<table>
<colgroup>
<col style="width: 4%" />
<col style="width: 7%" />
<col style="width: 7%" />
<col style="width: 8%" />
<col style="width: 9%" />
<col style="width: 6%" />
<col style="width: 4%" />
<col style="width: 9%" />
<col style="width: 20%" />
<col style="width: 19%" />
</colgroup>
<tbody>
<tr class="odd">
<td colspan="10"><strong>SUPPLEMENTARY TABLE 1. Glycine substitutions in
COL1A1</strong></td>
</tr>
<tr class="even">
<td><strong>Triplet</strong></td>
<td><h1 id="nucleotide"><strong>Nucleotide</strong></h1>
<p><strong>Change <sup>a</sup></strong></p></td>
<td><p><strong>Mutation</strong></p>
<p><strong>Position <sup>b</sup></strong></p></td>
<td><p><strong>Aminoacid</strong></p>
<p><strong>Substitution<sup>c</sup></strong></p></td>
<td><p><strong>Aminoacid</strong></p>
<p><strong>Substitution<sup>d</sup></strong></p></td>
<td><p><strong>Bächinger</strong></p>
<p><strong>Score <sup>e</sup></strong></p></td>
<td colspan="2"><p><strong>Phenotype <sup>f</sup></strong></p>
<p><strong>Lethal Non-lethal</strong></p></td>
<td><strong>Reference</strong></td>
<td><p><strong>Unpublished</strong></p>
<p><strong>(personal communications)</strong></p></td>
</tr>
<tr class="odd">
<td>5</td>
<td>c.572G&gt;C</td>
<td>C-2</td>
<td>Gly13Ala</td>
<td>p.Gly191Ala</td>
<td>2</td>
<td></td>
<td>aneurysm</td>
<td>(Mayer, et al., 1996)</td>
<td></td>
</tr>
<tr class="even">
<td>5</td>
<td>c.572G&gt;C</td>
<td>C-2</td>
<td>Gly13Ala</td>
<td>p.Gly191Ala</td>
<td>2</td>
<td></td>
<td>I</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>5</td>
<td>c.572G&gt;A</td>
<td>A-2</td>
<td>Gly13Asp</td>
<td>p.Gly191Asp</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Cabral, et al., 2005)</td>
<td></td>
</tr>
<tr class="even">
<td>7</td>
<td>c.589G&gt;T</td>
<td>T-1</td>
<td>Gly19Cys</td>
<td>p.Gly197Cys</td>
<td>1</td>
<td></td>
<td>Osteoporosis</td>
<td>(Nicholls, et al., 1990)</td>
<td></td>
</tr>
<tr class="odd">
<td>7</td>
<td>c.589G&gt;T</td>
<td>T-1</td>
<td>Gly19Cys</td>
<td>p.Gly197Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Lund, et al., 1998)</td>
<td></td>
</tr>
<tr class="even">
<td>7</td>
<td>c.589G&gt;T</td>
<td>T-1</td>
<td>Gly19Cys</td>
<td>p.Gly197Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>7</td>
<td>c.589G&gt;T</td>
<td>T-1</td>
<td>Gly19Cys</td>
<td>p.Gly197Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>7</td>
<td>c.589G&gt;A</td>
<td>A-1</td>
<td>Gly19Ser</td>
<td>p.Gly197Ser</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>7</td>
<td>c.590G&gt;A</td>
<td>A-2</td>
<td>Gly19Asp</td>
<td>p.Gly197Asp</td>
<td>1</td>
<td></td>
<td>OI/EDS</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>9</td>
<td>c.607G&gt;C</td>
<td>C-1</td>
<td>Gly25Arg</td>
<td>p.Gly203Arg</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>9</td>
<td>c.607G&gt;C</td>
<td>C-1</td>
<td>Gly25Arg</td>
<td>p.Gly203Arg</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>9</td>
<td>c.608G&gt;T</td>
<td>T-2</td>
<td>Gly25Val</td>
<td>p.Gly203Val</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>9</td>
<td>c.608G&gt;T</td>
<td>T-2</td>
<td>Gly25Val</td>
<td>p.Gly203Val</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>9</td>
<td>c.608G&gt;T</td>
<td>T-2</td>
<td>Gly25Val</td>
<td>p.Gly203Val</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>9</td>
<td>c.608G&gt;T</td>
<td>T-2</td>
<td>Gly25Val</td>
<td>p.Gly203Val</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Cabral, et al., 2005)</td>
<td></td>
</tr>
<tr class="even">
<td>9</td>
<td>c.608G&gt;T</td>
<td>T-2</td>
<td>Gly25Val</td>
<td>p.Gly203Val</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="odd">
<td>12</td>
<td>c.634G&gt;A</td>
<td>A-1</td>
<td>Gly34Arg</td>
<td>p.Gly212Arg</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>15</td>
<td>c.661G&gt;T</td>
<td>T-1</td>
<td>Gly43Cys</td>
<td>p.Gly221Cys</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Shapiro, et al., 1992)</td>
<td></td>
</tr>
<tr class="odd">
<td>15</td>
<td>c.661G&gt;T</td>
<td>T-1</td>
<td>Gly43Cys</td>
<td>p.Gly221Cys</td>
<td>2</td>
<td></td>
<td>I</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>16</td>
<td>c.670G&gt;T</td>
<td>T-1</td>
<td>Gly46Cys</td>
<td>p.Gly224Cys</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Byers, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>21</td>
<td>c.716G&gt;A</td>
<td>A-2</td>
<td>Gly61Asp</td>
<td>p.Gly239Asp</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="even">
<td>24</td>
<td>c.742G&gt;A</td>
<td>A-1</td>
<td>Gly70Arg</td>
<td>p.Gly248Arg</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>25</td>
<td>c.751G&gt;T</td>
<td>T-1</td>
<td>Gly73Cys</td>
<td>p.Gly251Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>26</td>
<td>c.760G&gt;A</td>
<td>A-1</td>
<td>Gly76Arg</td>
<td>p.Gly254Arg</td>
<td>1</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Mottes</td>
</tr>
<tr class="odd">
<td>26</td>
<td>c.761G&gt;A</td>
<td>A-2</td>
<td>Gly76Glu</td>
<td>p.Gly254Glu</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Cabral, et al., 2001)</td>
<td></td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Redford-Badwal, et al., 1996)</td>
<td></td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Ries-Levavi, et al., 2004)</td>
<td></td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Gat-Yablonski, et al., 1997)</td>
<td></td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IA</td>
<td>(Benusiene and Kucinskas, 2003)</td>
<td></td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IA</td>
<td>(Benusiene and Kucinskas, 2003)</td>
<td></td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Benusiene and Kucinskas, 2003)</td>
<td></td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>27</td>
<td>c.769G&gt;A</td>
<td>A-1</td>
<td>Gly79Arg</td>
<td>p.Gly257Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>29</td>
<td>c.787G&gt;A</td>
<td>A-1</td>
<td>Gly85Arg</td>
<td>p.Gly263Arg</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Deak, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>29</td>
<td>c.788G&gt;T</td>
<td>T-2</td>
<td>Gly85Val</td>
<td>p.Gly263Val</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Valli, et al., 1993b)</td>
<td></td>
</tr>
<tr class="even">
<td>30</td>
<td>c.797G&gt;A</td>
<td>A-2</td>
<td>Gly88Glu</td>
<td>p.Gly266Glu</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td>(Cabral, et al., 2005)</td>
<td></td>
</tr>
<tr class="odd">
<td>31</td>
<td>c.805G&gt;A</td>
<td>A-1</td>
<td>Gly91Ser</td>
<td>p.Gly269Ser</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>31</td>
<td>c.806G&gt;T</td>
<td>T-2</td>
<td>Gly91Val</td>
<td>p.Gly269Val</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>32</td>
<td>c.814G&gt;T</td>
<td>T-1</td>
<td>Gly94Cys</td>
<td>p.Gly272Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td>(Starman, et al., 1989)</td>
<td></td>
</tr>
<tr class="even">
<td>32</td>
<td>c.814G&gt;T</td>
<td>T-1</td>
<td>Gly94Cys</td>
<td>p.Gly272Cys</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>32</td>
<td>c.814G&gt;T</td>
<td>T-1</td>
<td>Gly94Cys</td>
<td>p.Gly272Cys</td>
<td>1</td>
<td></td>
<td>I</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>33</td>
<td>c.823G&gt;C</td>
<td>C-1</td>
<td>Gly97Arg</td>
<td>p.Gly275Arg</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>33</td>
<td>c.824G&gt;A</td>
<td>A-2</td>
<td>Gly97Asp</td>
<td>p.Gly275Asp</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Lightfoot, et al., 1992)</td>
<td></td>
</tr>
<tr class="even">
<td>35</td>
<td>c.841G&gt;A</td>
<td>A-1</td>
<td>Gly103Ser</td>
<td>p.Gly281Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>35</td>
<td>c.842G&gt;A</td>
<td>A-2</td>
<td>Gly103Asp</td>
<td>p.Gly281Asp</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>36</td>
