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