Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120737019A= | CA2067553156 | ACADS | c.244A= (p.Met82=) n.356A= | |
12 | g.120737019A>C | CA6830802 | ACADS | c.244A>C (p.Met82Leu) n.356A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737019A>G | CA386613988 | ACADS | c.244A>G (p.Met82Val) n.356A>G | dbSNP gnomAD v4 |
12 | g.120737019A>T | CA386613989 | ACADS | c.244A>T (p.Met82Leu) n.356A>T | |
12 | g.120737020T>A | CA386613990 | ACADS | c.245T>A (p.Met82Lys) n.357T>A | |
12 | g.120737020T>C | CA386613991 | ACADS | c.245T>C (p.Met82Thr) n.357T>C | gnomAD v4 |
12 | g.120737020T>G | CA386613992 | ACADS | c.245T>G (p.Met82Arg) n.357T>G | |
12 | g.120737021G>A | CA386613995 | ACADS | c.246G>A (p.Met82Ile) n.358G>A | gnomAD v4 |
12 | g.120737021G>C | CA386613994 | ACADS | c.246G>C (p.Met82Ile) n.358G>C | |
12 | g.120737021G>T | CA386613993 | ACADS | c.246G>T (p.Met82Ile) n.358G>T | |
12 | g.120737022G>A | CA386613996 | ACADS | c.247G>A (p.Asp83Asn) n.359G>A | |
12 | g.120737022G>C | CA386613997 | ACADS | c.247G>C (p.Asp83His) n.359G>C | |
12 | g.120737022G>T | CA386613998 | ACADS | c.247G>T (p.Asp83Tyr) n.359G>T | |
12 | g.120737023A>C | CA386613999 | ACADS | c.248A>C (p.Asp83Ala) n.360A>C | |
12 | g.120737023A>G | CA386614000 | ACADS | c.248A>G (p.Asp83Gly) n.360A>G | |
12 | g.120737023A>T | CA386614001 | ACADS | c.248A>T (p.Asp83Val) n.360A>T | |
12 | g.120737024C>A | CA386614002 | ACADS | c.249C>A (p.Asp83Glu) n.361C>A | |
12 | g.120737024C= | CA2067553158 | ACADS | c.249C= (p.Asp83=) n.361C= | |
12 | g.120737024C>G | CA386614003 | ACADS | c.249C>G (p.Asp83Glu) n.361C>G | gnomAD v4 |
12 | g.120737024C>T | CA6830803 | ACADS | c.249C>T (p.Asp83=) n.361C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737025G>A | CA6830804 | ACADS | c.250G>A (p.Val84Met) n.362G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737025G>C | CA386614004 | ACADS | c.250G>C (p.Val84Leu) n.362G>C | |
12 | g.120737025G= | CA2067553160 | ACADS | c.250G= (p.Val84=) n.362G= | |
12 | g.120737025G>T | CA386614005 | ACADS | c.250G>T (p.Val84Leu) n.362G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737026T>A | CA386614008 | ACADS | c.251T>A (p.Val84Glu) n.363T>A | |
12 | g.120737026T>C | CA386614007 | ACADS | c.251T>C (p.Val84Ala) n.363T>C | |
12 | g.120737026T>G | CA386614006 | ACADS | c.251T>G (p.Val84Gly) n.363T>G | |
12 | g.120737027G>A | CA482146356 | ACADS | c.252G>A (p.Val84=) n.364G>A | gnomAD v4 |
12 | g.120737027G>C | CA482146357 | ACADS | c.252G>C (p.Val84=) n.364G>C | |
12 | g.120737027G>T | CA482146358 | ACADS | c.252G>T (p.Val84=) n.364G>T | |
12 | g.120737027_120737028delinsGC | CA2067553162 | ACADS | c.252_253delinsGC (p.Val84=) n.364_365delinsGC | |
12 | g.120737028C>A | CA386614009 | ACADS | c.253C>A (p.Pro85Thr) n.365C>A | COSMIC |
12 | g.120737028C= | CA2067553165 | ACADS | c.253C= (p.Pro85=) n.365C= | |
12 | g.120737028C>G | CA386614010 | ACADS | c.253C>G (p.Pro85Ala) n.365C>G | |
12 | g.120737028C>T | CA386614011 | ACADS | c.253C>T (p.Pro85Ser) n.365C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737030del | CA6830805 | ACADS | c.255del (p.Glu86ArgfsTer?) n.367del | dbSNP ExAC gnomAD v2 |
