| Genename | Variants |
|---|---|
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56044588G>A,c.428C>T,p.T143M |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56035643A>G,c.830T>C,p.L277P |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56035599T>G,c.874A>C,p.K292Q |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56033094G>A,c.1028C>T,p.T343M |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56031702A>C,c.1278+2T>G,p.426Donor |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:56029264G>A,c.1328C>T,p.P443L |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55988870G>C,c.1748C>G,p.P583R |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55933899G>A,c.2036C>T,p.T679M |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55925801G>T,c.2240C>A,p.A747D |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55924962A>G,c.2462T>C,p.L821P |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55924891G>T,c.2533C>A,p.P845T |
| COL21A1(NM_030820,collagen, type XXI, alpha 1,957aa) | g.6:55923968G>C,c.2681C>G,p.P894R |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61960975C>T,c.3820C>T,p.Q1274X |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61957486_61957487insC,c.3441_3442insC,p.1147fs |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61957026C>G,c.3355C>G,p.P1119A |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61951688G>A,c.3121G>A,p.D1041N |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61950513G>A,c.2767G>A,p.A923T |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61950484G>A,c.2738G>A,p.R913H |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61948007C>T,c.2627C>T,p.T876M |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61946779G>A,c.2512G>A,p.G838S |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61945439G>C,c.2374G>C,p.A792P |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61944494C>T,c.2102C>T,p.T701M |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61944243A>G,c.2033A>G,p.Y678C |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61944156G>A,c.1946G>A,p.S649N |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943878C>T,c.1910C>T,p.T637M |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943835A>G,c.1867A>G,p.T623A |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943803C>T,c.1835C>T,p.T612M |
| COL20A1(NM_020882,collagen, type XX, alpha 1,1284aa) | g.20:61943325G>A,c.1721G>A,p.R574Q |