Variants in genes involved in the sensory processing of sound by inner hair cells of the cochlea*
| Gene | Family D | Family E | Family G | Family H | Family I | Family J† | Family R | Family T |
|---|---|---|---|---|---|---|---|---|
| BSN | ur, 31, m | – | – | – | – | ur,15, UTR ur, 11, m | – | – |
| CACNA2D2 | – | – | – | – | – | ur, 19, i ur, 15, i | – | ur, 22, m |
| CDH23 | ur, 22, i r, 17, i r, 17, i ur, 14, i | r, 20, i uc, 18, i uc, 16, i r, 13, i | – | uc, 21, i uc, 18, i | r, 23, m | ur, 21, i ur, 20, m r, 16, i ur, 15, i r, 14, i r, 11, i r, 10, i | – | – |
| EPB41L3 | – | – | – | – | – | ur, 13, s | ur, 24, m | – |
| KCNMA1 | – | uc, 12, i uc, 11, i | ur, 12, i | r, 12, i uc, 13, i | uc, 17, i uc, 16, i ur, 14, i | uc, 17, i uc, 13, s | – | – |
| SLC17A8 | – | – | ur, 10, i | – | – | – | – | ur, 33, sp |
CADD = combined annotation dependent depletion; i = intronic; m = missense; MAF = minor allele frequency; r = rare (MAF 0.1%–1%); s = synonymous; sp = splicing; uc = uncommon (MAF 1%–5%); ur = ultra-rare (MAF < 0.1%); UTR = untranslated region.
↵* Numbers indicate CADD score.
↵† The high number of variants found in Family J was partially due to the close kinship among all 3 affected family members (father and 2 siblings).