| 基因名 | 突变 |
|---|---|
| VANGL2(NM_020335,VANGL planar cell polarity protein 2,521aa) | g.1:160393931G>A,c.1163G>A,p.R388Q |
| VANGL2(NM_020335,VANGL planar cell polarity protein 2,521aa) | g.1:160390289G>A,c.889G>A,p.V297I |
| VANGL2(NM_020335,VANGL planar cell polarity protein 2,521aa) | g.1:160389323C>G,c.724C>G,p.L242V |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116233954A>G,c.1529A>G,p.K510R |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116233752C>T,c.1327C>T,p.R443W |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116227961A>G,c.1127A>G,p.Q376R |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116226658A>C,c.1040A>C,p.E347A |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116206717C>T,c.640C>T,p.R214W |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116206423G>A,c.346G>A,p.A116T |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116206326G>A,c.249G>A,p.S83S |
| VANGL1(NM_138959,VANGL planar cell polarity protein 1,524aa) | g.1:116202293C>T,c.103C>T,p.R35W |
| VAMP8(NM_003761,vesicle-associated membrane protein 8,100aa) | g.2:85808715C>T,c.179C>T,p.T60M |
| VAMP8(NM_003761,vesicle-associated membrane protein 8,100aa) | g.2:85806238G>A,c.110G>A,p.R37Q |
| VAMP8(NM_003761,vesicle-associated membrane protein 8,100aa) | g.2:85806163G>C,c.35G>C,p.R12P |
| VAMP5(NM_006634,vesicle-associated membrane protein 5,116aa) | g.2:85820239C>T,c.310C>T,p.R104W |
| VAMP5(NM_006634,vesicle-associated membrane protein 5,116aa) | g.2:85820108A>G,c.179A>G,p.Q60R |
| VAMP5(NM_006634,vesicle-associated membrane protein 5,116aa) | g.2:85818968G>A,c.124G>A,p.D42N |
| VAMP5(NM_006634,vesicle-associated membrane protein 5,116aa) | g.2:85818938G>A,c.94G>A,p.V32M |
| VAMP5(NM_006634,vesicle-associated membrane protein 5,116aa) | g.2:85818887G>A,c.43G>A,p.E15K |
| VAMP4(NM_003762,vesicle-associated membrane protein 4,141aa) | g.1:171688351A>G,c.124T>C,p.S42P |
| VAMP1(NM_199245,vesicle-associated membrane protein 1 (synaptobrevin 1),117aa) | g.12:6574105C>G,c.291G>C,p.M97I |
| VAC14(NM_018052,Vac14 homolog (S. cerevisiae),782aa) | g.16:70819763G>A,c.265C>T,p.L89F |
| VAC14(NM_018052,Vac14 homolog (S. cerevisiae),782aa) | g.16:70819670T>C,c.358A>G,p.I120V |
| VAC14(NM_018052,Vac14 homolog (S. cerevisiae),782aa) | g.16:70816992G>T,c.755C>A,p.S252Y |
| VAC14(NM_018052,Vac14 homolog (S. cerevisiae),782aa) | g.16:70732653G>A,c.1723C>T,p.R575W |
| UXT(NM_153477,ubiquitously-expressed, prefoldin-like chaperone,169aa) | g.X:47517237C>T,c.160G>A,p.V54I |
| UXS1(NM_001253876,UDP-glucuronate decarboxylase 1,252aa) | g.2:106739497T>C,c.169A>G,p.I57V |
| UXS1(NM_001253876,UDP-glucuronate decarboxylase 1,252aa) | g.2:106710531G>A,c.710C>T,p.P237L |