| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.123053091del | CA2574697383 | ACADSB | c.1159del (p.Glu387SerfsTer6) c.853del (p.Glu285SerfsTer6) n.331del | |
| 10 | g.123053091G>A | CA120179 | ACADSB | c.1159G>A (p.Glu387Lys) c.853G>A (p.Glu285Lys) n.331G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.123053091G>C | CA378622686 | ACADSB | c.1159G>C (p.Glu387Gln) c.853G>C (p.Glu285Gln) n.331G>C | |
| 10 | g.123053091G= | CA1941713712 | ACADSB | c.1159G= (p.Glu387=) c.853G= (p.Glu285=) n.331G= | |
| 10 | g.123053091G>T | CA378622687 | ACADSB | c.1159G>T (p.Glu387Ter) c.853G>T (p.Glu285Ter) n.331G>T | |
| 10 | g.123053092A>C | CA378622688 | ACADSB | c.1160A>C (p.Glu387Ala) c.854A>C (p.Glu285Ala) n.332A>C | |
| 10 | g.123053092A>G | CA378622689 | ACADSB | c.1160A>G (p.Glu387Gly) c.854A>G (p.Glu285Gly) n.332A>G | |
| 10 | g.123053092A>T | CA378622690 | ACADSB | c.1160A>T (p.Glu387Val) c.854A>T (p.Glu285Val) n.332A>T | |
| 10 | g.123053093G>A | CA471760552 | ACADSB | c.1161G>A (p.Glu387=) c.855G>A (p.Glu285=) n.333G>A | |
| 10 | g.123053093G>C | CA378622691 | ACADSB | c.1161G>C (p.Glu387Asp) c.855G>C (p.Glu285Asp) n.333G>C | |
| 10 | g.123053093G>T | CA378622692 | ACADSB | c.1161G>T (p.Glu387Asp) c.855G>T (p.Glu285Asp) n.333G>T | |
| 10 | g.123053094T>A | CA378622695 | ACADSB | c.1162T>A (p.Trp388Arg) c.856T>A (p.Trp286Arg) n.334T>A | |
| 10 | g.123053094T>C | CA378622694 | ACADSB | c.1162T>C (p.Trp388Arg) c.856T>C (p.Trp286Arg) n.334T>C | |
| 10 | g.123053094T>G | CA378622693 | ACADSB | c.1162T>G (p.Trp388Gly) c.856T>G (p.Trp286Gly) n.334T>G | |
| 10 | g.123053095G>A | CA378622696 | ACADSB | c.1163G>A (p.Trp388Ter) c.857G>A (p.Trp286Ter) n.335G>A | |
| 10 | g.123053095G>C | CA378622697 | ACADSB | c.1163G>C (p.Trp388Ser) c.857G>C (p.Trp286Ser) n.335G>C | |
| 10 | g.123053095G>T | CA378622698 | ACADSB | c.1163G>T (p.Trp388Leu) c.857G>T (p.Trp286Leu) n.335G>T | |
| 10 | g.123053096G>A | CA378622699 | ACADSB | c.1164G>A (p.Trp388Ter) c.858G>A (p.Trp286Ter) n.336G>A | |
| 10 | g.123053096G>C | CA378622700 | ACADSB | c.1164G>C (p.Trp388Cys) c.858G>C (p.Trp286Cys) n.336G>C | |
| 10 | g.123053096G= | CA1941713715 | ACADSB | c.1164G= (p.Trp388=) c.858G= (p.Trp286=) n.336G= | |
| 10 | g.123053096G>T | CA378622701 | ACADSB | c.1164G>T (p.Trp388Cys) c.858G>T (p.Trp286Cys) n.336G>T | |
| 10 | g.123053097A= | CA1941713722 | ACADSB | c.1165A= (p.Met389=) c.859A= (p.Met287=) n.337A= | |
| 10 | g.123053097A>C | CA378622702 | ACADSB | c.1165A>C (p.Met389Leu) c.859A>C (p.Met287Leu) n.337A>C | |
| 10 | g.123053097A>G | CA5730948 | ACADSB | c.1165A>G (p.Met389Val) c.859A>G (p.Met287Val) n.337A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.123053097A>T | CA378622703 | ACADSB | c.1165A>T (p.Met389Leu) c.859A>T (p.Met287Leu) n.337A>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.123053097dup | CA1941713721 | ACADSB | c.1165dup (p.Met389AsnfsTer26) c.859dup (p.Met287AsnfsTer26) n.337dup | dbSNP |
