Human Genetics Laboratory
Low-Frequency Sensorineural Hearing Loss - Base Substitutions
| ID | Location | Description | Change | Consequence | Reference |
|---|---|---|---|---|---|
| E-5 | c.482G>A | CGG>CAG | R161Q | 48 | |
| MP16 | E-5 | c.577A>C | AAG>CAG | K193Q | 17 |
| MORL6 | E-5 | c.577A>C | AAG>CAG | K193Q | 47 |
| MORL3 | E-8 | c.1371G>T | AGG>AGT | R457S | 47 |
| MORL7 | E-8 | c.1554G>A | ATG>ATA | M518I | 47 |
| MORL4 | E-8 | c.1669C>T | CTC>TTC | L557F | 47 |
| MORL8 | E-8 | c.1805C>T | GCG-GTG | A602V | 47 |
| Family #1 | E-8 | c.1846G>T | GCC>TCC | A616S | 23 |
| MORL5 | E-8 | c.1871T>C | GTG>GCG | V624A | 47 |
| E-8 | c.1901A>C | AAG>ACG | K634T | 22 | |
| E-8 | c.2005T>C | TAT>CAT | Y669H | 52 | |
| Family Dutch III | E-8 | c.2021G>A | GGG>GAG | G674E | 17 |
| Family Dutch IV | E-8 | c.2021G>T | GGG>GTG | G674V | 17 |
| Family#69 | E-8 | c.2033G>T | TGG>TTG | W678L | 29 |
| Family T | E-8 | c.2096C>T | ACG>ATG | T699M | 13 |
| Family U27 | E-8 | c.2096C>T | ACG>ATG | T699M | 17 |
| E-8 | c.2096C>T | ACG>ATG | T699M | 48 | |
| Family MR | E-8 | c.2115G>C | AAG>AAC | K705N | 26 |
| Family W | E-8 | c.2146G>A | GCC>ACC | A716T | 13 |
| Family#35 | E-8 | c.2146G>A | GCC>ACC | A716T | 13 |
| Family C | E-8 | c.2146G>A | GCC>ACC | A716T | 14 |
| MORL9 | E-8 | c.2146G>A | GCC>ACC | A716T | 47 |
| Family#70 | E-8 | c.2146G>A | GCC>ACC | A716T | 29 |
| Family#1 | E-8 | c.2146G>A | GCC>ACC | A716T | 51 |
| E-8 | c.2209G>A | GAG>AAG | E737K | 23 | |
| E-8 | c.2311G>C | GAC > CAC | D771H | 42 | |
| Family#21 | E-8 | c.2335G>A | GTG>ATG | V779M | 13 |
| Family M | E-8 | c.2419A>C | AGC>CGC | S807R | 17 |
| Family#59 | E-8 | c.2486T>C | CTG>CCG | L829P | 13 |
| MORL1 | E-8 | c.2486T>C | CTG>CCG | L829P | 47 |
| MORL2 | E-8 | c.2486T>C | CTG>CCG | L829P | 47 |
| Family#19 | E-8 | c.2492G>A | GGC>GAC | G831D | 13 |
| Family #4150 | E-8 | c.2492G>A | GGC>GAC | G831D | 17 |
| TMDU#34 | E-8 | c.2530G>A | GCC>ACC | A844T | 34 |
| E-8 | c.2576G>C | CGG>CCG | R859P | 42 | |
| Family #2 | E-8 | c.2590G>A | GAG>AAG | E864K | 51 |
| Family #3 | E-8 | c.2590G>A | GAG>AAG | E864K | 51 |
| Family # 3 | E-8 | c.2596G>A | GAC > AAC | D866N | 23 |
