| 基因名 | 突变 |
|---|---|
| R3HDM4(NM_138774,R3H domain containing 4,268aa) | g.19:900860C>G,c.444G>C,p.R148S |
| R3HDM4(NM_138774,R3H domain containing 4,268aa) | g.19:900144C>T,c.478G>A,p.D160N |
| R3HDM4(NM_138774,R3H domain containing 4,268aa) | g.19:899445G>A,c.698C>T,p.S233L |
| R3HDM2(NM_014925,R3H domain containing 2,976aa) | g.12:57704109T>C,c.103A>G,p.T35A |
| R3HDM2(NM_014925,R3H domain containing 2,976aa) | g.12:57693183C>T,c.373G>A,p.D125N |
| R3HDM2(NM_014925,R3H domain containing 2,976aa) | g.12:57674256C>T,c.1187G>A,p.R396Q |
| R3HDM2(NM_014925,R3H domain containing 2,976aa) | g.12:57648723G>A,c.2764C>T,p.R922C |
| R3HDM2(NM_014925,R3H domain containing 2,976aa) | g.12:57648644C>T,c.2843G>A,p.R948H |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136481785T>G,c.3223T>G,p.S1075A |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136481664T>G,c.3102T>G,p.S1034R |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136481642G>A,c.3080G>A,p.R1027H |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136473258G>A,c.2770G>A,p.G924R |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136473140C>G,c.2652C>G,p.S884R |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136467716C>T,c.2546C>T,p.P849L |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136437833C>A,c.2293C>A,p.P765T |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136418952C>T,c.2036C>T,p.A679V |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136418868A>G,c.1952A>G,p.H651R |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136418858G>A,c.1942G>A,p.A648T |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136409574A>C,c.1895A>C,p.Q632P |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136399276G>A,c.1390G>A,p.A464T |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136393658A>G,c.808A>G,p.M270V |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136374313T>C,c.289T>C,p.S97P |
| R3HDM1(NM_015361,R3H domain containing 1,1099aa) | g.2:136362513T>C,c.98T>C,p.I33T |
| R3HCC1(NM_001136108,R3H domain and coiled-coil containing 1,253aa) | g.8:23150878T>G,c.527T>G,p.L176R |
| R3HCC1(NM_001136108,R3H domain and coiled-coil containing 1,253aa) | g.8:23150851C>T,c.500C>T,p.T167I |
| R3HCC1(NM_001136108,R3H domain and coiled-coil containing 1,253aa) | g.8:23149004C>T,c.422C>T,p.A141V |
| R3HCC1(NM_001136108,R3H domain and coiled-coil containing 1,253aa) | g.8:23148940G>A,c.358G>A,p.V120M |
| R3HCC1L(NM_001256619,R3H domain and coiled-coil containing 1-like,792aa) | g.10:99995886G>A,c.2276G>A,p.R759Q |