Table 1. DFNB1 alleles in Russian patients.
| Mutation | Effect | % (number) of alleles among 2208 chrs. | Referencea |
|---|---|---|---|
| c.35delG | p.Gly12Valfs*2 | 77.0 (1700) | CD972240 |
| c.313_326del14 | p.Lys105Glyfs*5 | 4.7 (103) | CD991732 |
| c.−23+1G>A | IVS1+1G>A | 4.4 (97) | CS991407 |
| c.101T>C | p.Met34Thr | 2.9 (65) | CM970679 |
| c.235delC | p.Leu79Cysfs*3 | 2.3 (51) | CD991730 |
| c.167delT | p.Leu56Argfs*25 | 1.5 (33) | CD972241 |
| c.109G>A | p.Val37Ile | 1.2 (27) | CM000016 |
| c.269T>C | p.Leu90Pro | 1.0 (23) | CM990691 |
| c.358_360delGAG | p.Glu120del | 0.9 (19) | CD993053 |
| c.290dupA | p.Tyr97* | 0.7 (15) | CI014787 |
| del(GJB2-D13S175) | GJB2-GJB6 deletion | 0.5 (11) | CG145665 |
| c.551G>C | p.Arg184Pro | 0.5 (10) | CM992895 |
| del(GJB6-D13S1830) | Putative abnormal regulation | 0.3 (6) | CG024899 |
| c.71G>A | p.Trp24* | 0.3 (6) | CM970678 |
| c.380G>A | p.Arg127His | 0.2 (5) | CM980930 |
| c.95G>A | p.Arg32His | 0.2 (4) | CM013721 |
| c.427C>T | p.Arg143Trp | 0.2 (4) | CM000018 |
| c.119C>A | p.Ala40Glu | 0.1 (2) | CM041349 |
| c.139G>T | p.Glu47* | 0.1 (2) | CM970680 |
| c.266T>C | p.Leu89Pro | 0.1 (2) | This report |
| c.334_335delAA | p.Lys112Glufs*2 | 0.1 (2) | CD982678 |
| c.559_561delGAG | p.Glu187del | 0.1 (2) | CD042866 |
| c.598G>A | p.Gly200Arg | 0.1 (2) | CM0910079 |
| c.632_633delGT | p.Cys211Leufs*5 | 0.1 (2) | CD982679 |
| c.31_68del38 | p.Gly11Leufs*24 | <0.1 (1) | CG973465 |
| c.94C>G | p.Arg32Gly | <0.1 (1) | This report |
| c.129delG | p.Trp44Glyfs*38 | <0.1 (1) | Bliznetz et al.b |
| c.205T>C | p.Phe69Leu | <0.1 (1) | This report |
| c.245T>A | p.Ile82Asn | <0.1 (1) | This report |
| c.246C>G | p.Ile82Met | <0.1 (1) | CM021271 |
| c.257C>G | p.Thr86Arg | <0.1 (1) | CM031189 |
| c.385G>A | p.Glu129Lys | <0.1 (1) | CM014194 |
| c.399G>A | p.Trp133* | <0.1 (1) | This reportc |
| c.402G>A | p.Trp134* | <0.1 (1) | This report |
| c.419T>G | p.Ile140Ser | <0.1 (1) | CM053901 |
| c.502_601del10 | p.Lys168Profs*5 | <0.1 (1) | This report |
| c.532G>A | p.Val178Met | <0.1 (1) | This report |
| c.550C>T | p.Arg184Trp | <0.1 (1) | CM000709 |
| c.614T>C | p.Leu205Pro | <0.1 (1) | CM055278 |
a
A number following CD, CS, CM, CI or CG is the HGMD Professional 2016.2 accession number for the mutation.
b
Patient with the novel c.129delG allele is the same with that previously published.19
c
The mutation c.399G>A has NCBI dbSNP accession number rs777225786, but for it, a population frequency and clinical significance are unknown and observation in hearing loss individuals is not described. The names of the novel mutations are highlight in bold type.