>T
 Ala1490Ala
 3
 30
 5
 45.5
 2
 100
 10
 43.5
 10
 40
 20
 41.7
 
 rs2275843
 110813532
 c.4640+7C>T
 -
 2
 20
 6
 54.5
 0
 0
 8
 34.8
 5
 20
 13
 27.1
 
 -
 110813531
 c.4640+8G>A
 -
 4
 40
 2
 18.2
 0
 0
 6
 26.1
 0
 0
 6
 12.5
 
 rs2275842
 110813523
 c.4640+16G>A
 -
 2
 20
 6
 54.5
 0
 0
 8
 34.8
 5
 20
 13
 27.1
 
 rs617111
 110807776
 c.4641–32G>A
 -
 4
 40
 2
 18.2
 0
 0
 6
 26.1
 0
 0
 6
 12.5
 
 rs681884
 110805062
 c.4756–209C>T
 -
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 24
 96
 47
 97.9
 
 -
 110804970
 c.4756–117G>C
 -
 1
 10
 1
 9.1
 0
 0
 2
 8.7
 0
 0
 2
 4.2
51
 rs650724
 110804809
 c.4800C>T
 Ser1600Ser
 2
 20
 4
 36.4
 0
 0
 6
 26.1
 11
 44
 17
 35.4
 
 rs13260
 110802123
 c.*587C>A
 -
 2
 20
 4
 36.4
 0
 0
 6
 26.1
 11
 44
 17
 35.4
 
 rs28362515
 110801735
 c.*975A>C
 -
 1
 10
 1
 9.1
 0
 0
 2
 8.7
 0
 0
 2
 4.2
COL4A2 (NM_001846.2)
 
 rs7989823
 110959643
 c.-277A>C
  
 7
 70
 9
 81.8
 0
 0
 16
 69.6
 25
 100
 41
 85.4
 
 rs7990009
 110959688
 c.-232C>G
  
 5
 50
 7
 63.6
 0
 0
 12
 52.2
 17
 68
 29
 60.4
 
 rs7990017
 110959705
 c.-215C>T
  
 7
 70
 9
 81.8
 0
 0
 16
 69.6
 23
 92
 39
 81.3
 
 rs7991332
 110959717
 c.-203T>C
  
 5
 50
 7
 63.6
 0
 0
 12
 52.2
 15
 60
 27
 56.3
 
 rs35466678
 110959787
 c.-133A>G
  
 3
 30
 3
 27.3
 0
 0
 6
 26.1
 14
 56
 20
 41.7
 
 rs7327528
 110960044
 c.-44–163G>C
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 4
 16
 4
 8.3
 
 rs76536922
 110960164
 c.-44–43C>T
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 4
 16
 4
 8.3
 
 rs4773143
 110960685
 c.99+215T>C
  
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 21
 84
 36
 75.0
 
 rs4773144
 110960712
 c.99+242A>G
  
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 21
 84
 36
 75.0
 
 rs12876517
 111009643
 c.100–176G>A
  
 6
 60
 9
 81.8
 2
 100
 17
 73.9
 19
 76
 36
 75.0
 
 rs4771678
 111076940
 c.181–141T>C
  
 8
 80
 10
 90.9
 2
 100
 20
 87.0
 20
 80
 40
 83.3
Ex5
 rs4238272
 111077197
 c.297G>A
 Thr99Thr
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 22
 88
 45
 93.8
 
 rs74967960
 111077234
 c.315+19T>C
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs7334986
 111080609
 c.361–205G>A
  
 7
 70
 4
 36.4
 1
 50
 12
 52.2
 8
 32
 20
 41.7
 
 -
 111080964
 c.477+34C>T
  
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 0
 0
 8
 16.7
 
 rs3929758
 111082157
 c.478–75C>A
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 22
 88
 43
 89.6
Ex9
 rs62621885
 111082772
 c.574G>T
 Val192Phe
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs60212072
 111086650
 c.685–98G>A
  
