| 基因名 | 突变 |
|---|---|
| TLN1(NM_006289,talin 1,2541aa) | g.9:35722198A>C,c.866T>G,p.M289R |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35717179C>T,c.2422G>A,p.V808I |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35712896A>G,c.3497T>C,p.I1166T |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35712027G>A,c.3656C>T,p.A1219V |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35712003G>A,c.3680C>T,p.S1227L |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35711593G>A,c.3878C>T,p.P1293L |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35711351C>T,c.3920G>A,p.G1307D |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35711300G>A,c.3971C>T,p.T1324M |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35707151G>A,c.4873C>T,p.R1625W |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35705570G>A,c.5711C>T,p.A1904V |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35704362T>C,c.6014A>G,p.N2005S |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35704049C>T,c.6170G>A,p.R2057H |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35703836G>A,c.6293C>T,p.T2098M |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35700195G>A,c.6653C>T,p.A2218V |
| TLN1(NM_006289,talin 1,2541aa) | g.9:35700005T>C,c.6734A>G,p.N2245S |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98192606G>T,c.478C>A,p.P160T |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98182461C>T,c.662G>A,p.R221Q |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98182398T>A,c.725A>T,p.H242L |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98182356C>T,c.767G>A,p.R256Q |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98172999C>T,c.998G>A,p.R333Q |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98157035G>A,c.1292C>T,p.P431L |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98156990C>T,c.1337G>A,p.R446H |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98155678G>A,c.1484C>T,p.T495M |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98154959C>T,c.1711G>A,p.A571T |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98145939C>G,c.1886G>C,p.G629A |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98145865C>T,c.1960G>A,p.A654T |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98136474G>A,c.2423C>T,p.S808L |
| TLL2(NM_012465,tolloid-like 2,1015aa) | g.10:98133537G>C,c.2478C>G,p.H826Q |