Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.4171C>A | CA340948 | MT-ND1 | c.865C>A (p.Leu289Ile) | ClinVar dbSNP |
MT | m.4171C= | CA2499563766 | MT-ND1 | c.865C= (p.Leu289=) | |
MT | m.4171C>G | CA414774338 | MT-ND1 | c.865C>G (p.Leu289Val) | |
MT | m.4171C>T | CA337096817 | MT-ND1 | c.865C>T (p.Leu289=) | dbSNP |
MT | m.4172T>A | CA414774339 | MT-ND1 | c.866T>A (p.Leu289Gln) | ClinVar dbSNP |
MT | m.4172T>C | CA414774341 | MT-ND1 | c.866T>C (p.Leu289Pro) | |
MT | m.4172T>G | CA414774340 | MT-ND1 | c.866T>G (p.Leu289Arg) | |
MT | m.4172T= | CA2499563767 | MT-ND1 | c.866T= (p.Leu289=) | |
MT | m.4173A= | CA2573329379 | MT-ND1 | c.867A= (p.Leu289=) | |
MT | m.4173A>C | CA913177075 | MT-ND1 | c.867A>C (p.Leu289=) | |
MT | m.4173A>G | CA913177078 | MT-ND1 | c.867A>G (p.Leu289=) | |
MT | m.4173A>T | CA913177081 | MT-ND1 | c.867A>T (p.Leu289=) | |
MT | m.4174T>A | CA414774342 | MT-ND1 | c.868T>A (p.Ter290Arg) | |
MT | m.4174T>C | CA414774343 | MT-ND1 | c.868T>C (p.Ter290Arg) | |
MT | m.4174T>G | CA414774344 | MT-ND1 | c.868T>G (p.Ter290Gly) | |
MT | m.4174T= | CA414774345 | MT-ND1 | c.868T= (p.Ter290=) | |
MT | m.4175G>A | CA414774346 | MT-ND1 | c.869G>A (p.Ter290=) | |
MT | m.4175G>C | CA414774347 | MT-ND1 | c.869G>C (p.Ter290Ser) | |
MT | m.4175G= | CA414774348 | MT-ND1 | c.869G= (p.Ter290=) | |
MT | m.4175G>T | CA414774349 | MT-ND1 | c.869G>T (p.Ter290Leu) | |
MT | m.4175_4176delinsGA | CA2499563768 | MT-ND1 | c.869_870delinsGA (p.Ter290=) | |
MT | m.4176A= | CA414774350 | MT-ND1 | c.870A= (p.Ter290=) | |
MT | m.4176A>C | CA414774351 | MT-ND1 | c.870A>C (p.Ter290Cys) | |
MT | m.4176A>G | CA414774352 | MT-ND1 | c.870A>G (p.Ter290Trp) | dbSNP |
MT | m.4176A>T | CA414774353 | MT-ND1 | c.870A>T (p.Ter290Cys) | |
MT | m.4181del | CA920599343 | MT-ND1 | c.875del (p.Asn292ThrfsTer7) | dbSNP |
MT | m.4177A= | CA913177106 | MT-ND1 | c.871A= (p.Lys291=) | |
MT | m.4177A>C | CA414774356 | MT-ND1 | c.871A>C (p.Lys291Gln) | |
MT | m.4177A>G | CA414774355 | MT-ND1 | c.871A>G (p.Lys291Glu) | |
MT | m.4177A>T | CA414774354 | MT-ND1 | c.871A>T (p.Lys291Ter) | |
MT | m.4178A= | CA2573329385 | MT-ND1 | c.872A= (p.Lys291=) | |
MT | m.4178A>C | CA414774357 | MT-ND1 | c.872A>C (p.Lys291Thr) | |
MT | m.4178A>G | CA414774358 | MT-ND1 | c.872A>G (p.Lys291Arg) | |
MT | m.4178A>T | CA414774359 | MT-ND1 | c.872A>T (p.Lys291Ile) | |
MT | m.4179A= | CA2573329386 | MT-ND1 | c.873A= (p.Lys291=) | |
MT | m.4179A>C | CA414774360 | MT-ND1 | c.873A>C (p.Lys291Asn) | |
MT | m.4179A>G | CA913177114 | MT-ND1 | c.873A>G (p.Lys291=) | |
MT | m.4179A>T | CA414774361 | MT-ND1 | c.873A>T (p.Lys291Asn) | |
MT | m.4180A= | CA2499563769 | MT-ND1 | c.874A= (p.Asn292=) | |
MT | m.4180A>C | CA414774362 | MT-ND1 | c.874A>C (p.Asn292His) | |
MT | m.4180A>G | CA414774363 | MT-ND1 | c.874A>G (p.Asn292Asp) | ClinVar dbSNP |
MT | m.4180A>T | CA414774364 | MT-ND1 | c.874A>T (p.Asn292Tyr) | |
MT | m.4181A= | CA2573329392 | MT-ND1 | c.875A= (p.Asn292=) | |
MT | m.4181A>C | CA414774365 | MT-ND1 | c.875A>C (p.Asn292Thr) | |
MT | m.4181A>G | CA414774366 | MT-ND1 | c.875A>G (p.Asn292Ser) | |
MT | m.4181A>T | CA414774367 | MT-ND1 | c.875A>T (p.Asn292Ile) | |
MT | m.4182C>A | CA414774368 | MT-ND1 | c.876C>A (p.Asn292Lys) | |
MT | m.4182C= | CA2499563770 | MT-ND1 | c.876C= (p.Asn292=) | |
MT | m.4182C>G | CA414774369 | MT-ND1 | c.876C>G (p.Asn292Lys) | |
MT | m.4182C>T | CA913177128 | MT-ND1 | c.876C>T (p.Asn292=) | dbSNP |