Table 1. Genotype of individuals segregating homozygous or heterozygous mutations of CDH23 identified by TRS or WES, and from the previous study by Kim et al.
[9].
| Patient | Sex/Age | Variant annotation | Location | Ref | Var | Coverage | Quality score | Found by |
|---|---|---|---|---|---|---|---|---|
| SH62-147 | F/32 | exon42:c.G5747A:p.R1916H | Chr10:73545422 | G | A | 178 | 99 | TRS200 |
| exon46:c.G6604A:p.D2202N | Chr10:73553289 | G | A | 237 | 99 | |||
| SH151-324, 383 | F/26 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 193 | 60(Qcall) | TRS129 |
| M/23 | exon37:c.C4762T:p.R1588W | Chr10:73501595 | C | T | 71 | 60(Qcall) | ||
| SB210-412 | F/21 | exon12:c.C1205T:p.P402L | Chr10:73405652 | C | T | 59 | 60(Qcall) | TRS129 |
| exon38:c.C5138A:p.A1713D | Chr10:73538016 | C | A | 21 | 60(Qcall) | |||
| SB116-208 | F/71 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 50 | 60(Qcall) | TRS129, WES |
| Not determined | ||||||||
| SH59-133 | F/3 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 238 | 99 | Kim et al. [9] |
| exon37:c.C4853A:p.T1618K | Chr10:73537445 | C | A | 29 | 99 | |||
| SH97-211 | F/1 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 102 | 60(Qcall) | Kim et al. [9] |
| exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 102 | 60(Qcall) | |||
| SH164-359 | F/1 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 218 | 99 | Kim et al. [9] |
| exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 218 | 99 | |||
| SB56-103 | F/4 | exon8:c.C719T:p.P240L | Chr10:73330641 | C | T | 238 | 60(Qcall) | Kim et al. [9] |
| exon58:c.8574delC:p.D2858EfsX8 | Chr10:73567616 | C | - | 95 | 60(Qcall) |