| Genename | Variants |
|---|---|
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943319C>T,c.1715C>T,p.A572V |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943283C>T,c.1679C>T,p.P560L |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943089G>A,c.1652G>A,p.R551H |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943041C>T,c.1604C>T,p.S535L |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61941754G>A,c.1285G>A,p.A429T |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61941217C>A,c.1213C>A,p.L405I |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61940020G>A,c.902G>A,p.R301H |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61939986G>A,c.868G>A,p.G290S |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61939428G>A,c.761G>A,p.G254E |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61939416G>A,c.749G>A,p.R250H |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61939410G>A,c.743G>A,p.R248H |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61938871G>A,c.526G>A,p.V176M |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61938856C>T,c.511C>T,p.R171C |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61937296C>T,c.401C>T,p.P134L |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61937253T>A,c.358T>A,p.S120T |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61929348C>A,c.169C>A,p.L57M |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94059656G>A,c.4052G>A,p.G1351D |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94059652G>A,c.4048G>A,p.G1350S |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94059622del,c.4018del,p.1340fs |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94056984G>A,c.3313G>A,p.G1105S |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94056567C>A,c.3227C>A,p.P1076H |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94056353G>A,c.3139G>A,p.V1047M |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94055751G>A,c.3014G>A,p.R1005H |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94054508A>G,c.2753A>G,p.N918S |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94054472G>A,c.2717G>A,p.R906H |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94054442C>T,c.2687C>T,p.P896L |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94050334C>T,c.2309C>T,p.P770L |
| COL1A2(NM_000089,collagen, type I, alpha 2,1366aa) | g.7:94049588G>A,c.2123G>A,p.R708Q |