表 1.
48例SLC26A4基因突变患儿的基因型
| 内耳畸形 | 基因型 | 分类 | 受试数量 |
| EVAS | c.919-2A>G/c.919-2A>G | Splicing | 3 |
| c.754T>C/c.754T>C | Missense | 1 | |
| c.919-2A>G /c.281C>T | Splicing/（p.T94I） | 1 | |
| c.919-2A>G/c.1707+5G>A | Splicing | 1 | |
| c.919-2A>G /c.311_321del | Splicing/ p.Y105Sfs*73 | 1 | |
| c.919-2A>G/c.589G>A | Splicing/ p.G197R | 1 | |
| c.919-2A>G/ c.1226G>A | Splicing/ p.R409H | 1 | |
| c.919-2A>G/c.2027T>A | Splicing/ p.L676Q | 1 | |
| c.919-2A>G/c.1433A>T | Splicing/ p.D478V | 1 | |
| c.1520delT/c.1262A>C | p.L507X/p.Q421P | 1 | |
| c.1173C>A/c.1547dupC | p.S391R /p.S517Ffs*10 | 1 | |
| c.100C>T；c.2168A>G | p.Gln34*；Splicing | 1 | |
| c.2029C>T/ del | p.R677W/- | 1 | |
| c.919-2A>G/c.919-2A>G | Splicing | 9 | |
| EVAS+MD | c.86A>G/ c.86A>G | p.E29G | 1 |
| c.1264-12T>A/ c.1264-12T>A | - | 1 | |
| c.1174A>T/ c.1174A>T | p.（Asn392Tyr） | 1 | |
| c.919-2A>G/c.2168A>G | Splicing/p.H723R | 2 | |
| c.919-2A>G /c.916dupG | Splicing/ p.V306Gfs*24 | 1 | |
| c.919-2A>G/c.716T>A | Splicing/ p.V239D | 1 | |
| c.919-2A>G/c.1433A>T | Splicing/ p.D478V | 1 | |
| c.919-2A>G/c.281C>T | Splicing/ p.T94I | 1 | |
| c.919-2A>G/c.1519delT | Splicing/ p.L507X | 1 | |
| c.919-2A>G/c.1226G>A | Splicing/ p.R409H | 1 | |
| c.919-2A>G/c.2027T>A | Splicing/ p.L676Q | 1 | |
| c.919-2A>G/c.1520delT | Splicing/ p.L507X | 1 | |
| c.919-2A>G/c.2086C>T | Splicing/ p.Q696X | 1 | |
| c.1229C>T；c.304+3A>C | p.T410M；splicing | 1 | |
| c.2086C>T/c.312_322delATATGCCCTAC | p.Q696X/p.Y105Sfs*73 | 1 | |
| c.1173C>A/c.2086C>T | p.S391R/ p.Q696X | 1 | |
| c.2000T>C/c.2168A>G | p.F667S/p.H723R | 1 | |
| c.1520delT/c.1262A>C | p.L507X/p.Q421P | 1 | |
| c.1343_1355dupCGGTCTTGGCAGC/c.1174A>T | p.V453Gfs*19/p.N392Y | 1 | |
| c.1546dupC/c.2086C>T | p.S517Ffs*10/p.Q696X | 1 | |
| c.1173C>A/c.1547dupC | p.S391R/p.S517Ffs*10 | 1 | |
| c.589G>A/ | p.G197R/ | 1 | |
| c.2162C>T/ | p.T721M/ | 1 |