12 | g.120737029C>A | CA386614012 | ACADS | c.254C>A (p.Pro85His) n.366C>A | |
12 | g.120737029C= | CA2067553167 | ACADS | c.254C= (p.Pro85=) n.366C= | |
12 | g.120737029C>G | CA386614013 | ACADS | c.254C>G (p.Pro85Arg) n.366C>G | dbSNP gnomAD v4 |
12 | g.120737029C>T | CA386614014 | ACADS | c.254C>T (p.Pro85Leu) n.366C>T | |
12 | g.120737030C>A | CA482146359 | ACADS | c.255C>A (p.Pro85=) n.367C>A | gnomAD v4 |
12 | g.120737030C= | CA2067553169 | ACADS | c.255C= (p.Pro85=) n.367C= | |
12 | g.120737030C>G | CA244521405 | ACADS | c.255C>G (p.Pro85=) n.367C>G | dbSNP |
12 | g.120737030C>T | CA6830806 | ACADS | c.255C>T (p.Pro85=) n.367C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737031G>A | CA6830807 | ACADS | c.256G>A (p.Glu86Lys) n.368G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737031G>C | CA386614015 | ACADS | c.256G>C (p.Glu86Gln) n.368G>C | |
12 | g.120737031G= | CA2067553171 | ACADS | c.256G= (p.Glu86=) n.368G= | |
12 | g.120737031G>T | CA386614016 | ACADS | c.256G>T (p.Glu86Ter) n.368G>T | gnomAD v4 |
12 | g.120737032A>C | CA386614019 | ACADS | c.257A>C (p.Glu86Ala) n.369A>C | |
12 | g.120737032A>G | CA386614018 | ACADS | c.257A>G (p.Glu86Gly) n.369A>G | |
12 | g.120737032A>T | CA386614017 | ACADS | c.257A>T (p.Glu86Val) n.369A>T | |
12 | g.120737033G>A | CA482146360 | ACADS | c.258G>A (p.Glu86=) n.370G>A | |
12 | g.120737033G>C | CA386614020 | ACADS | c.258G>C (p.Glu86Asp) n.370G>C | |
12 | g.120737033G>T | CA386614021 | ACADS | c.258G>T (p.Glu86Asp) n.370G>T | |
12 | g.120737034G>A | CA386614022 | ACADS | c.259G>A (p.Glu87Lys) n.371G>A | ClinVar gnomAD v4 |
12 | g.120737034G>C | CA386614023 | ACADS | c.259G>C (p.Glu87Gln) n.371G>C | |
12 | g.120737034G>T | CA386614024 | ACADS | c.259G>T (p.Glu87Ter) n.371G>T | gnomAD v4 |
12 | g.120737035A>C | CA386614025 | ACADS | c.260A>C (p.Glu87Ala) n.372A>C | |
12 | g.120737035A>G | CA386614026 | ACADS | c.260A>G (p.Glu87Gly) n.372A>G | |
12 | g.120737035A>T | CA386614027 | ACADS | c.260A>T (p.Glu87Val) n.372A>T | |
12 | g.120737036G>A | CA482146361 | ACADS | c.261G>A (p.Glu87=) n.373G>A | |
12 | g.120737036G>C | CA386614028 | ACADS | c.261G>C (p.Glu87Asp) n.373G>C | |
12 | g.120737036G>T | CA386614029 | ACADS | c.261G>T (p.Glu87Asp) n.373G>T | |
12 | g.120737037C>A | CA386614030 | ACADS | c.262C>A (p.Leu88Ile) n.374C>A | |
12 | g.120737037C= | CA2067553173 | ACADS | c.262C= (p.Leu88=) n.374C= | |
12 | g.120737037C>G | CA386614031 | ACADS | c.262C>G (p.Leu88Val) n.374C>G | dbSNP gnomAD v4 |
12 | g.120737037C>T | CA386614032 | ACADS | c.262C>T (p.Leu88Phe) n.374C>T | gnomAD v4 |
12 | g.120737038T>A | CA386614035 | ACADS | c.263T>A (p.Leu88His) n.375T>A | |
12 | g.120737038T>C | CA386614034 | ACADS | c.263T>C (p.Leu88Pro) n.375T>C | gnomAD v4 |
12 | g.120737038T>G | CA386614033 | ACADS | c.263T>G (p.Leu88Arg) n.375T>G | ClinVar dbSNP gnomAD v4 |
12 | g.120737038T= | CA2067553175 | ACADS | c.263T= (p.Leu88=) n.375T= | |
12 | g.120737039T>A | CA482146363 | ACADS | c.264T>A (p.Leu88=) n.376T>A | |
