Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.3545C>A | CA414773004 | MT-ND1 | c.239C>A (p.Thr80Asn) | |
MT | m.3545C= | CA2573327876 | MT-ND1 | c.239C= (p.Thr80=) | |
MT | m.3545C>G | CA414773005 | MT-ND1 | c.239C>G (p.Thr80Ser) | |
MT | m.3545C>T | CA414773006 | MT-ND1 | c.239C>T (p.Thr80Ile) | |
MT | m.3546C>A | CA913169604 | MT-ND1 | c.240C>A (p.Thr80=) | dbSNP |
MT | m.3546C= | CA2499563486 | MT-ND1 | c.240C= (p.Thr80=) | |
MT | m.3546C>G | CA913169606 | MT-ND1 | c.240C>G (p.Thr80=) | |
MT | m.3546C>T | CA913169607 | MT-ND1 | c.240C>T (p.Thr80=) | dbSNP |
MT | m.3547A= | CA2499563487 | MT-ND1 | c.241A= (p.Ile81=) | |
MT | m.3547A>C | CA414773007 | MT-ND1 | c.241A>C (p.Ile81Leu) | |
MT | m.3547A>G | CA337096586 | MT-ND1 | c.241A>G (p.Ile81Val) | ClinVar dbSNP |
MT | m.3547A>T | CA414773008 | MT-ND1 | c.241A>T (p.Ile81Phe) | |
MT | m.3548T>A | CA414773010 | MT-ND1 | c.242T>A (p.Ile81Asn) | |
MT | m.3548T>C | CA10581196 | MT-ND1 | c.242T>C (p.Ile81Thr) | ClinVar dbSNP |
MT | m.3548T>G | CA414773009 | MT-ND1 | c.242T>G (p.Ile81Ser) | |
MT | m.3548T= | CA2499563488 | MT-ND1 | c.242T= (p.Ile81=) | |
MT | m.3549C>A | CA913169628 | MT-ND1 | c.243C>A (p.Ile81=) | |
MT | m.3549C= | CA2499563489 | MT-ND1 | c.243C= (p.Ile81=) | |
MT | m.3549C>G | CA414773011 | MT-ND1 | c.243C>G (p.Ile81Met) | |
MT | m.3549C>T | CA913169629 | MT-ND1 | c.243C>T (p.Ile81=) | dbSNP |
MT | m.3550G>A | CA414773012 | MT-ND1 | c.244G>A (p.Ala82Thr) | |
MT | m.3550G>C | CA414773013 | MT-ND1 | c.244G>C (p.Ala82Pro) | |
MT | m.3550G= | CA2499563490 | MT-ND1 | c.244G= (p.Ala82=) | |
MT | m.3550G>T | CA414773014 | MT-ND1 | c.244G>T (p.Ala82Ser) | dbSNP |
MT | m.3551C>A | CA414773015 | MT-ND1 | c.245C>A (p.Ala82Asp) | |
MT | m.3551C= | CA2513641671 | MT-ND1 | c.245C= (p.Ala82=) | |
MT | m.3551C>G | CA414773016 | MT-ND1 | c.245C>G (p.Ala82Gly) | |
MT | m.3551C>T | CA414773017 | MT-ND1 | c.245C>T (p.Ala82Val) | |
MT | m.3552T>A | CA337096589 | MT-ND1 | c.246T>A (p.Ala82=) | ClinVar dbSNP |
MT | m.3552T>C | CA337096591 | MT-ND1 | c.246T>C (p.Ala82=) | dbSNP |
MT | m.3552T>G | CA913169633 | MT-ND1 | c.246T>G (p.Ala82=) | |
MT | m.3552T= | CA2499563491 | MT-ND1 | c.246T= (p.Ala82=) | |
MT | m.3553C>A | CA414773018 | MT-ND1 | c.247C>A (p.Leu83Ile) | |
MT | m.3553C= | CA2573327897 | MT-ND1 | c.247C= (p.Leu83=) | |
MT | m.3553C>G | CA414773019 | MT-ND1 | c.247C>G (p.Leu83Val) | |
MT | m.3553C>T | CA414773020 | MT-ND1 | c.247C>T (p.Leu83Phe) | |
MT | m.3554T>A | CA414773023 | MT-ND1 | c.248T>A (p.Leu83His) | |
MT | m.3554T>C | CA414773021 | MT-ND1 | c.248T>C (p.Leu83Pro) | dbSNP |
MT | m.3554T>G | CA414773022 | MT-ND1 | c.248T>G (p.Leu83Arg) | |
MT | m.3554T= | CA2499563492 | MT-ND1 | c.248T= (p.Leu83=) | |
MT | m.3555T>A | CA913169638 | MT-ND1 | c.249T>A (p.Leu83=) | |
MT | m.3555T>C | CA913169637 | MT-ND1 | c.249T>C (p.Leu83=) | ClinVar dbSNP |
MT | m.3555T>G | CA913169636 | MT-ND1 | c.249T>G (p.Leu83=) | |
MT | m.3555T= | CA2499563493 | MT-ND1 | c.249T= (p.Leu83=) | |
MT | m.3556_3560del | CA2573104446 | MT-ND1 | c.250_254del (p.Leu84MetfsTer25) | |
MT | m.3556C>A | CA414773024 | MT-ND1 | c.250C>A (p.Leu84Ile) | |
MT | m.3556C= | CA2573327906 | MT-ND1 | c.250C= (p.Leu84=) | |
MT | m.3556C>G | CA414773025 | MT-ND1 | c.250C>G (p.Leu84Val) | |
MT | m.3556C>T | CA913169640 | MT-ND1 | c.250C>T (p.Leu84=) | |
MT | m.3557T>A | CA414773026 | MT-ND1 | c.251T>A (p.Leu84Gln) |