| 基因名 | 突变 |
|---|---|
| MCUR1(NM_001031713,mitochondrial calcium uniporter regulator 1,359aa) | g.6:13814340T>C,c.322A>G,p.S108G |
| MCUR1(NM_001031713,mitochondrial calcium uniporter regulator 1,359aa) | g.6:13802513C>T,c.601G>A,p.D201N |
| MCUR1(NM_001031713,mitochondrial calcium uniporter regulator 1,359aa) | g.6:13801615T>C,c.646A>G,p.T216A |
| MCUR1(NM_001031713,mitochondrial calcium uniporter regulator 1,359aa) | g.6:13801573C>T,c.688G>A,p.D230N |
| MCU(NM_001270680,mitochondrial calcium uniporter,302aa) | g.10:74618988_74618989insC,c.127_128insC,p.43fs |
| MCTS1(NM_014060,malignant T cell amplified sequence 1,181aa) | g.X:119739984G>A,c.215G>A,p.R72K |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:95013651G>A,c.2450G>A,p.R817Q |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:95013650C>T,c.2449C>T,p.R817W |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94945247C>T,c.2084C>T,p.A695V |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94945151G>A,c.1988G>A,p.R663H |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94943180C>T,c.1921C>T,p.R641W |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94942282A>G,c.1881A>G,p.I627M |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94942206C>T,c.1805C>T,p.P602L |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94928755G>A,c.1788+1G>A,p.596Donor |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94928712_94928713insC,c.1746_1747insC,p.582fs |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94927310G>A,c.1642G>A,p.V548I |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94927292C>T,c.1624C>T,p.R542X |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94911021G>C,c.1488+1G>C,p.496Donor |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94911020T>A,c.1488T>A,p.Y496X |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94910851C>T,c.1319C>T,p.S440L |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94899432A>G,c.1072A>G,p.I358V |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94899388G>A,c.1028G>A,p.R343Q |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94884106G>C,c.922G>C,p.V308L |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94884094A>C,c.910A>C,p.M304L |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94882561C>T,c.680C>T,p.T227M |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94858860C>T,c.631C>T,p.R211C |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841903G>A,c.409G>A,p.G137S |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841889G>A,c.395G>A,p.R132Q |