Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65006127C>A | CA392846979 | MTFMT | c.878G>T (p.Ser293Ile) c.753G>T (n.753G>T) c.623G>T (p.Ser208Ile) c.1031G>T (p.Ser344Ile) | |
15 | g.65006127C= | CA2183412252 | MTFMT | c.878G= (p.Ser293=) c.753G= (n.753G=) c.623G= (p.Ser208=) c.1031G= (p.Ser344=) | |
15 | g.65006127C>G | CA392846982 | MTFMT | c.878G>C (p.Ser293Thr) c.753G>C (n.753G>C) c.623G>C (p.Ser208Thr) c.1031G>C (p.Ser344Thr) | |
15 | g.65006127C>T | CA156423 | MTFMT | c.878G>A (p.Ser293Asn) c.753G>A (n.753G>A) c.623G>A (p.Ser208Asn) c.1031G>A (p.Ser344Asn) | ClinVar dbSNP gnomAD v4 |
15 | g.65006128T>A | CA392846986 | MTFMT | c.877A>T (p.Ser293Cys) c.752A>T (n.752A>T) c.622A>T (p.Ser208Cys) c.1030A>T (p.Ser344Cys) | |
15 | g.65006128T>C | CA392846989 | MTFMT | c.877A>G (p.Ser293Gly) c.752A>G (n.752A>G) c.622A>G (p.Ser208Gly) c.1030A>G (p.Ser344Gly) | |
15 | g.65006128T>G | CA392846992 | MTFMT | c.877A>C (p.Ser293Arg) c.752A>C (n.752A>C) c.622A>C (p.Ser208Arg) c.1030A>C (p.Ser344Arg) | |
15 | g.65006129G>A | CA490824194 | MTFMT | c.876C>T (p.Asn292=) c.751C>T (n.751C>T) c.621C>T (p.Asn207=) c.1029C>T (p.Asn343=) | gnomAD v4 |
15 | g.65006129G>C | CA271491076 | MTFMT | c.876C>G (p.Asn292Lys) c.751C>G (n.751C>G) c.621C>G (p.Asn207Lys) c.1029C>G (p.Asn343Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.65006129G= | CA2183412253 | MTFMT | c.876C= (p.Asn292=) c.751C= (n.751C=) c.621C= (p.Asn207=) c.1029C= (p.Asn343=) | |
15 | g.65006129G>T | CA392846995 | MTFMT | c.876C>A (p.Asn292Lys) c.751C>A (n.751C>A) c.621C>A (p.Asn207Lys) c.1029C>A (p.Asn343Lys) | |
15 | g.65006130T>A | CA392846999 | MTFMT | c.875A>T (p.Asn292Ile) c.750A>T (n.750A>T) c.620A>T (p.Asn207Ile) c.1028A>T (p.Asn343Ile) | |
15 | g.65006130T>C | CA392846997 | MTFMT | c.875A>G (p.Asn292Ser) c.750A>G (n.750A>G) c.620A>G (p.Asn207Ser) c.1028A>G (p.Asn343Ser) | |
15 | g.65006130T>G | CA392846998 | MTFMT | c.875A>C (p.Asn292Thr) c.750A>C (n.750A>C) c.620A>C (p.Asn207Thr) c.1028A>C (p.Asn343Thr) | |
15 | g.65006131T>A | CA392847000 | MTFMT | c.874A>T (p.Asn292Tyr) c.749A>T (n.749A>T) c.619A>T (p.Asn207Tyr) c.1027A>T (p.Asn343Tyr) | |
15 | g.65006131T>C | CA392847002 | MTFMT | c.874A>G (p.Asn292Asp) c.749A>G (n.749A>G) c.619A>G (p.Asn207Asp) c.1027A>G (p.Asn343Asp) | |
15 | g.65006131T>G | CA392847004 | MTFMT | c.874A>C (p.Asn292His) c.749A>C (n.749A>C) c.619A>C (p.Asn207His) c.1027A>C (p.Asn343His) | |
15 | g.65006132A>C | CA490824195 | MTFMT | c.873T>G (p.Val291=) c.748T>G (n.748T>G) c.618T>G (p.Val206=) c.1026T>G (p.Val342=) | |
15 | g.65006132A>G | CA490824196 | MTFMT | c.873T>C (p.Val291=) c.748T>C (n.748T>C) c.618T>C (p.Val206=) c.1026T>C (p.Val342=) | |
15 | g.65006132A>T | CA490824197 | MTFMT | c.873T>A (p.Val291=) c.748T>A (n.748T>A) c.618T>A (p.Val206=) c.1026T>A (p.Val342=) | |
15 | g.65006133A>C | CA392847009 | MTFMT | c.872T>G (p.Val291Gly) c.747T>G (n.747T>G) c.617T>G (p.Val206Gly) c.1025T>G (p.Val342Gly) | |
15 | g.65006133A>G | CA392847010 | MTFMT | c.872T>C (p.Val291Ala) c.747T>C (n.747T>C) c.617T>C (p.Val206Ala) c.1025T>C (p.Val342Ala) | |
15 | g.65006133A>T | CA392847012 | MTFMT | c.872T>A (p.Val291Asp) c.747T>A (n.747T>A) c.617T>A (p.Val206Asp) c.1025T>A (p.Val342Asp) | |
15 | g.65006134C>A | CA392847016 | MTFMT | c.871G>T (p.Val291Phe) c.746G>T (n.746G>T) c.616G>T (p.Val206Phe) c.1024G>T (p.Val342Phe) | |
15 | g.65006134C>G | CA392847023 | MTFMT | c.871G>C (p.Val291Leu) c.746G>C (n.746G>C) c.616G>C (p.Val206Leu) c.1024G>C (p.Val342Leu) | |
