Table 2 of Campos-Mollo, Mol Vis 2009; 15:417-431.
Nucleotide changea |
Amino acid change |
Allelic frequencyb (%) |
Exon |
Background haplotypec |
Reference |
---|---|---|---|---|---|
c.526C>T | P52L | 3.8 | 2 | RAVN | [26] |
c.553G>A | G61E | 7.7 | 2 | RAVN | [4]d |
c.612T>A | Y81N | 3.8 | 2 | GSLN | [25]e |
c.688C>A | A106D | 3.8 | 2 | RAVN | This work |
c.888G>T | E173X | 3.8 | 2 | ND | This work |
c.906delG | A179fsX18 | 3.8 | 2 | RALS | This work |
c.1154C>A | F261L | 3.8 | 2 | RALS | This work |
c.1155G>T | E262X | 3.8 | 2 | RAVN | This work |
c.1394G>A | W341X | 3.8 | 2 | RAVN | This work |
c.1435_1447delGAGTGCAGGCAGA | R355fsX69 | 11.5 | 3 | RAVN | [17]f |
c.1539C>A | R390S | 3.1 | 3 | RAVN | [60]g |
c.1569C>T | P400S | 3.1 | 3 | ND | [18]h |
c.1571_1580dupTCATGCCACC | T404fsX30 | 23 | 3 | RAVN | [61]i |
c.1681C>T | P437L | 3.8 | 3 | RAVN | [13]j |
c.1776C>T | R469W | 7.7 | 3 | RAVN | [12]k |
c.1907_1912del ACCCAA | P513_K514del | 7.7 | 3 | RALN | This work |