| 基因名 | 突变 |
|---|---|
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128387261G>A,c.4588G>A,p.V1530I |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128384777C>T,c.4274C>T,p.T1425M |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128384649G>A,c.4237G>A,p.E1413K |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128384613C>T,c.4201C>T,p.R1401C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128382994G>A,c.4021G>A,p.A1341T |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128381773A>G,c.3847A>G,p.I1283V |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128381756G>A,c.3830G>A,p.R1277H |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128381717G>A,c.3791G>A,p.R1264Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128381713G>A,c.3787G>A,p.A1263T |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128380945G>A,c.3736G>A,p.D1246N |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128379615G>A,c.3506G>A,p.R1169H |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128379563C>G,c.3454C>G,p.L1152V |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128377965C>A,c.3371C>A,p.T1124K |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128370112G>A,c.3254G>A,p.R1085Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128367243del,c.2977del,p.993fs |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128367144G>A,c.2878G>A,p.E960K |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128366416T>C,c.2777T>C,p.I926T |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128351149T>G,c.2174T>G,p.L725R |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128346098C>T,c.1822C>T,p.R608C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128341769G>C,c.1416G>C,p.M472I |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128341722G>A,c.1369G>A,p.A457T |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128339967G>A,c.1289G>A,p.R430Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128335858A>G,c.1000A>G,p.M334V |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128335763G>A,c.905G>A,p.R302H |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128321770G>A,c.61G>A,p.G21S |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76925733G>A,c.6640G>A,p.G2214S |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76922353C>T,c.6208C>T,p.R2070W |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76922327G>A,c.6182G>A,p.R2061Q |