<td>c.850G&gt;A</td>
<td>A-1</td>
<td>Gly106Ser</td>
<td>p.Gly284Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>36</td>
<td>c.851G&gt;C</td>
<td>C-2</td>
<td>Gly106Ala</td>
<td>p.Gly284Ala</td>
<td>2</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>41</td>
<td>c.895G&gt;C</td>
<td>C-1</td>
<td>Gly121Arg</td>
<td>p.Gly299Arg</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="odd">
<td>41</td>
<td>c.896G&gt;A</td>
<td>A-2</td>
<td>Gly121Asp</td>
<td>p.Gly299Asp</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>43</td>
<td>c.913G&gt;A</td>
<td>A-1</td>
<td>Gly127Ser</td>
<td>p.Gly305Ser</td>
<td>1.5</td>
<td></td>
<td>IV</td>
<td>(Ward, et al., 2001)</td>
<td></td>
</tr>
<tr class="odd">
<td>43</td>
<td>c.913G&gt;C</td>
<td>C-1</td>
<td>Gly127Arg</td>
<td>p.Gly305Arg</td>
<td>1.5</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>43</td>
<td>c.913G&gt;C</td>
<td>C-1</td>
<td>Gly127Arg</td>
<td>p.Gly305Arg</td>
<td>1.5</td>
<td></td>
<td>I</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="odd">
<td>45</td>
<td>c.931G&gt;A</td>
<td>A-1</td>
<td>Gly133Arg</td>
<td>p.Gly311Arg</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Ward, et al., 2001)</td>
<td></td>
</tr>
<tr class="even">
<td>45</td>
<td>c.932G&gt;A</td>
<td>A-2</td>
<td>Gly133Asp</td>
<td>p.Gly311Asp</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>45</td>
<td>c.932G&gt;A</td>
<td>A-2</td>
<td>Gly133Asp</td>
<td>p.Gly311Asp</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>46</td>
<td>c.940G&gt;A</td>
<td>A-1</td>
<td>Gly136Arg</td>
<td>p.Gly314Arg</td>
<td>2</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="odd">
<td>49</td>
<td>c.968G&gt;A</td>
<td>A-2</td>
<td>Gly145Glu</td>
<td>p.Gly323Glu</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>50</td>
<td>c.976G&gt;A</td>
<td>C-1</td>
<td>Gly148Arg</td>
<td>p.Gly326Arg</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>50</td>
<td>c.976G&gt;A</td>
<td>C-1</td>
<td>Gly148Arg</td>
<td>p.Gly326Arg</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>50</td>
<td>c.977G&gt;A</td>
<td>A-2</td>
<td>Gly148Asp</td>
<td>p.Gly326Asp</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="odd">
<td>50</td>
<td>c.977G&gt;A</td>
<td>A-2</td>
<td>Gly148Asp</td>
<td>p.Gly326Asp</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Barnes</td>
</tr>
<tr class="even">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Pruchno, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Pruchno, et al., 1991)</td>
<td></td>
</tr>
<tr class="even">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Zhuang, et al., 1996b)</td>
<td></td>
</tr>
<tr class="odd">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>52</td>
<td>c.994G&gt;A</td>
<td>A-1</td>
<td>Gly154Arg</td>
<td>p.Gly332Arg</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>52</td>
<td>c.995G&gt;C</td>
<td>C-2</td>
<td>Gly154Ala</td>
<td>p.Gly332Ala</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Krakow, et al., 1996)</td>
<td></td>
</tr>
<tr class="odd">
<td>54</td>
<td>c.1012G&gt;T</td>
<td>T-1</td>
<td>Gly160Cys</td>
<td>p.Gly338Cys</td>
<td>2</td>
<td></td>
<td>I</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="even">
<td>54</td>
<td>c.1012G&gt;A</td>
<td>A-1</td>
<td>Gly160Ser</td>
<td>p.Gly338Ser</td>
<td>2</td>
<td></td>
<td>I</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>58</td>
<td>c.1048G&gt;C</td>
<td>C-1</td>
<td>Gly172Arg</td>
<td>p.Gly350Arg</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Mackay, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>58</td>
<td>c.1048G&gt;C</td>
<td>C-1</td>
<td>Gly172Arg</td>
<td>p.Gly350Arg</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>59</td>
<td>c.1057G&gt;T</td>
<td>T-1</td>
<td>Gly175Cys</td>
<td>p.Gly353Cys</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td>(Wirtz, et al., 1993)</td>
<td></td>
</tr>
<tr class="even">
<td>59</td>
<td>c.1057G&gt;T</td>
<td>T-1</td>
<td>Gly175Cys</td>
<td>p.Gly353Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>59</td>
<td>c.1057G&gt;A</td>
<td>A-1</td>
<td>Gly175Ser</td>
<td>p.Gly353Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>60</td>
<td>c.1066G&gt;T</td>
<td>T-1</td>
<td>Gly178Cys</td>
<td>p.Gly356Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Valli, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>63</td>
<td>c.1094G&gt;T</td>
<td>T-2</td>
<td>Gly187Val</td>
<td>p.Gly356Val</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>63</td>
<td>c.1094G&gt;C</td>
<td>C-2</td>
<td>Gly187Ala</td>
<td>p.Gly365Ala</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="odd">
<td>64</td>
<td>c.1102G&gt;A</td>
<td>A-1</td>
<td>Gly190Ser</td>
<td>p.Gly368Ser</td>
<td>1</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>65</td>
<td>c.1111G&gt;A</td>
<td>A-1</td>
<td>Gly193Ser</td>
<td>p.Gly371Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="odd">
<td>67</td>
<td>c.1130G&gt;C</td>
<td>C-2</td>
<td>Gly199Ala</td>
<td>p.Gly377Ala</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>68</td>
<td>c.1138G&gt;T</td>
<td>T-1</td>
<td>Gly202Cys</td>
<td>p.Gly380Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>68</td>
<td>c.1139G&gt;T</td>
<td>T-2</td>
<td>Gly202Val</td>
<td>p.Gly380Val</td>
<td>0</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>69</td>
<td>c.1147G&gt;T</td>
<td>T-1</td>
<td>Gly205Cys</td>
<td>p.Gly383Cys</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td>(Byers, 1990)</td>
<td></td>
</tr>
<tr class="odd">
<td>69</td>
<td>c.1147G&gt;T</td>
<td>T-1</td>
<td>Gly205Cys</td>
<td>p.Gly383Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>69</td>
<td>c.1147G&gt;T</td>
<td>T-1</td>
<td>Gly205Cys</td>
<td>p.Gly383Cys</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>69</td>
<td>c.1147G&gt;A</td>
<td>A-1</td>
<td>Gly205Ser</td>
<td>p.Gly383Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Mottes</td>
</tr>
<tr class="even">
<td>71</td>
<td>c.1165G&gt;C</td>
<td>C-1</td>
<td>Gly211Arg</td>
<td>p.Gly389Arg</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Sztrolovics, et al., 1994)</td>
<td></td>
</tr>
<tr class="odd">
<td>71</td>
<td>c.1165G&gt;T</td>
<td>T-1</td>
<td>Gly211Cys</td>
<td>p.Gly389Cys</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td>(Wilcox, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>71</td>
<td>c.1165G&gt;T</td>
<td>T-1</td>
<td>Gly211Cys</td>
<td>p.Gly389Cys</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>71</td>
<td>c.1165G&gt;A</td>
<td>A-1</td>
<td>Gly211Ser</td>
<td>p.Gly389Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>72</td>
<td>c.1175G&gt;A</td>
<td>A-2</td>
<td>Gly214Glu</td>
<td>p.Gly392Glu</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>73</td>
<td>c.1183G&gt;A</td>
<td>A-1</td>
<td>Gly217Ser</td>
<td>p.Gly395Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>74</td>
<td>c.1192G&gt;T</td>
<td>T-1</td>
<td>Gly220Cys</td>
<td>p.Gly398Cys</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>74</td>
<td>c.1193G&gt;C</td>
<td>C-2</td>
<td>Gly220Ala</td>
<td>p.Gly398Ala</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Sarafova, et al., 1998)</td>
<td></td>
</tr>
<tr class="even">
<td>74</td>
<td>c.1193G&gt;C</td>
<td>C-2</td>
<td>Gly220Ala</td>
<td>p.Gly398Ala</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini</td>
</tr>
<tr class="odd">
<td>74</td>
<td>c.1193G&gt;A</td>
<td>A-2</td>
<td>Gly220Asp</td>
<td>p.Gly398Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Culbert, et al., 1995)</td>
<td></td>
</tr>
<tr class="even">
<td>74</td>
<td>c.1193G&gt;A</td>
<td>A-2</td>
<td>Gly220Asp</td>
<td>p.Gly398Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>75</td>
<td>c.1201G&gt;T</td>
<td>T-1</td>
<td>Gly223Cys</td>
<td>p.Gly401Cys</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Byers, 1990)</td>