12 | g.120737039T>C | CA244521425 | ACADS | c.264T>C (p.Leu88=) n.376T>C | dbSNP |
12 | g.120737039T>G | CA482146362 | ACADS | c.264T>G (p.Leu88=) n.376T>G | gnomAD v4 |
12 | g.120737039T= | CA2067553177 | ACADS | c.264T= (p.Leu88=) n.376T= | |
12 | g.120737040G>A | CA386614036 | ACADS | c.265G>A (p.Gly89Ser) n.377G>A | |
12 | g.120737040G>C | CA386614037 | ACADS | c.265G>C (p.Gly89Arg) n.377G>C | |
12 | g.120737040G>T | CA386614038 | ACADS | c.265G>T (p.Gly89Cys) n.377G>T | |
12 | g.120737041G>A | CA386614039 | ACADS | c.266G>A (p.Gly89Asp) n.378G>A | gnomAD v4 |
12 | g.120737041G>C | CA386614040 | ACADS | c.266G>C (p.Gly89Ala) n.378G>C | |
12 | g.120737041G>T | CA386614041 | ACADS | c.266G>T (p.Gly89Val) n.378G>T | |
12 | g.120737042C>A | CA6830809 | ACADS | c.267C>A (p.Gly89=) n.379C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737042C= | CA2067553179 | ACADS | c.267C= (p.Gly89=) n.379C= | |
12 | g.120737042C>G | CA482146364 | ACADS | c.267C>G (p.Gly89=) n.379C>G | |
12 | g.120737042C>T | CA6830808 | ACADS | c.267C>T (p.Gly89=) n.379C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737043G>A | CA252883 | ACADS | c.268G>A (p.Gly90Ser) n.380G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737043G>C | CA386614042 | ACADS | c.268G>C (p.Gly90Arg) n.380G>C | gnomAD v4 |
12 | g.120737043G= | CA2067553183 | ACADS | c.268G= (p.Gly90=) n.380G= | |
12 | g.120737043G>T | CA386614043 | ACADS | c.268G>T (p.Gly90Cys) n.380G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737044del | CA2621366020 | ACADS | c.269del (p.Gly90ValfsTer27) n.381del | gnomAD v4 |
12 | g.120737044G>A | CA386614044 | ACADS | c.269G>A (p.Gly90Asp) n.381G>A | dbSNP gnomAD v4 |
12 | g.120737044G>C | CA386614045 | ACADS | c.269G>C (p.Gly90Ala) n.381G>C | |
12 | g.120737044G= | CA2067553187 | ACADS | c.269G= (p.Gly90=) n.381G= | |
12 | g.120737044G>T | CA386614046 | ACADS | c.269G>T (p.Gly90Val) n.381G>T | |
12 | g.120737045T>A | CA482146366 | ACADS | c.270T>A (p.Gly90=) n.382T>A | |
12 | g.120737045T>C | CA482146367 | ACADS | c.270T>C (p.Gly90=) n.382T>C | dbSNP gnomAD v4 |
12 | g.120737045T>G | CA482146365 | ACADS | c.270T>G (p.Gly90=) n.382T>G | dbSNP |
12 | g.120737045T= | CA2067553189 | ACADS | c.270T= (p.Gly90=) n.382T= | |
12 | g.120737046G>A | CA386614048 | ACADS | c.271G>A (p.Ala91Thr) n.383G>A | gnomAD v4 |
12 | g.120737046G>C | CA386614049 | ACADS | c.271G>C (p.Ala91Pro) n.383G>C | |
12 | g.120737046G>T | CA386614047 | ACADS | c.271G>T (p.Ala91Ser) n.383G>T | gnomAD v4 |
12 | g.120737047C>A | CA386614050 | ACADS | c.272C>A (p.Ala91Asp) n.384C>A | dbSNP |
12 | g.120737047C= | CA2067553191 | ACADS | c.272C= (p.Ala91=) n.384C= | |
12 | g.120737047C>G | CA386614051 | ACADS | c.272C>G (p.Ala91Gly) n.384C>G | gnomAD v4 |
12 | g.120737047C>T | CA386614052 | ACADS | c.272C>T (p.Ala91Val) n.384C>T | gnomAD v4 |
12 | g.120737048T>A | CA482146368 | ACADS | c.273T>A (p.Ala91=) n.385T>A | |
12 | g.120737048T>C | CA482146369 | ACADS | c.273T>C (p.Ala91=) n.385T>C | |
12 | g.120737048T>G | CA482146370 | ACADS | c.273T>G (p.Ala91=) n.385T>G | |
