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Table 1 Genotype and frequencies of 47 patients with c.919-2A>G and second mutations in SLC26A4

From: Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Mutation Amino acids No. of alleles (% frequency)
c.279T>A* p.S93R 1 (1.25%)
c.281C>T p.T94I 1 (1.25%)
c.415+2T>C* Splice site 1 (1.25%)
(4+2T>C)
c.600+2T>A* Splice site 2 (2.5%)
(5+2T>A)
c.665G>T* p.G222V 1 (1.25%)
c.1079C>T p.A360V 1 (1.25%)
c.1174A>T p.N392Y 3 (3.75%)
c.1226G>A p.R409H 2(2.5%)
c.1229C>T p.T410M 4 (5%)
c.1545-2 A>G* Splice site 1 (1.25%)
(14-2A>G)
c.1548insC Frameshift 1 (1.25%)
c.1586T>G p.I529S 1 (1.25%)
c.1705+5G>A Splice site 4 (5%)
(15+5G>A)
c.1825delG* Frameshift 1 (1.25%)
c.1829C>A p.S610X 1 (1.25%)
c.1991C>T p.A664V 1 (1.25%)
c.2027T>A p.L676Q 4 (5%)
c. 2035-1G>A* Splice site 1 (1.25%)
(18-1G>A)
c.2168A>G p.H723R 16 (20%)
  1. Alleles in bold italic type had frequencies >2%. *, novel mutation.