<td></td>
</tr>
<tr class="even">
<td>75</td>
<td>c.1201G&gt;T</td>
<td>T-1</td>
<td>Gly223Cys</td>
<td>p.Gly401Cys</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Cohen, et al., 1996a)</td>
<td></td>
</tr>
<tr class="odd">
<td>75</td>
<td>c.1201G&gt;T</td>
<td>T-1</td>
<td>Gly223Cys</td>
<td>p.Gly401Cys</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>75</td>
<td>c.1202G&gt;A</td>
<td>A-2</td>
<td>Gly223Asp</td>
<td>p.Gly401Asp</td>
<td>2</td>
<td>II US</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>76</td>
<td>c.1210G&gt;T</td>
<td>T-1</td>
<td>Gly226Cys</td>
<td>p.Gly404Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Wilcox, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>76</td>
<td>c.1210G&gt;A</td>
<td>A-1</td>
<td>Gly226Ser</td>
<td>p.Gly404Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>77</td>
<td>c.1219G&gt;A</td>
<td>A-1</td>
<td>Gly229Ser</td>
<td>p.Gly407Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Ward, et al., 2001)</td>
<td></td>
</tr>
<tr class="even">
<td>77</td>
<td>c.1219G&gt;T</td>
<td>T-1</td>
<td>Gly229Cys</td>
<td>p.Gly407Cys</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>78</td>
<td>c.1228G&gt;A</td>
<td>A-1</td>
<td>Gly232Ser</td>
<td>p.Gly410Ser</td>
<td>1.5</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>79</td>
<td>c.1238G&gt;C</td>
<td>C-2</td>
<td>Gly235Ala</td>
<td>p.Gly413Ala</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="odd">
<td>82</td>
<td>c.1264G&gt;T</td>
<td>T-1</td>
<td>Gly244Cys</td>
<td>p.Gly422Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Fertala, et al., 1993)</td>
<td></td>
</tr>
<tr class="even">
<td>82</td>
<td>c.1265G&gt;C</td>
<td>C-2</td>
<td>Gly244Ala</td>
<td>p.Gly422Ala</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>83</td>
<td>c.1273G&gt;A</td>
<td>A-1</td>
<td>Gly247Ser</td>
<td>p.Gly425Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>83</td>
<td>c.1273G&gt;A</td>
<td>A-1</td>
<td>Gly247Ser</td>
<td>p.Gly425Ser</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td>(Mackay, et al., 1993a)</td>
<td></td>
</tr>
<tr class="odd">
<td>83</td>
<td>c.1273G&gt;A</td>
<td>A-1</td>
<td>Gly247Ser</td>
<td>p.Gly425Ser</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>83</td>
<td>c.1273G&gt;A</td>
<td>A-1</td>
<td>Gly247Ser</td>
<td>p.Gly425Ser</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>84</td>
<td>c.1282G&gt;T</td>
<td>T-1</td>
<td>Gly250Cys</td>
<td>p.Gly428Cys</td>
<td>2</td>
<td>II US</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>85</td>
<td>c.1292G&gt;T</td>
<td>T-2</td>
<td>Gly253Val</td>
<td>p.Gly431Val</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>86</td>
<td>c.1301G&gt;T</td>
<td>T-2</td>
<td>Gly256Val</td>
<td>p.Gly434Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Patterson, et al., 1989)</td>
<td></td>
</tr>
<tr class="even">
<td>93</td>
<td>c.1363G&gt;T</td>
<td>T-1</td>
<td>Gly277Cys</td>
<td>p.Gly455Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>95</td>
<td>c.1381G&gt;A</td>
<td>A-1</td>
<td>Gly283Ser</td>
<td>p.Gly461Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>96</td>
<td>c.1390G&gt;A</td>
<td>A-1</td>
<td>Gly286Arg</td>
<td>p.Gly464Arg</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Barnes</td>
</tr>
<tr class="odd">
<td>96</td>
<td>c.1391G&gt;A</td>
<td>A-2</td>
<td>Gly286Glu</td>
<td>p.Gly464Glu</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="even">
<td>96</td>
<td>c.1391G&gt;A</td>
<td>A-2</td>
<td>Gly286Glu</td>
<td>p.Gly464Glu</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>100</td>
<td>c.1426G&gt;C</td>
<td>C-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Byers, et al., 1991)</td>
<td></td>
</tr>
<tr class="even">
<td>100</td>
<td>c.1426G&gt;C</td>
<td>C-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>100</td>
<td>c.1426G&gt;A</td>
<td>A-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II US</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>100</td>
<td>c.1426G&gt;A</td>
<td>A-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>100</td>
<td>c.1426G&gt;A</td>
<td>A-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>100</td>
<td>c.1426G&gt;A</td>
<td>A-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>100</td>
<td>c.1426G&gt;A</td>
<td>A-1</td>
<td>Gly298Arg</td>
<td>p.Gly476Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>102</td>
<td>c.1444G&gt;A</td>
<td>A-1</td>
<td>Gly304Arg</td>
<td>p.Gly482Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>102</td>
<td>c.1444G&gt;A</td>
<td>A-1</td>
<td>Gly304Arg</td>
<td>p.Gly482Arg</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>102</td>
<td>c.1445G&gt;C</td>
<td>C-2</td>
<td>Gly304Ala</td>
<td>p.Gly482Ala</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Milgrom</td>
</tr>
<tr class="odd">
<td>105</td>
<td>c.1471G&gt;T</td>
<td>T-1</td>
<td>Gly313Cys</td>
<td>p.Gly491Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="even">
<td>109</td>
<td>c.1507G&gt;T</td>
<td>T-1</td>
<td>Gly325Cys</td>
<td>p.Gly503Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>117</td>
<td>c.1579G&gt;T</td>
<td>T-1</td>
<td>Gly349Cys</td>
<td>p.Gly527Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Cohen, et al., 1996b)</td>
<td></td>
</tr>
<tr class="even">
<td>117</td>
<td>c.1579G&gt;T</td>
<td>T-1</td>
<td>Gly349Cys</td>
<td>p.Gly527Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Sarafova, et al., 1998)</td>
<td></td>
</tr>
<tr class="odd">
<td>117</td>
<td>c.1580G&gt;C</td>
<td>C-2</td>
<td>Gly349Ala</td>
<td>p.Gly527Ala</td>
<td>0</td>
<td></td>
<td>I</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;T</td>
<td>T-1</td>
<td>Gly352Cys</td>
<td>p.Gly530Cys</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Cohen, et al., 1996a)</td>
<td></td>
</tr>
<tr class="odd">
<td>118</td>
<td>c.1588G&gt;T</td>
<td>T-1</td>
<td>Gly352Cys</td>
<td>p.Gly530Cys</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;T</td>
<td>T-1</td>
<td>Gly352Cys</td>
<td>p.Gly530Cys</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>IVB</td>
<td>(Bateman, et al., 1992)</td>
<td></td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>IV</td>
<td>(Marini, et al., 1993a)</td>
<td></td>
</tr>
<tr class="odd">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td>(Marini, et al., 1993b)</td>
<td></td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Mackay, et al., 1993a)</td>
<td></td>
</tr>
<tr class="even">
<td>118</td>
<td>c.1588G&gt;A</td>
<td>A-1</td>
<td>Gly352Ser</td>
<td>p.Gly530Ser</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>119</td>
<td>c.1597G&gt;T</td>
<td>T-1</td>
<td>Gly355Cys</td>
<td>p.Gly533Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>119</td>
<td>c.1598G&gt;A</td>
<td>A-2</td>
<td>Gly355Asp</td>
<td>p.Gly533Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Raghunath, et al., 1994)</td>
<td></td>
</tr>
<tr class="odd">
<td>126</td>
<td>c.1661G&gt;C</td>
<td>C-2</td>
<td>Gly376Ala</td>
<td>p.Gly554Ala</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;C</td>
<td>C-1</td>
<td>Gly382Arg</td>
<td>p.Gly560Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Cohen-Solal, et al., 1996)</td>
<td></td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Mackay, et al., 1993a)</td>
<td></td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;A</td>
<td>A-1</td>
<td>Gly382Ser</td>
<td>p.Gly560Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;T</td>
<td>T-1</td>
<td>Gly382Cys</td>
<td>p.Gly560Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Byers, 1990)</td>
<td></td>
</tr>
<tr class="even">
<td>128</td>
<td>c.1678G&gt;T</td>
<td>T-1</td>
<td>Gly382Cys</td>
<td>p.Gly560Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>128</td>
<td>c.1678G&gt;T</td>
