Research Article
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
Table 1
Genotype of SNPs in chromosome 3 for probands F1-II-1 and F2-II-1.
| dbSNP | Chromosome | Position | Gene | Genotype | MAF in Chinese Hans | F1-II-1 | F2-II-1 |
| rs78962087 | 3p13 | 70014199 | MITF | C/A | C/C | 0.0021 | rs2306522 | 3p21.31 | 45542083 | LARS2 | T/T | T/C | 0.1413 | rs11549809 | 3p21.31 | 45557707 | LARS2 | G/A | G/G | 0.1413 | rs10578999 | 3p21.31 | 46751073 | TMIE | TAAG/T | T/T | 0.7314 | p.G141R | 3q13.33 | 121720670 | ILDR1 | G/G | G/G | 0 | rs2877561 | 3q13.33 | 121712051 | ILDR1 | C/C | A/A | 0.6304 | rs16846663 | 3q25.1 | 150658264 | CLRN1 | G/A | G/G | 0 | rs187218889 | 3q25.1 | 150690487 | CLRN1 | G/T | G/G | 0.0057 | rs3796240 | 3q25.1 | 150690566 | CLRN1 | T/T | C/C | 0.0630 | rs188384 | 3q28 | 191074873 | CCDC50 | G/G | C/C | 0.6435 | rs11542549 | 3q28 | 191075902 | CCDC50 | C/T | C/C | 0.1652 | rs2028573 | 3q28 | 191093080 | CCDC50 | A/A | G/G | 0.1500 | rs4677728 | 3q28 | 191093310 | CCDC50 | A/G | A/A | 0.0783 | rs4677729 | 3q28 | 191093384 | CCDC50 | A/A | G/G | 0.0152 | rs188384 | 3q28 | 191094873 | CCDC50 | G/G | C/C | 0.6434 | rs34031057 | 3q28 | 191097928 | CCDC50 | G/G | G/GT | 0.0109 | rs7624750 | 3q29 | 193334991 | OPA1 | G/A | G/G | 0.2457 | rs166850 | 3q29 | 193355074 | OPA1 | C/C | T/T | 0.6739 | rs10451941 | 3q29 | 193355102 | OPA1 | T/C | T/T | 0.2000 | rs9851685 | 3q29 | 193374964 | OPA1 | T/C | T/T | 0.2326 | rs3772393 | 3q29 | 193336639 | OPA1 | T/C | T/T | 0.2000 |
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