Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.5774_14768del | CA2580610836 | |||
MT | m.5780_14107del | CA2580610932 | |||
MT | m.5782_13922del | CA250413 | ClinVar | ||
MT | m.5788_13923del | CA2580618295 | |||
MT | m.5794_14876del | CA250414 | ClinVar | ||
MT | m.6470_15588del | CA645373332 | ClinVar | ||
MT | m.7129_13991del | CA645373333 | ClinVar | ||
MT | m.8815_13722del | CA645373338 | ClinVar | ||
MT | m.8839_14895del | CA645373339 | ClinVar | ||
MT | m.9062_16052del | CA2580618296 | |||
MT | m.10106_15067del | CA645373340 | ClinVar | ||
MT | m.10775_14941del | CA2740090229 | ClinVar | ||
MT | m.10950_15540del | CA2580102079 | ClinVar | ||
MT | m.11263_15374del | CA645373341 | ClinVar | ||
MT | m.12114_14420del | CA645373342 | ClinVar | ||
MT | m.13523T>A | CA414818364 | MT-ND5 | c.1187T>A (p.Ile396Asn) | |
MT | m.13523T>C | CA414818366 | MT-ND5 | c.1187T>C (p.Ile396Thr) | |
MT | m.13523T>G | CA414818367 | MT-ND5 | c.1187T>G (p.Ile396Ser) | |
MT | m.13523T= | CA2573324653 | MT-ND5 | c.1187T= (p.Ile396=) | |
MT | m.13524C>A | CA913171021 | MT-ND5 | c.1188C>A (p.Ile396=) | ClinVar dbSNP |
MT | m.13524C= | CA2499568039 | MT-ND5 | c.1188C= (p.Ile396=) | |
MT | m.13524C>G | CA414818370 | MT-ND5 | c.1188C>G (p.Ile396Met) | |
MT | m.13524C>T | CA913171022 | MT-ND5 | c.1188C>T (p.Ile396=) | |
MT | m.13525G>A | CA414818372 | MT-ND5 | c.1189G>A (p.Glu397Lys) | |
MT | m.13525G>C | CA414818374 | MT-ND5 | c.1189G>C (p.Glu397Gln) | |
MT | m.13525G= | CA2573324661 | MT-ND5 | c.1189G= (p.Glu397=) | |
MT | m.13525G>T | CA414818376 | MT-ND5 | c.1189G>T (p.Glu397Ter) | |
MT | m.13526A= | CA2573324664 | MT-ND5 | c.1190A= (p.Glu397=) | |
MT | m.13526A>C | CA414818378 | MT-ND5 | c.1190A>C (p.Glu397Ala) | |
MT | m.13526A>G | CA414818380 | MT-ND5 | c.1190A>G (p.Glu397Gly) | |
MT | m.13526A>T | CA414818383 | MT-ND5 | c.1190A>T (p.Glu397Val) | |
MT | m.13527A= | CA2499568040 | MT-ND5 | c.1191A= (p.Glu397=) | |
MT | m.13527A>C | CA414818384 | MT-ND5 | c.1191A>C (p.Glu397Asp) | |
MT | m.13527A>G | CA913171023 | MT-ND5 | c.1191A>G (p.Glu397=) | dbSNP |
MT | m.13527A>T | CA414818386 | MT-ND5 | c.1191A>T (p.Glu397Asp) | |
MT | m.13528A= | CA2499568041 | MT-ND5 | c.1192A= (p.Thr398=) | |
MT | m.13528A>C | CA414818389 | MT-ND5 | c.1192A>C (p.Thr398Pro) | |
MT | m.13528A>G | CA337099716 | MT-ND5 | c.1192A>G (p.Thr398Ala) | ClinVar dbSNP |
MT | m.13528A>T | CA414818390 | MT-ND5 | c.1192A>T (p.Thr398Ser) | |
MT | m.13529C>A | CA414818397 | MT-ND5 | c.1193C>A (p.Thr398Asn) | |
MT | m.13529C= | CA2573324681 | MT-ND5 | c.1193C= (p.Thr398=) | |
MT | m.13529C>G | CA414818399 | MT-ND5 | c.1193C>G (p.Thr398Ser) | |
MT | m.13529C>T | CA414818400 | MT-ND5 | c.1193C>T (p.Thr398Ile) | |
MT | m.13530C>A | CA913171024 | MT-ND5 | c.1194C>A (p.Thr398=) | |
MT | m.13530C= | CA2499568042 | MT-ND5 | c.1194C= (p.Thr398=) | |
MT | m.13530C>G | CA913171025 | MT-ND5 | c.1194C>G (p.Thr398=) | |
MT | m.13530C>T | CA913171026 | MT-ND5 | c.1194C>T (p.Thr398=) | dbSNP |
MT | m.13531G>A | CA414818402 | MT-ND5 | c.1195G>A (p.Ala399Thr) | COSMIC |
MT | m.13531G>C | CA414818404 | MT-ND5 | c.1195G>C (p.Ala399Pro) | |
MT | m.13531G= | CA2573324685 | MT-ND5 | c.1195G= (p.Ala399=) |