<td>T-1</td>
<td>Gly382Cys</td>
<td>p.Gly560Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>130</td>
<td>c.1696G&gt;A</td>
<td>A-1</td>
<td>Gly388Arg</td>
<td>p.Gly566Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Gajko-Galicka, 2002)</td>
<td></td>
</tr>
<tr class="odd">
<td>130</td>
<td>c.1696G&gt;A</td>
<td>A-1</td>
<td>Gly388Arg</td>
<td>p.Gly566Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="even">
<td>130</td>
<td>c.1696G&gt;A</td>
<td>A-1</td>
<td>Gly388Arg</td>
<td>p.Gly566Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Mottes</td>
</tr>
<tr class="odd">
<td>130</td>
<td>c.1696G&gt;A</td>
<td>A-1</td>
<td>Gly388Arg</td>
<td>p.Gly566Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>130</td>
<td>c.1696G&gt;C</td>
<td>C-1</td>
<td>Gly388Arg</td>
<td>p.Gly566Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Lund</td>
</tr>
<tr class="odd">
<td>131</td>
<td>c.1705G&gt;C</td>
<td>C-1</td>
<td>Gly391Arg</td>
<td>p.Gly569Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Bateman, et al., 1987)</td>
<td></td>
</tr>
<tr class="even">
<td>137</td>
<td>c.1759G&gt;A</td>
<td>A-1</td>
<td>Gly409Ser</td>
<td>p.Gly587Ser</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Lund</td>
</tr>
<tr class="odd">
<td>137</td>
<td>c.1760G&gt;C</td>
<td>C-2</td>
<td>Gly409Ala</td>
<td>p.Gly587Ala</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="even">
<td>139</td>
<td>c.1777G&gt;T</td>
<td>T-1</td>
<td>Gly415Cys</td>
<td>p.Gly593Cys</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td>(Nicholls, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>139</td>
<td>c.1777G&gt;T</td>
<td>T-1</td>
<td>Gly415Cys</td>
<td>p.Gly593Cys</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>139</td>
<td>c.1777G&gt;A</td>
<td>A-1</td>
<td>Gly415Ser</td>
<td>p.Gly593Ser</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td>(Bateman, et al., 1992)</td>
<td></td>
</tr>
<tr class="odd">
<td>139</td>
<td>c.1777G&gt;A</td>
<td>A-1</td>
<td>Gly415Ser</td>
<td>p.Gly593Cys</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="even">
<td>139</td>
<td>c.1777G&gt;A</td>
<td>A-1</td>
<td>Gly415Ser</td>
<td>p.Gly593Cys</td>
<td>1</td>
<td>II/III</td>
<td></td>
<td>(Mottes, et al., 1993)</td>
<td></td>
</tr>
<tr class="odd">
<td>139</td>
<td>c.1778G&gt;A</td>
<td>A-2</td>
<td>Gly415Asp</td>
<td>p.Gly593Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>147</td>
<td>c.1849G&gt;A</td>
<td>A-1</td>
<td>Gly439Arg</td>
<td>p.Gly617Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>150</td>
<td>c.1876G&gt;T</td>
<td>T-1</td>
<td>Gly448Cys</td>
<td>p.Gly626Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Pepin, et al., 1997)</td>
<td></td>
</tr>
<tr class="even">
<td>150</td>
<td>c.1876G&gt;T</td>
<td>T-1</td>
<td>Gly448Cys</td>
<td>p.Gly626Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>150</td>
<td>c.1876G&gt;T</td>
<td>T-1</td>
<td>Gly448Cys</td>
<td>p.Gly626Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>150</td>
<td>c.1876G&gt;A</td>
<td>A-1</td>
<td>Gly448Ser</td>
<td>p.Gly626Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Pepin, et al., 1997)</td>
<td></td>
</tr>
<tr class="odd">
<td>150</td>
<td>c.1876G&gt;A</td>
<td>A-1</td>
<td>Gly448Ser</td>
<td>p.Gly626Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>150</td>
<td>c.1876G&gt;A</td>
<td>A-1</td>
<td>Gly448Ser</td>
<td>p.Gly626Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="odd">
<td>151</td>
<td>c.1885G&gt;A</td>
<td>A-1</td>
<td>Gly451Ser</td>
<td>p.Gly626Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Pepin, et al., 1997)</td>
<td></td>
</tr>
<tr class="even">
<td>151</td>
<td>c.1885G&gt;A</td>
<td>A-1</td>
<td>Gly451Ser</td>
<td>p.Gly626Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>153</td>
<td>c.1903G&gt;A</td>
<td>A-1</td>
<td>Gly457Arg</td>
<td>p.Gly635Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>154</td>
<td>c.1913G&gt;T</td>
<td>T-2</td>
<td>Gly460Val</td>
<td>p.Gly638Val</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="odd">
<td>158</td>
<td>c.1948G&gt;C</td>
<td>C-1</td>
<td>Gly472Arg</td>
<td>p.Gly650Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>160</td>
<td>c.1966G&gt;A</td>
<td>A-1</td>
<td>Gly478Ser</td>
<td>p.Gly656Ser</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Mottes, et al., 1998)</td>
<td></td>
</tr>
<tr class="odd">
<td>161</td>
<td>c.1976G&gt;C</td>
<td>C-2</td>
<td>Gly481Ala</td>
<td>p.Gly659Ala</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Benusiene and Kucinskas, 2003)</td>
<td></td>
</tr>
<tr class="even">
<td>170</td>
<td>c.2057G&gt;T</td>
<td>T-2</td>
<td>Gly508Val</td>
<td>p.Gly686Val</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>171</td>
<td>c.2065G&gt;A</td>
<td>A-1</td>
<td>Gly511Ser</td>
<td>p.Gly689Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Galicka, et al., 2003)</td>
<td></td>
</tr>
<tr class="even">
<td>175</td>
<td>c.2101G&gt;T</td>
<td>T-1</td>
<td>Gly523Cys</td>
<td>p.Gly701Cys</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Sarafova, et al., 1998)</td>
<td></td>
</tr>
<tr class="odd">
<td>175</td>
<td>c.2101G&gt;A</td>
<td>A-1</td>
<td>Gly523Ser</td>
<td>p.Gly701Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Trummer</td>
</tr>
<tr class="even">
<td>176</td>
<td>c.2110G&gt;T</td>
<td>T-1</td>
<td>Gly526Cys</td>
<td>p.Gly704Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Starman, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>176</td>
<td>c.2110G&gt;T</td>
<td>T-1</td>
<td>Gly526Cys</td>
<td>p.Gly704Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Pepin, et al., 1997)</td>
<td></td>
</tr>
<tr class="even">
<td>176</td>
<td>c.2110G&gt;T</td>
<td>T-1</td>
<td>Gly526Cys</td>
<td>p.Gly704Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>176</td>
<td>c.2110G&gt;T</td>
<td>T-1</td>
<td>Gly526Cys</td>
<td>p.Gly704Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>176</td>
<td>c.2110G&gt;T</td>
<td>T-1</td>
<td>Gly526Cys</td>
<td>p.Gly704Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>176</td>
<td>c.2110G&gt;A</td>
<td>A-1</td>
<td>Gly526Ser</td>
<td>p.Gly704Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Ward, et al., 2001)</td>
<td></td>
</tr>
<tr class="even">
<td>176</td>
<td>c.2110G&gt;A</td>
<td>A-1</td>
<td>Gly526Ser</td>
<td>p.Gly704Ser</td>
<td>1</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>176</td>
<td>c.2110G&gt;A</td>
<td>A-1</td>
<td>Gly526Ser</td>
<td>p.Gly704Ser</td>
<td>1</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>176</td>
<td>c.2110G&gt;A</td>
<td>A-1</td>
<td>Gly526Ser</td>
<td>p.Gly704Ser</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>181</td>
<td>c.2155G&gt;A</td>
<td>A-1</td>
<td>Gly541Ser</td>
<td>p.Gly719Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Mackay, et al., 1993a)</td>
<td></td>
</tr>
<tr class="even">
<td>181</td>
<td>c.2155G&gt;A</td>
<td>A-1</td>
<td>Gly541Ser</td>
<td>p.Gly719Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>181</td>
<td>c.2155G&gt;A</td>
<td>A-1</td>
<td>Gly541Ser</td>
<td>p.Gly719Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>181</td>
<td>c.2155G&gt;A</td>
<td>A-1</td>
<td>Gly541Ser</td>
<td>p.Gly719Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>181</td>
<td>c.2155G&gt;A</td>
<td>A-1</td>
<td>Gly541Ser</td>
<td>p.Gly719Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Lund</td>
</tr>
<tr class="even">
<td>181</td>
<td>c.2156G&gt;A</td>
<td>A-2</td>
<td>Gly541Asp</td>
<td>p.Gly719Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Zhuang, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>184</td>
<td>c.2182G&gt;A</td>
<td>A-1</td>
<td>Gly550Arg</td>
<td>p.Gly728Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Wallis, et al., 1990b)</td>
<td></td>
</tr>
<tr class="even">
<td>184</td>
