From: Variant analysis of 92 Chinese Han families with hearing loss
Patient ID | Sex | Age | Age of diagnoses | Gene | Inheritance | NM Transcrip | Nucleotide change | Amino acid change | Variant type | gnomAD allele frequency | Reported or not | Disease | Pedigree |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
12471 | M | 5.5Y | 2.5y | POU3F4 | XLD | NM_000307 | c.881A>G | p.E294G | Missense | – | Novel | X-linked deafness-2 | Nuclear family |
12480 | F | 4Y | Birth | USH2A | AR | NM_206933 | c.8167C>T | p.R2723X | Nonsense | – | [15] | Usher syndrome 2A | Sporadic case |
USH2A | AR | NM_206933 | c.99_100insT | p.R34fs | Frameshift | 0.00003 | [16] | ||||||
12513 | F | 6Y | 5Y | OTOA | AR | NM_144672 | c.774A>C | p.L258F | Missense | – | Novel | Autosomal recessive deafness-22 | Nuclear family |
OTOA | AR | NM_144672 | c.1764delC | p.F588fs | Frameshift | 0.000012 | [17] | ||||||
12601 | F | 33Y | 33Y | GPR98 | AR | NM_032119 | c.12640C>T | p.Q4214X | Nonsense | – | Novel | Usher syndrome 2C | Sporadic case |
GPR98 | AR | NM_032119 | c.14404C>T | p.R4802X | Nonsense | – | [18] | ||||||
12606 | M | 8Y | 8Y | GJB6 | AD | NM_001110219 | c.228delC | p.W77Gfs | Frameshift | 0.00000725 | Novel | Autosomal dominant deafness-3B | Nuclear family |
12622 | F | 5Y | 1Y | CDH23 | AR | NM_022124 | c.805C>T | p.R269W | Missense | 0.000007 | Novel | Autosomal recessive deafness-12 | Nuclear family |
CDH23 | AR | NM_022124 | c.5994delG | p.V1998fs | Frameshift | – | Novel | ||||||
12712 | F | 28Y | 25Y | TRIOBP | AR | NM_001039141 | c.1960C>T | p.R654X | Nonsense | 0.000007 | Novel | Autosomal recessive deafness-28 | Sporadic case |
TRIOBP | AR | NM_001039141 | c.5968delT | p.F1990fs | Frameshift | – | Novel | ||||||
12751 | F | 10Y | 1Y | SLC26A4 | AR | NM_000441 | c.589G>A | p.G197R | Missense | 0.000004 | Pendred syndrome | Nuclear family | |
SLC26A4 | AR | NM_000441 | c.1238A>G | p.Q413R | Missense | 0.000007 | |||||||
12761 | M | 3Y | 6M | CDH23 | AR | NM_022124 | c.5957T>C | p.L1986P | Missense | – | Novel | Autosomal recessive deafness-12 | Nuclear family |
CDH23 | AR | NM_022124 | c.6830C>A | p.A2277D | Missense | – | Novel | ||||||
12792 | F | 24Y | 6Y | USH2A | AR | NM_206933 | c.8559-2A>G | Splice | Splice site | – | [22] | Usher syndrome 2A | Sporadic case |
USH2A | AR | NM_206933 | c.3791delC | p.S1264fs | Frameshift | – | Novel | ||||||
12802 | F | 5Y | Birth | MYO15A | AR | NM_016239 | c.6611G>A | p.R2204H | Missense | – | Novel | Autosomal recessive deafness-3 | Sporadic case |
MYO15A | AR | NM_016239 | c.10251_10253del | p.3417_3418del | nonframeshift | 0.000007 | |||||||
12812 | F | 27Y | 6Y | LOXHD1 | AR | NM_144612 | c.2295G>A | p.W765X | Nonsense | – | Novel | Autosomal recessive deafness-77 | Sporadic case |
LOXHD1 | AR | NM_144612 | c.134A>C | p.Y45S | Missense | – | Novel | ||||||
12834 | M | 31Y | 31Y | TMC1 | AR | NM_138691 | c.236+1G>C | Splice | Splice site | – | [23] | Autosomal recessive deafness-7 | Sporadic case |
TMC1 | AR | NM_138691 | c.741+2T>C | Splice | Splice site | – | Novel | ||||||
12852 | M | 4Y | 1Y | LOXHD1 | AR | NM_144612 | c.6355delG | p.A2119fs | Frameshift | – | Novel | Autosomal recessive deafness-77 | Nuclear family |
LOXHD1 | AR | NM_144612 | c.5888delG | p.G1963fs | Frameshift | 0.0000065 | ClinVar | ||||||
12918 | M | 54Y | 54Y | TNC | AD | NM_002160 | c.1641C>A | p.C547X | Nonsense | 0.000004 | Novel | Autosomal dominant deafness-56 | Sporadic case |
12929 | F | 3Y | 1Y | TMC1 | AR | NM_138691 | c.100C>T | p.R34X | Nonsense | 0.000004 | Autosomal recessive deafness-7 | Nuclear family | |
TMC1 | AR | NM_138691 | c.1810C>T | p.R604X | Nonsense | 0.00001 | [26] | ||||||
12932 | M | 11Y | 10Y | STRC | AR | NM_153700 | c.4778C>T | p.A1593V | Missense | 0.000004 | Novel | Autosomal recessive deafness-16 | Nuclear family |
STRC | AR | NM_153700 | CNV | – | CNV | – | |||||||
12933 | M | 3Y | 3Y | TMPRSS3 | AR | NM_024022 | c.916G>A | p.A306T | Missense | 0.000145 | Autosomal recessive deafness-8 | Nuclear family | |
TMPRSS3 | AR | NM_024022 | c.271C>T | p.R91X | Nonsense | 0.000004 | [27] |