 0
 0
 3
 27.3
 0
 0
 3
 13.0
 6
 24
 9
 18.8
 
 rs41275108
 111088456
 c.727–160A>T
  
 4
 40
 2
 18.2
 0
 0
 6
 26.1
 2
 8
 8
 16.7
 
 rs7983487
 111090854
 c.862–111A>G
  
 1
 10
 5
 45.5
 0
 0
 6
 26.1
 12
 48
 18
 37.5
 
 rs7984937
 111090909
 c.862–56T>C
  
 1
 10
 5
 45.5
 0
 0
 6
 26.1
 13
 52
 19
 39.6
 
 rs7984100
 111090924
 c.862–41G>A
  
 1
 10
 5
 45.5
 0
 0
 6
 26.1
 13
 52
 19
 39.6
 
 rs7983979
 111091024
 c.912+9C>T
  
 0
 0
 3
 27.3
 0
 0
 3
 13.0
 6
 24
 9
 18.8
 
 rs4771680
 111098017
 c.958–159T>C
  
 1
 10
 2
 18.2
 0
 0
 3
 13.0
 12
 48
 15
 31.3
 
 rs7489705
 111098110
 c.958–66C>T
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 21
 84
 44
 91.7
Ex17
 rs4103
 111098226
 c.1008C>T
 Pro336Pro
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 15
 60
 38
 79.2
 
 rs59905747
 111099045
 c.1012–100C>G
  
 5
 50
 5
 45.5
 1
 50
 11
 47.8
 5
 20
 16
 33.3
 
 rs45612833
 111099057
 c.1012–88G>A
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 21
 84
 44
 91.7
 
 rs7326449
 111099122
 c.1012–23G>A
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 21
 84
 44
 91.7
 
 rs56676181
 111101931
 c.1079–95C>T
  
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 7
 28
 19
 39.6
 
 rs75082326
 111101952
 c.1079–74A>G
  
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 7
 28
 19
 39.6
Ex19
 rs76425569
 111102042
 c.1095G>A
 Pro365Pro
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 7
 28
 19
 39.6
Ex19
 rs74941798
 111102126
 c.1179C>T
 Ile393Ile
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 7
 28
 19
 39.6
 
 rs34734302
 111102183
 c.1189+47A>G
  
 9
 90
 9
 81.8
 2
 100
 20
 87.0
 13
 52
 33
 68.8
 
 -
 111102853
 c.1339+52C>G
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs72657934
 111102865
 c.1339+64G>A
  
 0
 0
 2
 18.2
 0
 0
 2
 8.7
 3
 12
 5
 10.4
 
 rs9515218
 111109859
 c.1432+77A>G
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs9555703
 111109882
 c.1432+100A>G
  
 6
 60
 4
 36.4
 2
 100
 12
 52.2
 5
 20
 17
 35.4
 
 rs9515219
 111109960
 c.1432+178T>C
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs9521781
 111111023
 c.1433–95T>C
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs9521782
 111111043
 c.1433–75G>A
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 15
 60
 36
 75.0
Ex22
 rs7990214
 111111173
 c.1488G>A
 Pro496Pro
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
Ex22
 rs7990383
 111111235
 c.1550G>A
 Arg517Lys
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs4773186
 111111382
 c.1596+101G>A
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 22
 88
 45
 93.8
 
 rs41275110
 111114554
 c.1669+21G>A
  
 4
 40
 6
 54.5
 0
 0
 10
 43.5
 6
 24
 16
 33.3
 
 rs7992330
 111114751
 c.1776+20G>A
  
 6
 60
 4
 36.4
 2
 100
 12
 52.2
 5
 20
 17
 35.4
 
 rs3803237
 111117668
 c.1777–84G>A
  
 4
 40
 6
 54.5
 0
 0
 10
 43.5
 6
 24
 16
 33.3
 
 rs3803236
 111117745
 c.1777–7C>T
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs3825490
 111117984
 c.1978+31C>T
  
 4
 40
 4
 36.4
 1
 50
 9
 39.1
 8
 32
 17
 35.4
 
 rs72657953
 111118073
 c.1978+120C>T
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 4
 16
 8
 16.7
 
 rs1983931
 111118102
 c.1978+149G>A
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs1983932
 111118221
 c.1979–129T>C
  
