Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.123051089A>C | CA378621887 | ACADSB | c.1031A>C (p.Glu344Ala) c.725A>C (p.Glu242Ala) | |
10 | g.123051089A>G | CA378621888 | ACADSB | c.1031A>G (p.Glu344Gly) c.725A>G (p.Glu242Gly) | |
10 | g.123051089A>T | CA378621890 | ACADSB | c.1031A>T (p.Glu344Val) c.725A>T (p.Glu242Val) | |
10 | g.123051090A>C | CA378621891 | ACADSB | c.1032A>C (p.Glu344Asp) c.726A>C (p.Glu242Asp) | |
10 | g.123051090A>G | CA471760337 | ACADSB | c.1032A>G (p.Glu344=) c.726A>G (p.Glu242=) | |
10 | g.123051090A>T | CA378621893 | ACADSB | c.1032A>T (p.Glu344Asp) c.726A>T (p.Glu242Asp) | |
10 | g.123051091G>A | CA378621895 | ACADSB | c.1033G>A (p.Ala345Thr) c.727G>A (p.Ala243Thr) | ClinVar |
10 | g.123051091G>C | CA378621898 | ACADSB | c.1033G>C (p.Ala345Pro) c.727G>C (p.Ala243Pro) | dbSNP gnomAD v4 |
10 | g.123051091G>T | CA378621896 | ACADSB | c.1033G>T (p.Ala345Ser) c.727G>T (p.Ala243Ser) | |
10 | g.123051092C>A | CA378621900 | ACADSB | c.1034C>A (p.Ala345Asp) c.728C>A (p.Ala243Asp) | |
10 | g.123051092C= | CA1941725065 | ACADSB | c.1034C= (p.Ala345=) c.728C= (p.Ala243=) | |
10 | g.123051092C>G | CA378621903 | ACADSB | c.1034C>G (p.Ala345Gly) c.728C>G (p.Ala243Gly) | gnomAD v4 |
10 | g.123051092C>T | CA378621901 | ACADSB | c.1034C>T (p.Ala345Val) c.728C>T (p.Ala243Val) | dbSNP gnomAD v4 |
10 | g.123051093T>A | CA471760338 | ACADSB | c.1035T>A (p.Ala345=) c.729T>A (p.Ala243=) | |
10 | g.123051093T>C | CA471760339 | ACADSB | c.1035T>C (p.Ala345=) c.729T>C (p.Ala243=) | dbSNP gnomAD v4 |
10 | g.123051093T>G | CA471760340 | ACADSB | c.1035T>G (p.Ala345=) c.729T>G (p.Ala243=) | |
10 | g.123051094G>A | CA378621905 | ACADSB | c.1036G>A (p.Ala346Thr) c.730G>A (p.Ala244Thr) | dbSNP gnomAD v4 |
10 | g.123051094G>C | CA378621908 | ACADSB | c.1036G>C (p.Ala346Pro) c.730G>C (p.Ala244Pro) | |
10 | g.123051094G>T | CA378621907 | ACADSB | c.1036G>T (p.Ala346Ser) c.730G>T (p.Ala244Ser) | |
10 | g.123051095C>A | CA378621909 | ACADSB | c.1037C>A (p.Ala346Glu) c.731C>A (p.Ala244Glu) | |
10 | g.123051095C>G | CA378621912 | ACADSB | c.1037C>G (p.Ala346Gly) c.731C>G (p.Ala244Gly) | |
10 | g.123051095C>T | CA378621910 | ACADSB | c.1037C>T (p.Ala346Val) c.731C>T (p.Ala244Val) | gnomAD v4 |
10 | g.123051096A= | CA1941725072 | ACADSB | c.1038A= (p.Ala346=) c.732A= (p.Ala244=) | |
10 | g.123051096A>C | CA471760341 | ACADSB | c.1038A>C (p.Ala346=) c.732A>C (p.Ala244=) | dbSNP gnomAD v4 |
10 | g.123051096A>G | CA471760342 | ACADSB | c.1038A>G (p.Ala346=) c.732A>G (p.Ala244=) | |
10 | g.123051096A>T | CA471760343 | ACADSB | c.1038A>T (p.Ala346=) c.732A>T (p.Ala244=) | |
10 | g.123051097A>C | CA471760344 | ACADSB | c.1039A>C (p.Arg347=) c.733A>C (p.Arg245=) | |
10 | g.123051097A>G | CA378621914 | ACADSB | c.1039A>G (p.Arg347Gly) c.733A>G (p.Arg245Gly) | |
10 | g.123051097A>T | CA378621915 | ACADSB | c.1039A>T (p.Arg347Ter) c.733A>T (p.Arg245Ter) | |
10 | g.123051098G>A | CA378621916 | ACADSB | c.1040G>A (p.Arg347Lys) c.734G>A (p.Arg245Lys) | COSMIC |
10 | g.123051098G>C | CA5730901 | ACADSB | c.1040G>C (p.Arg347Thr) c.734G>C (p.Arg245Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.123051098G= | CA1941725076 | ACADSB | c.1040G= (p.Arg347=) c.734G= (p.Arg245=) | |
10 | g.123051098G>T | CA378621918 | ACADSB | c.1040G>T (p.Arg347Ile) c.734G>T (p.Arg245Ile) | |
10 | g.123051099A>C | CA378621920 | ACADSB | c.1041A>C (p.Arg347Ser) c.735A>C (p.Arg245Ser) | |
10 | g.123051099A>G | CA471760345 | ACADSB | c.1041A>G (p.Arg347=) c.735A>G (p.Arg245=) | ClinVar |
10 | g.123051099A>T | CA378621921 | ACADSB | c.1041A>T (p.Arg347Ser) c.735A>T (p.Arg245Ser) | gnomAD v4 |
10 | g.123051100T>A | CA378621923 | ACADSB | c.1042T>A (p.Leu348Ile) c.736T>A (p.Leu246Ile) | |
10 | g.123051100T>C | CA471760346 | ACADSB | c.1042T>C (p.Leu348=) c.736T>C (p.Leu246=) | |
10 | g.123051100T>G | CA378621925 | ACADSB | c.1042T>G (p.Leu348Val) c.736T>G (p.Leu246Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051100T= | CA1941725083 | ACADSB | c.1042T= (p.Leu348=) c.736T= (p.Leu246=) | |
10 | g.123051101T>A | CA378621927 | ACADSB | c.1043T>A (p.Leu348Ter) c.737T>A (p.Leu246Ter) | |
10 | g.123051101T>C | CA378621928 | ACADSB | c.1043T>C (p.Leu348Ser) c.737T>C (p.Leu246Ser) | |
10 | g.123051101T>G | CA378621929 | ACADSB | c.1043T>G (p.Leu348Ter) c.737T>G (p.Leu246Ter) | COSMIC |
10 | g.123051102A>C | CA378621931 | ACADSB | c.1044A>C (p.Leu348Phe) c.738A>C (p.Leu246Phe) | |
10 | g.123051102A>G | CA471760347 | ACADSB | c.1044A>G (p.Leu348=) c.738A>G (p.Leu246=) | |
10 | g.123051102A>T | CA378621932 | ACADSB | c.1044A>T (p.Leu348Phe) c.738A>T (p.Leu246Phe) | |
10 | g.123051103C>A | CA378621934 | ACADSB | c.1045C>A (p.Leu349Ile) c.739C>A (p.Leu247Ile) | |
10 | g.123051103C= | CA1941725086 | ACADSB | c.1045C= (p.Leu349=) c.739C= (p.Leu247=) | |
10 | g.123051103C>G | CA378621936 | ACADSB | c.1045C>G (p.Leu349Val) c.739C>G (p.Leu247Val) | |
10 | g.123051103C>T | CA471760348 | ACADSB | c.1045C>T (p.Leu349=) c.739C>T (p.Leu247=) | dbSNP |
10 | g.123051104T>A | CA378621937 | ACADSB | c.1046T>A (p.Leu349Gln) c.740T>A (p.Leu247Gln) | |
10 | g.123051104T>C | CA378621938 | ACADSB | c.1046T>C (p.Leu349Pro) c.740T>C (p.Leu247Pro) | |
10 | g.123051104T>G | CA378621940 | ACADSB | c.1046T>G (p.Leu349Arg) c.740T>G (p.Leu247Arg) | |
10 | g.123051105A= | CA1941725088 | ACADSB | c.1047A= (p.Leu349=) c.741A= (p.Leu247=) | |
10 | g.123051105A>C | CA471760349 | ACADSB | c.1047A>C (p.Leu349=) c.741A>C (p.Leu247=) | |
10 | g.123051105A>G | CA5730902 | ACADSB | c.1047A>G (p.Leu349=) c.741A>G (p.Leu247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.123051105A>T | CA471760350 | ACADSB | c.1047A>T (p.Leu349=) c.741A>T (p.Leu247=) | |
10 | g.123051107_123051108insTTACATACATACATACTAGCAAC | CA2611279192 | ACADSB | c.1049_1050insTTACATACATACATACTAGCAAC (p.Asn352IlefsTer5) c.743_744insTTACATACATACATACTAGCAAC (p.Asn250IlefsTer5) | gnomAD v4 |
10 | g.123051106A>C | CA378621943 | ACADSB | c.1048A>C (p.Thr350Pro) c.742A>C (p.Thr248Pro) | |
10 | g.123051106A>G | CA378621944 | ACADSB | c.1048A>G (p.Thr350Ala) c.742A>G (p.Thr248Ala) | |
10 | g.123051106A>T | CA378621945 | ACADSB | c.1048A>T (p.Thr350Ser) c.742A>T (p.Thr248Ser) | |
10 | g.123051107C>A | CA378621947 | ACADSB | c.1049C>A (p.Thr350Lys) c.743C>A (p.Thr248Lys) | |
10 | g.123051107C>G | CA378621949 | ACADSB | c.1049C>G (p.Thr350Arg) c.743C>G (p.Thr248Arg) | |
10 | g.123051107C>T | CA378621951 | ACADSB | c.1049C>T (p.Thr350Ile) c.743C>T (p.Thr248Ile) | |
10 | g.123051108A>C | CA471760351 | ACADSB | c.1050A>C (p.Thr350=) c.744A>C (p.Thr248=) | |
10 | g.123051108A>G | CA471760352 | ACADSB | c.1050A>G (p.Thr350=) c.744A>G (p.Thr248=) | gnomAD v4 |
10 | g.123051108A>T | CA471760353 | ACADSB | c.1050A>T (p.Thr350=) c.744A>T (p.Thr248=) | |
10 | g.123051109T>A | CA378621953 | ACADSB | c.1051T>A (p.Tyr351Asn) c.745T>A (p.Tyr249Asn) | |
10 | g.123051109T>C | CA378621956 | ACADSB | c.1051T>C (p.Tyr351His) c.745T>C (p.Tyr249His) | dbSNP gnomAD v4 |
10 | g.123051109T>G | CA378621954 | ACADSB | c.1051T>G (p.Tyr351Asp) c.745T>G (p.Tyr249Asp) | |
10 | g.123051109T= | CA1941725091 | ACADSB | c.1051T= (p.Tyr351=) c.745T= (p.Tyr249=) | |
10 | g.123051110A= | CA1941725095 | ACADSB | c.1052A= (p.Tyr351=) c.746A= (p.Tyr249=) | |
10 | g.123051110A>C | CA378621958 | ACADSB | c.1052A>C (p.Tyr351Ser) c.746A>C (p.Tyr249Ser) | |
10 | g.123051110A>G | CA378621959 | ACADSB | c.1052A>G (p.Tyr351Cys) c.746A>G (p.Tyr249Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051110A>T | CA378621960 | ACADSB | c.1052A>T (p.Tyr351Phe) c.746A>T (p.Tyr249Phe) | |