| 10 | g.123053098T>A | CA378622704 | ACADSB | c.1166T>A (p.Met389Lys) c.860T>A (p.Met287Lys) n.338T>A | |
| 10 | g.123053098T>C | CA378622705 | ACADSB | c.1166T>C (p.Met389Thr) c.860T>C (p.Met287Thr) n.338T>C | gnomAD v4 |
| 10 | g.123053098T>G | CA378622706 | ACADSB | c.1166T>G (p.Met389Arg) c.860T>G (p.Met287Arg) n.338T>G | |
| 10 | g.123053098T= | CA1941713727 | ACADSB | c.1166T= (p.Met389=) c.860T= (p.Met287=) n.338T= | |
| 10 | g.123053099G>A | CA215172091 | ACADSB | c.1167G>A (p.Met389Ile) c.861G>A (p.Met287Ile) n.339G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.123053099G>C | CA378622708 | ACADSB | c.1167G>C (p.Met389Ile) c.861G>C (p.Met287Ile) n.339G>C | |
| 10 | g.123053099G= | CA1941713729 | ACADSB | c.1167G= (p.Met389=) c.861G= (p.Met287=) n.339G= | |
| 10 | g.123053099G>T | CA378622707 | ACADSB | c.1167G>T (p.Met389Ile) c.861G>T (p.Met287Ile) n.339G>T | gnomAD v4 COSMIC |
| 10 | g.123053104dup | CA660967096 | ACADSB | c.1172dup (p.Val392SerfsTer23) c.866dup (p.Val290SerfsTer23) n.344dup | dbSNP gnomAD v4 |
| 10 | g.123053104del | CA2739276039 | ACADSB | c.1172del (p.Gly391GlufsTer2) c.866del (p.Gly289GlufsTer2) n.344del | |
| 10 | g.123053100G>A | CA5730949 | ACADSB | c.1168G>A (p.Gly390Arg) c.862G>A (p.Gly288Arg) n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.123053100G>C | CA378622709 | ACADSB | c.1168G>C (p.Gly390Arg) c.862G>C (p.Gly288Arg) n.340G>C | gnomAD v4 |
| 10 | g.123053100G= | CA1941713732 | ACADSB | c.1168G= (p.Gly390=) c.862G= (p.Gly288=) n.340G= | |
| 10 | g.123053100G>T | CA215172094 | ACADSB | c.1168G>T (p.Gly390Trp) c.862G>T (p.Gly288Trp) n.340G>T | dbSNP gnomAD v4 |
| 10 | g.123053101_123053106dup | CA2611279716 | ACADSB | c.1169_1174dup (p.Gly391_Val392insGlyGly) c.863_868dup (p.Gly289_Val290insGlyGly) n.341_346dup | gnomAD v4 |
| 10 | g.123053101G>A | CA378622710 | ACADSB | c.1169G>A (p.Gly390Glu) c.863G>A (p.Gly288Glu) n.341G>A | dbSNP gnomAD v4 |
| 10 | g.123053101G>C | CA378622711 | ACADSB | c.1169G>C (p.Gly390Ala) c.863G>C (p.Gly288Ala) n.341G>C | gnomAD v4 |
| 10 | g.123053101G= | CA1941713736 | ACADSB | c.1169G= (p.Gly390=) c.863G= (p.Gly288=) n.341G= | |
| 10 | g.123053101G>T | CA378622712 | ACADSB | c.1169G>T (p.Gly390Val) c.863G>T (p.Gly288Val) n.341G>T | COSMIC |
| 10 | g.123053102G>A | CA471760565 | ACADSB | c.1170G>A (p.Gly390=) c.864G>A (p.Gly288=) n.342G>A | gnomAD v4 |
| 10 | g.123053102G>C | CA471760567 | ACADSB | c.1170G>C (p.Gly390=) c.864G>C (p.Gly288=) n.342G>C | |
| 10 | g.123053102G= | CA1941713744 | ACADSB | c.1170G= (p.Gly390=) c.864G= (p.Gly288=) n.342G= | |
| 10 | g.123053102G>T | CA10634851 | ACADSB | c.1170G>T (p.Gly390=) c.864G>T (p.Gly288=) n.342G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.123053103G>A | CA378622713 | ACADSB | c.1171G>A (p.Gly391Arg) c.865G>A (p.Gly289Arg) n.343G>A | gnomAD v4 |