Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65029540_65029541delinsTG | CA2183422909 | MTFMT | c.73_74delinsCA (p.Gln25=) n.34_35delinsCA c.58_59delinsCA (p.Gln20=) n.88_89delinsCA | |
15 | g.65029541G>A | CA156425 | MTFMT | c.73C>T (p.Gln25Ter) n.34C>T c.58C>T (p.Gln20Ter) n.88C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65029541G>C | CA392863222 | MTFMT | c.73C>G (p.Gln25Glu) n.34C>G c.58C>G (p.Gln20Glu) n.88C>G | |
15 | g.65029541G= | CA2183422910 | MTFMT | c.73C= (p.Gln25=) n.34C= c.58C= (p.Gln20=) n.88C= | |
15 | g.65029541G>T | CA392863226 | MTFMT | c.73C>A (p.Gln25Lys) n.34C>A c.58C>A (p.Gln20Lys) n.88C>A | gnomAD v4 |
15 | g.65029544dup | CA7613438 | MTFMT | c.73dup (p.Gln25ProfsTer?) n.34dup c.58dup (p.Gln20ProfsTer?) n.88dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65029544del | CA2183422911 | MTFMT | c.73del (p.Gln25SerfsTer?) n.34del c.58del (p.Gln20SerfsTer?) n.88del | dbSNP gnomAD v4 |
15 | g.65029542G>A | CA490827001 | MTFMT | c.72C>T (p.Pro24=) n.33C>T c.57C>T (p.Pro19=) n.87C>T | dbSNP gnomAD v4 |
15 | g.65029542G>C | CA490827002 | MTFMT | c.72C>G (p.Pro24=) n.33C>G c.57C>G (p.Pro19=) n.87C>G | dbSNP |
15 | g.65029542G= | CA2183422912 | MTFMT | c.72C= (p.Pro24=) n.33C= c.57C= (p.Pro19=) n.87C= | |
15 | g.65029542G>T | CA490827003 | MTFMT | c.72C>A (p.Pro24=) n.33C>A c.57C>A (p.Pro19=) n.87C>A | gnomAD v4 |
15 | g.65029544_65029550del | CA2628983376 | MTFMT | c.66_72del (p.Pro24GlyfsTer?) n.27_33del c.51_57del (p.Pro19GlyfsTer?) n.81_87del | gnomAD v4 |
15 | g.65029543G>A | CA392863237 | MTFMT | c.71C>T (p.Pro24Leu) n.32C>T c.56C>T (p.Pro19Leu) n.86C>T | gnomAD v4 |
15 | g.65029543G>C | CA392863241 | MTFMT | c.71C>G (p.Pro24Arg) n.32C>G c.56C>G (p.Pro19Arg) n.86C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65029543G= | CA2183422913 | MTFMT | c.71C= (p.Pro24=) n.32C= c.56C= (p.Pro19=) n.86C= | |
15 | g.65029543G>T | CA392863245 | MTFMT | c.71C>A (p.Pro24His) n.32C>A c.56C>A (p.Pro19His) n.86C>A | gnomAD v4 |
15 | g.65029544G>A | CA392863246 | MTFMT | c.70C>T (p.Pro24Ser) n.31C>T c.55C>T (p.Pro19Ser) n.85C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65029544G>C | CA392863247 | MTFMT | c.70C>G (p.Pro24Ala) n.31C>G c.55C>G (p.Pro19Ala) n.85C>G | |
15 | g.65029544G= | CA2183422914 | MTFMT | c.70C= (p.Pro24=) n.31C= c.55C= (p.Pro19=) n.85C= | |
15 | g.65029544G>T | CA392863248 | MTFMT | c.70C>A (p.Pro24Thr) n.31C>A c.55C>A (p.Pro19Thr) n.85C>A | gnomAD v4 |
15 | g.65029545A>C | CA392863251 | MTFMT | c.69T>G (p.Ser23Arg) n.30T>G c.54T>G (p.Ser18Arg) n.84T>G | gnomAD v4 |
15 | g.65029545A>G | CA490827004 | MTFMT | c.69T>C (p.Ser23=) n.30T>C c.54T>C (p.Ser18=) n.84T>C | gnomAD v4 |
15 | g.65029545A>T | CA392863254 | MTFMT | c.69T>A (p.Ser23Arg) n.30T>A c.54T>A (p.Ser18Arg) n.84T>A | |
15 | g.65029546C>A | CA392863261 | MTFMT | c.68G>T (p.Ser23Ile) n.29G>T c.53G>T (p.Ser18Ile) n.83G>T | gnomAD v4 |
