From: GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
Allele 1 | Allele 2 | |||||||
---|---|---|---|---|---|---|---|---|
nucleotide change | consequence or amino acid change | category | domain | nucleotide change | consequence or amino acid change | Category | domain | Number of patientsd |
homozygous | Â | Â | Â | Â | Â | Â | Â | Â |
c.35delG | frame-shift | pathogenic | NT | c.35delG | frame-shift | Pathogenic | Â | 2 |
c.176_c.191del16 | fram shift | pathogenic | EC1 | c.176_c.191del16 | frame-shift | Pathogenic | EC1 | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.235delC | frame-shift | Pathogenic | TM2 | 164 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.299_c.300delAT | frame-shift | pathogenic | CL | 8 |
c.512_c.513insAACG | frame-shift | pathogenic | EC2 | c.512_c.513insAACG | frame-shift | pathogenic | EC2 | 1 |
c.605_c.606ins46 | frame-shift | pathogenic | TM4 | c.605_c.606ins46 | frame-shift | pathogenic | TM4 | 1 |
compound heterozygous | ||||||||
c.9G>A, c.79G>A | p.W3X, p.V27I | pathogenic, polymophism | NT, TM1 | c.427C>T | p.R143W | pathogenic | TM3 | 1 |
c.35delG | frame-shift | pathogenic | NT | c.299_c.300delAT | frame-shift | pathogenic | CL | 1 |
c.35delG | frame-shift | pathogenic | NT | c.313_c.326del14 | frame-shift | pathogenic | CL | 1 |
c.176_c.191del16 | frame-shift | pathogenic | EC1 | c.9G>A, c.79G>A | p.W3X, p.V27I | pathogenic, polymophism | NT+TM1 | 2 |
c.176_c.191del16 | frame-shift | pathogenic | EC1 | c.299_c.300delAT | frame-shift | pathogenic | CL | 4 |
c.176_c.191del16 | frame-shift | pathogenic | EC1 | c.388_c.397del10 | frame-shift | pathogenic | Â | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.9G>A, c.79G>A | p.W3X, p.V27I | pathogenic, polymophism | NT+TM1 | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.35delG | frame-shift | pathogenic | NT | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.35insG | frame-shift | pathogenic | NT | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.94C>T | p.R32C | pathogenic | TM1 | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.99delT | frame-shift | pathogenic | TM1 | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.139G>T | p.E47X | pathogenic | EC1 | 3 |
c.235delC | frame-shift | pathogenic | TM2 | c.155_c.158delTCTG | frame-shift | pathogenic | EC1 | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.176_191del16 | frame-shift | pathogenic | EC1 | 18 |
c.235delC | frame-shift | pathogenic | TM2 | c.257C>G | p.T86R | pathogenic | TM2 | 6 |
c.235delC | frame-shift | pathogenic | TM2 | c.299_c.300delAT | frame-shift | pathogenic | CL | 65 |
c.235delC | frame-shift | pathogenic | TM2 | c.299_c.300delAT, c.79G>A | frame-shift, p.V27I | frame-shift, polymorphism | CL+TM1 | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.313_c.326del14 | frame-shift | pathogenic | CL | 1 |
c.235delC | frame-shift | pathogenic | TM2 | c.427C>T | p.R143W | pathogenic | TM3 | 3 |
c.235delC | frame-shift | pathogenic | TM2 | c.512_c.513insAACG | frame-shift | pathogenic | EC2 | 6 |
c.235delC | frame-shift | pathogenic | TM2 | c.605_c.606ins46 | frame-shift | pathogenic | TM4 | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.139G>A | p.E47K | pathogenic | EC1 | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.257C>G | p.T86R | pathogenic | TM2 | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.512_c.513insAACG | frame-shift | pathogenic | EC2 | 3 |