12 | g.120737049G>A | CA386614053 | ACADS | c.274G>A (p.Gly92Ser) n.386G>A | |
12 | g.120737049G>C | CA386614054 | ACADS | c.274G>C (p.Gly92Arg) n.386G>C | |
12 | g.120737049G= | CA2067553194 | ACADS | c.274G= (p.Gly92=) n.386G= | |
12 | g.120737049G>T | CA252880 | ACADS | c.274G>T (p.Gly92Cys) n.386G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737050G>A | CA386614055 | ACADS | c.275G>A (p.Gly92Asp) n.387G>A | |
12 | g.120737050G>C | CA386614056 | ACADS | c.275G>C (p.Gly92Ala) n.387G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737050G= | CA2067553196 | ACADS | c.275G= (p.Gly92=) n.387G= | |
12 | g.120737050G>T | CA386614057 | ACADS | c.275G>T (p.Gly92Val) n.387G>T | |
12 | g.120737051C>A | CA482146373 | ACADS | c.276C>A (p.Gly92=) n.388C>A | |
12 | g.120737051C>G | CA482146371 | ACADS | c.276C>G (p.Gly92=) n.388C>G | |
12 | g.120737051C>T | CA482146372 | ACADS | c.276C>T (p.Gly92=) n.388C>T | |
12 | g.120737052C>A | CA386614058 | ACADS | c.277C>A (p.Leu93Ile) n.389C>A | ClinVar dbSNP gnomAD v4 |
12 | g.120737052C= | CA2067553199 | ACADS | c.277C= (p.Leu93=) n.389C= | |
12 | g.120737052C>G | CA386614059 | ACADS | c.277C>G (p.Leu93Val) n.389C>G | dbSNP gnomAD v2 |
12 | g.120737052C>T | CA386614060 | ACADS | c.277C>T (p.Leu93Phe) n.389C>T | |
12 | g.120737053T>A | CA386614063 | ACADS | c.278T>A (p.Leu93His) n.390T>A | |
12 | g.120737053T>C | CA386614061 | ACADS | c.278T>C (p.Leu93Pro) n.390T>C | |
12 | g.120737053T>G | CA386614062 | ACADS | c.278T>G (p.Leu93Arg) n.390T>G | |
12 | g.120737054C>A | CA482146374 | ACADS | c.279C>A (p.Leu93=) n.391C>A | |
12 | g.120737054C= | CA2067553203 | ACADS | c.279C= (p.Leu93=) n.391C= | |
12 | g.120737054C>G | CA482146375 | ACADS | c.279C>G (p.Leu93=) n.391C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737054C>T | CA6830810 | ACADS | c.279C>T (p.Leu93=) n.391C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737055G>A | CA6830812 | ACADS | c.280G>A (p.Asp94Asn) n.392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737055G>C | CA6830811 | ACADS | c.280G>C (p.Asp94His) n.392G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737055G= | CA2067553205 | ACADS | c.280G= (p.Asp94=) n.392G= | |
12 | g.120737055G>T | CA386614064 | ACADS | c.280G>T (p.Asp94Tyr) n.392G>T | gnomAD v4 |
12 | g.120737056A>C | CA386614065 | ACADS | c.281A>C (p.Asp94Ala) n.393A>C | |
12 | g.120737056A>G | CA386614066 | ACADS | c.281A>G (p.Asp94Gly) n.393A>G | |
12 | g.120737056A>T | CA386614067 | ACADS | c.281A>T (p.Asp94Val) n.393A>T | |
12 | g.120737057T>A | CA386614068 | ACADS | c.282T>A (p.Asp94Glu) n.394T>A | |
12 | g.120737057T>C | CA482146376 | ACADS | c.282T>C (p.Asp94=) n.394T>C | |
12 | g.120737057T>G | CA386614069 | ACADS | c.282T>G (p.Asp94Glu) n.394T>G | |
12 | g.120737058T>A | CA386614070 | ACADS | c.283T>A (p.Tyr95Asn) n.395T>A | |
12 | g.120737058T>C | CA386614071 | ACADS | c.283T>C (p.Tyr95His) n.395T>C | |
12 | g.120737058T>G | CA386614072 | ACADS | c.283T>G (p.Tyr95Asp) n.395T>G | |
12 | g.120737059A= | CA2067553207 | ACADS | c.284A= (p.Tyr95=) n.396A= | |