10 | g.123051111C>A | CA378621962 | ACADSB | c.1053C>A (p.Tyr351Ter) c.747C>A (p.Tyr249Ter) | ClinVar gnomAD v4 |
10 | g.123051111C>G | CA378621964 | ACADSB | c.1053C>G (p.Tyr351Ter) c.747C>G (p.Tyr249Ter) | |
10 | g.123051111C>T | CA471760354 | ACADSB | c.1053C>T (p.Tyr351=) c.747C>T (p.Tyr249=) | |
10 | g.123051112A>C | CA378621966 | ACADSB | c.1054A>C (p.Asn352His) c.748A>C (p.Asn250His) | |
10 | g.123051112A>G | CA378621967 | ACADSB | c.1054A>G (p.Asn352Asp) c.748A>G (p.Asn250Asp) | gnomAD v4 |
10 | g.123051112A>T | CA378621969 | ACADSB | c.1054A>T (p.Asn352Tyr) c.748A>T (p.Asn250Tyr) | |
10 | g.123051113A>C | CA378621971 | ACADSB | c.1055A>C (p.Asn352Thr) c.749A>C (p.Asn250Thr) | |
10 | g.123051113A>G | CA378621972 | ACADSB | c.1055A>G (p.Asn352Ser) c.749A>G (p.Asn250Ser) | |
10 | g.123051113A>T | CA378621974 | ACADSB | c.1055A>T (p.Asn352Ile) c.749A>T (p.Asn250Ile) | |
10 | g.123051114T>A | CA378621975 | ACADSB | c.1056T>A (p.Asn352Lys) c.750T>A (p.Asn250Lys) | gnomAD v4 |
10 | g.123051114T>C | CA471760355 | ACADSB | c.1056T>C (p.Asn352=) c.750T>C (p.Asn250=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051114T>G | CA378621977 | ACADSB | c.1056T>G (p.Asn352Lys) c.750T>G (p.Asn250Lys) | dbSNP |
10 | g.123051114T= | CA1941725098 | ACADSB | c.1056T= (p.Asn352=) c.750T= (p.Asn250=) | |
10 | g.123051115G>A | CA378621979 | ACADSB | c.1057G>A (p.Ala353Thr) c.751G>A (p.Ala251Thr) | |
10 | g.123051115G>C | CA378621982 | ACADSB | c.1057G>C (p.Ala353Pro) c.751G>C (p.Ala251Pro) | |
10 | g.123051115G>T | CA378621981 | ACADSB | c.1057G>T (p.Ala353Ser) c.751G>T (p.Ala251Ser) | |
10 | g.123051116C>A | CA378621984 | ACADSB | c.1058C>A (p.Ala353Asp) c.752C>A (p.Ala251Asp) | |
10 | g.123051116C= | CA1941725101 | ACADSB | c.1058C= (p.Ala353=) c.752C= (p.Ala251=) | |
10 | g.123051116C>G | CA378621986 | ACADSB | c.1058C>G (p.Ala353Gly) c.752C>G (p.Ala251Gly) | |
10 | g.123051116C>T | CA378621987 | ACADSB | c.1058C>T (p.Ala353Val) c.752C>T (p.Ala251Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051117T>A | CA471760356 | ACADSB | c.1059T>A (p.Ala353=) c.753T>A (p.Ala251=) | |
10 | g.123051117T>C | CA471760357 | ACADSB | c.1059T>C (p.Ala353=) c.753T>C (p.Ala251=) | gnomAD v4 |
10 | g.123051117T>G | CA471760358 | ACADSB | c.1059T>G (p.Ala353=) c.753T>G (p.Ala251=) | |
10 | g.123051118G>A | CA5730903 | ACADSB | c.1060G>A (p.Ala354Thr) c.754G>A (p.Ala252Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051118G>C | CA215170515 | ACADSB | c.1060G>C (p.Ala354Pro) c.754G>C (p.Ala252Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.123051118G= | CA1941725112 | ACADSB | c.1060G= (p.Ala354=) c.754G= (p.Ala252=) | |
10 | g.123051118G>T | CA378621990 | ACADSB | c.1060G>T (p.Ala354Ser) c.754G>T (p.Ala252Ser) | |
10 | g.123051119C>A | CA378621992 | ACADSB | c.1061C>A (p.Ala354Asp) c.755C>A (p.Ala252Asp) | |
10 | g.123051119C>G | CA378621993 | ACADSB | c.1061C>G (p.Ala354Gly) c.755C>G (p.Ala252Gly) | |
10 | g.123051119C>T | CA378621995 | ACADSB | c.1061C>T (p.Ala354Val) c.755C>T (p.Ala252Val) | gnomAD v4 |
10 | g.123051120T>A | CA471760360 | ACADSB | c.1062T>A (p.Ala354=) c.756T>A (p.Ala252=) | |
10 | g.123051120T>C | CA10634848 | ACADSB | c.1062T>C (p.Ala354=) c.756T>C (p.Ala252=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051120T>G | CA471760359 | ACADSB | c.1062T>G (p.Ala354=) c.756T>G (p.Ala252=) | |
10 | g.123051120T= | CA1941725114 | ACADSB | c.1062T= (p.Ala354=) c.756T= (p.Ala252=) | |
10 | g.123051121A= | CA1941725120 | ACADSB | c.1063A= (p.Arg355=) c.757A= (p.Arg253=) | |
10 | g.123051121A>C | CA471760361 | ACADSB | c.1063A>C (p.Arg355=) c.757A>C (p.Arg253=) | |
10 | g.123051121A>G | CA378621999 | ACADSB | c.1063A>G (p.Arg355Gly) c.757A>G (p.Arg253Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.123051121A>T | CA378621997 | ACADSB | c.1063A>T (p.Arg355Trp) c.757A>T (p.Arg253Trp) | |
10 | g.123051122G>A | CA378622001 | ACADSB | c.1064G>A (p.Arg355Lys) c.758G>A (p.Arg253Lys) | |
10 | g.123051122G>C | CA378622003 | ACADSB | c.1064G>C (p.Arg355Thr) c.758G>C (p.Arg253Thr) | |
10 | g.123051122G>T | CA378622004 | ACADSB | c.1064G>T (p.Arg355Met) c.758G>T (p.Arg253Met) | |
10 | g.123051123G>A | CA5730904 | ACADSB | c.1065G>A (p.Arg355=) c.759G>A (p.Arg253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051123G>C | CA378622007 | ACADSB | c.1065G>C (p.Arg355Ser) c.759G>C (p.Arg253Ser) | gnomAD v4 |
10 | g.123051123G= | CA1941725127 | ACADSB | c.1065G= (p.Arg355=) c.759G= (p.Arg253=) | |
10 | g.123051123G>T | CA378622008 | ACADSB | c.1065G>T (p.Arg355Ser) c.759G>T (p.Arg253Ser) | |
10 | g.123051124C>A | CA378622012 | ACADSB | c.1066C>A (p.Leu356Ile) c.760C>A (p.Leu254Ile) | |
10 | g.123051124C>G | CA378622010 | ACADSB | c.1066C>G (p.Leu356Val) c.760C>G (p.Leu254Val) | |
10 | g.123051124C>T | CA378622011 | ACADSB | c.1066C>T (p.Leu356Phe) c.760C>T (p.Leu254Phe) | gnomAD v4 |
10 | g.123051125T>A | CA378622014 | ACADSB | c.1067T>A (p.Leu356His) c.761T>A (p.Leu254His) | |
10 | g.123051125T>C | CA378622016 | ACADSB | c.1067T>C (p.Leu356Pro) c.761T>C (p.Leu254Pro) | |
10 | g.123051125T>G | CA378622018 | ACADSB | c.1067T>G (p.Leu356Arg) c.761T>G (p.Leu254Arg) | |
10 | g.123051126T>A | CA471760362 | ACADSB | c.1068T>A (p.Leu356=) c.762T>A (p.Leu254=) | |
10 | g.123051126T>C | CA471760363 | ACADSB | c.1068T>C (p.Leu356=) c.762T>C (p.Leu254=) | |
10 | g.123051126T>G | CA471760364 | ACADSB | c.1068T>G (p.Leu356=) c.762T>G (p.Leu254=) | |
10 | g.123051127T>A | CA378622019 | ACADSB | c.1069T>A (p.Leu357Ile) c.763T>A (p.Leu255Ile) | |
10 | g.123051127T>C | CA471760365 | ACADSB | c.1069T>C (p.Leu357=) c.763T>C (p.Leu255=) | |
10 | g.123051127T>G | CA378622021 | ACADSB | c.1069T>G (p.Leu357Val) c.763T>G (p.Leu255Val) | |
10 | g.123051128T>A | CA378622026 | ACADSB | c.1070T>A (p.Leu357Ter) c.764T>A (p.Leu255Ter) | |
10 | g.123051128T>C | CA378622023 | ACADSB | c.1070T>C (p.Leu357Ser) c.764T>C (p.Leu255Ser) | gnomAD v4 |
10 | g.123051128T>G | CA378622024 | ACADSB | c.1070T>G (p.Leu357Ter) c.764T>G (p.Leu255Ter) | |
10 | g.123051129A>C | CA378622028 | ACADSB | c.1071A>C (p.Leu357Phe) c.765A>C (p.Leu255Phe) | |
10 | g.123051129A>G | CA471760366 | ACADSB | c.1071A>G (p.Leu357=) c.765A>G (p.Leu255=) | |
10 | g.123051129A>T | CA378622029 | ACADSB | c.1071A>T (p.Leu357Phe) c.765A>T (p.Leu255Phe) | |
10 | g.123051130G>A | CA378622031 | ACADSB | c.1072G>A (p.Glu358Lys) c.766G>A (p.Glu256Lys) | |
10 | g.123051130G>C | CA378622032 | ACADSB | c.1072G>C (p.Glu358Gln) c.766G>C (p.Glu256Gln) | |
10 | g.123051130G>T | CA378622034 | ACADSB | c.1072G>T (p.Glu358Ter) c.766G>T (p.Glu256Ter) | gnomAD v4 |
10 | g.123051131A>C | CA378622036 | ACADSB | c.1073A>C (p.Glu358Ala) c.767A>C (p.Glu256Ala) | gnomAD v4 |
10 | g.123051131A>G | CA378622037 | ACADSB | c.1073A>G (p.Glu358Gly) c.767A>G (p.Glu256Gly) | |
10 | g.123051131A>T | CA378622039 | ACADSB | c.1073A>T (p.Glu358Val) c.767A>T (p.Glu256Val) | |
10 | g.123051132A>C | CA378622040 | ACADSB | c.1074A>C (p.Glu358Asp) c.768A>C (p.Glu256Asp) | |
10 | g.123051132A>G | CA471760368 | ACADSB | c.1074A>G (p.Glu358=) c.768A>G (p.Glu256=) | |
10 | g.123051132A>T | CA378622042 | ACADSB | c.1074A>T (p.Glu358Asp) c.768A>T (p.Glu256Asp) | |
10 | g.123051133G>A | CA378622044 | ACADSB | c.1075G>A (p.Ala359Thr) c.769G>A (p.Ala257Thr) | |
10 | g.123051133G>C | CA378622045 | ACADSB | c.1075G>C (p.Ala359Pro) c.769G>C (p.Ala257Pro) | |
10 | g.123051133G>T | CA378622046 | ACADSB | c.1075G>T (p.Ala359Ser) c.769G>T (p.Ala257Ser) | |
