Table 5

 Silent and intronic variants

ExoncDNA nucleotidegDNA nucleotideVariantNormal control frequencyReference*
*Numbers indicate the following: 1current study, 2Furu et al,153Rossetti et al,144Ward et al.6
Unclassified variant from affected individuals – silent
31294393c.129 T→C0/200Novel1
32403561797c.4035 C→A0/200Novel1
446900183920c.6900C→T0/200Novel1
497533219550c.7533 A→G0/2001, 2
599402339399c.9402 G→A0/200Novel1
Unclassified variant from affected individuals – intronic
12IVS1121483c.779−12insT0/200Novel1
19IVS1831811c.1694−32 C→G0/200Novel1
43IVS43183691c.6865+63 A→C0/200Novel1
50IVS50231739c.7911+19 T→C0/200Novel1
54IVS53296213c.8303−27 T→C0/200Novel1
69IVS694550663c.11665+18delT0/200Novel1
Unclassified variant (<1.4% normal control chomosomes) – silent
1388822529c.888 A→T1/2001, 2
30341159266c.3411 G→A1/200Novel1
30346859324c.3468 G→A1/200Novel1
Unclassified variant (<1.4% normal control chomosomes) – intronic
2IVS12533c.-84−22dupT1/200Novel1
7IVS613953c.449−78 C→T1/200Novel1
44IVS43183872c.6866−14 T→C1/200Novel1
44IVS44184059c.6996+43 C→T1/200Novel1
52IVS52251246c.8173+37 G→A1/200Novel1
53IVS52256614c.8174−10dupT1/200Novel1
56IVS55314769c.8555−55 G→A1/2001, 2
Polymorphisms – silent
42145113c.214C→T19/1281, 2, 4
42345113c.234C→T8/1281, 3, 4
15118527596c.1185 C→T8/2001, 4
17158730667c.1587 T→C9/2001, 2, 3, 4
21204624402c.2046 A→C21/1281, 2, 4
32375661518c.3756 G→C2/2381, 3, 4
32492062682c.4920 A→G3/2381, 2, 3, 4
32519962961c.5199 C→A5/2001, 2
365896127731c.5896C→T11/2001, 2
497587219604c.7587 A→G88/2001, 2, 3, 4
507764231573c.7764 A→G60/2001, 2, 3, 4
578673332705c.8673 C→G3/200Novel1
599237339234c.9237 G→A35/2001, 2, 3, 4
6510521428008c.10521 C→T5/1281, 2, 3, 4
6711340439524c.11340 T→C2/1501, 2, 3, 4
Polymorphisms – intronic
7IVS714128c.527+19 T→C50/2001, 2, 3
7IVS714160c.527+51 G→T10/2001, 2
8IVS815524c.602+67 A→G72/2001, 2
16IVS1528961c.1234−10 T→A9/2001, 2
16IVS1528966c.1234−5 C→T3/200Novel1
22IVS2237428c.2279+13 T→G4/2001, 3
32IVS3161359c.3629−32 A→G3/3201, 2
32IVS3263012c.5236+14 A→G3/2001, 2
32IVS3263029c.5236+31delCTTT2/2001
35IVS3477071c.5601−42 T→C5/200Novel1
40IVS39175649c.6333-8_6333-7delTT7/200Novel1
49IVS49219783c.7733+33 C→T62/200Novel1
49IVS49219793c.7733+43 G→A2/200Novel1
50IVS49231538c.7734−4 T→C60/2001, 2
52IVS51251128c.8108−16 G→C9/200Novel1
53IVS52256605c.8174−19 A→T3/200Novel1
53IVS53256764c.8302+12 T→A21/3201, 2
54IVS54296448c.8440+71 A→G3/200Novel1
55IVS54311660c.8441−32 G→C19/2001, 2
57IVS56332603c.8643−72 C→T44/2001, 2
57IVS56332657c.8643−24 A→G19/2001, 2
58IVS57334241c.8798−19 A→C15/2001, 2
59IVS59339836c.9829+10 T→G1/2001, 2
65IVS65428672c.11174+11 A→G3/200Novel1
68IVS67448586c.11399−71 G→A10/200Novel1
69IVS69455095c.11665+47delA5/200Novel1