<td>c.2182G&gt;A</td>
<td>A-1</td>
<td>Gly550Arg</td>
<td>p.Gly728Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>187</td>
<td>c.2209G&gt;T</td>
<td>T-1</td>
<td>Gly559Cys</td>
<td>p.Gly737Cys</td>
<td>1.5</td>
<td></td>
<td>IB</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>187</td>
<td>c.2209G&gt;T</td>
<td>T-1</td>
<td>Gly559Cys</td>
<td>p.Gly737Cys</td>
<td>1.5</td>
<td></td>
<td>I</td>
<td>(Pallos, et al., 2001)</td>
<td></td>
</tr>
<tr class="odd">
<td>187</td>
<td>c.2209G&gt;T</td>
<td>T-1</td>
<td>Gly559Cys</td>
<td>p.Gly737Cys</td>
<td>1.5</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>187</td>
<td>c.2210G&gt;A</td>
<td>A-2</td>
<td>Gly559Asp</td>
<td>p.Gly737Asp</td>
<td>1.5</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1990c)</td>
<td></td>
</tr>
<tr class="odd">
<td>187</td>
<td>c.2210G&gt;A</td>
<td>A-2</td>
<td>Gly559Asp</td>
<td>p.Gly737Asp</td>
<td>1.5</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>189</td>
<td>c.2227G&gt;A</td>
<td>A-1</td>
<td>Gly565Ser</td>
<td>p.Gly743Ser</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Bateman, et al., 1992)</td>
<td></td>
</tr>
<tr class="odd">
<td>189</td>
<td>c.2228G&gt;T</td>
<td>T-2</td>
<td>Gly565Val</td>
<td>p.Gly743Val</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Mackay, et al., 1993b)</td>
<td></td>
</tr>
<tr class="even">
<td>193</td>
<td>c.2263G&gt;A</td>
<td>A-1</td>
<td>Gly577Ser</td>
<td>p.Gly755Ser</td>
<td>0</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>194</td>
<td>c.2272G&gt;T</td>
<td>T-1</td>
<td>Gly580Cys</td>
<td>p.Gly758Cys</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>196</td>
<td>c.2291G&gt;T</td>
<td>T-2</td>
<td>Gly586Val</td>
<td>p.Gly764Val</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Lund, et al., 1997b)</td>
<td></td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Forlino, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td>(Zhuang, et al., 1996a)</td>
<td></td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1997a)</td>
<td></td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Ries-Levavi, et al., 2004)</td>
<td></td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Lund</td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td></td>
<td>Lund</td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="odd">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="even">
<td>197</td>
<td>c.2299G&gt;A</td>
<td>A-1</td>
<td>Gly589Ser</td>
<td>p.Gly767Ser</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="odd">
<td>198</td>
<td>c.2308G&gt;T</td>
<td>T-1</td>
<td>Gly592Cys</td>
<td>p.Gly770Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>198</td>
<td>c.2308G&gt;T</td>
<td>T-1</td>
<td>Gly592Cys</td>
<td>p.Gly770Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>199</td>
<td>c.2317G&gt;A</td>
<td>A-1</td>
<td>Gly595Ser</td>
<td>p.Gly773Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>200</td>
<td>c.2326G&gt;A</td>
<td>A-1</td>
<td>Gly598Ser</td>
<td>p.Gly776Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Westerhausen, et al., 1990)</td>
<td></td>
</tr>
<tr class="odd">
<td>201</td>
<td>c.2335G&gt;A</td>
<td>A-1</td>
<td>Gly601Ser</td>
<td>p.Gly779Ser</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td>(Lund, et al., 1997a)</td>
<td></td>
</tr>
<tr class="even">
<td>204</td>
<td>c.2362G&gt;T</td>
<td>T-1</td>
<td>Gly610Cys</td>
<td>p.Gly788Cys</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="odd">
<td>204</td>
<td>c.2362G&gt;T</td>
<td>T-1</td>
<td>Gly610Cys</td>
<td>p.Gly788Cys</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>204</td>
<td>c.2362G&gt;T</td>
<td>T-1</td>
<td>Gly610Cys</td>
<td>p.Gly788Cys</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>204</td>
<td>c.2362G&gt;A</td>
<td>A-1</td>
<td>Gly610Ser</td>
<td>p.Gly788Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>204</td>
<td>c.2362G&gt;A</td>
<td>A-1</td>
<td>Gly610Ser</td>
<td>p.Gly788Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Trummer and Eyre</td>
</tr>
<tr class="odd">
<td>204</td>
<td>c.2362G&gt;A</td>
<td>A-1</td>
<td>Gly610Ser</td>
<td>p.Gly788Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>204</td>
<td>c.2362G&gt;A</td>
<td>A-1</td>
<td>Gly610Ser</td>
<td>p.Gly788Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="odd">
<td>211</td>
<td>c.2425G&gt;A</td>
<td>A-1</td>
<td>Gly631Ser</td>
<td>p.Gly809Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Westerhausen, et al., 1990)</td>
<td></td>
</tr>
<tr class="even">
<td>211</td>
<td>c.2425G&gt;A</td>
<td>A-1</td>
<td>Gly631Ser</td>
<td>p.Gly809Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>211</td>
<td>c.2425G&gt;A</td>
<td>A-1</td>
<td>Gly631Ser</td>
<td>p.Gly809Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>213</td>
<td>c.2444G&gt;T</td>
<td>T-2</td>
<td>Gly637Val</td>
<td>p.Gly815Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>213</td>
<td>c.2444G&gt;T</td>
<td>T-2</td>
<td>Gly637Val</td>
<td>p.Gly815Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Tsuneyoshi, et al., 1991)</td>
<td></td>
</tr>
<tr class="even">
<td>213</td>
<td>c.2444G&gt;C</td>
<td>C-2</td>
<td>Gly637Ala</td>
<td>p.Gly815Ala</td>
<td>2</td>
<td></td>
<td>I</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>215</td>
<td>c.2461G&gt;A</td>
<td>A-1</td>
<td>Gly643Ser</td>
<td>p.Gly821Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1997c)</td>
<td></td>
</tr>
<tr class="even">
<td>215</td>
<td>c.2461G&gt;A</td>
<td>A-1</td>
<td>Gly643Ser</td>
<td>p.Gly821Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Moriarty</td>
</tr>
<tr class="odd">
<td>215</td>
<td>c.2461G&gt;A</td>
<td>A-1</td>
<td>Gly643Ser</td>
<td>p.Gly821Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Lund</td>
</tr>
<tr class="even">
<td>215</td>
<td>c.2461G&gt;A</td>
<td>A-1</td>
<td>Gly643Ser</td>
<td>p.Gly821Ser</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>215</td>
<td>c.2461G&gt;C</td>
<td>C-1</td>
<td>Gly643Arg</td>
<td>p.Gly821Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>216</td>
<td>c.2470G&gt;T</td>
<td>T-1</td>
<td>Gly646Cys</td>
<td>p.Gly824Cys</td>
<td>0</td>
<td></td>
<td>I</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="odd">
<td>219</td>
<td>c.2498G&gt;A</td>
<td>A-2</td>
<td>Gly655Asp</td>
<td>p.Gly833Asp</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>219</td>
<td>c.2498G&gt;A</td>
<td>A-2</td>
<td>Gly655Asp</td>
<td>p.Gly833Asp</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>219</td>
<td>c.2498G&gt;T</td>
<td>T-2</td>
<td>Gly655Val</td>
<td>p.Gly833Ala</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>220</td>
<td>c.2507G&gt;C</td>
<td>C-2</td>
<td>Gly658Ala</td>
<td>p.Gly836Ala</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="odd">
<td>221</td>
<td>c.2515G&gt;A</td>
<td>A-1</td>
<td>Gly661Ser</td>
<td>p.Gly839Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Nuytinck, et al., 1996)</td>
<td></td>
</tr>
<tr class="even">
<td>221</td>
<td>c.2515G&gt;A</td>
<td>A-1</td>
<td>Gly661Ser</td>
<td>p.Gly839Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>221</td>
<td>c.2516G&gt;A</td>
<td>A-2</td>
<td>Gly661Asp</td>
<td>p.Gly839Asp</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>222</td>
<td>c.2524G&gt;C</td>
<td>C-1</td>
<td>Gly664Arg</td>
<td>p.Gly842Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Culbert, et al., 1995)</td>
<td></td>
</tr>
<tr class="odd">
<td>222</td>
<td>c.2524G&gt;C</td>
<td>C-1</td>
<td>Gly664Arg</td>
<td>p.Gly842Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>222</td>
<td>c.2525G&gt;A</td>
<td>A-1</td>
<td>Gly664Asp</td>
<td>p.Gly842Asp</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>223</td>
<td>c.2533G&gt;A</td>
<td>A-1</td>
<td>Gly667Arg</td>
<td>p.Gly845Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Bateman, et al., 1988)</td>
