Table 3. SNVs detected in 46 EVA probands.
| Patient number | SLC26A4 | FOXI1 | KCNJ10 | Genotype | Inheritance statusa | |
|---|---|---|---|---|---|---|
| Mat | Pat | |||||
| 01 | c.919-2A>G | wt | wt | HE | N/A | N/A |
| 02 | wt | c.519C>A | wt | HE | wt | wt |
| 03 | c.1343C>T;c.2168A>G | wt | wt | Comp HE | c.1343C>T | c.2168A>G |
| 04 | c.919-2A>G;c.1975G>C | wt | wt | Doub HE | N/A | N/A |
| 05 | c.2T>C;c.269C>T | wt | wt | Doub HE | wt | c.269C>T |
| 06 | c.1229C>T | wt | wt | HOM | N/A | N/A |
| 07 | wt | wt | wt | - | N/A | N/A |
| 08 | c.754T>C;c.919-2A>G | wt | wt | Comp HE | c.754T>C | c.919-2A>G |
| 09 | c.919-2A>G;c.1229C>T | wt | wt | Comp HE | c.919-2A>G | c.1229C>T |
| 10 | wt | wt | wt | - | N/A | N/A |
| 11 | wt | c.716C>T | wt | HE | wt | c.716C>T |
| 12 | c.2168A>G | wt | wt | HE | wt | c.2168A>G |
| 13 | c.919-2A>G | wt | wt | HE | c.919-2A>G | wt |
| 14 | c.919-2A>G | wt | wt | HE | c.919-2A>G | wt |
| 15 | c.109G>T;c.1079C>T | wt | wt | Doub HE | wt | c.109G>T |
| 16 | c.919-2A>G | wt | wt | HOM | c.919-2A>G | c.919-2A>G |
| 17 | c.919-2A>G | wt | wt | HOM | c.919-2A>G | c.919-2A>G |
| 18 | c.919-2A>G;c.2000T>C | wt | wt | Comp HE | c.2000T>C | c.919-2A>G |
| 19 | c.919-2A>G;c.2000T>C | wt | wt | Comp HE | c.2000T>C | c.919-2A>G |
| 20 | c.754T>C;c.919-2A>G | wt | wt | Comp HE | c.754T>C | c.919-2A>G |
| 21 | c.1174A>T;c.1716T>A | wt | wt | Doub HE | N/A | N/A |
| 22 | c.422T>C;c.1229C>T | wt | wt | Comp HE | c.1229C>T | c.422T>C |
| 23 | c.1174A>T;c.1229C>T | wt | wt | Comp HE | c.1174A>T | c.1229C>T |
| 24 | wt | wt | wt | - | N/A | N/A |
| 25 | wt | wt | wt | - | N/A | N/A |
| 26 | c.589G>A;c.919-2A>G | wt | wt | Comp HE | c.589G>A | c.919-2A>G |
| 27 | c.919-2A>G;c.1547dupC | wt | wt | Comp HE | c.1547dupC | c.919-2A>G |
| 28 | c.919-2A>G;c.1547dupC | wt | wt | Comp HE | c.1547dupC | c.919-2A>G |
| 29 | c.1173C>A;c.1229C>T | wt | wt | Doub HE | N/A | N/A |
| 30 | c.919-2A>G;c.1786C>T | wt | wt | Comp HE | c.919-2A>G | c.1786C>T |
| 31 | c.754T>C;c.919-2A>G | wt | wt | Comp HE | c.754T>C | c.919-2A>G |
| 32 | c.754T>C | wt | wt | HE | c.754T>C | c.919-2A>G |
| 33 | wt | wt | wt | - | N/A | N/A |
| 34 | c.2162C>T | wt | wt | HE | wt | c.2162C>T |
| 35 | c.919-2A>G; c.923_929del | wt | wt | Comp HE | c.919-2A>G | c.923_929del |
| 36 | c.754T>C;c.1229C>T | wt | wt | Comp HE | c.754T>C | c.1229C>T |
| 37 | c.1229C>T;c.2168A>G | wt | wt | Comp HE | c.1229C>T | c.2168A>G |
| 38 | c.1229C>T;c.2168A>G | wt | wt | Comp HE | c.1229C>T | c.2168A>G |
| 39 | c.919-2A>G;c.1694dupA | wt | wt | Doub HE | N/A | N/A |
| 40 | c.919-2A>G | wt | wt | HE | N/A | N/A |
| 41 | c.919-2A>G | wt | wt | HE | N/A | N/A |
| 42 | c.919-2A>G;c.2168A>G | wt | wt | Comp HE | c.919-2A>G | c.2168A>G |
| 43 | c.919-2A>G | wt | wt | HE | N/A | N/A |
| 44 | wt | wt | wt | - | N/A | N/A |
| 45 | c.919-2A>G;c.1002-8C>G | wt | wt | Doub HE | N/A | N/A |
| 46 | c.919-2A>G;c.1229C>T | wt | wt | Comp HE | c.1229C>T | c.919-2A>G |
a: Whether the variant was inherited from the parents or not;
Mat:maternal; Pat:paternal; HE: heterozygous; HOM: homozygous; Comp HE: compound heterozygous; Doub HE: double heterozygote, which need further analyses to conform that the two heterozygous mutations are located in one allele or two alleles respectively. wt: wild-type; N/A: data was not available.