| Genename | Variants |
|---|---|
| SIPA1L1(NM_015556,signal-induced proliferation-associated 1 like 1,1804aa) | g.14:72054708G>A,c.119G>A,p.R40Q |
| SIPA1L1(NM_015556,signal-induced proliferation-associated 1 like 1,1804aa) | g.14:72054606G>A,c.17G>A,p.R6Q |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164793758C>A,c.43G>T,p.V15F |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164786914C>T,c.325G>A,p.V109I |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164785246G>C,c.517C>G,p.P173A |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164785183C>A,c.580G>T,p.V194F |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164785165T>C,c.598A>G,p.S200G |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164783165T>C,c.691A>G,p.T231A |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164783164G>C,c.692C>G,p.T231S |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164783108G>A,c.748C>T,p.R250C |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164777725C>T,c.1111G>A,p.V371M |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164755719T>C,c.2395A>G,p.I799V |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164750447A>G,c.2599T>C,p.Y867H |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164748603T>C,c.2789A>G,p.Q930R |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164741534A>G,c.2923T>C,p.Y975H |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164739053C>T,c.3218G>A,p.G1073D |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164737395G>C,c.3418C>G,p.P1140A |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164737393_164737394insG,c.3419_3420insC,p.1140fs |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164732996G>A,c.3914C>T,p.T1305I |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164727147T>C,c.4099A>G,p.R1367G |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164725726C>T,c.4240G>A,p.E1414K |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164716417C>T,c.4451G>A,p.R1484H |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164716393C>T,c.4475G>A,p.R1492Q |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164714532C>T,c.4569G>A,p.M1523I |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164712061G>A,c.4825C>T,p.R1609X |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164709250C>T,c.4999G>A,p.V1667I |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164709192C>T,c.5057G>A,p.R1686H |
| SI(NM_001041,sucrase-isomaltase (alpha-glucosidase),1827aa) | g.3:164700803A>C,c.5234T>G,p.F1745C |