基因名 |
突变 |
TMEM119(NM_181724,transmembrane protein 119,283aa) |
g.12:108985733G>A,c.427C>T,p.R143W |
TMEM117(NM_032256,transmembrane protein 117,514aa) |
g.12:44782177C>T,c.1267C>T,p.R423C |
TMEM117(NM_032256,transmembrane protein 117,514aa) |
g.12:44770496T>C,c.887T>C,p.I296T |
TMEM117(NM_032256,transmembrane protein 117,514aa) |
g.12:44338096A>G,c.361A>G,p.I121V |
TMEM117(NM_032256,transmembrane protein 117,514aa) |
g.12:44238723G>A,c.269G>A,p.R90H |
TMEM116(NM_001193531,transmembrane protein 116,337aa) |
g.12:112429592G>C,c.180C>G,p.I60M |
TMEM116(NM_001193531,transmembrane protein 116,337aa) |
g.12:112375990A>C,c.340T>G,p.C114G |
TMEM116(NM_001193531,transmembrane protein 116,337aa) |
g.12:112371786T>C,c.637A>G,p.T213A |
TMEM116(NM_001193531,transmembrane protein 116,337aa) |
g.12:112371696C>T,c.727G>A,p.G243S |
TMEM116(NM_001193531,transmembrane protein 116,337aa) |
g.12:112369505G>T,c.934C>A,p.Q312K |
TMEM115(NM_007024,transmembrane protein 115,351aa) |
g.3:50395999C>T,c.496G>A,p.V166I |
TMEM115(NM_007024,transmembrane protein 115,351aa) |
g.3:50392842G>A,c.988C>T,p.P330S |
TMEM115(NM_007024,transmembrane protein 115,351aa) |
g.3:50392784G>A,c.1046C>T,p.P349L |
TMEM110(NM_198563,transmembrane protein 110,294aa) |
g.3:52872001_52872018del,c.*2491-1del,p.3'UTRAcceptordel |
TMEM110-MUSTN1(NM_001198974,TMEM110-MUSTN1 readthrough,372aa) |
g.3:52883862C>T,c.373G>A,p.V125I |
TMEM110-MUSTN1(NM_001198974,TMEM110-MUSTN1 readthrough,372aa) |
g.3:52876853C>T,c.742G>A,p.A248T |
TMEM109(NM_024092,transmembrane protein 109,243aa) |
g.11:60689534C>T,c.629C>T,p.A210V |
TMEM109(NM_024092,transmembrane protein 109,243aa) |
g.11:60689426C>T,c.521C>T,p.A174V |
TMEM109(NM_024092,transmembrane protein 109,243aa) |
g.11:60687275G>A,c.110G>A,p.R37Q |
TMEM109(NM_024092,transmembrane protein 109,243aa) |
g.11:60687203A>C,c.38A>C,p.H13P |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133114726C>T,c.1624C>T,p.R542C |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133099522G>A,c.967G>A,p.G323S |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133099417G>A,c.862G>A,p.G288S |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133098806C>T,c.251C>T,p.P84L |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133098772C>A,c.217C>A,p.P73T |
TMEM108(NM_023943,transmembrane protein 108,575aa) |
g.3:133098661G>C,c.106G>C,p.E36Q |
TMEM107(NM_032354,transmembrane protein 107,146aa) |
g.17:8079179C>T,c.170G>A,p.C57Y |
TMEM106C(NM_001143842,transmembrane protein 106C,250aa) |
g.12:48361002C>T,c.614C>T,p.T205M |