Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.3469_3488del | CA2573104440 | MT-ND1 | c.163_182del (p.Leu55LysfsTer?) | |
MT | m.3479_3483del | CA2741808801 | MT-ND1 | c.173_177del (p.Lys58ThrfsTer?) | |
MT | m.3480A= | CA2499563451 | MT-ND1 | c.174A= (p.Lys58=) | |
MT | m.3480A>C | CA414772873 | MT-ND1 | c.174A>C (p.Lys58Asn) | |
MT | m.3480A>G | CA337096549 | MT-ND1 | c.174A>G (p.Lys58=) | dbSNP |
MT | m.3480A>T | CA414772874 | MT-ND1 | c.174A>T (p.Lys58Asn) | |
MT | m.3481G>A | CA345910 | MT-ND1 | c.175G>A (p.Glu59Lys) | ClinVar dbSNP |
MT | m.3481G>C | CA414772875 | MT-ND1 | c.175G>C (p.Glu59Gln) | |
MT | m.3481G= | CA2499563452 | MT-ND1 | c.175G= (p.Glu59=) | |
MT | m.3481G>T | CA414772876 | MT-ND1 | c.175G>T (p.Glu59Ter) | |
MT | m.3482A= | CA2513082043 | MT-ND1 | c.176A= (p.Glu59=) | |
MT | m.3482A>C | CA414772877 | MT-ND1 | c.176A>C (p.Glu59Ala) | |
MT | m.3482A>G | CA414772878 | MT-ND1 | c.176A>G (p.Glu59Gly) | |
MT | m.3482A>T | CA414772879 | MT-ND1 | c.176A>T (p.Glu59Val) | |
MT | m.3483G>A | CA337096552 | MT-ND1 | c.177G>A (p.Glu59=) | dbSNP |
MT | m.3483G>C | CA414772881 | MT-ND1 | c.177G>C (p.Glu59Asp) | |
MT | m.3483G= | CA2499563453 | MT-ND1 | c.177G= (p.Glu59=) | |
MT | m.3483G>T | CA414772880 | MT-ND1 | c.177G>T (p.Glu59Asp) | |
MT | m.3484C>A | CA414772882 | MT-ND1 | c.178C>A (p.Pro60Thr) | |
MT | m.3484C= | CA2573327678 | MT-ND1 | c.178C= (p.Pro60=) | |
MT | m.3484C>G | CA414772884 | MT-ND1 | c.178C>G (p.Pro60Ala) | |
MT | m.3484C>T | CA414772883 | MT-ND1 | c.178C>T (p.Pro60Ser) | |
MT | m.3485C>A | CA414772885 | MT-ND1 | c.179C>A (p.Pro60His) | |
MT | m.3485C= | CA2573327682 | MT-ND1 | c.179C= (p.Pro60=) | |
MT | m.3485C>G | CA414772886 | MT-ND1 | c.179C>G (p.Pro60Arg) | |
MT | m.3485C>T | CA414772887 | MT-ND1 | c.179C>T (p.Pro60Leu) | |
MT | m.3486C>A | CA913169423 | MT-ND1 | c.180C>A (p.Pro60=) | |
MT | m.3486C= | CA2499563454 | MT-ND1 | c.180C= (p.Pro60=) | |
MT | m.3486C>G | CA913169424 | MT-ND1 | c.180C>G (p.Pro60=) | |
MT | m.3486C>T | CA337096554 | MT-ND1 | c.180C>T (p.Pro60=) | dbSNP |
MT | m.3487C>A | CA414772888 | MT-ND1 | c.181C>A (p.Leu61Ile) | |
MT | m.3487C= | CA2499563455 | MT-ND1 | c.181C= (p.Leu61=) | |
MT | m.3487C>G | CA414772889 | MT-ND1 | c.181C>G (p.Leu61Val) | |
MT | m.3487C>T | CA913169427 | MT-ND1 | c.181C>T (p.Leu61=) | dbSNP |
MT | m.3488del | CA2739234974 | MT-ND1 | c.182del (p.Leu61GlnfsTer17) | dbSNP |
MT | m.3488T>A | CA414772890 | MT-ND1 | c.182T>A (p.Leu61Gln) | |
MT | m.3488T>C | CA414772891 | MT-ND1 | c.182T>C (p.Leu61Pro) | ClinVar dbSNP |
MT | m.3488T>G | CA414772892 | MT-ND1 | c.182T>G (p.Leu61Arg) | |
MT | m.3488T= | CA2499563456 | MT-ND1 | c.182T= (p.Leu61=) | |
MT | m.3488_3492del | CA2573104441 | MT-ND1 | c.182_186del (p.Leu61ProfsTer?) | |
MT | m.3489A= | CA2573327691 | MT-ND1 | c.183A= (p.Leu61=) | |
MT | m.3489A>C | CA913169428 | MT-ND1 | c.183A>C (p.Leu61=) | |
MT | m.3489A>G | CA913169429 | MT-ND1 | c.183A>G (p.Leu61=) | |
MT | m.3489A>T | CA913169430 | MT-ND1 | c.183A>T (p.Leu61=) | |
MT | m.3492del | CA2573104442 | MT-ND1 | c.186del (p.Lys62AsnfsTer16) | |
MT | m.3490A= | CA2573327695 | MT-ND1 | c.184A= (p.Lys62=) | |
MT | m.3490A>C | CA414772895 | MT-ND1 | c.184A>C (p.Lys62Gln) | |
MT | m.3490A>G | CA414772894 | MT-ND1 | c.184A>G (p.Lys62Glu) | |
MT | m.3490A>T | CA414772893 | MT-ND1 | c.184A>T (p.Lys62Ter) | |
MT | m.3491A= | CA2573327697 | MT-ND1 | c.185A= (p.Lys62=) |