10 | g.123051134C>A | CA378622049 | ACADSB | c.1076C>A (p.Ala359Asp) c.770C>A (p.Ala257Asp) | |
10 | g.123051134C= | CA1941725131 | ACADSB | c.1076C= (p.Ala359=) c.770C= (p.Ala257=) | |
10 | g.123051134C>G | CA378622047 | ACADSB | c.1076C>G (p.Ala359Gly) c.770C>G (p.Ala257Gly) | |
10 | g.123051134C>T | CA378622048 | ACADSB | c.1076C>T (p.Ala359Val) c.770C>T (p.Ala257Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.123051135T>A | CA471760369 | ACADSB | c.1077T>A (p.Ala359=) c.771T>A (p.Ala257=) | |
10 | g.123051135T>C | CA471760370 | ACADSB | c.1077T>C (p.Ala359=) c.771T>C (p.Ala257=) | |
10 | g.123051135T>G | CA471760371 | ACADSB | c.1077T>G (p.Ala359=) c.771T>G (p.Ala257=) | |
10 | g.123051136G>A | CA378622051 | ACADSB | c.1078G>A (p.Gly360Arg) c.772G>A (p.Gly258Arg) | gnomAD v4 |
10 | g.123051136G>C | CA378622053 | ACADSB | c.1078G>C (p.Gly360Arg) c.772G>C (p.Gly258Arg) | |
10 | g.123051136G>T | CA378622055 | ACADSB | c.1078G>T (p.Gly360Ter) c.772G>T (p.Gly258Ter) | |
10 | g.123051137G>A | CA378622056 | ACADSB | c.1079G>A (p.Gly360Glu) c.773G>A (p.Gly258Glu) | |
10 | g.123051137G>C | CA378622057 | ACADSB | c.1079G>C (p.Gly360Ala) c.773G>C (p.Gly258Ala) | dbSNP |
10 | g.123051137G= | CA1941725138 | ACADSB | c.1079G= (p.Gly360=) c.773G= (p.Gly258=) | |
10 | g.123051137G>T | CA378622059 | ACADSB | c.1079G>T (p.Gly360Val) c.773G>T (p.Gly258Val) | |
10 | g.123051138A>C | CA471760373 | ACADSB | c.1080A>C (p.Gly360=) c.774A>C (p.Gly258=) | |
10 | g.123051138A>G | CA471760374 | ACADSB | c.1080A>G (p.Gly360=) c.774A>G (p.Gly258=) | |
10 | g.123051138A>T | CA471760375 | ACADSB | c.1080A>T (p.Gly360=) c.774A>T (p.Gly258=) | |
10 | g.123051139A>C | CA378622064 | ACADSB | c.1081A>C (p.Lys361Gln) c.775A>C (p.Lys259Gln) | |
10 | g.123051139A>G | CA378622061 | ACADSB | c.1081A>G (p.Lys361Glu) c.775A>G (p.Lys259Glu) | |
10 | g.123051139A>T | CA378622063 | ACADSB | c.1081A>T (p.Lys361Ter) c.775A>T (p.Lys259Ter) | |
10 | g.123051140A>C | CA378622066 | ACADSB | c.1082A>C (p.Lys361Thr) c.776A>C (p.Lys259Thr) | |
10 | g.123051140A>G | CA378622067 | ACADSB | c.1082A>G (p.Lys361Arg) c.776A>G (p.Lys259Arg) | |
10 | g.123051140A>T | CA378622069 | ACADSB | c.1082A>T (p.Lys361Met) c.776A>T (p.Lys259Met) | |
10 | g.123051141G>A | CA471760376 | ACADSB | c.1083G>A (p.Lys361=) c.777G>A (p.Lys259=) | gnomAD v4 |
10 | g.123051141G>C | CA378622070 | ACADSB | c.1083G>C (p.Lys361Asn) c.777G>C (p.Lys259Asn) | |
10 | g.123051141G>T | CA378622072 | ACADSB | c.1083G>T (p.Lys361Asn) c.777G>T (p.Lys259Asn) | |
10 | g.123051142C>A | CA378622074 | ACADSB | c.1084C>A (p.Pro362Thr) c.778C>A (p.Pro260Thr) | |
10 | g.123051142C>G | CA378622076 | ACADSB | c.1084C>G (p.Pro362Ala) c.778C>G (p.Pro260Ala) | |
10 | g.123051142C>T | CA378622075 | ACADSB | c.1084C>T (p.Pro362Ser) c.778C>T (p.Pro260Ser) | |
10 | g.123051143C>A | CA378622078 | ACADSB | c.1085C>A (p.Pro362Gln) c.779C>A (p.Pro260Gln) | gnomAD v4 |
10 | g.123051143C>G | CA378622080 | ACADSB | c.1085C>G (p.Pro362Arg) c.779C>G (p.Pro260Arg) | |
10 | g.123051143C>T | CA378622081 | ACADSB | c.1085C>T (p.Pro362Leu) c.779C>T (p.Pro260Leu) | |
10 | g.123051144A>C | CA471760377 | ACADSB | c.1086A>C (p.Pro362=) c.780A>C (p.Pro260=) | |
10 | g.123051144A>G | CA471760378 | ACADSB | c.1086A>G (p.Pro362=) c.780A>G (p.Pro260=) | |
10 | g.123051144A>T | CA471760379 | ACADSB | c.1086A>T (p.Pro362=) c.780A>T (p.Pro260=) | |
10 | g.123051145T>A | CA378622083 | ACADSB | c.1087T>A (p.Phe363Ile) c.781T>A (p.Phe261Ile) | |
10 | g.123051145T>C | CA378622084 | ACADSB | c.1087T>C (p.Phe363Leu) c.781T>C (p.Phe261Leu) | COSMIC |
10 | g.123051145T>G | CA378622086 | ACADSB | c.1087T>G (p.Phe363Val) c.781T>G (p.Phe261Val) | |
10 | g.123051146T>A | CA378622088 | ACADSB | c.1088T>A (p.Phe363Tyr) c.782T>A (p.Phe261Tyr) | |
10 | g.123051146T>C | CA378622089 | ACADSB | c.1088T>C (p.Phe363Ser) c.782T>C (p.Phe261Ser) | gnomAD v4 |
10 | g.123051146T>G | CA378622091 | ACADSB | c.1088T>G (p.Phe363Cys) c.782T>G (p.Phe261Cys) | |
10 | g.123051147C>A | CA378622093 | ACADSB | c.1089C>A (p.Phe363Leu) c.783C>A (p.Phe261Leu) | gnomAD v3 gnomAD v4 |
10 | g.123051147C= | CA1941711981 | ACADSB | c.1089C= (p.Phe363=) c.783C= (p.Phe261=) | |
10 | g.123051147C>G | CA378622094 | ACADSB | c.1089C>G (p.Phe363Leu) c.783C>G (p.Phe261Leu) | |
10 | g.123051147C>T | CA471760380 | ACADSB | c.1089C>T (p.Phe363=) c.783C>T (p.Phe261=) | dbSNP |
10 | g.123051148A= | CA1941711984 | ACADSB | c.1090A= (p.Ile364=) c.784A= (p.Ile262=) | |
10 | g.123051148A>C | CA5730905 | ACADSB | c.1090A>C (p.Ile364Leu) c.784A>C (p.Ile262Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051148A>G | CA5730906 | ACADSB | c.1090A>G (p.Ile364Val) c.784A>G (p.Ile262Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.123051148A>T | CA378622097 | ACADSB | c.1090A>T (p.Ile364Leu) c.784A>T (p.Ile262Leu) | |
10 | g.123051149T>A | CA378622098 | ACADSB | c.1091T>A (p.Ile364Lys) c.785T>A (p.Ile262Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051149T>C | CA378622100 | ACADSB | c.1091T>C (p.Ile364Thr) c.785T>C (p.Ile262Thr) | |
10 | g.123051149T>G | CA378622099 | ACADSB | c.1091T>G (p.Ile364Arg) c.785T>G (p.Ile262Arg) | |
10 | g.123051149T= | CA1941711987 | ACADSB | c.1091T= (p.Ile364=) c.785T= (p.Ile262=) | |
10 | g.123051150A>C | CA471760381 | ACADSB | c.1092A>C (p.Ile364=) c.786A>C (p.Ile262=) | |
10 | g.123051150A>G | CA378622102 | ACADSB | c.1092A>G (p.Ile364Met) c.786A>G (p.Ile262Met) | |
10 | g.123051150A>T | CA471760382 | ACADSB | c.1092A>T (p.Ile364=) c.786A>T (p.Ile262=) | |
10 | g.123051152_123051153del | CA2611279193 | ACADSB | c.1094_1095del (p.Lys365ArgfsTer19) c.788_789del (p.Lys263ArgfsTer19) | gnomAD v4 |
10 | g.123051151A>C | CA378622106 | ACADSB | c.1093A>C (p.Lys365Gln) c.787A>C (p.Lys263Gln) | |
10 | g.123051151A>G | CA378622103 | ACADSB | c.1093A>G (p.Lys365Glu) c.787A>G (p.Lys263Glu) | |
10 | g.123051151A>T | CA378622105 | ACADSB | c.1093A>T (p.Lys365Ter) c.787A>T (p.Lys263Ter) | |
10 | g.123051152A>C | CA378622108 | ACADSB | c.1094A>C (p.Lys365Thr) c.788A>C (p.Lys263Thr) | |
10 | g.123051152A>G | CA378622109 | ACADSB | c.1094A>G (p.Lys365Arg) c.788A>G (p.Lys263Arg) | |
10 | g.123051152A>T | CA378622111 | ACADSB | c.1094A>T (p.Lys365Ile) c.788A>T (p.Lys263Ile) | |
10 | g.123051153A>C | CA378622112 | ACADSB | c.1095A>C (p.Lys365Asn) c.789A>C (p.Lys263Asn) | |
10 | g.123051153A>G | CA471760383 | ACADSB | c.1095A>G (p.Lys365=) c.789A>G (p.Lys263=) | |
10 | g.123051153A>T | CA378622114 | ACADSB | c.1095A>T (p.Lys365Asn) c.789A>T (p.Lys263Asn) | |
10 | g.123051153_123051154delinsAG | CA1941711989 | ACADSB | c.1095_1096delinsAG (p.Lys365=) c.789_790delinsAG (p.Lys263=) | |
10 | g.123051154del | CA5730907 | ACADSB | c.1096del (p.Glu366LysfsTer27) c.790del (p.Glu264LysfsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.123051154G>A | CA378622115 | ACADSB | c.1096G>A (p.Glu366Lys) c.790G>A (p.Glu264Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051154G>C | CA5730908 | ACADSB | c.1096G>C (p.Glu366Gln) c.790G>C (p.Glu264Gln) | dbSNP ExAC gnomAD v2 |
10 | g.123051154G= | CA1941711990 | ACADSB | c.1096G= (p.Glu366=) c.790G= (p.Glu264=) | |
10 | g.123051154G>T | CA378622116 | ACADSB | c.1096G>T (p.Glu366Ter) c.790G>T (p.Glu264Ter) | gnomAD v3 gnomAD v4 |
10 | g.123051155A>C | CA378622117 | ACADSB | c.1097A>C (p.Glu366Ala) c.791A>C (p.Glu264Ala) | |
10 | g.123051155A>G | CA378622121 | ACADSB | c.1097A>G (p.Glu366Gly) c.791A>G (p.Glu264Gly) | |
10 | g.123051155A>T | CA378622120 | ACADSB | c.1097A>T (p.Glu366Val) c.791A>T (p.Glu264Val) | |
