+----------+-----------+------------+---+----+----------+------------+
| ## S     |           |            |   |    |          |            |
| UPPLEMEN |           |            |   |    |          |            |
| TARY TAB |           |            |   |    |          |            |
| LE 3. Sp |           |            |   |    |          |            |
| licing d |           |            |   |    |          |            |
| efects i |           |            |   |    |          |            |
| n COL1A1 |           |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| **Nucl   | **IVS     | # *        | * |    | **Refe   | **Unp      |
| eotide** | l         | *Transcrip | * |    | rences** | ublished** |
|          | ocation** | t Change** | P |    |          |            |
| **Change |           |            | h |    |          | *          |
| ^a^**    |           |            | e |    |          | *(personal |
|          |           |            | n |    |          | communi    |
|          |           |            | o |    |          | cations)** |
|          |           |            | t |    |          |            |
|          |           |            | y |    |          |            |
|          |           |            | p |    |          |            |
|          |           |            | e |    |          |            |
|          |           |            | ^ |    |          |            |
|          |           |            | b |    |          |            |
|          |           |            | ^ |    |          |            |
|          |           |            | * |    |          |            |
|          |           |            | * |    |          |            |
|          |           |            |   |    |          |            |
|          |           |            | * |    |          |            |
|          |           |            | * |    |          |            |
|          |           |            | L |    |          |            |
|          |           |            | e |    |          |            |
|          |           |            | t |    |          |            |
|          |           |            | h |    |          |            |
|          |           |            | a |    |          |            |
|          |           |            | l |    |          |            |
|          |           |            | N |    |          |            |
|          |           |            | o |    |          |            |
|          |           |            | n |    |          |            |
|          |           |            | - |    |          |            |
|          |           |            | L |    |          |            |
|          |           |            | e |    |          |            |
|          |           |            | t |    |          |            |
|          |           |            | h |    |          |            |
|          |           |            | a |    |          |            |
|          |           |            | l |    |          |            |
|          |           |            | * |    |          |            |
|          |           |            | * |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       |   ---     |            |   | I  | (Korkko, |            |
| 3407A\>G | --------- |            |   |    | et al.,  |            |
|          |   I       |            |   |    | 1998)    |            |
|          | VS5-2A\>G |            |   |    |          |            |
|          |           |            |   |    |          |            |
|          |   ---     |            |   |    |          |            |
|          | --------- |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       |   ---     | Skips exon |   | E  | (Byers,  |            |
| 3408G\>A | --------- | 6,         |   | DS | et al.,  |            |
|          |   I       | Activates  |   | VI | 1997)    |            |
|          | VS5-1G\>A | cryptic    |   | IA |          |            |
|          |           |            |   |    |          |            |
|          |   ---     | splice     |   |    |          |            |
|          | --------- | site       |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | E  | (N       |            |
| 3408G\>A | VS5-1G\>A | 6,         |   | DS | icholls, |            |
|          |           | Activates  |   | VI | et al.,  |            |
|          |           | cryptic    |   | IA | 2000)    |            |
|          |           |            |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site       |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       |   -       | Skips exon |   | E  | (Weil,   |            |
| 3480G\>A | --------- | 6          |   | DS | et al.,  |            |
|          |           |            |   | VI | 1989)    |            |
|          |  3480G\>A |            |   | IA |          |            |
|          |           |            |   |    |          |            |
|          |   -       |            |   |    |          |            |
|          | --------- |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | E  | (D\'     |            |
| 3707G\>A | VS6-1G\>A | 6,         |   | DS | Alessio, |            |
|          |           | Activate   |   | VI | et al.,  |            |
|          |           | cryptic    |   | IA | 1991)    |            |
|          |           |            |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site       |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | I  |          | Hyland and |
| 3753G\>A | VS7+1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | OI | (Cabral, |            |
| 3756A\>T | VS7+4A\>T | 7,         |   | /E | et al.,  |            |
|          |           | multiple   |   | DS | 2005)    |            |
|          |           | forms      |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | I  |          | Roughley   |
