| 基因名 | 突变 |
|---|---|
| CLDN5(NM_001130861,claudin 5,303aa) | g.22:19511550C>T,c.484G>A,p.V162M |
| CLDN4(NM_001305,claudin 4,209aa) | g.7:73245868G>A,c.337G>A,p.A113T |
| CLDN4(NM_001305,claudin 4,209aa) | g.7:73245814G>A,c.283G>A,p.V95M |
| CLDN4(NM_001305,claudin 4,209aa) | g.7:73245799G>A,c.268G>A,p.V90M |
| CLDN4(NM_001305,claudin 4,209aa) | g.7:73245622C>T,c.91C>T,p.R31C |
| CLDN4(NM_001305,claudin 4,209aa) | g.7:73245592G>A,c.61G>A,p.V21I |
| CLDN3(NM_001306,claudin 3,220aa) | g.7:73184227C>T,c.153G>A,p.M51I |
| CLDN3(NM_001306,claudin 3,220aa) | g.7:73184091C>A,c.289G>T,p.A97S |
| CLDN3(NM_001306,claudin 3,220aa) | g.7:73183979G>A,c.401C>T,p.P134L |
| CLDN2(NM_001171092,claudin 2,230aa) | g.X:106172044G>A,c.586G>A,p.D196N |
| CLDN25(NM_001101389,claudin 25,229aa) | g.11:113650896G>A,c.379G>A,p.A127T |
| CLDN25(NM_001101389,claudin 25,229aa) | g.11:113650872G>C,c.355G>C,p.G119R |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184243528G>A,c.52C>T,p.L18F |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184243291C>T,c.289G>A,p.V97I |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184243189T>C,c.391A>G,p.I131V |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184243068A>G,c.512T>C,p.F171S |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184243006C>T,c.574G>A,p.A192T |
| CLDN24(NM_001185149,claudin 24,220aa) | g.4:184242959C>G,c.621G>C,p.Q207H |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8560602C>T,c.694C>T,p.P232S |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8560536G>A,c.628G>A,p.V210M |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8560467G>A,c.559G>A,p.E187K |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8560176G>A,c.268G>A,p.A90T |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8560084G>A,c.176G>A,p.R59H |
| CLDN23(NM_194284,claudin 23,292aa) | g.8:8559988C>T,c.80C>T,p.A27V |
| CLDN22(NM_001111319,claudin 22,220aa) | g.4:184240842A>G,c.530T>C,p.L177P |
| CLDN20(NM_001001346,claudin 20,219aa) | g.6:155597134G>A,c.281G>A,p.G94E |
| CLDN20(NM_001001346,claudin 20,219aa) | g.6:155597005G>A,c.152G>A,p.W51X |
| CLDN20(NM_001001346,claudin 20,219aa) | g.6:155596864C>G,c.11C>G,p.A4G |