 3
 30
 3
 27.3
 0
 0
 6
 26.1
 7
 28
 13
 27.1
 
 rs41275112
 111118450
 c.2038+41C>T
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 1
 4
 1
 2.1
 
 rs1927350
 111118546
 c.2038+137T>G
  
 3
 30
 3
 27.3
 0
 0
 6
 26.1
 7
 28
 13
 27.1
 
 rs3803232
 111119296
 c.2039–91A>G
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs3803231
 111119342
 c.2039–45T>C
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 4
 16
 8
 16.7
Ex27
 rs3803230
 111119396
 c.2048G>C
 Gly683Ala
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 4
 16
 8
 16.7
 
 rs9559813
 111121444
 c.2096–120C>A
  
 8
 80
 9
 81.8
 2
 100
 19
 82.6
 14
 56
 33
 68.8
 
 rs9559814
 111121483
 c.2096–81A>G
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
Ex28
 rs78829338
 111121570
 c.2102A>G
 Lys701Arg
 1
 10
 3
 27.3
 1
 50
 5
 21.7
 3
 12
 8
 16.7
Ex28
 rs9583500
 111121620
 c.2152C>T
 Pro718Ser
 4
 40
 4
 36.4
 0
 0
 8
 34.8
 5
 20
 13
 27.1
 
 rs9515229
 111121717
 c.2203+46A>G
  
 9
 90
 10
 90.9
 2
 100
 21
 91.3
 16
 64
 37
 77.1
 
 rs9515230
 111121847
 c.2203+176T>C
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 4
 16
 8
 16.7
 
 rs9588178
 111125576
 c.2425+79G>A
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 2
 8
 2
 4.2
 
 rs11617206
 111125606
 c.2425+109A>G
  
 7
 70
 7
 63.6
 1
 50
 15
 65.2
 22
 88
 37
 77.1
 
 rs9588179
 111125747
 c.2425+250C>A
  
 0
 0
 0
 0.0
 0
 0
 0
 0.0
 2
 8
 2
 4.2
 
 rs9559818
 111130226
 c.2426–124G>A
  
 8
 80
 7
 63.6
 1
 50
 16
 69.6
 21
 84
 37
 77.1
 
 rs2281974
 111130519
 c.2587+8C>T
  
 5
 50
 5
 45.5
 1
 50
 11
 47.8
 18
 72
 29
 60.4
 
 rs9301457
 111130599
 c.2587+88G>C
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs2281973
 111130674
 c.2587+163C>T
  
 4
 40
 5
 45.5
 1
 50
 10
 43.5
 15
 60
 25
 52.1
 
 rs72657977
 111132413
 c.2588–154C>T
  
 4
 40
 3
 27.3
 0
 0
 7
 30.4
 3
 12
 10
 20.8
 
 rs4773194
 111132490
 c.2588–77A>G
  
 10
 100
 8
 72.7
 2
 100
 20
 87.0
 17
 68
 37
 77.1
 
 rs9521803
 111132556
 c.2588–11C>T
  
 8
 80
 6
 54.5
 2
 100
 16
 69.6
 8
 32
 24
 50.0
 
 rs1475438
 111132820
 c.2758+83G>A
  
 4
 40
 6
 54.5
 0
 0
 10
 43.5
 11
 44
 21
 43.8
 
 rs58124222
 111132947
 c.2758+210G>A
  
 0
 0
 3
 27.3
 0
 0
 3
 13.0
 8
 32
 11
 22.9
 
 rs3803229
 111134780
 c.2759–83G>A
  
 6
 60
 7
 63.6
 1
 50
 14
 60.9
 9
 36
 23
 47.9
 
 rs3803228
 111134858
 c.2759–5T>C
  
 0
 0
 3
 27.3
 0
 0
 3
 13.0
 8
 32
 11
 22.9
 
 rs2296853
 111137240
 c.2903–12A>G
  
 3
 30
 3
 27.3
 2
 100
 8
 34.8
 6
 24
 14
 29.2
 
 rs2296852
 111137465
 c.3025+91G>A
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 10
 40
 14
 29.2
 
 rs11839527
 111137488
 c.3025+114G>A
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 10
 40
 14
 29.2
 
 rs41315048
 111137975
 c.3026–27G>T
  
 1
 10
 3
 27.3
 0
 0
 4
 17.4
 2
 8
 6
 12.5
 
 rs2296851
 111138255
 c.3207+72G>A
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 10
 40
 14
 29.2
 
 rs35120918
 111143541
 c.3347–39G>A
  
 0
 0
 1
 9.1
 1
 50
 2
 8.7
 0
 0
 2
 4.2
 
 rs413756
 111143755
 c.3454+68T>C
  
 8
 80
 11
 100.0
 1
 50
 20
 87.0
 22
 88
 42
 87.5
 
 rs402661
 111143851
 c.3454+164G>C
  
 3
 30
 5
 45.5
 0
 0
 8
 34.8
 10
 40
 18
 37.5
 
 rs452020
 111144102
 c.3455–315T>C
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs403839
 111144321
 c.3455–96G>A
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 7
 28
 11
 22.9
 
