| Genename | Variants |
|---|---|
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61457203C>T,c.665C>T,p.P222L |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61453946C>T,c.481C>T,p.H161Y |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61453481G>A,c.442G>A,p.G148S |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61453149T>C,c.410T>C,p.L137P |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61452555C>T,c.332C>T,p.P111L |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61451333G>A,c.308G>A,p.R103Q |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61451332C>T,c.307C>T,p.R103W |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61451305C>T,c.280C>T,p.P94S |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61448950C>T,c.110C>T,p.P37L |
| COL9A3(NM_001853,collagen, type IX, alpha 3,684aa) | g.20:61448466G>A,c.50G>A,p.G17E |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40781324C>T,c.88G>A,p.G30R |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40776766G>A,c.629C>T,p.P210L |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40775937G>A,c.737C>T,p.T246M |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40773150G>A,c.976C>T,p.Q326X |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40773149T>C,c.977A>G,p.Q326R |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40773149_40773150TG>CA,c.976_977CA>TG,p.Q326W |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40773123G>C,c.1003C>G,p.L335V |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40771858C>G,c.1010G>C,p.G337A |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40770042G>A,c.1237C>T,p.P413S |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40768483_40768484insGGAG,c.1604-2insCTCC,p.535Acceptorins |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40768344C>T,c.1741G>A,p.V581I |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40768332C>A,c.1753G>T,p.V585L |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40767041C>T,c.1883G>A,p.R628Q |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40766972C>T,c.1952G>A,p.R651Q |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40766942G>A,c.1982C>T,p.P661L |
| COL9A2(NM_001852,collagen, type IX, alpha 2,689aa) | g.1:40766888C>T,c.2036G>A,p.R679H |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:71011704T>C,c.88A>G,p.R30G |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:71004222G>A,c.344C>T,p.T115M |