| 基因名 | 突变 |
|---|---|
| GNLY(NM_012483,granulysin,130aa) | g.2:85923181T>C,c.210+2T>C,p.70Donor |
| GNLY(NM_012483,granulysin,130aa) | g.2:85923169A>C,c.200A>C,p.K67T |
| GNLY(NM_012483,granulysin,130aa) | g.2:85923114C>T,c.145C>T,p.R49C |
| GNLY(NM_012483,granulysin,130aa) | g.2:85922544C>G,c.109C>G,p.Q37E |
| GNLY(NM_012483,granulysin,130aa) | g.2:85922121_85922122insA,c.7+2insA,p.3Donorins |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52728237G>T,c.1560G>T,p.L520F |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52727749C>T,c.1390C>T,p.R464W |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52727675G>C,c.1316G>C,p.S439T |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52727465_52727467del,c.1193_1195del,p.398_399del |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52727257G>A,c.1063G>A,p.V355M |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52727245G>C,c.1051G>C,p.E351Q |
| GNL3(NM_206825,guanine nucleotide binding protein-like 3 (nucleolar),537aa) | g.3:52721305G>A,c.80G>A,p.R27Q |
| GNL3L(NM_001184819,guanine nucleotide binding protein-like 3 (nucleolar)-like,582aa) | g.X:54578377C>T,c.1151C>T,p.A384V |
| GNL3L(NM_001184819,guanine nucleotide binding protein-like 3 (nucleolar)-like,582aa) | g.X:54578096G>A,c.959G>A,p.R320H |
| GNL3L(NM_001184819,guanine nucleotide binding protein-like 3 (nucleolar)-like,582aa) | g.X:54574666G>A,c.635G>A,p.R212H |
| GNL3L(NM_001184819,guanine nucleotide binding protein-like 3 (nucleolar)-like,582aa) | g.X:54574665C>T,c.634C>T,p.R212C |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38058381G>A,c.176C>T,p.P59L |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38049481C>T,c.623G>A,p.G208D |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38040333A>G,c.1235T>C,p.I412T |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38040285C>T,c.1283G>A,p.R428Q |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38034571C>G,c.1749G>C,p.E583D |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38033308G>A,c.2009C>T,p.S670L |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38032562C>T,c.2090G>A,p.R697H |
| GNL2(NM_013285,guanine nucleotide binding protein-like 2 (nucleolar),731aa) | g.1:38032481C>T,c.2171G>A,p.R724H |
| GNL1(NM_005275,guanine nucleotide binding protein-like 1,607aa) | g.6:30520367C>T,c.976G>A,p.E326K |
| GNL1(NM_005275,guanine nucleotide binding protein-like 1,607aa) | g.6:30514577G>A,c.1478C>T,p.A493V |
| GNL1(NM_005275,guanine nucleotide binding protein-like 1,607aa) | g.6:30514529G>A,c.1526C>T,p.A509V |
| GNGT2(NM_031498,guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2,69aa) | g.17:47284735T>C,c.50A>G,p.Q17R |