10 | g.123051156A>C | CA378622123 | ACADSB | c.1098A>C (p.Glu366Asp) c.792A>C (p.Glu264Asp) | |
10 | g.123051156A>G | CA471760384 | ACADSB | c.1098A>G (p.Glu366=) c.792A>G (p.Glu264=) | |
10 | g.123051156A>T | CA378622124 | ACADSB | c.1098A>T (p.Glu366Asp) c.792A>T (p.Glu264Asp) | |
10 | g.123051157G>A | CA378622125 | ACADSB | c.1099G>A (p.Ala367Thr) c.793G>A (p.Ala265Thr) | |
10 | g.123051157G>C | CA378622127 | ACADSB | c.1099G>C (p.Ala367Pro) c.793G>C (p.Ala265Pro) | |
10 | g.123051157G>T | CA378622129 | ACADSB | c.1099G>T (p.Ala367Ser) c.793G>T (p.Ala265Ser) | |
10 | g.123051158C>A | CA378622130 | ACADSB | c.1100C>A (p.Ala367Glu) c.794C>A (p.Ala265Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051158C= | CA1941711993 | ACADSB | c.1100C= (p.Ala367=) c.794C= (p.Ala265=) | |
10 | g.123051158C>G | CA378622132 | ACADSB | c.1100C>G (p.Ala367Gly) c.794C>G (p.Ala265Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051158C>T | CA5730909 | ACADSB | c.1100C>T (p.Ala367Val) c.794C>T (p.Ala265Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051159G>A | CA5730910 | ACADSB | c.1101G>A (p.Ala367=) c.795G>A (p.Ala265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051159G>C | CA471760385 | ACADSB | c.1101G>C (p.Ala367=) c.795G>C (p.Ala265=) | |
10 | g.123051159G= | CA1941711997 | ACADSB | c.1101G= (p.Ala367=) c.795G= (p.Ala265=) | |
10 | g.123051159G>T | CA471760386 | ACADSB | c.1101G>T (p.Ala367=) c.795G>T (p.Ala265=) | dbSNP |
10 | g.123051160T>A | CA378622135 | ACADSB | c.1102T>A (p.Ser368Thr) c.796T>A (p.Ser266Thr) | |
10 | g.123051160T>C | CA5730911 | ACADSB | c.1102T>C (p.Ser368Pro) c.796T>C (p.Ser266Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051160T>G | CA378622134 | ACADSB | c.1102T>G (p.Ser368Ala) c.796T>G (p.Ser266Ala) | |
10 | g.123051160T= | CA1941712000 | ACADSB | c.1102T= (p.Ser368=) c.796T= (p.Ser266=) | |
10 | g.123051161C>A | CA378622137 | ACADSB | c.1103C>A (p.Ser368Ter) c.797C>A (p.Ser266Ter) | gnomAD v3 gnomAD v4 |
10 | g.123051161C>G | CA378622138 | ACADSB | c.1103C>G (p.Ser368Ter) c.797C>G (p.Ser266Ter) | |
10 | g.123051161C>T | CA378622140 | ACADSB | c.1103C>T (p.Ser368Leu) c.797C>T (p.Ser266Leu) | gnomAD v4 |
10 | g.123051162A= | CA1941712002 | ACADSB | c.1104A= (p.Ser368=) c.798A= (p.Ser266=) | |
10 | g.123051162A>C | CA471760387 | ACADSB | c.1104A>C (p.Ser368=) c.798A>C (p.Ser266=) | |
10 | g.123051162A>G | CA215170607 | ACADSB | c.1104A>G (p.Ser368=) c.798A>G (p.Ser266=) | dbSNP gnomAD v4 |
10 | g.123051162A>T | CA471760388 | ACADSB | c.1104A>T (p.Ser368=) c.798A>T (p.Ser266=) | |
10 | g.123051163A= | CA1941712004 | ACADSB | c.1105A= (p.Met369=) c.799A= (p.Met267=) | |
10 | g.123051163A>C | CA378622146 | ACADSB | c.1105A>C (p.Met369Leu) c.799A>C (p.Met267Leu) | |
10 | g.123051163A>G | CA378622144 | ACADSB | c.1105A>G (p.Met369Val) c.799A>G (p.Met267Val) | |
10 | g.123051163A>T | CA378622142 | ACADSB | c.1105A>T (p.Met369Leu) c.799A>T (p.Met267Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.123051164T>A | CA378622147 | ACADSB | c.1106T>A (p.Met369Lys) c.800T>A (p.Met267Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051164T>C | CA378622148 | ACADSB | c.1106T>C (p.Met369Thr) c.800T>C (p.Met267Thr) | |
10 | g.123051164T>G | CA378622150 | ACADSB | c.1106T>G (p.Met369Arg) c.800T>G (p.Met267Arg) | |
10 | g.123051164T= | CA1941712006 | ACADSB | c.1106T= (p.Met369=) c.800T= (p.Met267=) | |
10 | g.123051165G>A | CA378622151 | ACADSB | c.1107G>A (p.Met369Ile) c.801G>A (p.Met267Ile) | |
10 | g.123051165G>C | CA378622152 | ACADSB | c.1107G>C (p.Met369Ile) c.801G>C (p.Met267Ile) | |
10 | g.123051165G>T | CA378622154 | ACADSB | c.1107G>T (p.Met369Ile) c.801G>T (p.Met267Ile) | |
10 | g.123051166G>A | CA378622155 | ACADSB | c.1108G>A (p.Ala370Thr) c.802G>A (p.Ala268Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.123051166G>C | CA378622158 | ACADSB | c.1108G>C (p.Ala370Pro) c.802G>C (p.Ala268Pro) | |
10 | g.123051166G= | CA1941712007 | ACADSB | c.1108G= (p.Ala370=) c.802G= (p.Ala268=) | |
10 | g.123051166G>T | CA378622156 | ACADSB | c.1108G>T (p.Ala370Ser) c.802G>T (p.Ala268Ser) | |
10 | g.123051167C>A | CA378622160 | ACADSB | c.1109C>A (p.Ala370Asp) c.803C>A (p.Ala268Asp) | gnomAD v3 gnomAD v4 |
10 | g.123051167C= | CA1941712009 | ACADSB | c.1109C= (p.Ala370=) c.803C= (p.Ala268=) | |
10 | g.123051167C>G | CA215170626 | ACADSB | c.1109C>G (p.Ala370Gly) c.803C>G (p.Ala268Gly) | dbSNP |
10 | g.123051167C>T | CA378622162 | ACADSB | c.1109C>T (p.Ala370Val) c.803C>T (p.Ala268Val) | |
10 | g.123051168C>A | CA471760391 | ACADSB | c.1110C>A (p.Ala370=) c.804C>A (p.Ala268=) | gnomAD v3 gnomAD v4 |
10 | g.123051168C>G | CA471760390 | ACADSB | c.1110C>G (p.Ala370=) c.804C>G (p.Ala268=) | |
10 | g.123051168C>T | CA471760389 | ACADSB | c.1110C>T (p.Ala370=) c.804C>T (p.Ala268=) | |
10 | g.123051169A>C | CA378622164 | ACADSB | c.1111A>C (p.Lys371Gln) c.805A>C (p.Lys269Gln) | |
10 | g.123051169A>G | CA378622165 | ACADSB | c.1111A>G (p.Lys371Glu) c.805A>G (p.Lys269Glu) | |
10 | g.123051169A>T | CA378622167 | ACADSB | c.1111A>T (p.Lys371Ter) c.805A>T (p.Lys269Ter) | |
10 | g.123051170A>C | CA378622168 | ACADSB | c.1112A>C (p.Lys371Thr) c.806A>C (p.Lys269Thr) | |
10 | g.123051170A>G | CA378622170 | ACADSB | c.1112A>G (p.Lys371Arg) c.806A>G (p.Lys269Arg) | |
10 | g.123051170A>T | CA378622172 | ACADSB | c.1112A>T (p.Lys371Ile) c.806A>T (p.Lys269Ile) | |
10 | g.123051171A>C | CA378622174 | ACADSB | c.1113A>C (p.Lys371Asn) c.807A>C (p.Lys269Asn) | gnomAD v4 |
10 | g.123051171A>G | CA471760392 | ACADSB | c.1113A>G (p.Lys371=) c.807A>G (p.Lys269=) | |
10 | g.123051171A>T | CA378622175 | ACADSB | c.1113A>T (p.Lys371Asn) c.807A>T (p.Lys269Asn) | |
10 | g.123051172T>A | CA378622178 | ACADSB | c.1114T>A (p.Tyr372Asn) c.808T>A (p.Tyr270Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051172T>C | CA378622179 | ACADSB | c.1114T>C (p.Tyr372His) c.808T>C (p.Tyr270His) | dbSNP |
10 | g.123051172T>G | CA378622176 | ACADSB | c.1114T>G (p.Tyr372Asp) c.808T>G (p.Tyr270Asp) | |
10 | g.123051172T= | CA1941712011 | ACADSB | c.1114T= (p.Tyr372=) c.808T= (p.Tyr270=) | |
10 | g.123051173A>C | CA378622181 | ACADSB | c.1115A>C (p.Tyr372Ser) c.809A>C (p.Tyr270Ser) | |
10 | g.123051173A>G | CA378622182 | ACADSB | c.1115A>G (p.Tyr372Cys) c.809A>G (p.Tyr270Cys) | |
10 | g.123051173A>T | CA378622183 | ACADSB | c.1115A>T (p.Tyr372Phe) c.809A>T (p.Tyr270Phe) | |
10 | g.123051174C>A | CA5730912 | ACADSB | c.1116C>A (p.Tyr372Ter) c.810C>A (p.Tyr270Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051174C= | CA1941712013 | ACADSB | c.1116C= (p.Tyr372=) c.810C= (p.Tyr270=) | |
10 | g.123051174C>G | CA378622185 | ACADSB | c.1116C>G (p.Tyr372Ter) c.810C>G (p.Tyr270Ter) | |
10 | g.123051174C>T | CA5730913 | ACADSB | c.1116C>T (p.Tyr372=) c.810C>T (p.Tyr270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.123051175del | CA2789793240 | ACADSB | c.1117del (p.Tyr373MetfsTer20) c.811del (p.Tyr271MetfsTer20) | |
10 | g.123051175T>A | CA378622189 | ACADSB | c.1117T>A (p.Tyr373Asn) c.811T>A (p.Tyr271Asn) | gnomAD v4 |
10 | g.123051175T>C | CA378622187 | ACADSB | c.1117T>C (p.Tyr373His) c.811T>C (p.Tyr271His) | gnomAD v4 |
10 | g.123051175T>G | CA378622188 | ACADSB | c.1117T>G (p.Tyr373Asp) c.811T>G (p.Tyr271Asp) | |
10 | g.123051176A= | CA1941712015 | ACADSB | c.1118A= (p.Tyr373=) c.812A= (p.Tyr271=) | |
10 | g.123051176A>C | CA378622191 | ACADSB | c.1118A>C (p.Tyr373Ser) c.812A>C (p.Tyr271Ser) | |
10 | g.123051176A>G | CA378622193 | ACADSB | c.1118A>G (p.Tyr373Cys) c.812A>G (p.Tyr271Cys) | dbSNP gnomAD v4 |
