| 基因名 | 突变 |
|---|---|
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114057952C>T,c.797C>T,p.T266M |
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114053512T>A,c.500T>A,p.I167N |
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114045902C>T,c.341C>T,p.P114L |
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114045865G>A,c.304G>A,p.V102I |
| TECTB(NM_058222,tectorin beta,329aa) | g.10:114045835C>A,c.274C>A,p.P92T |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121061505C>T,c.6458C>T,p.T2153M |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121061448C>T,c.6401C>T,p.T2134M |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121058575G>A,c.6034G>A,p.E2012K |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121039543G>A,c.5908G>A,p.A1970T |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121039460A>T,c.5825A>T,p.Y1942F |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121037391G>A,c.5488G>A,p.V1830M |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121037374G>A,c.5471G>A,p.G1824D |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121033013G>A,c.5206G>A,p.A1736T |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121032978G>A,c.5171G>A,p.S1724N |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121032968G>A,c.5161G>A,p.G1721S |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121032819C>T,c.5012C>T,p.S1671L |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121030967G>A,c.4813G>A,p.V1605I |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121028725T>C,c.4481T>C,p.V1494A |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121028559C>A,c.4315C>A,p.L1439I |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121016276C>T,c.3556C>T,p.R1186W |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121008699G>A,c.3511G>A,p.V1171M |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121008505G>A,c.3317G>A,p.G1106D |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121008285C>T,c.3097C>T,p.R1033W |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121008155C>A,c.2967C>A,p.H989Q |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121000902C>T,c.2923C>T,p.R975W |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121000774T>C,c.2795T>C,p.V932A |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121000728G>A,c.2749G>A,p.D917N |
| TECTA(NM_005422,tectorin alpha,2155aa) | g.11:121000527G>A,c.2548G>A,p.G850S |