| 3965G\>A | VS8+1G\>A |            |   | II |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | II | (S       |            |
| 3965G\>C | VS8+1G\>C | 8,         |   | I/ | chwarze, |            |
|          |           | multiple   |   | IV | et al.,  |            |
|          |           | forms      |   |    | 1999)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | IV | (        |            |
| 3969G\>A | VS8+5G\>A | 8,         |   |    | Bateman, |            |
|          |           | Activates  |   |    | et al.,  |            |
|          |           | cryptic    |   |    | 1994)    |            |
|          |           |            |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site       |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | possible   |   | I  |          | DePaepe    |
| 4183T\>G | VS9+2T\>G | null       |   |    |          |            |
|          |           | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | I  |          | Roughley   |
| 4678A\>T | VS9-2A\>T |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | I  | (H       |            |
| 4678A\>G | VS9-2A\>G |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | IV |          | Roughley   |
| 4678A\>G | VS9-2A\>G |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.4678_4 | IVS9-     |            |   | IV |          | Hyland and |
| 679delAG | 1\^2delAG |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         |            |   | IV | (Pepin,  |            |
| 4679G\>T | VS9-1G\>T |            |   |    | et al.,  |            |
|          |           |            |   |    | 1997)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | IV |          | Byers      |
| 4679G\>T | VS9-1G\>T | 10         |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IVS11+3\  |            |   | I  | (Ward,   |            |
| 4906_490 | ^6delGAGT |            |   | II | et al.,  |            |
| 9delGAGT |           |            |   |    | 2001)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IVS11+3\  |            |   | I  |          | Roughley   |
| 4906_490 | ^6delGAGT |            |   | II |          | and        |
| 9delGAGT |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 4908G\>C | S11+5G\>C |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | DePaepe    |
| 5288G\>A | S12+1G\>A |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | DePaepe    |
| 5288G\>T | S12+1G\>T |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Korkko, |            |
| 5288G\>A | S12+1G\>A |            |   |    | et al.,  |            |
|          |           |            |   |    | 1998)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Hyland and |
| 5375G\>A | S12-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Hyland and |
| 5375G\>A | S12-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            | I |    |          | Byers      |
| 5592T\>A | S14+2T\>A |            | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon | I |    | (        |            |
| 5595G\>A | S14+5G\>A | 14         | I |    | Bonadio, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 1990)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | I         | Skips exon |   | II |          | Byers      |
| 5686_568 | VS14-19\^ | 15 (minor) |   | I/ |          |            |
| 9delCTTC | 16delCTTC |            |   | IV |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 5704G\>A | S14-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Korkko and |
| 5704G\>A | S14-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.5884_5 | IVS15-33  |            |   | I  | (Ward,   |            |
| 895del12 | \^44del12 |            |   |    | et al.,  |            |
|          |           |            |   |    | 2001)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I/ |          | Korkko and |
| 5926A\>G | S15-2A\>G |            |   | IV |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I/ |          | Hyland and |
| 5927G\>C | S15-1G\>C |            |   | IV |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 5982G\>A | S16+1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 6237A\>G | S16-2A\>G |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | IV |          | Byers      |
| 6237A\>G | S16-2A\>G | 17         |   |    |          |            |
|          |           | (minor),   |   |    |          |            |
|          |           |            |   |    |          |            |
|          |           | Activates  |   |    |          |            |
|          |           | exon 17    |   |    |          |            |
|          |           | cryptic    |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site (PTC) |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | IV |          | Byers      |
| 6237A\>G | S16-2A\>G | 17         |   |    |          |            |
|          |           | (minor),   |   |    |          |            |
|          |           |            |   |    |          |            |
|          |           | Activates  |   |    |          |            |
|          |           | exon 17    |   |    |          |            |
|          |           | cryptic    |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site (PTC) |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | I  | (        |            |
| 6237A\>G | S16-2A\>G | 17 (minor) |   |    | Willing, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 1993)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Pepin,  |            |
| 6338G\>C | S17+1G\>C |            |   |    | et al.,  |            |
|          |           |            |   |    | 1997)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | I  |          | Byers      |
| 6338G\>C | S17+1G\>C | 17         |   |    |          |            |
|          |           | (minor),   |   |    |          |            |