10 | g.123051176A>T | CA378622194 | ACADSB | c.1118A>T (p.Tyr373Phe) c.812A>T (p.Tyr271Phe) | |
10 | g.123051177T>A | CA378622196 | ACADSB | c.1119T>A (p.Tyr373Ter) c.813T>A (p.Tyr271Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051177T>C | CA471760393 | ACADSB | c.1119T>C (p.Tyr373=) c.813T>C (p.Tyr271=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051177T>G | CA378622197 | ACADSB | c.1119T>G (p.Tyr373Ter) c.813T>G (p.Tyr271Ter) | |
10 | g.123051177T= | CA1941712017 | ACADSB | c.1119T= (p.Tyr373=) c.813T= (p.Tyr271=) | |
10 | g.123051178G>A | CA215170670 | ACADSB | c.1120G>A (p.Ala374Thr) c.814G>A (p.Ala272Thr) | dbSNP gnomAD v4 |
10 | g.123051178G>C | CA378622202 | ACADSB | c.1120G>C (p.Ala374Pro) c.814G>C (p.Ala272Pro) | dbSNP gnomAD v4 |
10 | g.123051178G= | CA1941712019 | ACADSB | c.1120G= (p.Ala374=) c.814G= (p.Ala272=) | |
10 | g.123051178G>T | CA378622200 | ACADSB | c.1120G>T (p.Ala374Ser) c.814G>T (p.Ala272Ser) | gnomAD v4 |
10 | g.123051179C>A | CA378622203 | ACADSB | c.1121C>A (p.Ala374Glu) c.815C>A (p.Ala272Glu) | gnomAD v4 |
10 | g.123051179C>G | CA378622204 | ACADSB | c.1121C>G (p.Ala374Gly) c.815C>G (p.Ala272Gly) | |
10 | g.123051179C>T | CA378622206 | ACADSB | c.1121C>T (p.Ala374Val) c.815C>T (p.Ala272Val) | |
10 | g.123051180A>C | CA471760394 | ACADSB | c.1122A>C (p.Ala374=) c.816A>C (p.Ala272=) | |
10 | g.123051180A>G | CA471760395 | ACADSB | c.1122A>G (p.Ala374=) c.816A>G (p.Ala272=) | |
10 | g.123051180A>T | CA471760396 | ACADSB | c.1122A>T (p.Ala374=) c.816A>T (p.Ala272=) | |
10 | g.123051181T>A | CA378622207 | ACADSB | c.1123T>A (p.Ser375Thr) c.817T>A (p.Ser273Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051181T>C | CA378622208 | ACADSB | c.1123T>C (p.Ser375Pro) c.817T>C (p.Ser273Pro) | gnomAD v4 |
10 | g.123051181T>G | CA378622210 | ACADSB | c.1123T>G (p.Ser375Ala) c.817T>G (p.Ser273Ala) | |
10 | g.123051182C>A | CA378622211 | ACADSB | c.1124C>A (p.Ser375Ter) c.818C>A (p.Ser273Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051182C>G | CA378622213 | ACADSB | c.1124C>G (p.Ser375Ter) c.818C>G (p.Ser273Ter) | |
10 | g.123051182C>T | CA378622214 | ACADSB | c.1124C>T (p.Ser375Leu) c.818C>T (p.Ser273Leu) | |
10 | g.123051183A>C | CA471760399 | ACADSB | c.1125A>C (p.Ser375=) c.819A>C (p.Ser273=) | gnomAD v4 |
10 | g.123051183A>G | CA471760398 | ACADSB | c.1125A>G (p.Ser375=) c.819A>G (p.Ser273=) | |
10 | g.123051183A>T | CA471760397 | ACADSB | c.1125A>T (p.Ser375=) c.819A>T (p.Ser273=) | |
10 | g.123051184G>A | CA5730914 | ACADSB | c.1126G>A (p.Glu376Lys) c.820G>A (p.Glu274Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051184G>C | CA378622216 | ACADSB | c.1126G>C (p.Glu376Gln) c.820G>C (p.Glu274Gln) | gnomAD v4 |
10 | g.123051184G= | CA1941712021 | ACADSB | c.1126G= (p.Glu376=) c.820G= (p.Glu274=) | |
10 | g.123051184G>T | CA378622217 | ACADSB | c.1126G>T (p.Glu376Ter) c.820G>T (p.Glu274Ter) | gnomAD v3 gnomAD v4 |
10 | g.123051185A= | CA1941712023 | ACADSB | c.1127A= (p.Glu376=) c.821A= (p.Glu274=) | |
10 | g.123051185A>C | CA378622218 | ACADSB | c.1127A>C (p.Glu376Ala) c.821A>C (p.Glu274Ala) | gnomAD v4 |
10 | g.123051185A>G | CA215170684 | ACADSB | c.1127A>G (p.Glu376Gly) c.821A>G (p.Glu274Gly) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051185A>T | CA378622219 | ACADSB | c.1127A>T (p.Glu376Val) c.821A>T (p.Glu274Val) | gnomAD v3 gnomAD v4 |
10 | g.123051186G>A | CA471760400 | ACADSB | c.1128G>A (p.Glu376=) c.822G>A (p.Glu274=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051186G>C | CA378622221 | ACADSB | c.1128G>C (p.Glu376Asp) c.822G>C (p.Glu274Asp) | |
10 | g.123051186G= | CA1941712026 | ACADSB | c.1128G= (p.Glu376=) c.822G= (p.Glu274=) | |
10 | g.123051186G>T | CA378622223 | ACADSB | c.1128G>T (p.Glu376Asp) c.822G>T (p.Glu274Asp) | gnomAD v3 gnomAD v4 |
10 | g.123051187dup | CA933366714 | ACADSB | c.1128+1dup c.822+1dup | gnomAD v3 gnomAD v4 |
10 | g.123051187del | CA2611279194 | ACADSB | c.1128+1del c.822+1del | gnomAD v4 |
10 | g.123051186_123051188del | CA933366727 | ACADSB | c.1128_1128+2del c.822_822+2del | gnomAD v3 gnomAD v4 |
10 | g.123051186_123051189delinsGGTA | CA1941712025 | ACADSB | c.1128_1128+3delinsGGTA c.822_822+3delinsGGTA | |
10 | g.123051187G>A | CA378622224 | ACADSB | c.1128+1G>A (n.1128+1G>A) c.822+1G>A (n.822+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051187G>C | CA378622226 | ACADSB | c.1128+1G>C (n.1128+1G>C) c.822+1G>C (n.822+1G>C) | |
10 | g.123051187G= | CA1941712031 | ACADSB | c.1128+1G= (n.1128+1G=) c.822+1G= (n.822+1G=) | |
10 | g.123051187G>T | CA378622227 | ACADSB | c.1128+1G>T (n.1128+1G>T) c.822+1G>T (n.822+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051187_123051188del | CA2611279195 | ACADSB | c.1128+1_1128+2del (n.1128+1_1128+2del) c.822+1_822+2del (n.822+1_822+2del) | gnomAD v4 |
10 | g.123051187_123051188delinsGT | CA1941712028 | ACADSB | c.1128+1_1128+2delinsGT (n.1128+1_1128+2delinsGT) c.822+1_822+2delinsGT (n.822+1_822+2delinsGT) | |
10 | g.123051187_123051189del | CA660966332 | ACADSB | c.1128+1_1128+3del (n.1128+1_1128+3del) c.822+1_822+3del (n.822+1_822+3del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051187_123051189delinsGTA | CA1941712033 | ACADSB | c.1128+1_1128+3delinsGTA (n.1128+1_1128+3delinsGTA) c.822+1_822+3delinsGTA (n.822+1_822+3delinsGTA) | |
10 | g.123051187_123051190del | CA2611279196 | ACADSB | c.1128+1_1128+4del (n.1128+1_1128+4del) c.822+1_822+4del (n.822+1_822+4del) | gnomAD v4 |
10 | g.123051187_123051190delinsGTAA | CA1941712032 | ACADSB | c.1128+1_1128+4delinsGTAA (n.1128+1_1128+4delinsGTAA) c.822+1_822+4delinsGTAA (n.822+1_822+4delinsGTAA) | |
10 | g.123051187_123051191del | CA2611279197 | ACADSB | c.1128+1_1128+5del (n.1128+1_1128+5del) c.822+1_822+5del (n.822+1_822+5del) | gnomAD v4 |
10 | g.123051187_123051192delinsGTAAAA | CA1941712029 | ACADSB | c.1128+1_1128+6delinsGTAAAA (n.1128+1_1128+6delinsGTAAAA) c.822+1_822+6delinsGTAAAA (n.822+1_822+6delinsGTAAAA) | |
10 | g.123051187_123051188insA | CA1941712043 | ACADSB | c.1128+1_1128+2insA (n.1128+1_1128+2insA) c.822+1_822+2insA (n.822+1_822+2insA) | dbSNP gnomAD v4 |
10 | g.123051187_123051188insAA | CA933366742 | ACADSB | c.1128+1_1128+2insAA (n.1128+1_1128+2insAA) c.822+1_822+2insAA (n.822+1_822+2insAA) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051187_123051188insGA | CA2789793242 | ACADSB | c.1128+1_1128+2insGA (n.1128+1_1128+2insGA) c.822+1_822+2insGA (n.822+1_822+2insGA) | |
10 | g.123051187_123051188insAAA | CA2558276657 | ACADSB | c.1128+1_1128+2insAAA (n.1128+1_1128+2insAAA) c.822+1_822+2insAAA (n.822+1_822+2insAAA) | |
10 | g.123051188del | CA1941712042 | ACADSB | c.1128+2del (n.1128+2del) c.822+2del (n.822+2del) | dbSNP gnomAD v4 |
10 | g.123051188T>A | CA378622229 | ACADSB | c.1128+2T>A (n.1128+2T>A) c.822+2T>A (n.822+2T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051188T>C | CA378622230 | ACADSB | c.1128+2T>C (n.1128+2T>C) c.822+2T>C (n.822+2T>C) | |
10 | g.123051188T>G | CA378622232 | ACADSB | c.1128+2T>G (n.1128+2T>G) c.822+2T>G (n.822+2T>G) | gnomAD v3 gnomAD v4 |
10 | g.123051188T= | CA1941712039 | ACADSB | c.1128+2T= (n.1128+2T=) c.822+2T= (n.822+2T=) | |
10 | g.123051188dup | CA5730915 | ACADSB | c.1128+2dup (n.1128+2dup) c.822+2dup (n.822+2dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051188_123051189del | CA660966341 | ACADSB | c.1128+2_1128+3del (n.1128+2_1128+3del) c.822+2_822+3del (n.822+2_822+3del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051188_123051190del | CA913189739 | ACADSB | c.1128+2_1128+4del (n.1128+2_1128+4del) c.822+2_822+4del (n.822+2_822+4del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051188_123051191del | CA2611279198 | ACADSB | c.1128+2_1128+5del (n.1128+2_1128+5del) c.822+2_822+5del (n.822+2_822+5del) | gnomAD v4 |
