| Genename | Variants |
|---|---|
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763380T>C,c.341A>G,p.E114G |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763353G>T,c.368C>A,p.T123N |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763341C>T,c.380G>A,p.R127H |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763305C>T,c.416G>A,p.S139N |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763264C>T,c.457G>A,p.V153I |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763243C>T,c.478G>A,p.G160S |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763234T>C,c.487A>G,p.M163V |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763228G>A,c.493C>T,p.R165W |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763113A>G,c.608T>C,p.I203T |
| GJB1(NM_000166,gap junction protein, beta 1, 32kDa,283aa) | g.X:70444213G>A,c.656G>A,p.R219H |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39341749C>T,c.22G>A,p.G8R |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39341217G>A,c.554C>T,p.P185L |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340761C>T,c.1010G>A,p.S337N |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340558G>A,c.1213C>T,p.P405S |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340507G>A,c.1264C>T,p.L422F |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340419G>A,c.1352C>T,p.T451I |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340381A>G,c.1390T>C,p.S464P |
| GJA9(NM_030772,gap junction protein, alpha 9, 59kDa,515aa) | g.1:39340282C>T,c.1489G>A,p.V497I |
| GJA8(NM_005267,gap junction protein, alpha 8, 50kDa,433aa) | g.1:147381076G>A,c.994G>A,p.E332K |
| GJA8(NM_005267,gap junction protein, alpha 8, 50kDa,433aa) | g.1:147380823T>G,c.741T>G,p.I247M |
| GJA8(NM_005267,gap junction protein, alpha 8, 50kDa,433aa) | g.1:147380740A>G,c.658A>G,p.N220D |
| GJA8(NM_005267,gap junction protein, alpha 8, 50kDa,433aa) | g.1:147380474A>G,c.392A>G,p.K131R |
| GJA5(NM_005266,gap junction protein, alpha 5, 40kDa,358aa) | g.1:147230554G>A,c.793C>T,p.P265S |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260769C>T,c.955C>T,p.P319S |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260586C>T,c.772C>T,p.P258S |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260563C>T,c.749C>T,p.P250L |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260346G>A,c.532G>A,p.G178S |
| GJA4(NM_002060,gap junction protein, alpha 4, 37kDa,333aa) | g.1:35260208C>T,c.394C>T,p.R132C |