| Genename | Variants |
|---|---|
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19422385T>G,c.264T>G,p.F88L |
| MRPL40(NM_003776,mitochondrial ribosomal protein L40,206aa) | g.22:19420109T>C,c.32T>C,p.L11P |
| MRPL3(NM_007208,mitochondrial ribosomal protein L3,348aa) | g.3:131206557C>T,c.596G>A,p.R199H |
| MRPL3(NM_007208,mitochondrial ribosomal protein L3,348aa) | g.3:131188574A>G,c.782T>C,p.M261T |
| MRPL3(NM_007208,mitochondrial ribosomal protein L3,348aa) | g.3:131181683C>T,c.931G>A,p.G311S |
| MRPL3(NM_007208,mitochondrial ribosomal protein L3,348aa) | g.3:131181605C>T,c.1009G>A,p.V337M |
| MRPL3(NM_007208,mitochondrial ribosomal protein L3,348aa) | g.3:131181595G>A,c.1019C>T,p.P340L |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26979786A>G,c.2T>C,p.M1T |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26979768C>A,c.20G>T,p.G7V |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26978950A>G,c.91T>C,p.S31P |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26978835T>C,c.206A>G,p.H69R |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26978806A>C,c.235T>G,p.F79V |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26960070G>A,c.1001C>T,p.T334M |
| MRPL39(NM_080794,mitochondrial ribosomal protein L39,353aa) | g.21:26960040G>A,c.1031C>T,p.S344L |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73900907C>T,c.50G>A,p.R17Q |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73898188G>A,c.295C>T,p.R99W |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73898187C>T,c.296G>A,p.R99Q |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73898142C>T,c.341G>A,p.R114Q |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73898131C>G,c.352G>C,p.E118Q |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73897344G>A,c.602C>T,p.A201V |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73895350G>A,c.895C>T,p.R299C |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73895007C>T,c.1067G>A,p.R356H |
| MRPL38(NM_032478,mitochondrial ribosomal protein L38,380aa) | g.17:73894963C>G,c.1111G>C,p.D371H |
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54681920G>C,c.1097G>C,p.C366S |
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54681871C>T,c.1048C>T,p.R350C |
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54678305C>G,c.964C>G,p.L322V |
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54678280G>T,c.939G>T,p.M313I |
| MRPL37(NM_016491,mitochondrial ribosomal protein L37,423aa) | g.1:54666098C>T,c.182C>T,p.A61V |