 -
 111144382
 c.3455–35T>C
  
 1
 10
 0
 0.0
 0
 0
 1
 4.3
 1
 4
 2
 4.2
 
 rs2296849
 111144412
 c.3455–5C>G
  
 1
 10
 3
 27.3
 0
 0
 4
 17.4
 2
 8
 6
 12.5
 
 rs421177
 111144565
 c.3562+41C>T
  
 1
 10
 3
 27.3
 0
 0
 4
 17.4
 2
 8
 6
 12.5
 
 rs57003582
 111145456:111145486
 c.3563–100_3563–70del30
7
 70
 11
 100.0
 1
 50
 19
 82.6
 22
 88
 41
 85.4
 
 rs2274544
 111145633
 c.3634+4C>T
  
 1
 10
 3
 27.3
 0
 0
 4
 17.4
 2
 8
 6
 12.5
 
 rs2391833
 111145676
 c.3634+47G>C
  
 8
 80
 10
 90.9
 1
 50
 19
 82.6
 20
 80
 39
 81.3
 
 rs9559826
 111145779
 c.3634+150C>T
  
 2
 20
 2
 18.2
 0
 0
 4
 17.4
 8
 32
 12
 25.0
 
 -
 111147637
 c.3635–52A>G
  
 3
 30
 4
 36.4
 1
 50
 8
 34.8
 0
 0
 8
 16.7
 
 rs378601
 111153934
 c.3761–81G>A
  
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs388222
 111154159
 c.3877+28C>T
  
 8
 80
 8
 72.7
 2
 100
 18
 78.3
 21
 84
 39
 81.3
 
 rs2281968
 111154160
 c.3877+29G>A
  
 5
 50
 8
 72.7
 1
 50
 14
 60.9
 18
 72
 32
 66.7
 
 rs4773198
 111155711
 c.4040–19C>T
  
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 8
 32
 20
 41.7
Ex43
 rs4773199
 111155779
 c.4089G>A
 Ala1363Ala
 5
 50
 4
 36.4
 1
 50
 10
 43.5
 8
 32
 18
 37.5
 
 rs9301460
 111156153
 c.4139–41G>A
  
 5
 50
 6
 54.5
 1
 50
 12
 52.2
 8
 32
 20
 41.7
 
 rs414881
 111156411
 c.4285+71G>A
  
 7
 70
 8
 72.7
 1
 50
 16
 69.6
 21
 84
 37
 77.1
Ex45
 rs4771683
 111156499
 c.4290T>C
 Phe1430Phe
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
Ex46
 rs445348
 111158874
 c.4515A>G
 Pro1505Pro
 10
 100
 11
 100.0
 2
 100
 23
 100.0
 25
 100
 48
 100.0
 
 rs2479426
 111164198
 c.4882–83T>C
  
 7
 70
 6
 54.5
 2
 100
 15
 65.2
 20
 80
 35
 72.9
 
 rs422733
 111164614
 c.*76T>C
  
 7
 70
 6
 54.5
 2
 100
 15
 65.2
 20
 80
 35
 72.9
 
 rs3074455
 111164639,
111164640
 c.*101_*102del2
  
 7
 70
 6
 54.5
 2
 100
 15
 65.2
 20
 80
 35
 72.9
 
 rs10509
 111164955
 c.*417C>G
  
 8
 80
 11
 100.0
 2
 100
 21
 91.3
 25
 100
 46
 95.8
 
 rs1049906
 111165079
 c.*541C>T
  
 4
 40
 8
 72.7
 1
 50
 13
 56.5
 18
 72
 31
 64.6
 
 rs1049931
 111165095
 c.*557A>G
  
 6
 60
 9
 81.8
 1
 50
 16
 69.6
 20
 80
 36
 75.0
 
 rs1049977
 111165188
 c.*650T>C
  
 6
 60
 9
 81.8
 1
 50
 16
 69.6
 19
 76
 35
 72.9
 
 rs7711
 111165201
 c.*663T>C
  
 6
 60
 9
 81.8
 1
 50
 16
 69.6
 19
 76
 35
 72.9
  rs15457 111165265 c.*727G>C   4 40 8 72.7 1 50 13 56.5 17 68 30 62.5

dbSNP ref ID: identity numbers of observed sequence variants; chromosome position (NCBI build 37.1).