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Table 2 List of homozygous and compound heterozygous variants detected in this study

From: Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Mutation Mutation Type Elder sister Younger sister Father Mother
Mutations shared by two affected siblings
LDB3: ENST00000429277:c.1384C > A:p.Pro462Thr Hom AA AA CA CA
 DUOX2: ENST00000603300:c.1588A > T:p.Lys530* CompHet TA TA TA TT
DUOX2: ENST00000603300:c.3329G > A:p.Arg1110Gln CompHet CT CT CC CT
COL22A1: ENST00000303045:c.923A > G:p.Glu308Gly CompHet TC TC TC TT
COL22A1: ENST00000303045:c.2101A > G:p.Met701Val CompHet TC TC TT TC
Mutations detected in elder sister only
TECPR2: c.1477C > T:p.Pro493Ser CompHet CT CC CT CC
TECPR2: c.1457C > T:p.S486Leu CompHet CT CT CC CT
 CHRD: c.2261C > G:p.Ala754Gly CompHet CG CC CG CC
CHRD: c.993G > C:p.Gln331His CompHet GC GG GG GC
CYP4V2: ENST00000378802:c.237G > T:p.Gln79Asp CompHet GT GG GT GG
 CYP4V2: ENST00000378802:c.367A > G:p.Met123Val CompHet AG AA AG AA
 CYP4V2: ENST00000378802:c.780C > G:p.Ile260Met CompHet CG CG CC CG
RAPGEF6: ENST00000509018:c.664C > T:p.Arg222Cys CompHet GA GG GA GG
RAPGEF6: ENST00000509018:c.1963A > G:p.Thr655Ala CompHet TC TT TT TC
 MUC22: ENST00000561890:c.2998_299AC CompHet GA/AC GA_HOM GA-HOM GA/AC
MUC22: ENST00000561890:c.3441_3442AG CompHet CA/AG CA/AG CA/AG CA_HOM
MUC22: ENST00000561890:c.3493A > C:p.I1165Leu CompHet AC AC AC AA
Mutations detected in younger sister only
CR1: ENST00000367049:c.7310 T > C:p.Leu2437Pro CompHet TC TC TC TT
CR1: ENST00000367049:c.6919G > A:p.Gly2307Arg CompHet GG GA GG GA
MUC16: ENST00000397910:c.38825A > G:p.Gln12942Arg CompHet TT TC TC TT
MUC16: ENST00000397910:c.11458A > G:p.T3820Ala CompHet TT TC TT TC
MUC16: ENST00000397910:c.7201G > T:p.Ala2401Ser CompHet CC CA CA CC
 FRAS1: ENST00000264895:c.1471C > T:p.R491Trp CompHet CT CT CC CT
 FRAS1: ENST00000264895:c.11893A > G:p.Asn3965Asp CompHet AA AG AG AA
  1. Abbreviations: Hom homozygous, CompHet compound heterozygous