| 基因名 | 突变 |
|---|---|
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115372177T>C,c.3314A>G,p.K1105R |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115372156G>A,c.3335C>T,p.A1112V |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115372106C>T,c.3385G>A,p.A1129T |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115372037G>C,c.3454C>G,p.L1152V |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115370274T>C,c.3547A>G,p.I1183V |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115370264G>A,c.3557C>T,p.T1186M |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115366006G>T,c.3738C>A,p.H1246Q |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115365567G>A,c.3869C>T,p.A1290V |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115364600T>G,c.3995A>C,p.Q1332P |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115364585A>G,c.4010T>C,p.M1337T |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115364552C>T,c.4043G>A,p.R1348K |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115355485C>T,c.4433G>A,p.R1478H |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115355479T>C,c.4439A>G,p.Y1480C |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115352005A>G,c.4592T>C,p.L1531P |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115350645G>A,c.4648C>T,p.R1550W |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115350597G>A,c.4696C>T,p.R1566C |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115349478G>A,c.5035C>T,p.R1679W |
| NRAP(NM_001261463,nebulin-related anchoring protein,1731aa) | g.10:115349462A>T,c.5051T>A,p.L1684Q |
| NR6A1(NM_033334,nuclear receptor subfamily 6, group A, member 1,480aa) | g.9:127287147T>C,c.1207A>G,p.R403G |
| NR5A2(NM_205860,nuclear receptor subfamily 5, group A, member 2,541aa) | g.1:200017834G>C,c.998G>C,p.R333P |
| NR5A2(NM_205860,nuclear receptor subfamily 5, group A, member 2,541aa) | g.1:200017566C>T,c.730C>T,p.P244S |
| NR5A2(NM_205860,nuclear receptor subfamily 5, group A, member 2,541aa) | g.1:200008881C>T,c.160C>T,p.R54X |
| NR5A2(NM_205860,nuclear receptor subfamily 5, group A, member 2,541aa) | g.1:199997003T>A,c.28T>A,p.L10I |
| NR5A1(NM_004959,nuclear receptor subfamily 5, group A, member 1,461aa) | g.9:127265377C>G,c.225G>C,p.T75T |
| NR5A1(NM_004959,nuclear receptor subfamily 5, group A, member 1,461aa) | g.9:127262871C>G,c.368G>C,p.G123A |
| NR5A1(NM_004959,nuclear receptor subfamily 5, group A, member 1,461aa) | g.9:127262864C>T,c.375G>A,p.P125P |
| NR5A1(NM_004959,nuclear receptor subfamily 5, group A, member 1,461aa) | g.9:127262853G>A,c.386C>T,p.P129L |
| NR5A1(NM_004959,nuclear receptor subfamily 5, group A, member 1,461aa) | g.9:127262802C>G,c.437G>C,p.G146A |