| 基因名 | 突变 |
|---|---|
| TBX6(NM_004608,T-box 6,436aa) | g.16:30097869G>A,c.1061C>T,p.A354V |
| TBX6(NM_004608,T-box 6,436aa) | g.16:30097646G>A,c.1211C>T,p.A404V |
| TBX6(NM_004608,T-box 6,436aa) | g.16:30097589G>A,c.1268C>T,p.A423V |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114841688C>T,c.16G>A,p.E6K |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114841636G>T,c.68C>A,p.P23H |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114837349C>A,c.331G>T,p.D111Y |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114804183C>T,c.769G>A,p.V257M |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114804161C>T,c.791G>A,p.R264K |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114804125C>T,c.827G>A,p.S276N |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114804057C>T,c.895G>A,p.G299S |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114793543C>T,c.1351G>A,p.G451R |
| TBX5(NM_000192,T-box 5,518aa) | g.12:114793371A>G,c.1523T>C,p.V508A |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59557606C>T,c.947C>T,p.P316L |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59557600C>T,c.941C>T,p.A314V |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59556060G>A,c.622G>A,p.G208S |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59534026G>A,c.175G>A,p.A59T |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59533955C>T,c.104C>T,p.A35V |
| TBX4(NM_018488,T-box 4,545aa) | g.17:59533868G>C,c.17G>C,p.G6A |
| TBX3(NM_016569,T-box 3,743aa) | g.12:115112554A>T,c.1186T>A,p.S396T |
| TBX3(NM_016569,T-box 3,743aa) | g.12:115112472C>T,c.1268G>A,p.R423Q |
| TBX3(NM_016569,T-box 3,743aa) | g.12:115112140T>C,c.1600A>G,p.M534V |
| TBX3(NM_016569,T-box 3,743aa) | g.12:115112055G>A,c.1685C>T,p.A562V |
| TBX3(NM_016569,T-box 3,743aa) | g.12:115110028G>A,c.1850C>T,p.A617V |
| TBX2(NM_005994,T-box 2,712aa) | g.17:59485758C>T,c.2030C>T,p.P677L |
| TBX2(NM_005994,T-box 2,712aa) | g.17:59485721C>T,c.1993C>T,p.R665C |
| TBX2(NM_005994,T-box 2,712aa) | g.17:59485575G>A,c.1847G>A,p.R616Q |
| TBX2(NM_005994,T-box 2,712aa) | g.17:59485538G>A,c.1810G>A,p.G604S |
| TBX2(NM_005994,T-box 2,712aa) | g.17:59482923C>G,c.1412C>G,p.S471C |