
| Genename | Variants |
|---|---|
| FBRSL1(NM_001142641,fibrosin-like 1,1045aa) | g.12:133146697G>A,c.877G>A,p.A293T |
| FBRSL1(NM_001142641,fibrosin-like 1,1045aa) | g.12:133146665G>A,c.845G>A,p.R282H |
| FBRSL1(NM_001142641,fibrosin-like 1,1045aa) | g.12:133102351G>A,c.521G>A,p.R174Q |
| FBRSL1(NM_001142641,fibrosin-like 1,1045aa) | g.12:133102350C>T,c.520C>T,p.R174W |
| FBRSL1(NM_001142641,fibrosin-like 1,1045aa) | g.12:133084850C>T,c.403C>T,p.R135W |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97355861G>A,c.148C>T,p.R50C |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97349666C>G,c.256G>C,p.V86L |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97349665A>G,c.257T>C,p.V86A |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97349603C>T,c.319G>A,p.A107T |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97333824C>T,c.487G>A,p.A163T |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97333800C>A,c.511G>T,p.A171S |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97329625C>T,c.632G>A,p.S211N |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97329592G>A,c.665C>T,p.A222V |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97329587T>A,c.670A>T,p.T224S |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97321404A>G,c.836T>C,p.L279P |
| FBP2(NM_003837,fructose-1,6-bisphosphatase 2,339aa) | g.9:97321251G>A,c.989C>T,p.T330I |
| FBP1(NM_000507,fructose-1,6-bisphosphatase 1,338aa) | g.9:97369149C>T,c.653G>A,p.R218K |
| FBP1(NM_000507,fructose-1,6-bisphosphatase 1,338aa) | g.9:97369132C>T,c.670G>A,p.V224I |
| FBP1(NM_000507,fructose-1,6-bisphosphatase 1,338aa) | g.9:97369105A>T,c.697T>A,p.F233I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8212229G>A,c.136C>T,p.R46W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8212222C>T,c.143G>A,p.R48Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8211988G>A,c.250C>T,p.P84S |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8210816C>G,c.356G>C,p.G119A |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8209854T>A,c.448A>T,p.I150F |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8206980C>A,c.583G>T,p.G195W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8206866G>C,c.697C>G,p.R233G |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8206847T>C,c.716A>G,p.N239S |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8206844A>G,c.719T>C,p.I240T |