|          |           |            |   |    |          |            |
|          |           | Activate   |   |    |          |            |
|          |           | e17        |   |    |          |            |
|          |           | cryptic    |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site (PTC) |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (H       |            |
| 6338G\>C | S17+1G\>C |            |   | II | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | IV |          | Marini and |
| 6338G\>C | S17+1G\>C | 17         |   |    |          | Cabral     |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IVS17+3\  |            |   | I  | (H       |            |
| 6340_634 | ^6delAAGT |            |   |    | artikka, |            |
| 3delAAGT |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | I  | (        |            |
| 6471G\>A | S18+1G\>A | 18,        |   |    | Willing, |            |
|          |           |            |   |    | et al.,  |            |
|          |           | Activates  |   |    | 1994)    |            |
|          |           | cryptic    |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site (PTC) |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | I  | (        |            |
| 6471G\>A | S18+1G\>A | 18,        |   |    | Willing, |            |
|          |           |            |   |    | et al.,  |            |
|          |           | Activates  |   |    | 1994)    |            |
|          |           | cryptic    |   |    |          |            |
|          |           | splice     |   |    |          |            |
|          |           | site (PTC) |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Korkko, |            |
| 6573G\>A | S18-1G\>A |            |   |    | et al.,  |            |
|          |           |            |   |    | 1998)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Korkko,    |
| 6673G\>C | S19+1G\>C |            |   |    |          | Prockop    |
|          |           |            |   |    |          | Dawson and |
|          |           |            |   |    |          | Marini     |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Roughley   |
| 6673G\>C | S19+1G\>C |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 6673G\>A | S19+1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | OI | (B       |            |
| 6673G\>A | S19+1G\>A |            |   | I  | enusiene |            |
|          |           |            |   |    | and      |            |
|          |           |            |   |    | Ku       |            |
|          |           |            |   |    | cinskas, |            |
|          |           |            |   |    | 2003)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IVS       |            |   | I  | (Korkko, |            |
| 6792G\>A | 19-12G\>A |            |   |    | et al.,  |            |
|          |           |            |   |    | 1998)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Byers      |
| 6858G\>C | S20+1G\>C |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Ward,   |            |
| 6859T\>C | S20+2T\>C |            |   |    | et al.,  |            |
|          |           |            |   |    | 2001)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon | I |    |          | Byers      |
| 6862G\>C | S20+5G\>C | 20         | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IVS       | null       |   | I  |          | DePaepe    |
| 7064G\>A | 20-12G\>A | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IA | (B       |            |
| 7074A\>G | S20-2A\>G |            |   |    | enusiene |            |
|          |           |            |   |    | and      |            |
|          |           |            |   |    | Ku       |            |
|          |           |            |   |    | cinskas, |            |
|          |           |            |   |    | 2003)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Korkko, |            |
| 7334A\>G | S22+3A\>G |            |   |    | et al.,  |            |
|          |           |            |   |    | 1998)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Normal     |   | I  |          | DePaepe    |
| 7334A\>G | S22+3A\>G | band +     |   |    |          |            |
|          |           | extra band |   |    |          |            |
|          |           | on agarose |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IB | (B       |            |
| 7456G\>T | S22-1G\>T |            |   |    | enusiene |            |
|          |           |            |   |    | and      |            |
|          |           |            |   |    | Ku       |            |
|          |           |            |   |    | cinskas, |            |
|          |           |            |   |    | 2003)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Korkko and |
| 7556G\>A | S23+1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.75     | IVS23+2   |            |   | IV |          | Roughley   |
| 57_7558d | delTGinsC |            |   |    |          | and        |
| elTGinsC |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Roughley   |
| 7717C\>A | S23-4C\>A |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Hyland and |
| 7966G\>C | S25+5G\>C |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | Hyland and |
| 8857G\>A | S25-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (Korkko, |            |
| 8857G\>A | S25-1G\>A |            |   |    | et al.,  |            |
|          |           |            |   |    | 1998)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Korkko and |
| 8912G\>C | S26+1G\>C |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Hyland and |
| 8912G\>C | S26+1G\>C |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | RT-PCR     |   | I  |          | DePaepe    |
