| 基因名 | 突变 |
|---|---|
| MME(NM_007289,membrane metallo-endopeptidase,750aa) | g.3:154857998G>A,c.874G>A,p.D292N |
| MME(NM_007289,membrane metallo-endopeptidase,750aa) | g.3:154836554G>C,c.674G>C,p.G225A |
| MME(NM_007289,membrane metallo-endopeptidase,750aa) | g.3:154801978A>G,c.22A>G,p.M8V |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2543616C>T,c.182G>A,p.R61Q |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2541231G>A,c.332C>T,p.P111L |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2540795C>T,c.518G>A,p.R173H |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2535397C>G,c.967G>C,p.E323Q |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2527477C>T,c.1471G>A,p.E491K |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2526774C>T,c.1525G>A,p.G509R |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2526746A>G,c.1553T>C,p.M518T |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2524128A>G,c.2033T>C,p.I678T |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2523431G>T,c.2103C>A,p.D701E |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2523412C>T,c.2122G>A,p.D708N |
| MMEL1(NM_033467,membrane metallo-endopeptidase-like 1,779aa) | g.1:2522445C>T,c.2324G>A,p.R775Q |
| MMD(NM_012329,monocyte to macrophage differentiation-associated,238aa) | g.17:53488765G>A,c.122C>T,p.P41L |
| MMD2(NM_001100600,monocyte to macrophage differentiation-associated 2,270aa) | g.7:4959851C>T,c.241G>A,p.V81M |
| MMD2(NM_001100600,monocyte to macrophage differentiation-associated 2,270aa) | g.7:4949628G>A,c.493C>T,p.R165C |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150438708T>G,c.87A>C,p.K29N |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150433017C>T,c.412G>A,p.E138K |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150433001C>A,c.428G>T,p.S143I |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150432319T>G,c.515A>C,p.K172T |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150432256A>G,c.578T>C,p.V193A |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150427678T>C,c.617A>G,p.N206S |
| MMADHC(NM_015702,methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria,296aa) | g.2:150427649G>C,c.646C>G,p.R216G |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974849A>G,c.811A>G,p.S271G |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974837C>T,c.799C>T,p.R267W |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974721C>T,c.683C>T,p.A228V |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974603C>T,c.565C>T,p.R189C |