| 基因名 | 突变 |
|---|---|
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94792887G>A,c.781G>A,p.D261N |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94792828C>G,c.722C>G,p.A241G |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94784818G>C,c.653G>C,p.G218A |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94770768G>A,c.370G>A,p.E124K |
| TMEM66(NM_016127,transmembrane protein 66,339aa) | g.8:29927562G>A,c.296C>T,p.T99M |
| TMEM66(NM_016127,transmembrane protein 66,339aa) | g.8:29927221G>A,c.637C>T,p.R213C |
| TMEM64(NM_001008495,transmembrane protein 64,380aa) | g.8:91657599T>G,c.535A>C,p.I179L |
| TMEM64(NM_001008495,transmembrane protein 64,380aa) | g.8:91637978T>C,c.1064A>G,p.N355S |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77723057C>G,c.2409C>G,p.N803K |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77713017A>C,c.1601A>C,p.Q534P |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77712356A>G,c.1522A>G,p.M508V |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77710773G>A,c.1423G>A,p.A475T |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77710734G>A,c.1384G>A,p.G462S |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77709295A>G,c.1237A>G,p.I413V |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77709266G>A,c.1208G>A,p.R403H |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77708757G>A,c.1132G>A,p.V378I |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77706888G>A,c.1001G>A,p.R334H |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77706032G>A,c.893G>A,p.R298H |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77705950C>T,c.811C>T,p.H271Y |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77705059C>A,c.674C>A,p.T225N |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77697979C>G,c.399C>G,p.I133M |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77685295G>A,c.139G>A,p.A47T |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77685241G>A,c.85G>A,p.V29I |
| TMEM63C(NM_020431,transmembrane protein 63C,806aa) | g.14:77648238_77648240del,c.-77+1del,p.5'UTRDonordel |
| TMEM63B(NM_018426,transmembrane protein 63B,832aa) | g.6:44116345A>C,c.1217A>C,p.N406T |
| TMEM63B(NM_018426,transmembrane protein 63B,832aa) | g.6:44116047G>A,c.1046G>A,p.R349Q |
| TMEM63B(NM_018426,transmembrane protein 63B,832aa) | g.6:44115169G>A,c.919G>A,p.V307M |
| TMEM63B(NM_018426,transmembrane protein 63B,832aa) | g.6:44107220G>T,c.424G>T,p.D142Y |