<td></td>
</tr>
<tr class="even">
<td>223</td>
<td>c.2533G&gt;A</td>
<td>A-1</td>
<td>Gly667Arg</td>
<td>p.Gly845Arg</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>225</td>
<td>c.2552G&gt;A</td>
<td>A-2</td>
<td>Gly673Asp</td>
<td>p.Gly851Asp</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1990c)</td>
<td></td>
</tr>
<tr class="even">
<td>225</td>
<td>c.2552G&gt;A</td>
<td>A-2</td>
<td>Gly673Asp</td>
<td>p.Gly851Asp</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>226</td>
<td>c.2560G&gt;A</td>
<td>A-1</td>
<td>Gly676Ser</td>
<td>p.Gly854Ser</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>226</td>
<td>c.2560G&gt;A</td>
<td>A-1</td>
<td>Gly676Ser</td>
<td>p.Gly854Ser</td>
<td>1</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>227</td>
<td>c.2569G&gt;T</td>
<td>T-1</td>
<td>Gly679Cys</td>
<td>p.Gly857Cys</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>228</td>
<td>c.2579G&gt;C</td>
<td>C-2</td>
<td>Gly682Ala</td>
<td>p.Gly860Ala</td>
<td>0</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="odd">
<td>230</td>
<td>c.2596G&gt;T</td>
<td>T-1</td>
<td>Gly688Cys</td>
<td>p.Gly866Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Ward, et al., 2001)</td>
<td></td>
</tr>
<tr class="even">
<td>230</td>
<td>c.2596G&gt;T</td>
<td>T-1</td>
<td>Gly688Cys</td>
<td>p.Gly866Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>230</td>
<td>c.2596G&gt;T</td>
<td>T-1</td>
<td>Gly688Cys</td>
<td>p.Gly866Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>230</td>
<td>c.2596G&gt;T</td>
<td>T-1</td>
<td>Gly688Cys</td>
<td>p.Gly866Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Horwitz, et al., 1999)</td>
<td></td>
</tr>
<tr class="even">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1999)</td>
<td></td>
</tr>
<tr class="odd">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini</td>
</tr>
<tr class="even">
<td>230</td>
<td>c.2596G&gt;A</td>
<td>A-1</td>
<td>Gly688Ser</td>
<td>p.Gly866Ser</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Marini and Milgrom</td>
</tr>
<tr class="odd">
<td>231</td>
<td>c.2605G&gt;T</td>
<td>T-1</td>
<td>Gly691Cys</td>
<td>p.Gly869Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Steinmann, et al., 1991)</td>
<td></td>
</tr>
<tr class="even">
<td>233</td>
<td>c.2623G&gt;A</td>
<td>A-1</td>
<td>Gly697Ser</td>
<td>p.Gly875Ser</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>234</td>
<td>c.2632G&gt;A</td>
<td>A-1</td>
<td>Gly700Ser</td>
<td>p.Gly878Ser</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>237</td>
<td>c.2659G&gt;A</td>
<td>A-1</td>
<td>Gly709Ser</td>
<td>p.Gly887Ser</td>
<td>1.5</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>240</td>
<td>c.2686G&gt;T</td>
<td>T-1</td>
<td>Gly718Cys</td>
<td>p.Gly896Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>240</td>
<td>c.2686G&gt;T</td>
<td>T-1</td>
<td>Gly718Cys</td>
<td>p.Gly896Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Starman, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>247</td>
<td>c.2749G&gt;A</td>
<td>A-2</td>
<td>Gly739Glu</td>
<td>p.Gly917Glu</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>250</td>
<td>c.2776G&gt;T</td>
<td>T-1</td>
<td>Gly748Cys</td>
<td>p.Gly926Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Vogel, et al., 1987)</td>
<td></td>
</tr>
<tr class="odd">
<td>256</td>
<td>c.2830G&gt;T</td>
<td>T-1</td>
<td>Gly766Cys</td>
<td>p.Gly944Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>257</td>
<td>c.2839G&gt;T</td>
<td>T-1</td>
<td>Gly769Cys</td>
<td>p.Gly947Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>258</td>
<td>c.2848G&gt;A</td>
<td>A-1</td>
<td>Gly772Arg</td>
<td>p.Gly950Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>262</td>
<td>c.2885G&gt;A</td>
<td>A-2</td>
<td>Gly784Asp</td>
<td>p.Gly962Asp</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>266</td>
<td>c.2921G&gt;A</td>
<td>A-2</td>
<td>Gly796Arg</td>
<td>p.Gly974Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>De Paepe</td>
</tr>
<tr class="even">
<td>268</td>
<td>c.2939G&gt;T</td>
<td>T-2</td>
<td>Gly802Val</td>
<td>p.Gly980Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Bonaventure, et al., 1992)</td>
<td></td>
</tr>
<tr class="odd">
<td>275</td>
<td>c.3001G&gt;T</td>
<td>T-1</td>
<td>Gly823Cys</td>
<td>p.Gly1001Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>278</td>
<td>c.3028G&gt;A</td>
<td>A-1</td>
<td>Gly832Ser</td>
<td>p.Gly1010ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Marini, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>282</td>
<td>c.3064G&gt;A</td>
<td>A-1</td>
<td>Gly844Ser</td>
<td>p.Gly1022Ser</td>
<td>0</td>
<td></td>
<td>III</td>
<td>(Pack, et al., 1989)</td>
<td></td>
</tr>
<tr class="even">
<td>282</td>
<td>c.3065G&gt;C</td>
<td>C-2</td>
<td>Gly844Ala</td>
<td>p.Gly1022Ala</td>
<td>0</td>
<td></td>
<td>I/IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>282</td>
<td>c.3065G&gt;T</td>
<td>T-2</td>
<td>Gly844Val</td>
<td>p.Gly1022Val</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Korkko, et al., 1997)</td>
<td></td>
</tr>
<tr class="even">
<td>282</td>
<td>c.3065G&gt;T</td>
<td>T-2</td>
<td>Gly844Val</td>
<td>p.Gly1022Val</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="odd">
<td>282</td>
<td>c.3065G&gt;T</td>
<td>T-2</td>
<td>Gly844Val</td>
<td>p.Gly1022Val</td>
<td>0</td>
<td>II</td>
<td></td>
<td></td>
<td>Cohn, Krakow and King</td>
</tr>
<tr class="even">
<td>283</td>
<td>c.3073G&gt;A</td>
<td>A-1</td>
<td>Gly847Arg</td>
<td>p.Gly1025Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>283</td>
<td>c.3073G&gt;A</td>
<td>A-1</td>
<td>Gly847Arg</td>
<td>p.Gly1025Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Wallis, et al., 1990a)</td>
<td></td>
</tr>
<tr class="even">
<td>287</td>
<td>c.3082G&gt;A</td>
<td>A-1</td>
<td>Gly850Ser</td>
<td>p.Gly1028Ser</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Virdi, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Namikawa, et al., 1995)</td>
<td></td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Zhuang, et al., 1996a)</td>
<td></td>
</tr>
<tr class="even">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1997c)</td>
<td></td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="even">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>288</td>
<td>c.3118G&gt;A</td>
<td>A-1</td>
<td>Gly862Ser</td>
<td>p.Gly1040Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>290</td>
<td>c.3136G&gt;A</td>
<td>A-1</td>
<td>Gly868Ser</td>
<td>p.Gly1046Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>290</td>
<td>c.3136G&gt;T</td>
<td>T-1</td>
<td>Gly868Cys</td>
<td>p.Gly1046Cys</td>
<td>2</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>290</td>
<td>c.3136G&gt;T</td>
<td>T-1</td>
<td>Gly868Cys</td>
<td>p.Gly1046Cys</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Pepin, et al., 1997)</td>
<td></td>
</tr>
<tr class="odd">
<td>291</td>
<td>c.3145G&gt;A</td>
<td>A-1</td>
<td>Gly871Ser</td>
<td>p.Gly1049Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1997c)</td>
<td></td>
</tr>
<tr class="even">
<td>292</td>
<td>c.3154G&gt;A</td>
<td>A-1</td>
<td>Gly874Ser</td>
<td>p.Gly1052Ser</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>294</td>
<td>c.3172G&gt;A</td>
<td>A-1</td>
<td>Gly880Ser</td>
<td>p.Gly1058Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td>(Lund, et al., 1997c)</td>
<td></td>
</tr>
<tr class="even">
<td>294</td>
<td>c.3172G&gt;A</td>
<td>A-1</td>
<td>Gly880Ser</td>
<td>p.Gly1058Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Trummer</td>
</tr>
<tr class="odd">
<td>295</td>
<td>c.3181G&gt;A</td>
<td>A-1</td>
<td>Gly883Ser</td>
<td>p.Gly1061Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td>(Lightfoot, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>295</td>
