Table 2.

Allele frequencies in the patient cohort

VariantsaNo. of AllelesReference
c.681G>A (p.Glu227Glu)53 (31%)17
c.1015G>A (p.Gly339Arg)38 (22%)8
c.18_21 del (p.Thr7Phefs*7)23 (14%)11
c.451A>G (p.Arg151Gly)114
c.141–22A>G84
c. 960del (p.Tyr321Thrfs*8)b7This study
c140+1G>T611
c.518A>G (p.Tyr173Cys)34
c.829 dup (p.Thr277Asnfs*19)39
c.853–1G>Ab2This study
c.664C>T (p.Gln222*)b2This study
c.470 G>A (p.Gly157Asp)24
c.G14A (p.Trp5*)210
c.62–1083_c.551del1021724
c.291_294delTACT (p.Thr98Phefs*19)b2This study
c.834_842del (p. Val279_Tyr281del)b2This study
c.922 G>C (p.Gly308Arg)18
c.613 G>A (p.Asp205Asn)18
c.3 G>C (p.Met1Ile)b1This study
c.878G>T (p.Ser293Ile)b1This study
  • a Variations and predicted amino acid changes were named according to the guidelines of the Human Genome Variation Society using Mutalyzer software (http://mutalyzer.nl; transcript no: NM_001031681.2).

  • b Novel mutation.