| 8912G\>T | S26+1G\>T | showed     |   |    |          |            |
|          |           | only       |   |    |          |            |
|          |           | normal     |   |    |          |            |
|          |           | band       |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | DePaepe    |
| 8912G\>A | S26+1G\>A |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV |          | DePaepe    |
| 8912G\>A | S26+1G\>A |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon | I |    | (Byers,  |            |
| 9053A\>C | S26-2A\>C | 27         | I |    | 1990)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            | I |    | (Pepin,  |            |
| 9053A\>C | S26-2A\>C |            | I |    | et al.,  |            |
|          |           |            |   |    | 1997)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            | I |    |          | Byers      |
| 9053A\>C | S26-2A\>C |            | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | ND, null   |   | I  |          | DePaepe    |
| 9210A\>G | S27-2A\>G | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | IV | (Ward,   |            |
| 9211G\>C | S27-1G\>C |            |   |    | et al.,  |            |
|          |           |            |   |    | 2001)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | null       |   | I  |          | DePaepe    |
| 9877delC | S29-5delC | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        | Skips exon |   | I  |          | Byers      |
| 9880A\>C | S29-2A\>C | 30         |   | II |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  |          | Roughley   |
| 9880A\>C | S29-2A\>C |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.       | IV        |            |   | I  | (H       |            |
| 9928T\>G | S30+2T\>G |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 0120T\>G | S31+2T\>G |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 0414A\>G | S31-2A\>G |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Hyland and |
| 0415G\>A | S31-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Korkko and |
| 0415G\>A | S31-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Hyland and |
| 0415G\>A | S31-1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | IV |          | Hyland and |
| 0415G\>C | S31-1G\>C |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IVS       | Inclusion  | I |    |          | DePaepe    |
| 1657C\>T | 36+76C\>T | of 78nt    | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | DePaepe    |
| 1797A\>G | S36-2A\>G |            |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 1798G\>A | S36-1G\>A |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Hyland and |
| 1911G\>A | S37+5G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Roughley   |
| 1994G\>A | S37-1G\>A |            |   |    |          | and        |
|          |           |            |   |    |          | Glorieux   |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | IV |          | Hyland and |
| 2531G\>A | S40+1G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 2533A\>C | S40+3A\>C |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | Skips exon |   | I  | (Cabral, |            |
| 2743A\>C | S41+4A\>C | 41         |   | II | et al.,  |            |
|          |           |            |   |    | 2002)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 3110A\>G | S42-2A\>G |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | ND, null   |   | I  |          | DePaepe    |
| 3111G\>T | S42-1G\>T | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | ND, null   |   | I  |          | DePaepe    |
| 3111G\>A | S42-1G\>A | allele     |   |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | Skips exon | I |    |          | Byers      |
| 3268A\>G | S43-2A\>G | 44         | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 3382G\>T | S44+5G\>T |            |   |    | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | IA |          | Hyland and |
| 3382G\>A | S44+5G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  | (H       |            |
| 3756A\>C | S44-2A\>C |            |   | II | artikka, |            |
|          |           |            |   |    | et al.,  |            |
|          |           |            |   |    | 2004)    |            |
+----------+-----------+------------+---+----+----------+------------+
| ND       | ND        |            |   | I  |          | DePaepe    |
|          |           |            |   | II |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            | I |    | (Wallis, |            |
| 4424G\>A | S47+1G\>A |            | I |    | et al.,  |            |
|          |           |            |   |    | 1990)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | Skips exon | I |    |          | Byers      |
| 4424G\>A | S47+1G\>A | 47         | I |    |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | II | (Pepin,  |            |
| 4781C\>G | S47-3C\>G |            |   | I/ | et al.,  |            |
|          |           |            |   | IV | 1997)    |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        | Skips exon |   | I  |          | Byers      |
| 4781C\>G | S47-3C\>G | 48 (minor) |   | II |          |            |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Hyland and |
| 4896G\>A | S48+5G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+
| g.1      | IV        |            |   | I  |          | Hyland and |
| 4897G\>A | S48+6G\>A |            |   |    |          | Prockop    |
+----------+-----------+------------+---+----+----------+------------+

^a^The Nucleotide changes: described at the genomic level. Numbered from
the first base of the transcript.

^b^Phenotype: is based on the callsification proposed by Sillence
(Sillence, et al., 1979).

ND= mutation detected only at mRNA level.

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