<td>c.3181G&gt;A</td>
<td>A-1</td>
<td>Gly883Ser</td>
<td>p.Gly1061Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>295</td>
<td>c.3182G&gt;A</td>
<td>A-2</td>
<td>Gly883Asp</td>
<td>p.Gly1061Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1990a)</td>
<td></td>
</tr>
<tr class="even">
<td>296</td>
<td>c.3191G&gt;C</td>
<td>C-2</td>
<td>Gly886Ala</td>
<td>p.Gly1064Ala</td>
<td>0</td>
<td></td>
<td>IV</td>
<td></td>
<td>Trummer</td>
</tr>
<tr class="odd">
<td>300</td>
<td>c.3226G&gt;A</td>
<td>A-1</td>
<td>Gly898Ser</td>
<td>p.Gly1076Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td>(Lund, et al., 1997c)</td>
<td></td>
</tr>
<tr class="even">
<td>300</td>
<td>c.3226G&gt;A</td>
<td>A-1</td>
<td>Gly898Ser</td>
<td>p.Gly1076Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>300</td>
<td>c.3226G&gt;A</td>
<td>A-1</td>
<td>Gly898Ser</td>
<td>p.Gly1076Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Nishioka</td>
</tr>
<tr class="even">
<td>300</td>
<td>c.3226G&gt;A</td>
<td>A-1</td>
<td>Gly898Ser</td>
<td>p.Gly1076Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="odd">
<td>300</td>
<td>c.3226G&gt;A</td>
<td>A-1</td>
<td>Gly898Ser</td>
<td>p.Gly1076Ser</td>
<td>1</td>
<td></td>
<td>III/IV</td>
<td></td>
<td>Marini and Barnes</td>
</tr>
<tr class="even">
<td>300</td>
<td>c.3226G&gt;T</td>
<td>T-1</td>
<td>Gly898Cys</td>
<td>p.Gly1076Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>301</td>
<td>c.3235G&gt;A</td>
<td>A-1</td>
<td>Gly901Ser</td>
<td>p.Gly1079Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>301</td>
<td>c.3235G&gt;A</td>
<td>A-1</td>
<td>Gly901Ser</td>
<td>p.Gly1079Ser</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Mottes, et al., 1992)</td>
<td></td>
</tr>
<tr class="odd">
<td>301</td>
<td>c.3235G&gt;A</td>
<td>A-1</td>
<td>Gly901Ser</td>
<td>p.Gly1079Ser</td>
<td>2</td>
<td></td>
<td>I</td>
<td>(Hartikka, et al., 2004)</td>
<td></td>
</tr>
<tr class="even">
<td>301</td>
<td>c.3235G&gt;A</td>
<td>A-1</td>
<td>Gly901Ser</td>
<td>p.Gly1079Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="odd">
<td>301</td>
<td>c.3235G&gt;A</td>
<td>A-1</td>
<td>Gly901Ser</td>
<td>p.Gly1079Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Marini and Milgrom</td>
</tr>
<tr class="even">
<td>302</td>
<td>c.3244G&gt;T</td>
<td>T-1</td>
<td>Gly904Cys</td>
<td>p.Gly1082Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Constantinou, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>303</td>
<td>c.3253G&gt;A</td>
<td>A-1</td>
<td>Gly907Ser</td>
<td>p.Gly1085Ser</td>
<td>2</td>
<td></td>
<td>IV</td>
<td></td>
<td>Nuytinck and De Paepe</td>
</tr>
<tr class="even">
<td>304</td>
<td>c.3263G&gt;C</td>
<td>C-2</td>
<td>Gly910Ala</td>
<td>p.Gly1088Ala</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Valli, et al., 1993a)</td>
<td></td>
</tr>
<tr class="odd">
<td>305</td>
<td>c.3271G&gt;A</td>
<td>A-1</td>
<td>Gly913Ser</td>
<td>p.Gly1091Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>305</td>
<td>c.3271G&gt;A</td>
<td>A-1</td>
<td>Gly913Ser</td>
<td>p.Gly1091Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1990b)</td>
<td></td>
</tr>
<tr class="odd">
<td>308</td>
<td>c.3299G&gt;A</td>
<td>A-2</td>
<td>Gly922Asp</td>
<td>p.Gly1100Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>310</td>
<td>c.3317G&gt;C</td>
<td>C-2</td>
<td>Gly928Ala</td>
<td>p.Gly1106Ala</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Lamande, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>316</td>
<td>c.3370G&gt;T</td>
<td>T-1</td>
<td>Gly946Cys</td>
<td>p.Gly1124Cys</td>
<td>0</td>
<td>II</td>
<td></td>
<td>(Kurosaka, et al., 1994)</td>
<td></td>
</tr>
<tr class="even">
<td>322</td>
<td>c.3424G&gt;A</td>
<td>A-1</td>
<td>Gly964Ser</td>
<td>p.Gly1142Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>322</td>
<td>c.3424G&gt;A</td>
<td>A-1</td>
<td>Gly964Ser</td>
<td>p.Gly1142Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Wallis, et al., 1989)</td>
<td></td>
</tr>
<tr class="even">
<td>323</td>
<td>c.3433G&gt;T</td>
<td>T-1</td>
<td>Gly967Cys</td>
<td>p.Gly1145Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Barnes</td>
</tr>
<tr class="odd">
<td>323</td>
<td>c.3434G&gt;A</td>
<td>A-2</td>
<td>Gly967Asp</td>
<td>p.Gly1145Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Hyland and Prockop</td>
</tr>
<tr class="even">
<td>325</td>
<td>c.3451G&gt;A</td>
<td>A-1</td>
<td>Gly973Ser</td>
<td>p.Gly1151Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td colspan="2">(Gomez Lira, et al., 1993)</td>
</tr>
<tr class="odd">
<td>325</td>
<td>c.3452G&gt;T</td>
<td>T-2</td>
<td>Gly973Val</td>
<td>p.Gly1151Val</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Lamande, et al., 1989)</td>
<td></td>
</tr>
<tr class="even">
<td>326</td>
<td>c.3460G&gt;C</td>
<td>C-1</td>
<td>Gly976Arg</td>
<td>p.Gly1154Arg</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Lamande, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>330</td>
<td>c.3496G&gt;T</td>
<td>T-1</td>
<td>Gly988Cys</td>
<td>p.Gly1166Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>330</td>
<td>c.3496G&gt;T</td>
<td>T-1</td>
<td>Gly988Cys</td>
<td>p.Gly1166Cys</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1986)</td>
<td></td>
</tr>
<tr class="odd">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Korkko and Prockop</td>
</tr>
<tr class="even">
<td>331</td>
<td>c.3505G&gt;A</td>
<td>A-1</td>
<td>Gly991Ser</td>
<td>p.Gly1169Ser</td>
<td>1</td>
<td></td>
<td>IV</td>
<td></td>
<td>Roughley and Glorieux</td>
</tr>
<tr class="odd">
<td>331</td>
<td>c.3505G&gt;T</td>
<td>T-1</td>
<td>Gly991Cys</td>
<td>p.Gly1169Cys</td>
<td>1</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>332</td>
<td>c.3515G&gt;A</td>
<td>A-2</td>
<td>Gly994Asp</td>
<td>p.Gly1172Asp</td>
<td>1</td>
<td>II</td>
<td></td>
<td>(Mottes, et al., 1998)</td>
<td></td>
</tr>
<tr class="odd">
<td>333</td>
<td>c.3523G&gt;T</td>
<td>T-1</td>
<td>Gly997Cys</td>
<td>p.Gly1175Cys</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>333</td>
<td>c.3523G&gt;A</td>
<td>A-1</td>
<td>Gly997Ser</td>
<td>p.Gly1175Ser</td>
<td>1</td>
<td></td>
<td>III</td>
<td></td>
<td>Marini and Cabral</td>
</tr>
<tr class="odd">
<td>334</td>
<td>c.3533G&gt;T</td>
<td>T-2</td>
<td>Gly1000Val</td>
<td>p.Gly1178Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>335</td>
<td>c.3541G&gt;A</td>
<td>A-1</td>
<td>Gly1003Ser</td>
<td>p.Gly1181Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Pruchno, et al., 1991)</td>
<td></td>
</tr>
<tr class="odd">
<td>335</td>
<td>c.3541G&gt;A</td>
<td>A-1</td>
<td>Gly1003Ser</td>
<td>p.Gly1181Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Pruchno, et al., 1991)</td>
<td></td>
</tr>
<tr class="even">
<td>335</td>
<td>c.3541G&gt;A</td>
<td>A-1</td>
<td>Gly1003Ser</td>
<td>p.Gly1181Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="odd">
<td>335</td>
<td>c.3541G&gt;A</td>
<td>A-1</td>
<td>Gly1003Ser</td>
<td>p.Gly1181Ser</td>
<td>2</td>
<td>II</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>336</td>
<td>c.3551G&gt;T</td>
<td>T-2</td>
<td>Gly1006Val</td>
<td>p.Gly1184Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Lamande, et al., 1989)</td>
<td></td>
</tr>
<tr class="odd">
<td>337</td>
<td>c.3559G&gt;A</td>
<td>A-1</td>
<td>Gly1009Ser</td>
<td>p.Gly1187Ser</td>
<td>2</td>
<td>II/III</td>
<td></td>
<td></td>
<td>Byers</td>
</tr>
<tr class="even">
<td>337</td>
<td>c.3559G&gt;A</td>
<td>A-1</td>
<td>Gly1009Ser</td>
<td>p.Gly1187Ser</td>
<td>2</td>
<td></td>
<td>III</td>
<td>(Cohn, et al., 1990b)</td>
<td></td>
</tr>
<tr class="odd">
<td>337</td>
<td>c.3560G&gt;T</td>
<td>T-2</td>
<td>Gly1009Val</td>
<td>p.Gly1187Val</td>
<td>2</td>
<td>II</td>
<td></td>
<td>(Cohn, et al., 1990b)</td>
<td></td>
</tr>
</tbody>
</table>