c.456C>A | p.Y152X | pathogenic | TM3, CL | c.380G>A, c.79G>A, c.341A>G | p.R127H, p.V27I, E114G | pathogenic, polymophism | TM1+CL | 1 |
heterozygous (one mutant allele only) | ||||||||
c.11G>A | p.G4D | pathogenic | NT | c.109G>A | p.V37I | see note | TM1 | 1 |
c.11G>A | p.G4D | pathogenic | NT | Nv | Â | Â | Â | 2 |
c.35delG | frame-shift | pathogenic | NT | c.79G>A, c.341A>G | p.V27I p,E114G | polymorphism | TM1+CL | 1 |
c.35delG | frame-shift | pathogenic | NT | Nv | Â | Â | Â | 4 |
c.155_c.158delTCTG | frame-shift | pathogenic | EC1 | c.341A>G, c.644T>A | p.E114G, p.I215N | polymorphism, unclassified | CL+CT | 1 |
c.176_c.191del16 | frame-shift | pathogenic | EC1 | Nv | Â | Â | Â | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.109G>A | p.V37I | see note | TM1 | 11 |
c.235delC | frame-shift | pathogenic | TM2 | c.79G>A | p.V27I | polymorphism | TM1 | 6 |
c.235delC | frame-shift | pathogenic | TM2 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 5 |
c.235delC | frame-shift | pathogenic | TM2 | c.341A>G | p.E114G | polymorphism | CL | 2 |
c.235delC | frame-shift | pathogenic | TM2 | c.558G>A | p.T186T | polymorphism | EC2 | 1 |
c.235delC | frame-shift | pathogenic | TM2 | Nv | Â | Â | Â | 43 |
c.253T>C | p.S85P | pathogenic | TM2 | Nv | Â | Â | Â | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.109G>A | p.V37I | see note | TM1 | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.299_c.300delAT | frame-shift | pathogenic | CL | Nv | Â | Â | Â | 4 |
c.380G>A, c.341A>G | p.R127H, p.E114G | pathogenic, polymophism | CL+CL | c.109G>A | p.V37I | see note | TM1 | 1 |
c.380G>A | p.R127H | pathogenic | CL | c.109G>A | p.V37I | see note | TM1 | 1 |
c.380G>A, c.109G>A | p.R127H, p.V37I | pathogenic, polymophism | TM1+CL | c.79G>A | p.V27I | polymorphism | TM1 | 1 |
c.380G>A, c.79G>A | p.R127H, p.V27I | pathogenic, polymophism | TM1+CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.380G>A | p.R127H | pathogenic | CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 9 |
c.380G>A, c.147C>T | p.R127H, p.A49A | pathogenic, polymophism | EC1+CL | c.79G>A | p.V27I | polymorphism | TM1 | 1 |
c.380G>A, c.608T>C | p.R127H, p.I203T | pathogenic, polymophism | CL+TM4 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.380G>A, c.608T>C | p.R127H, p.I203T | pathogenic, polymophism | CL+TM4 | c.79G>A | p.V27I | polymorphism | TM1 | 1 |
c.380G>A | p.R127H | pathogenic | CL | c.79G>A | p.V27I | polymorphism | TM1 | 4 |
c.380G>A | p.R127H | pathogenic | CL | c.457G>A | p.V153I | polymorphism | TM3 | 1 |
c.380G>A | p.R127H | pathogenic | CL | Nv | Â | Â | Â | 10 |
c.416G>A | p.S139N | pathogenic | CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.416G>A | p.S139N | pathogenic | CL | Nv | Â | Â | Â | 1 |
c.424_c.426del3 | p.del142F | pathogenic | TM3 | c.79G>A, c.341A>G, c.109G>A | p.V27I, p.E114G, p.V37I | polymorphisms, see note | TM1+CL | 3 |
c.424_c.426del3 | p.del142F | pathogenic | TM3 | c.79G>A, c.109G>A | p.V27I, p.V37I | polymorphisms, see note | TM1 | 1 |
c.512_c.513insAACG | frame-shift | pathogenic | EC2 | c.79G>A, c.368C>A | p.V27I, p.T123N | polymorphism, unclassified | TM1+CL | 1 |
c.512_c.513insAACG | frame-shift | pathogenic | EC2 | Nv | Â | Â | Â | 1 |
unclassified variant | ||||||||
c.61G>C, c.79G>A | p.G21R, p.V27I | unclassified, polymorphism | NT+TM1 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.88A>T | p.I30F | unclassified | TM1 | Nv | Â | Â | Â | 1 |
