| 基因名 | 突变 |
|---|---|
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974520G>A,c.482G>A,p.R161Q |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974519C>T,c.481C>T,p.R161X |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974510T>C,c.472T>C,p.F158L |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45974496G>A,c.458G>A,p.R153Q |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45973995T>C,c.388T>C,p.Y130H |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45973954T>C,c.347T>C,p.L116P |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45973127C>T,c.181C>T,p.R61W |
| MMACHC(NM_015506,methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria,282aa) | g.1:45966071G>T,c.67G>T,p.V23F |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:110011230C>T,c.56G>A,p.R19H |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:110011229_110011230GC>TT,c.56_57GC>AA,p.R19Q |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:109999612A>G,c.394T>C,p.C132R |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:109998873G>A,c.556C>T,p.R186W |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:109998846G>A,c.583C>T,p.R195C |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:109996925G>A,c.620C>T,p.A207V |
| MMAB(NM_052845,methylmalonic aciduria (cobalamin deficiency) cblB type,250aa) | g.12:109994870A>T,c.716T>A,p.M239K |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146576418G>C,c.1089G>C,p.Q363H |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146576332A>T,c.1003A>T,p.I335F |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146576306G>A,c.977G>A,p.R326H |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146575272C>T,c.946C>T,p.R316C |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146575266C>T,c.940C>T,p.R314C |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146567185A>G,c.610A>G,p.M204V |
| MMAA(NM_172250,methylmalonic aciduria (cobalamin deficiency) cblA type,418aa) | g.4:146563569A>G,c.494A>G,p.K165R |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83948906C>T,c.1294C>T,p.R432C |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83948790C>G,c.1178C>G,p.A393G |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83948787G>A,c.1175G>A,p.R392Q |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83945925G>C,c.901G>C,p.V301L |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83945874A>G,c.850A>G,p.T284A |
| MLYCD(NM_012213,malonyl-CoA decarboxylase,493aa) | g.16:83945853A>G,c.829A>G,p.T277A |