Table 1.
Genotypic data for DFNB29 linked haplotypes
Genotypic data for short tandem repeat markers and single nucleotide polymorphisms in families HLRB5 and SA18 for DFNB29-linked haplotypes with c.254 T>A mutation in CLDN14.
| Position1 | Marker | Variation | Allele HLRB5 | Allele SA18 |
|---|---|---|---|---|
| 37826859 | D21S1252 | (AC)n | 247 | 247 |
| 37826859 | c.254 T>A | A | A | |
| 37834641 | rs219778 | T>C | T | T |
| 37834704 | rs2068750 | G>A | G | G |
| 37834721 | rs219777 | C>T | C | C |
| 37834835 | rs219776 | G>A | A | A |
| 37834914 | rs2835363 | T>A | A | A |
| 37834944 | rs219775 | C>T | T | T |
| 37835043 | rs219774 | G>A | G | G |
| 37835164 | rs60419768 | C>T | C | C |
| 37835185 | rs34627708 | InsC | - | - |
| 37835241 | rs72477120 | InsAA | - | - |
| 37835333 | rs219773 | C>T | C | C |
| 37835347 | rs219772 | T>A | T | T |
| 37835501 | rs219771 | G>A | G | G |
| 37835648 | rs219770 | T>C | T | T |
| 37835675 | rs219769 | G>T | G | G |
| 38195766 | D21S167 | (GT)n | 152 | 158 |
1
Nucleotide positions on chromosome 21 from UCSC February 2009, NCBI 37/hg19 assembly.
“Ins”=Insertion “-” = Deletion