15 | g.65006134C>T | CA392847026 | MTFMT | c.871G>A (p.Val291Ile) c.746G>A (n.746G>A) c.616G>A (p.Val206Ile) c.1024G>A (p.Val342Ile) | |
15 | g.65006135T>A | CA392847029 | MTFMT | c.870A>T (p.Glu290Asp) c.745A>T (n.745A>T) c.615A>T (p.Glu205Asp) c.1023A>T (p.Glu341Asp) | |
15 | g.65006135T>C | CA490824198 | MTFMT | c.870A>G (p.Glu290=) c.745A>G (n.745A>G) c.615A>G (p.Glu205=) c.1023A>G (p.Glu341=) | |
15 | g.65006135T>G | CA392847032 | MTFMT | c.870A>C (p.Glu290Asp) c.745A>C (n.745A>C) c.615A>C (p.Glu205Asp) c.1023A>C (p.Glu341Asp) | |
15 | g.65006136T>A | CA392847034 | MTFMT | c.869A>T (p.Glu290Val) c.744A>T (n.744A>T) c.614A>T (p.Glu205Val) c.1022A>T (p.Glu341Val) | |
15 | g.65006136T>C | CA392847039 | MTFMT | c.869A>G (p.Glu290Gly) c.744A>G (n.744A>G) c.614A>G (p.Glu205Gly) c.1022A>G (p.Glu341Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.65006136T>G | CA392847037 | MTFMT | c.869A>C (p.Glu290Ala) c.744A>C (n.744A>C) c.614A>C (p.Glu205Ala) c.1022A>C (p.Glu341Ala) | |
15 | g.65006136T= | CA2183412254 | MTFMT | c.869A= (p.Glu290=) c.744A= (n.744A=) c.614A= (p.Glu205=) c.1022A= (p.Glu341=) | |
15 | g.65006137C>A | CA392847044 | MTFMT | c.868G>T (p.Glu290Ter) c.743G>T (n.743G>T) c.613G>T (p.Glu205Ter) c.1021G>T (p.Glu341Ter) | |
15 | g.65006137C>G | CA392847046 | MTFMT | c.868G>C (p.Glu290Gln) c.743G>C (n.743G>C) c.613G>C (p.Glu205Gln) c.1021G>C (p.Glu341Gln) | gnomAD v4 |
15 | g.65006137C>T | CA392847050 | MTFMT | c.868G>A (p.Glu290Lys) c.743G>A (n.743G>A) c.613G>A (p.Glu205Lys) c.1021G>A (p.Glu341Lys) | |
15 | g.65006138T>A | CA490824199 | MTFMT | c.867A>T (p.Val289=) c.742A>T (n.742A>T) c.612A>T (p.Val204=) c.1020A>T (p.Val340=) | |
15 | g.65006138T>C | CA490824200 | MTFMT | c.867A>G (p.Val289=) c.742A>G (n.742A>G) c.612A>G (p.Val204=) c.1020A>G (p.Val340=) | |
15 | g.65006138T>G | CA490824201 | MTFMT | c.867A>C (p.Val289=) c.742A>C (n.742A>C) c.612A>C (p.Val204=) c.1020A>C (p.Val340=) | |
15 | g.65006139A>C | CA392847057 | MTFMT | c.866T>G (p.Val289Gly) c.741T>G (n.741T>G) c.611T>G (p.Val204Gly) c.1019T>G (p.Val340Gly) | |
15 | g.65006139A>G | CA392847059 | MTFMT | c.866T>C (p.Val289Ala) c.741T>C (n.741T>C) c.611T>C (p.Val204Ala) c.1019T>C (p.Val340Ala) | |
15 | g.65006139A>T | CA392847063 | MTFMT | c.866T>A (p.Val289Glu) c.741T>A (n.741T>A) c.611T>A (p.Val204Glu) c.1019T>A (p.Val340Glu) | |
15 | g.65006140C>A | CA392847068 | MTFMT | c.865G>T (p.Val289Leu) c.740G>T (n.740G>T) c.610G>T (p.Val204Leu) c.1018G>T (p.Val340Leu) | |
15 | g.65006140C>G | CA392847069 | MTFMT | c.865G>C (p.Val289Leu) c.740G>C (n.740G>C) c.610G>C (p.Val204Leu) c.1018G>C (p.Val340Leu) | |
15 | g.65006140C>T | CA392847071 | MTFMT | c.865G>A (p.Val289Ile) c.740G>A (n.740G>A) c.610G>A (p.Val204Ile) c.1018G>A (p.Val340Ile) | |
15 | g.65006141C>A | CA392847073 | MTFMT | c.864G>T (p.Leu288Phe) c.739G>T (n.739G>T) c.609G>T (p.Leu203Phe) c.1017G>T (p.Leu339Phe) | |
15 | g.65006141C>G | CA392847077 | MTFMT | c.864G>C (p.Leu288Phe) c.739G>C (n.739G>C) c.609G>C (p.Leu203Phe) c.1017G>C (p.Leu339Phe) | |
15 | g.65006141C>T | CA490824202 | MTFMT | c.864G>A (p.Leu288=) c.739G>A (n.739G>A) c.609G>A (p.Leu203=) c.1017G>A (p.Leu339=) | |
15 | g.65006142A>C | CA392847081 | MTFMT | c.863T>G (p.Leu288Trp) c.738T>G (n.738T>G) c.608T>G (p.Leu203Trp) c.1016T>G (p.Leu339Trp) | |
15 | g.65006142A>G | CA392847087 | MTFMT | c.863T>C (p.Leu288Ser) c.738T>C (n.738T>C) c.608T>C (p.Leu203Ser) c.1016T>C (p.Leu339Ser) |