| 基因名 | 突变 |
|---|---|
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76120658C>T,c.838G>A,p.A280T |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76120199G>A,c.953C>T,p.P318L |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76118766C>T,c.1147G>A,p.V383I |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76118694G>A,c.1219C>T,p.R407W |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76117686G>A,c.1334C>T,p.A445V |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76117158G>A,c.1471C>T,p.R491C |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76117124G>A,c.1505C>T,p.P502L |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76115441C>T,c.1748G>A,p.R583Q |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76115096C>T,c.1843G>A,p.A615T |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76113652G>A,c.2095C>T,p.R699C |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76109263G>A,c.2384C>T,p.P795L |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19501848T>C,c.2705T>C,p.I902T |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19501838C>T,c.2695C>T,p.R899W |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19498636T>C,c.2561T>C,p.I854T |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19490786C>T,c.2203C>T,p.R735W |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19490769T>C,c.2186T>C,p.I729T |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19485597C>T,c.2089C>T,p.R697X |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19485571G>A,c.2063G>A,p.R688Q |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19485570C>T,c.2062C>T,p.R688W |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19483485A>G,c.1858A>G,p.M620V |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19483450C>T,c.1823C>T,p.T608M |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19483429G>A,c.1802G>A,p.R601H |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19483428C>T,c.1801C>T,p.R601C |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19481052G>A,c.1687G>A,p.G563R |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19481030C>A,c.1665C>A,p.F555L |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19477515G>A,c.1597G>A,p.G533R |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19475174T>C,c.1313T>C,p.I438T |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19475138A>G,c.1277A>G,p.N426S |