| Genename | Variants |
|---|---|
| GFRA2(NM_001495,GDNF family receptor alpha 2,464aa) | g.8:21550858G>A,c.1327C>T,p.P443S |
| GFRA2(NM_001495,GDNF family receptor alpha 2,464aa) | g.8:21550839G>A,c.1346C>T,p.S449L |
| GFRA2(NM_001495,GDNF family receptor alpha 2,464aa) | g.8:21550800A>T,c.1385T>A,p.L462Q |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:118030627T>G,c.41A>C,p.D14A |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:118030415A>T,c.253T>A,p.Y85N |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:117884972G>A,c.530C>T,p.P177L |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:117884933C>T,c.569G>A,p.R190H |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:117849353T>C,c.1096A>G,p.T366A |
| GFRA1(NM_005264,GDNF family receptor alpha 1,465aa) | g.10:117825089A>G,c.1246T>C,p.S416P |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179763560T>G,c.133A>C,p.N45H |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179751246C>T,c.736G>A,p.A246T |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179743822C>T,c.1094G>A,p.R365Q |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179743802C>T,c.1114G>A,p.V372M |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179740875T>G,c.1363A>C,p.I455L |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179740827T>C,c.1411A>G,p.I471V |
| GFPT2(NM_005110,glutamine-fructose-6-phosphate transaminase 2,682aa) | g.5:179729476C>T,c.1951G>A,p.V651M |
| GFPT1(NM_001244710,glutamine--fructose-6-phosphate transaminase 1,699aa) | g.2:69597134G>C,c.222C>G,p.H74Q |
| GFPT1(NM_001244710,glutamine--fructose-6-phosphate transaminase 1,699aa) | g.2:69590695G>A,c.331C>T,p.R111C |
| GFPT1(NM_001244710,glutamine--fructose-6-phosphate transaminase 1,699aa) | g.2:69556434del,c.1720del,p.574fs |
| GFPT1(NM_001244710,glutamine--fructose-6-phosphate transaminase 1,699aa) | g.2:69555414C>T,c.1882G>A,p.V628I |
| GFOD1(NM_018988,glucose-fructose oxidoreductase domain containing 1,390aa) | g.6:13365763C>G,c.385G>C,p.V129L |
| GFOD1(NM_018988,glucose-fructose oxidoreductase domain containing 1,390aa) | g.6:13365594G>A,c.554C>T,p.T185I |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74059525T>C,c.139A>G,p.I47V |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74055222G>T,c.274C>A,p.H92N |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74055209T>C,c.287A>G,p.N96S |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74041654T>C,c.794A>G,p.K265R |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74041627T>C,c.821A>G,p.E274G |
| GFM2(NM_001281302,G elongation factor, mitochondrial 2,811aa) | g.5:74037386T>A,c.994A>T,p.S332C |