12 | g.120737059A>C | CA386614074 | ACADS | c.284A>C (p.Tyr95Ser) n.396A>C | |
12 | g.120737059A>G | CA6830813 | ACADS | c.284A>G (p.Tyr95Cys) n.396A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737059A>T | CA386614073 | ACADS | c.284A>T (p.Tyr95Phe) n.396A>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737060C>A | CA386614075 | ACADS | c.285C>A (p.Tyr95Ter) n.397C>A | |
12 | g.120737060C>G | CA386614076 | ACADS | c.285C>G (p.Tyr95Ter) n.397C>G | |
12 | g.120737060C>T | CA482146377 | ACADS | c.285C>T (p.Tyr95=) n.397C>T | ClinVar |
12 | g.120737061C>A | CA386614077 | ACADS | c.286C>A (p.Leu96Met) n.398C>A | |
12 | g.120737061C= | CA2067553209 | ACADS | c.286C= (p.Leu96=) n.398C= | |
12 | g.120737061C>G | CA386614078 | ACADS | c.286C>G (p.Leu96Val) n.398C>G | |
12 | g.120737061C>T | CA6830814 | ACADS | c.286C>T (p.Leu96=) n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737062T>A | CA386614079 | ACADS | c.287T>A (p.Leu96Gln) n.399T>A | |
12 | g.120737062T>C | CA386614080 | ACADS | c.287T>C (p.Leu96Pro) n.399T>C | |
12 | g.120737062T>G | CA386614081 | ACADS | c.287T>G (p.Leu96Arg) n.399T>G | dbSNP |
12 | g.120737062T= | CA2067553211 | ACADS | c.287T= (p.Leu96=) n.399T= | |
12 | g.120737063G>A | CA482146378 | ACADS | c.288G>A (p.Leu96=) n.400G>A | gnomAD v4 |
12 | g.120737063G>C | CA482146379 | ACADS | c.288G>C (p.Leu96=) n.400G>C | |
12 | g.120737063G>T | CA482146380 | ACADS | c.288G>T (p.Leu96=) n.400G>T | |
12 | g.120737064G>A | CA386614082 | ACADS | c.289G>A (p.Ala97Thr) n.401G>A | gnomAD v4 |
12 | g.120737064G>C | CA386614083 | ACADS | c.289G>C (p.Ala97Pro) n.401G>C | |
12 | g.120737064G>T | CA386614084 | ACADS | c.289G>T (p.Ala97Ser) n.401G>T | gnomAD v4 |
12 | g.120737065C>A | CA386614085 | ACADS | c.290C>A (p.Ala97Asp) n.402C>A | gnomAD v4 |
12 | g.120737065C= | CA2067553213 | ACADS | c.290C= (p.Ala97=) n.402C= | |
12 | g.120737065C>G | CA386614086 | ACADS | c.290C>G (p.Ala97Gly) n.402C>G | |
12 | g.120737065C>T | CA6830815 | ACADS | c.290C>T (p.Ala97Val) n.402C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737066C>A | CA482146381 | ACADS | c.291C>A (p.Ala97=) n.403C>A | |
12 | g.120737066C>G | CA482146382 | ACADS | c.291C>G (p.Ala97=) n.403C>G | gnomAD v4 |
12 | g.120737066C>T | CA482146383 | ACADS | c.291C>T (p.Ala97=) n.403C>T | gnomAD v4 |
12 | g.120737067T>A | CA386614089 | ACADS | c.292T>A (p.Tyr98Asn) n.404T>A | |
12 | g.120737067T>C | CA386614088 | ACADS | c.292T>C (p.Tyr98His) n.404T>C | |
12 | g.120737067T>G | CA386614087 | ACADS | c.292T>G (p.Tyr98Asp) n.404T>G | |
12 | g.120737068A= | CA2067553215 | ACADS | c.293A= (p.Tyr98=) n.405A= | |
12 | g.120737068A>C | CA386614090 | ACADS | c.293A>C (p.Tyr98Ser) n.405A>C | |
12 | g.120737068A>G | CA244521482 | ACADS | c.293A>G (p.Tyr98Cys) n.405A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737068A>T | CA386614091 | ACADS | c.293A>T (p.Tyr98Phe) n.405A>T | |
12 | g.120737069C>A | CA386614092 | ACADS | c.294C>A (p.Tyr98Ter) n.406C>A | |
12 | g.120737069C= | CA2067553218 | ACADS | c.294C= (p.Tyr98=) n.406C= | |
