| Genename | Variants |
|---|---|
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110818594C>T,c.4006G>A,p.V1336I |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110815825G>A,c.4234C>T,p.P1412S |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110807727G>A,c.4658C>T,p.A1553V |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110807679G>A,c.4706C>T,p.P1569L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110804709C>T,c.4900G>A,p.A1634T |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110802780G>A,c.4940C>T,p.P1647L |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189875421T>G,c.4059T>G,p.H1353Q |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189875092G>T,c.4011+1G>T,p.1337Donor |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189875018A>G,c.3938A>G,p.K1313R |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189873900C>T,c.3776C>T,p.A1259V |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189873750G>C,c.3626G>C,p.G1209A |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189873737A>G,c.3613A>G,p.I1205V |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189872269G>A,c.3299G>A,p.R1100H |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189871110G>A,c.3133G>A,p.A1045T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189870953C>A,c.3061C>A,p.L1021I |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189867733A>G,c.2498A>G,p.K833R |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189864080G>A,c.2092G>A,p.A698T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189864023G>A,c.2035G>A,p.A679T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189863424C>A,c.2002C>A,p.P668T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189861933C>A,c.1804C>A,p.P602T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189861158C>T,c.1697C>T,p.P566L |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189855743G>A,c.812G>A,p.R271Q |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189851845G>A,c.508G>A,p.A170T |
| COL3A1(NM_000090,collagen, type III, alpha 1,1466aa) | g.2:189849623G>C,c.217G>C,p.D73H |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48398088G>T,c.17C>A,p.A6D |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48398080T>A,c.25A>T,p.T9S |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48391657T>A,c.426A>T,p.E142D |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48390390C>T,c.550G>A,p.A184T |