15 | g.65029546C= | CA2183422915 | MTFMT | c.68G= (p.Ser23=) n.29G= c.53G= (p.Ser18=) n.83G= | |
15 | g.65029546C>G | CA271504818 | MTFMT | c.68G>C (p.Ser23Thr) n.29G>C c.53G>C (p.Ser18Thr) n.83G>C | dbSNP |
15 | g.65029546C>T | CA392863265 | MTFMT | c.68G>A (p.Ser23Asn) n.29G>A c.53G>A (p.Ser18Asn) n.83G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65029547T>A | CA392863273 | MTFMT | c.67A>T (p.Ser23Cys) n.28A>T c.52A>T (p.Ser18Cys) n.82A>T | |
15 | g.65029547T>C | CA392863276 | MTFMT | c.67A>G (p.Ser23Gly) n.28A>G c.52A>G (p.Ser18Gly) n.82A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65029547T>G | CA392863270 | MTFMT | c.67A>C (p.Ser23Arg) n.28A>C c.52A>C (p.Ser18Arg) n.82A>C | |
15 | g.65029547T= | CA2183422916 | MTFMT | c.67A= (p.Ser23=) n.28A= c.52A= (p.Ser18=) n.82A= | |
15 | g.65029548C>A | CA490827006 | MTFMT | c.66G>T (p.Pro22=) n.27G>T c.51G>T (p.Pro17=) n.81G>T | gnomAD v4 |
15 | g.65029548C>G | CA490827007 | MTFMT | c.66G>C (p.Pro22=) n.27G>C c.51G>C (p.Pro17=) n.81G>C | |
15 | g.65029548C>T | CA490827005 | MTFMT | c.66G>A (p.Pro22=) n.27G>A c.51G>A (p.Pro17=) n.81G>A | gnomAD v4 |
15 | g.65029549G>A | CA392863280 | MTFMT | c.65C>T (p.Pro22Leu) n.26C>T c.50C>T (p.Pro17Leu) n.80C>T | gnomAD v4 |
15 | g.65029549G>C | CA392863282 | MTFMT | c.65C>G (p.Pro22Arg) n.26C>G c.50C>G (p.Pro17Arg) n.80C>G | |
15 | g.65029549G>T | CA392863284 | MTFMT | c.65C>A (p.Pro22Gln) n.26C>A c.50C>A (p.Pro17Gln) n.80C>A | gnomAD v4 |
15 | g.65029550del | CA2628983377 | MTFMT | c.65del (p.Pro22ArgfsTer?) n.26del c.50del (p.Pro17ArgfsTer?) n.80del | gnomAD v4 |
15 | g.65029550G>A | CA392863286 | MTFMT | c.64C>T (p.Pro22Ser) n.25C>T c.49C>T (p.Pro17Ser) n.79C>T | gnomAD v4 |
15 | g.65029550G>C | CA392863290 | MTFMT | c.64C>G (p.Pro22Ala) n.25C>G c.49C>G (p.Pro17Ala) n.79C>G | |
15 | g.65029550G>T | CA392863317 | MTFMT | c.64C>A (p.Pro22Thr) n.25C>A c.49C>A (p.Pro17Thr) n.79C>A | gnomAD v4 |
15 | g.65029551C>A | CA392863323 | MTFMT | c.63G>T (p.Arg21Ser) n.24G>T c.48G>T (p.Arg16Ser) n.78G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65029551C= | CA2183422917 | MTFMT | c.63G= (p.Arg21=) n.24G= c.48G= (p.Arg16=) n.78G= | |
15 | g.65029551C>G | CA392863327 | MTFMT | c.63G>C (p.Arg21Ser) n.24G>C c.48G>C (p.Arg16Ser) n.78G>C | |
15 | g.65029551C>T | CA490827008 | MTFMT | c.63G>A (p.Arg21=) n.24G>A c.48G>A (p.Arg16=) n.78G>A | gnomAD v4 |
15 | g.65029552C>A | CA392863328 | MTFMT | c.62G>T (p.Arg21Met) n.23G>T c.47G>T (p.Arg16Met) n.77G>T | gnomAD v4 |
15 | g.65029552C= | CA2183422918 | MTFMT | c.62G= (p.Arg21=) n.23G= c.47G= (p.Arg16=) n.77G= | |
15 | g.65029552C>G | CA392863329 | MTFMT | c.62G>C (p.Arg21Thr) n.23G>C c.47G>C (p.Arg16Thr) n.77G>C | dbSNP |
15 | g.65029552C>T | CA392863330 | MTFMT | c.62G>A (p.Arg21Lys) n.23G>A c.47G>A (p.Arg16Lys) n.77G>A | gnomAD v4 |
15 | g.65029553T>A | CA392863333 | MTFMT | c.61A>T (p.Arg21Trp) n.22A>T c.46A>T (p.Arg16Trp) n.76A>T |