| Genename | Variants |
|---|---|
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94043239C>G,c.1645C>G,p.P549A |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94043027A>G,c.1583A>G,p.N528S |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94042446C>T,c.1555C>T,p.R519W |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94038649G>A,c.808G>A,p.V270I |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94033892C>T,c.304C>T,p.P102S |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48278798C>T,c.77G>A,p.G26D |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48275339G>C,c.613C>G,p.P205A |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48272956del,c.1127del,p.376fs |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48272692C>A,c.1201-1G>T,p.401Acceptor |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48272643G>C,c.1249C>G,p.P417A |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48272406A>C,c.1353+2T>G,p.451Donor |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48272190C>A,c.1354-1G>T,p.452Acceptor |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48270353A>C,c.1821+2T>G,p.607Donor |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48270048C>T,c.1882G>A,p.A628T |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48269160C>T,c.2116G>A,p.D706N |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48266301del,c.3008del,p.1003fs |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48266108C>T,c.3094G>A,p.A1032T |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48265495T>C,c.3223A>G,p.T1075A |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48264231del,c.3584del,p.1195fs |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48264078C>T,c.3737G>A,p.R1246Q |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48264049C>T,c.3766G>A,p.A1256T |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48263704C>T,c.3979G>A,p.G1327S |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48263677C>A,c.4005+1G>T,p.1335Donor |
| COL1A1(NM_000088,collagen, type I, alpha 1,1464aa) | g.17:48263369C>T,c.4018G>A,p.G1340S |
| COL19A1(NM_001858,collagen, type XIX, alpha 1,1142aa) | g.6:70916922C>A,c.3373C>A,p.P1125T |
| COL19A1(NM_001858,collagen, type XIX, alpha 1,1142aa) | g.6:70916893G>A,c.3344G>A,p.G1115D |
| COL19A1(NM_001858,collagen, type XIX, alpha 1,1142aa) | g.6:70916662C>T,c.3281C>T,p.P1094L |
| COL19A1(NM_001858,collagen, type XIX, alpha 1,1142aa) | g.6:70894806G>A,c.2855G>A,p.R952H |