Table 2 of Karolak, Mol Vis 2011; 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).

Karolak, Mol Vis 2011; 17:827-843. http://www.molvis.org/molvis/v17/a94

©2011 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535