c.93T>G | p.F31L | unclassified | TM1 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.187G>T | p.V63L | unclassified | EC1 | Nv | Â | Â | Â | 2 |
c.368C>A, c.79G>A | p.T123N, p.V27I | unclassified, polymorphism | CL+TM1 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.368C>A, c.79G>A | p.T123N, p.V27I | unclassified, polymorphism | CL+TM1 | c.79G>A | p.V27I | polymorphism | TM1 | 3 |
c.368C>A | p.T123N | unclassified | CL | c.79G>A | p.V27I | polymorphism | TM1 | 7 |
c.368C>A, c.608T>C | p.T123N, p.I203T | unclassified, polymorphism | CL+TM4 | c.79G>A | p.V27I | polymorphism | TM1 | 1 |
c.458T>C | p.V153A | unclassified | EC2 | c.608T>C | p.I203T | polymorphism | TM4 | 1 |
c.571T>C, c.592G>A | p.F191L, p.V198M | unclassified | TM4+TM4 | c.79G>A | p.V27I | polymorphism | TM1 | 1 |
c.583A>G | p.M195V | unclassified | TM4 | Nv | Â | Â | Â | 1 |
c.583A>G | p.M195V | unclassified | TM4 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.592G>A, c.79G>A, c.341A>G | p.V198M, p.V27I, p.E114G | unclassified, polymorphism | TM4+TM1+CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.592G>A, c.79G>A | p.V198M, p.V27I | unclassified, polymorphism | TM4+TM1 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.592G>A | p.V198M | unclassified | TM4 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 2 |
c.475G>A | p.D159N | unclassified | EC2 | Nv | Â | Â | TM1+CL | 1 |
c644T>A, c.79G>A, c.341A>G | p.I215N, p.V27I, p.E114G | unclassified, polymorphism | CT+TM1+CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 1 |
c.644T>A | p.I215N | unclassified | CT | c.608T>C | p.I203T | polymorphism | TM4 | 1 |
c.109G>A | p.V37I | see note | TM1 | c.109G>A | p.V37I | see note | TM1 | 23 |
c.109G>A | p.V37I | see note | TM1 | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 29 |
c.109G>A | p.V37I | see note | TM1 | c.79G>A | p.V27I | polymorphism | TM1 | 10 |
c.109G>A | p.V37I | see note | TM1 | c.608T>C | p.I203T | polymorphism | TM4 | 3 |
c.109G>A | p.V37I | see note | TM1 | Nv | Â | Â | Â | 91 |
polymorphism | ||||||||
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | 90 |
c.79G>A | p.V27I | polymorphism | TM1 | c.79G>A | p.V27I | polymorphism | TM1 | 18 |
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | c.79G>A | p.V27I | polymorphism | TM1 | 42 |
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | c.341A>G | p.E114G | polymorphism | Â | 2 |
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | c.457G>A | p.V153I | polymorphism | TM3 | 1 |
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | c.608T>C | p.I203T | polymorphism | TM4 | 12 |
c.79G>A, c.341A>G | p.V27I, p.E114G | polymorphism | TM1+CL | Nv | Â | Â | Â | 387 |
c.79G>A | p.V27I | polymorphism | TM1 | c.608T>C | p.I203T | polymorphism | TM4 | 5 |
c.79G>A, c.608T>C | p.V27I | polymorphism | TM1+TM4 | c.608T>C | p.I203T | polymorphism | TM4 | 1 |
c.79G>A | p.V27I | polymorphism | TM1 | Nv | Â | Â | Â | 202 |
c.147C>T | p.A49A | polymorphism | EC1 | Nv | Â | Â | Â | 1 |
c.181A>G | p.K61K | polymorphism | EC1 | Nv | Â | Â | Â | 1 |
c.341A>G | p.E114G | polymorphism | CL | Nv | Â | Â | Â | 14 |
c.438C>T | p.F146F | polymorphism | TM3 | Nv | Â | Â | Â | 2 |
c.608T>C | p.I203T | polymorphism | TM4 | c.608T>C | p.I203T | polymorphism | TM4 | 3 |
c.608T>C | p.I203T | polymorphism | TM4 | Nv | Â | Â | Â | 28 |
nv | Â | Â | Â | Nv | Â | Â | Â | 638 |
total | Â | Â | Â | Â | Â | Â | Â | 2063 |