| 基因名 | 突变 |
|---|---|
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38212624C>T,c.1237C>T,p.R413W |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38212588G>A,c.1201G>A,p.G401R |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38212254G>A,c.1112G>A,p.S371N |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38211786G>T,c.1009G>T,p.D337Y |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38211445G>A,c.830G>A,p.G277D |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38211287G>A,c.809G>A,p.R270Q |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38211139C>T,c.661C>T,p.R221W |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38209618T>C,c.654+2T>C,p.218Donor |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38208984G>A,c.496G>A,p.G166S |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38208975G>A,c.487G>A,p.A163T |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38206124G>T,c.365G>T,p.G122V |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38205989T>C,c.230T>C,p.L77S |
| GCAT(NM_001171690,glycine C-acetyltransferase,445aa) | g.22:38204089C>T,c.115C>T,p.R39C |
| GCA(NM_012198,grancalcin, EF-hand calcium binding protein,217aa) | g.2:163216053A>G,c.618A>G,p.I206M |
| GCA(NM_012198,grancalcin, EF-hand calcium binding protein,217aa) | g.2:163215655C>T,c.556C>T,p.R186X |
| GCA(NM_012198,grancalcin, EF-hand calcium binding protein,217aa) | g.2:163208893T>G,c.238T>G,p.S80A |
| GCA(NM_012198,grancalcin, EF-hand calcium binding protein,217aa) | g.2:163208876A>G,c.221A>G,p.Q74R |
| GBX2(NM_001485,gastrulation brain homeobox 2,348aa) | g.2:237076211C>A,c.404G>T,p.G135V |
| GBX2(NM_001485,gastrulation brain homeobox 2,348aa) | g.2:237074895C>T,c.709G>A,p.A237T |
| GBX1(NM_001098834,gastrulation brain homeobox 1,363aa) | g.7:150864117C>A,c.519G>T,p.E173D |
| GBX1(NM_001098834,gastrulation brain homeobox 1,363aa) | g.7:150846188C>T,c.580G>A,p.A194T |
| GBX1(NM_001098834,gastrulation brain homeobox 1,363aa) | g.7:150845788C>T,c.980G>A,p.R327H |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89637578G>A,c.41C>T,p.T14I |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89637485C>T,c.134G>A,p.G45D |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89637454C>T,c.165G>A,p.M55I |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89637432T>G,c.187A>C,p.K63Q |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89618035G>A,c.541C>T,p.R181X |
| GBP7(NM_207398,guanylate binding protein 7,638aa) | g.1:89616171C>T,c.713G>A,p.R238Q |