| 基因名 | 突变 |
|---|---|
| TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) | g.13:114149937C>T,c.41C>T,p.P14L |
| TMCO3(NM_017905,transmembrane and coiled-coil domains 3,677aa) | g.13:114149919T>G,c.23T>G,p.F8C |
| TMCO2(NM_001008740,transmembrane and coiled-coil domains 2,182aa) | g.1:40717165C>A,c.448C>A,p.Q150K |
| TMCO2(NM_001008740,transmembrane and coiled-coil domains 2,182aa) | g.1:40717144C>G,c.427C>G,p.L143V |
| TMCO2(NM_001008740,transmembrane and coiled-coil domains 2,182aa) | g.1:40716970G>A,c.253G>A,p.V85I |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:95044161A>C,c.46T>G,p.Y16D |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94976308G>A,c.85C>T,p.R29C |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94976125C>T,c.268G>A,p.D90N |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94976070G>A,c.323C>T,p.A108V |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94975829C>T,c.564G>A,p.M188I |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94975791T>C,c.602A>G,p.N201S |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94975574A>T,c.819T>A,p.F273L |
| TMCC3(NM_020698,transmembrane and coiled-coil domain family 3,477aa) | g.12:94965488C>T,c.1157G>A,p.R386H |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205241235G>A,c.2113G>A,p.V705M |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205240947G>A,c.1825G>A,p.V609M |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205238732G>A,c.1402G>A,p.V468I |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205238627C>T,c.1297C>T,p.R433C |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205238441C>T,c.1111C>T,p.R371W |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205238169C>T,c.839C>T,p.P280L |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205211164G>A,c.739G>A,p.G247R |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205197866C>G,c.174C>G,p.N58K |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205197808C>T,c.116C>T,p.T39M |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205197807A>G,c.115A>G,p.T39A |
| TMCC2(NM_014858,transmembrane and coiled-coil domain family 2,709aa) | g.1:205197762G>A,c.70G>A,p.A24T |
| TMCC1(NM_001017395,transmembrane and coiled-coil domain family 1,653aa) | g.3:129546729T>C,c.493A>G,p.S165G |
| TMCC1(NM_001017395,transmembrane and coiled-coil domain family 1,653aa) | g.3:129546701G>A,c.521C>T,p.A174V |
| TMCC1(NM_001017395,transmembrane and coiled-coil domain family 1,653aa) | g.3:129370346C>T,c.1940G>A,p.R647Q |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76136994C>T,c.1982C>T,p.P661L |