| 基因名 | 突变 |
|---|---|
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35737387G>A,c.2563C>T,p.R855C |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35737341C>T,c.2609G>A,p.R870Q |
| GATS(NM_178831,GATS, stromal antigen 3 opposite strand,163aa) | g.7:99869551G>C,c.56C>G,p.T19S |
| GATS(NM_178831,GATS, stromal antigen 3 opposite strand,163aa) | g.7:99821668G>A,c.248C>T,p.A83V |
| GATSL3(NM_001037666,GATS protein-like 3,329aa) | g.22:30683439G>A,c.295C>T,p.R99C |
| GATSL3(NM_001037666,GATS protein-like 3,329aa) | g.22:30681819A>C,c.921+2T>G,p.307Donor |
| GATM(NM_001482,glycine amidinotransferase (L-arginine:glycine amidinotransferase),423aa) | g.15:45668808G>C,c.279C>G,p.I93M |
| GATM(NM_001482,glycine amidinotransferase (L-arginine:glycine amidinotransferase),423aa) | g.15:45661678T>A,c.330A>T,p.Q110H |
| GATC(NM_176818,glutamyl-tRNA(Gln) amidotransferase, subunit C,136aa) | g.12:120884571G>T,c.193G>T,p.D65Y |
| GATC(NM_176818,glutamyl-tRNA(Gln) amidotransferase, subunit C,136aa) | g.12:120884291C>T,c.8C>T,p.S3L |
| GATAD2B(NM_020699,GATA zinc finger domain containing 2B,593aa) | g.1:153789874T>C,c.874A>G,p.M292V |
| GATAD2B(NM_020699,GATA zinc finger domain containing 2B,593aa) | g.1:153784559G>A,c.1469C>T,p.A490V |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19613284G>A,c.1720G>A,p.A574T |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19613180G>A,c.1616G>A,p.R539Q |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19612826G>A,c.1549G>A,p.D517N |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19607018A>G,c.914A>G,p.N305S |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19603171A>G,c.326A>G,p.N109S |
| GATAD2A(NM_017660,GATA zinc finger domain containing 2A,633aa) | g.19:19576195C>T,c.41C>T,p.A14V |
| GATAD1(NM_021167,GATA zinc finger domain containing 1,269aa) | g.7:92085836C>T,c.770C>T,p.P257L |
| GATAD1(NM_021167,GATA zinc finger domain containing 1,269aa) | g.7:92085763C>T,c.697C>T,p.R233W |
| GATAD1(NM_021167,GATA zinc finger domain containing 1,269aa) | g.7:92083904A>G,c.524A>G,p.Q175R |
| GATAD1(NM_021167,GATA zinc finger domain containing 1,269aa) | g.7:92077203G>A,c.160G>A,p.G54S |
| GATA6(NM_005257,GATA binding protein 6,595aa) | g.18:19780721G>C,c.1723G>C,p.A575P |
| GATA6(NM_005257,GATA binding protein 6,595aa) | g.18:19762910A>G,c.1526A>G,p.N509S |
| GATA6(NM_005257,GATA binding protein 6,595aa) | g.18:19761485C>T,c.1374C>T,p.N458N |
| GATA6(NM_005257,GATA binding protein 6,595aa) | g.18:19751308A>T,c.203A>T,p.E68V |
| GATA6(NM_005257,GATA binding protein 6,595aa) | g.18:19751148G>C,c.43G>C,p.G15R |
| GATA5(NM_080473,GATA binding protein 5,397aa) | g.20:61050570T>C,c.8A>G,p.Q3R |