^a^Nucleotide change: refers to the cDNA position (NM_000088.3).
Numbered from the first base of the start codon.

^b^Mutation position: lists the substituting nucleotide and its 1^st^ or
2^nd^ position in the triplet GGN coding for the Gly of the triplets
Gly-Xaa-Yaa.

^c^Aminoacid substitution: numbered from the first glycine of the triple
helix.

^d^Aminoacid substitution: numbered from the initiation codon ATG.

^e^Bächinger Score: refers to the empirical values attributed to
individual tripeptide units to define the thermal stability of collagen
(Bächinger and Davis, 1991; Bächinger, et al., 1993).

^f^Phenotype: based on the classification proposed by Sillence
(Sillence, et al., 1979).

OI/EDS is a combination of OI and Ehler Danlos Syndrome clinical
symptoms.

OI II US represents a presumptive Type II OI based on ultrasound
examination. The fetus was aborted and both clinical and radiographic
data were concordant with a diagnosis of OI Type II.

**References**

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collagen triple helix. Int J Biol Macromol 13:152-6.

Bächinger HP, Morris NP, Davis JM. 1993. Thermal stability and folding
of the collagen triple helix and the effects of mutations in
osteogenesis imperfecta on the helix of type I collagen. Am J Med Genet
45:152-162.

Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG. 1987. Lethal
perinatal osteogenesis imperfecta due to the substitution of arginine
for glycine at residue 391 of the α1(I) chain of type I collagen. J Biol
Chem 262:7021-7.

Bateman JF, Lamande SR, Dahl HH, Chan D, Cole WG. 1988. Substitution of
arginine for glycine 664 in the collagen α1(I) chain in lethal perinatal
osteogenesis imperfecta. Demonstration of the peptide defect by in vitro
expression of the mutant cDNA. J Biol Chem 263:11627-30.

Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG. 1992.
Characterization of three osteogenesis imperfecta collagen α1(I) glycine
to serine mutations demonstrating a position-dependent gradient of
phenotypic severity. Biochem J 288 ( Pt 1):131-5.

Benusiene E, Kucinskas V. 2003. COL1A1 mutation analysis in Lithuanian
patients with osteogenesis imperfecta. J Appl Genet 44:95-102.

Bonaventure J, Cohen-Solal L, Lasselin C, Maroteaux P. 1992. A dominant
mutation in the COL1A1 gene that substitutes glycine for valine causes
recurrent lethal osteogenesis imperfecta. Human Genetics 89:640-646.

Byers PH. 1990. Brittle bones\--fragile molecules: disorders of collagen
gene structure and expression. Trends Genet 6:293-300.

Byers PH, Wallis GA, Willing MC. 1991. Osteogenesis imperfecta:
translation of mutation to phenotype. J Med Genet 28:433-42.

Cabral WA, Chernoff EJ, Marini JC. 2001. G76E substitution in type I
collagen is the first nonlethal glutamic acid substitution in the α1(I)
chain and alters folding of the N-terminal end of the helix. Molecular
Genetics and Metabolism 72:326-335.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G,
Leikin S, Marini JC. 2005. Mutations near amino end of α1(I) collagen
cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by
interference with N-propeptide processing. J Biol Chem 280:19259-69.
Epub 2005 Feb 22.

Cohen IR, Gaiko A, Marini JC. Collagen and bone proteoglycan expression
in osteoblasts from patients with osteogenesis imperfecta; 1996a; ASHG
Conference, San Francisco, CA, USA. p A253.

Cohen IR, Gajko A, Marini JC. Expression and regulation of bone matrix
components in osteoblasts from patients with osteogenesis imperfecta; VI
International Conference on Osteogenesis Imperfecta, 1996b; Woudschoten,
the Netherlands.

Cohen-Solal L, Zolezzi F, Pignatti PF, Mottes M. 1996. Intrafamilial
variable expressivity of osteogenesis imperfecta due to mosaicism for a
lethal G382R substitution in the COL1A1 gene. Molecular and Cellular
Probes 10:219-225.

Cohn DH, Byers PH, Steinmann B, Gelinas RE. 1986. Lethal osteogenesis
imperfecta resulting from a single nucleotide change in one human pro
α 1(I) collagen allele. Proc Natl Acad Sci U S A 83:6045-7.

Cohn DH, Starman BJ, Blumberg B, Byers PH. 1990a. Recurrence of lethal
osteogenesis imperfecta due to parental mosaicism for a dominant
mutation in a human type I collagen gene (COL1A1). Am J Hum Genet
46:591-601.

Cohn DH, Wallis G, Zhang X, Byers PH. Serine for glycine substitutions
in the α 1(I) chain of type I collagen: biological plasticity in the
Gly-Pro-Hyp clamp at the carboxyl-terminal end of the triple helical
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