Human Genetics Laboratory
Wolfram Syndrome - Small Insertions
| ID | Location | Description | Consequence | Reference |
|---|---|---|---|---|
| Family WS2 | E-4 | c.409_424dup16 | V142fsX251 | 12b |
| Family WS12 | E-3 | c.409_424dup16 | V142fsX251 | 12b |
| Family WS13 | E-3 | c.409_424dup16 | V142fsX251 | 12b |
| Family WS16 | E-3 | c.409_424dup16 | V142fsX251 | 12b |
| Family WS18 | E-3 | c.409_424dup16 | V142fsX251 | 12b |
| Family WS20 | E-3 | c.409_424dup16 | V142fsX251 | 12b |
| E-3 | c.409_424dup16 | V142fsX251 | 36 | |
| Family WS22 | E-3 | c.409_424dup16 | V142fsX251 | 37 |
| Family WS24 | E-3 | c.409_424dup16 | V142fsX251 | 37 |
| Family WS26 | E-3 | c.409_424dup16 | V142fsX251 | 37 |
| Family 7 | E-3 | c.409_424dup16 | V142fsX251 | 38d |
| Family WS9 | E-3 | c.409_424dup16 | V142fsX251 | 40 |
| Family 16 | E-3 | c.409_424dup16 | V142fsX251 | 40 |
| WS5 | E-4 | c.409_424dup16 | V142fsX251 | 53 |
| ER76 | E-8 | c.937-941dupCACTG | L315fsX360 | 41 |
| 1 | E-8 | c.1029insC | 344fsX395 | 31 |
| Family 8 | E-8 | c.1032_1033ins9 | 344_345insAFF | 38c |
| E-8 | c.1032_1033ins9 | 344_345insAFF | 45 | |
| Family 1 | E-8 | c.1038_1039insC | L347fsX396 | 20 |
| E-8 | c.1109_1110insAAGGC | A371fsX443 | 44 | |
| Family WS-6 | E-8 | c.1440_1441insCTGAAGG | L481fsX544 | 1 |
| 4815 | E-8 | c.1504_1505ins24 | ins8aa | 3 |
| WF2 | E-8 | c.1581_1582insC | Y528fsX542 | 27 |
| WS2 | E-8 | c.1813_1814insA | S605fsX711 | 53 |
| 12131 | E-8 | c.2164_2165dup24 | N721_M722dup8aa | 2a |
| 16 | E-8 | c.2164_2165dup24 | N721_M722dup8aa | 28 |
| Family WS11 | E-8 | c.2224_2225insT | C742fsX758 | 40 |
| Family 2 | E-8 | c.2315_2316insT | Y773fsX776 | 20 |
| 16 | E-8 | c.2504_2505insC | K836fsX939 | 28 |
a: This mutation has been described as an insertion of 8 amino acids.
b: This mutation was initially described as c.425ins16.
c: This mutation was initially described as 1032ins9bp.
d: This mutation was initially described as 425_426ins16bp.