10 | g.123051188_123051192del | CA1941712040 | ACADSB | c.1128+2_1128+6del (n.1128+2_1128+6del) c.822+2_822+6del (n.822+2_822+6del) | dbSNP |
10 | g.123051188_123051206delinsTAAAAAAAAAAAAAAAAAA | CA1941712038 | ACADSB | c.1128+2_1128+20delinsTAAAAAAAAAAAAAAAAAA (n.1128+2_1128+20delinsTAAAAAAAAAAAAAAAAAA) c.822+2_822+20delinsTAAAAAAAAAAAAAAAAAA (n.822+2_822+20delinsTAAAAAAAAAAAAAAAAAA) | |
10 | g.123051211_123051212insGAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA | CA2789793241 | ACADSB | c.1128+25_1128+26insGAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051212_123051213insAAAAAAAAGAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279199 | ACADSB | c.1128+26_1128+27insAAAAAAAAGAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAGAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAGAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAGAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051188_123051189insCA | CA2574697343 | ACADSB | c.1128+2_1128+3insCA (n.1128+2_1128+3insCA) c.822+2_822+3insCA (n.822+2_822+3insCA) | |
10 | g.123051188_123051189insGA | CA2611279230 | ACADSB | c.1128+2_1128+3insGA (n.1128+2_1128+3insGA) c.822+2_822+3insGA (n.822+2_822+3insGA) | gnomAD v4 |
10 | g.123051188_123051189insTA | CA658658019 | ACADSB | c.1128+2_1128+3insTA (n.1128+2_1128+3insTA) c.822+2_822+3insTA (n.822+2_822+3insTA) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051188_123051189insTAA | CA2789793244 | ACADSB | c.1128+2_1128+3insTAA (n.1128+2_1128+3insTAA) c.822+2_822+3insTAA (n.822+2_822+3insTAA) | |
10 | g.123051189A= | CA1941712071 | ACADSB | c.1128+3A= (n.1128+3A=) c.822+3A= (n.822+3A=) | |
10 | g.123051189A>C | CA1139769859 | ACADSB | c.1128+3A>C (n.1128+3A>C) c.822+3A>C (n.822+3A>C) | gnomAD v4 |
10 | g.123051189A>G | CA5730922 | ACADSB | c.1128+3A>G (n.1128+3A>G) c.822+3A>G (n.822+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051189A>T | CA5730923 | ACADSB | c.1128+3A>T (n.1128+3A>T) c.822+3A>T (n.822+3A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123051196_123051197insGAAAAAAAAA | CA2611279231 | ACADSB | c.1128+10_1128+11insGAAAAAAAAA (n.1128+10_1128+11insGAAAAAAAAA) c.822+10_822+11insGAAAAAAAAA (n.822+10_822+11insGAAAAAAAAA) | gnomAD v4 |
10 | g.123051207_123051208insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793243 | ACADSB | c.1128+21_1128+22insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+21_1128+22insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+21_822+22insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+21_822+22insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051208_123051209insGAAAAAAAAAAAAAAAAAAAAAA | CA2611279233 | ACADSB | c.1128+22_1128+23insGAAAAAAAAAAAAAAAAAAAAAA (n.1128+22_1128+23insGAAAAAAAAAAAAAAAAAAAAAA) c.822+22_822+23insGAAAAAAAAAAAAAAAAAAAAAA (n.822+22_822+23insGAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051208_123051209insGAAAAAAATAATTAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA | CA2611279232 | ACADSB | c.1128+22_1128+23insGAAAAAAATAATTAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA (n.1128+22_1128+23insGAAAAAAATAATTAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA) c.822+22_822+23insGAAAAAAATAATTAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA (n.822+22_822+23insGAAAAAAATAATTAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051209_123051210insGAAAAAAAAAAAAAAAAAAAAAA | CA2611279236 | ACADSB | c.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAA (n.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAA) c.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAA (n.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051209_123051210insGAAAAAAAAAAAAAAAAAAAAAAA | CA2611279235 | ACADSB | c.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAAA) c.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAAA (n.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051209_123051210insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793245 | ACADSB | c.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+23_1128+24insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+23_822+24insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051209_123051210insGAAAAAAAAGACAAAAAATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279234 | ACADSB | c.1128+23_1128+24insGAAAAAAAAGACAAAAAATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+23_1128+24insGAAAAAAAAGACAAAAAATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+23_822+24insGAAAAAAAAGACAAAAAATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+23_822+24insGAAAAAAAAGACAAAAAATAAACAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAA | CA912966620 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v4 |
10 | g.123051210_123051211insTAAAAAAAAAAAAAAAAAAAAAAA | CA2611279229 | ACADSB | c.1128+24_1128+25insTAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insTAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insTAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insTAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279209 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793247 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279210 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366811 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAATAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAA | CA2611279212 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAATAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAATAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAATAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAATAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA | CA2611279211 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051210_123051211insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793246 | ACADSB | c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051210_123051211insGAAAAAAAATAAAAAACAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279201 | ACADSB | c.1128+24_1128+25insGAAAAAAAATAAAAAACAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+24_1128+25insGAAAAAAAATAAAAAACAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+24_822+25insGAAAAAAAATAAAAAACAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+24_822+25insGAAAAAAAATAAAAAACAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAA | CA2611279215 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279214 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366814 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279200 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279202 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279203 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA | CA2611279206 | ACADSB | c.1128+25_1128+26insGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279207 | ACADSB | c.1128+25_1128+26insGAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAGGGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279208 | ACADSB | c.1128+25_1128+26insGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366813 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279205 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366812 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051211_123051212insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279204 | ACADSB | c.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+25_1128+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+25_822+26insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279241 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279240 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279249 | ACADSB | c.1128+26_1128+27insAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279246 | ACADSB | c.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366927 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279247 | ACADSB | c.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366930 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366935 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279255 | ACADSB | c.1128+26_1128+27insAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279251 | ACADSB | c.1128+26_1128+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279254 | ACADSB | c.1128+26_1128+27insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279213 | ACADSB | c.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279239 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279258 | ACADSB | c.1128+26_1128+27insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279257 | ACADSB | c.1128+26_1128+27insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366937 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279274 | ACADSB | c.1128+26_1128+27insAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279260 | ACADSB | c.1128+26_1128+27insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279225 | ACADSB | c.1128+26_1128+27insAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279224 | ACADSB | c.1128+26_1128+27insAGAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279273 | ACADSB | c.1128+26_1128+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793248 | ACADSB | c.1128+26_1128+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051212_123051213insAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279267 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279268 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279238 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279266 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366942 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279261 | ACADSB | c.1128+26_1128+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAACAAAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279253 | ACADSB | c.1128+26_1128+27insAAACAAAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAACAAAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAACAAAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAACAAAGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAACAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279252 | ACADSB | c.1128+26_1128+27insAAACAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAACAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAACAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAACAATAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279262 | ACADSB | c.1128+26_1128+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAACAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279237 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279272 | ACADSB | c.1128+26_1128+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366945 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279264 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279265 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAATAAGCAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366828 | ACADSB | c.1128+26_1128+27insAAAATAAGCAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAATAAGCAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAATAAGCAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAATAAGCAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279256 | ACADSB | c.1128+26_1128+27insAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAATAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279270 | ACADSB | c.1128+26_1128+27insAAAAAAAAAATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366946 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279271 | ACADSB | c.1128+26_1128+27insAAAAAAAACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279263 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279226 | ACADSB | c.1128+26_1128+27insAGAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAATAAAAATAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279259 | ACADSB | c.1128+26_1128+27insAAAAAAAATAAAAATAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAATAAAAATAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAATAAAAATAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAATAAAAATAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAATACATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279269 | ACADSB | c.1128+26_1128+27insAAAAAAAAAATACATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAATACATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAATACATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAATACATAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366874 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366818 | ACADSB | c.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279248 | ACADSB | c.1128+26_1128+27insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAGAAAAAAAAAAAGAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAA | CA2611279250 | ACADSB | c.1128+26_1128+27insAAAGAAAAAAAAAAAGAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAGAAAAAAAAAAAGAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAGAAAAAAAAAAAGAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAGAAAAAAAAAAAGAAAAAGAGGAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2789793249 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366808 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2589178102 | ACADSB | c.1128+26_1128+27insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212_123051213insAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA933366831 | ACADSB | c.1128+26_1128+27insAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1128+26_1128+27insAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.822+26_822+27insAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.822+26_822+27insAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
10 | g.123051212dup | CA5730919 | ACADSB | c.1128+26dup (n.1128+26dup) c.822+26dup (n.822+26dup) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051211_123051212dup | CA471760407 | ACADSB | c.1128+25_1128+26dup (n.1128+25_1128+26dup) c.822+25_822+26dup (n.822+25_822+26dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051210_123051212dup | CA660966392 | ACADSB | c.1128+24_1128+26dup (n.1128+24_1128+26dup) c.822+24_822+26dup (n.822+24_822+26dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051209_123051212dup | CA660966390 | ACADSB | c.1128+23_1128+26dup (n.1128+23_1128+26dup) c.822+23_822+26dup (n.822+23_822+26dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051208_123051212dup | CA933366880 | ACADSB | c.1128+22_1128+26dup (n.1128+22_1128+26dup) c.822+22_822+26dup (n.822+22_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051207_123051212dup | CA915948753 | ACADSB | c.1128+21_1128+26dup (n.1128+21_1128+26dup) c.822+21_822+26dup (n.822+21_822+26dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051206_123051212dup | CA915948754 | ACADSB | c.1128+20_1128+26dup (n.1128+20_1128+26dup) c.822+20_822+26dup (n.822+20_822+26dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051205_123051212dup | CA933366884 | ACADSB | c.1128+19_1128+26dup (n.1128+19_1128+26dup) c.822+19_822+26dup (n.822+19_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051204_123051212dup | CA933366886 | ACADSB | c.1128+18_1128+26dup (n.1128+18_1128+26dup) c.822+18_822+26dup (n.822+18_822+26dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051203_123051212dup | CA933366891 | ACADSB | c.1128+17_1128+26dup (n.1128+17_1128+26dup) c.822+17_822+26dup (n.822+17_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051202_123051212dup | CA912966621 | ACADSB | c.1128+16_1128+26dup (n.1128+16_1128+26dup) c.822+16_822+26dup (n.822+16_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051201_123051212dup | CA933366900 | ACADSB | c.1128+15_1128+26dup (n.1128+15_1128+26dup) c.822+15_822+26dup (n.822+15_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051200_123051212dup | CA933366872 | ACADSB | c.1128+14_1128+26dup (n.1128+14_1128+26dup) c.822+14_822+26dup (n.822+14_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051199_123051212dup | CA933366902 | ACADSB | c.1128+13_1128+26dup (n.1128+13_1128+26dup) c.822+13_822+26dup (n.822+13_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051198_123051212dup | CA933366906 | ACADSB | c.1128+12_1128+26dup (n.1128+12_1128+26dup) c.822+12_822+26dup (n.822+12_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051197_123051212dup | CA2611279245 | ACADSB | c.1128+11_1128+26dup (n.1128+11_1128+26dup) c.822+11_822+26dup (n.822+11_822+26dup) | gnomAD v4 |
10 | g.123051196_123051212dup | CA2611279244 | ACADSB | c.1128+10_1128+26dup (n.1128+10_1128+26dup) c.822+10_822+26dup (n.822+10_822+26dup) | gnomAD v4 |
10 | g.123051195_123051212dup | CA2611279243 | ACADSB | c.1128+9_1128+26dup (n.1128+9_1128+26dup) c.822+9_822+26dup (n.822+9_822+26dup) | gnomAD v4 |
10 | g.123051194_123051212dup | CA2789793250 | ACADSB | c.1128+8_1128+26dup (n.1128+8_1128+26dup) c.822+8_822+26dup (n.822+8_822+26dup) | |
10 | g.123051193_123051212dup | CA2611279242 | ACADSB | c.1128+7_1128+26dup (n.1128+7_1128+26dup) c.822+7_822+26dup (n.822+7_822+26dup) | gnomAD v4 |
10 | g.123051192_123051212dup | CA933366908 | ACADSB | c.1128+6_1128+26dup (n.1128+6_1128+26dup) c.822+6_822+26dup (n.822+6_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051191_123051212dup | CA933366913 | ACADSB | c.1128+5_1128+26dup (n.1128+5_1128+26dup) c.822+5_822+26dup (n.822+5_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051190_123051212dup | CA933366916 | ACADSB | c.1128+4_1128+26dup (n.1128+4_1128+26dup) c.822+4_822+26dup (n.822+4_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051189_123051212dup | CA933366917 | ACADSB | c.1128+3_1128+26dup (n.1128+3_1128+26dup) c.822+3_822+26dup (n.822+3_822+26dup) | gnomAD v3 gnomAD v4 |
10 | g.123051212del | CA660966362 | ACADSB | c.1128+26del (n.1128+26del) c.822+26del (n.822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051211_123051212del | CA215170715 | ACADSB | c.1128+25_1128+26del (n.1128+25_1128+26del) c.822+25_822+26del (n.822+25_822+26del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051210_123051212del | CA5730917 | ACADSB | c.1128+24_1128+26del (n.1128+24_1128+26del) c.822+24_822+26del (n.822+24_822+26del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051209_123051212del | CA215170727 | ACADSB | c.1128+23_1128+26del (n.1128+23_1128+26del) c.822+23_822+26del (n.822+23_822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051208_123051212del | CA215170718 | ACADSB | c.1128+22_1128+26del (n.1128+22_1128+26del) c.822+22_822+26del (n.822+22_822+26del) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.123051207_123051212del | CA5730916 | ACADSB | c.1128+21_1128+26del (n.1128+21_1128+26del) c.822+21_822+26del (n.822+21_822+26del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051206_123051212del | CA5730918 | ACADSB | c.1128+20_1128+26del (n.1128+20_1128+26del) c.822+20_822+26del (n.822+20_822+26del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051205_123051212del | CA5730921 | ACADSB | c.1128+19_1128+26del (n.1128+19_1128+26del) c.822+19_822+26del (n.822+19_822+26del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051204_123051212del | CA5730920 | ACADSB | c.1128+18_1128+26del (n.1128+18_1128+26del) c.822+18_822+26del (n.822+18_822+26del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.123051203_123051212del | CA933366851 | ACADSB | c.1128+17_1128+26del (n.1128+17_1128+26del) c.822+17_822+26del (n.822+17_822+26del) | gnomAD v3 gnomAD v4 |
10 | g.123051202_123051212del | CA2525527877 | ACADSB | c.1128+16_1128+26del (n.1128+16_1128+26del) c.822+16_822+26del (n.822+16_822+26del) | dbSNP gnomAD v4 |
10 | g.123051201_123051212del | CA660966373 | ACADSB | c.1128+15_1128+26del (n.1128+15_1128+26del) c.822+15_822+26del (n.822+15_822+26del) | dbSNP gnomAD v4 |
10 | g.123051200_123051212del | CA660966372 | ACADSB | c.1128+14_1128+26del (n.1128+14_1128+26del) c.822+14_822+26del (n.822+14_822+26del) | dbSNP gnomAD v4 |
10 | g.123051199_123051212del | CA933366856 | ACADSB | c.1128+13_1128+26del (n.1128+13_1128+26del) c.822+13_822+26del (n.822+13_822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051198_123051212del | CA660966370 | ACADSB | c.1128+12_1128+26del (n.1128+12_1128+26del) c.822+12_822+26del (n.822+12_822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051197_123051212del | CA660966369 | ACADSB | c.1128+11_1128+26del (n.1128+11_1128+26del) c.822+11_822+26del (n.822+11_822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051195_123051212del | CA933366866 | ACADSB | c.1128+9_1128+26del (n.1128+9_1128+26del) c.822+9_822+26del (n.822+9_822+26del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123051193_123051212del | CA2611279228 | ACADSB | c.1128+7_1128+26del (n.1128+7_1128+26del) c.822+7_822+26del (n.822+7_822+26del) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAAAAAAAAAAAAAAAAAG | CA933366816 | ACADSB | c.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v3 gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279222 | ACADSB | c.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279221 | ACADSB | c.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279220 | ACADSB | c.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279227 | ACADSB | c.1128+27_1128+28insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279217 | ACADSB | c.1128+27_1128+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279216 | ACADSB | c.1128+27_1128+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAATAAAACAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279218 | ACADSB | c.1128+27_1128+28insAAAAAAAAAATAAAACAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAATAAAACAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAATAAAACAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAATAAAACAGAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051213_123051214insAAAAAAAAAAAAAAAAAAACAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAG | CA2611279219 | ACADSB | c.1128+27_1128+28insAAAAAAAAAAAAAAAAAAACAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAG (n.1128+27_1128+28insAAAAAAAAAAAAAAAAAAACAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAG) c.822+27_822+28insAAAAAAAAAAAAAAAAAAACAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAG (n.822+27_822+28insAAAAAAAAAAAAAAAAAAACAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAG) | gnomAD v4 |
10 | g.123051189_123051213dup | CA2611279223 | ACADSB | c.1128+3_1128+27dup (n.1128+3_1128+27dup) c.822+3_822+27dup (n.822+3_822+27dup) | gnomAD v4 |