12 | g.120737069C>G | CA386614093 | ACADS | c.294C>G (p.Tyr98Ter) n.406C>G | |
12 | g.120737069C>T | CA6830816 | ACADS | c.294C>T (p.Tyr98=) n.406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737070G>A | CA386614094 | ACADS | c.295G>A (p.Ala99Thr) n.407G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737070G>C | CA386614095 | ACADS | c.295G>C (p.Ala99Pro) n.407G>C | |
12 | g.120737070G= | CA2067553220 | ACADS | c.295G= (p.Ala99=) n.407G= | |
12 | g.120737070G>T | CA386614096 | ACADS | c.295G>T (p.Ala99Ser) n.407G>T | |
12 | g.120737071C>A | CA386614097 | ACADS | c.296C>A (p.Ala99Asp) n.408C>A | |
12 | g.120737071C>G | CA386614098 | ACADS | c.296C>G (p.Ala99Gly) n.408C>G | |
12 | g.120737071C>T | CA386614099 | ACADS | c.296C>T (p.Ala99Val) n.408C>T | gnomAD v4 |
12 | g.120737072C>A | CA482146390 | ACADS | c.297C>A (p.Ala99=) n.409C>A | gnomAD v4 |
12 | g.120737072C= | CA2067553222 | ACADS | c.297C= (p.Ala99=) n.409C= | |
12 | g.120737072C>G | CA482146391 | ACADS | c.297C>G (p.Ala99=) n.409C>G | |
12 | g.120737072C>T | CA244521497 | ACADS | c.297C>T (p.Ala99=) n.409C>T | dbSNP gnomAD v4 |
12 | g.120737073A= | CA2067553225 | ACADS | c.298A= (p.Ile100=) n.410A= | |
12 | g.120737073A>C | CA386614100 | ACADS | c.298A>C (p.Ile100Leu) n.410A>C | |
12 | g.120737073A>G | CA6830817 | ACADS | c.298A>G (p.Ile100Val) n.410A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737073A>T | CA386614101 | ACADS | c.298A>T (p.Ile100Phe) n.410A>T | |
12 | g.120737074T>A | CA386614103 | ACADS | c.299T>A (p.Ile100Asn) n.411T>A | |
12 | g.120737074T>C | CA386614104 | ACADS | c.299T>C (p.Ile100Thr) n.411T>C | gnomAD v4 |
12 | g.120737074T>G | CA386614102 | ACADS | c.299T>G (p.Ile100Ser) n.411T>G | |
12 | g.120737075C>A | CA482146393 | ACADS | c.300C>A (p.Ile100=) n.412C>A | gnomAD v4 |
12 | g.120737075C= | CA2067553227 | ACADS | c.300C= (p.Ile100=) n.412C= | |
12 | g.120737075C>G | CA386614105 | ACADS | c.300C>G (p.Ile100Met) n.412C>G | |
12 | g.120737075C>T | CA6830818 | ACADS | c.300C>T (p.Ile100=) n.412C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.120737076G>A | CA386614106 | ACADS | c.301G>A (p.Ala101Thr) n.413G>A | ClinVar dbSNP gnomAD v4 |
12 | g.120737076G>C | CA386614107 | ACADS | c.301G>C (p.Ala101Pro) n.413G>C | |
12 | g.120737076G= | CA2067553229 | ACADS | c.301G= (p.Ala101=) n.413G= | |
12 | g.120737076G>T | CA386614108 | ACADS | c.301G>T (p.Ala101Ser) n.413G>T | gnomAD v4 |
12 | g.120737077C>A | CA386614109 | ACADS | c.302C>A (p.Ala101Asp) n.414C>A | gnomAD v4 |
12 | g.120737077C= | CA2067553232 | ACADS | c.302C= (p.Ala101=) n.414C= | |
12 | g.120737077C>G | CA386614110 | ACADS | c.302C>G (p.Ala101Gly) n.414C>G | gnomAD v4 |
12 | g.120737077C>T | CA244521505 | ACADS | c.302C>T (p.Ala101Val) n.414C>T | ClinVar dbSNP |
12 | g.120737078C>A | CA6830819 | ACADS | c.303C>A (p.Ala101=) n.415C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737078C= | CA2067553235 | ACADS | c.303C= (p.Ala101=) n.415C= | |
12 | g.120737078C>G | CA482146396 | ACADS | c.303C>G (p.Ala101=) n.415C>G | |
12 | g.120737078C>T | CA482146395 | ACADS | c.303C>T (p.Ala101=) n.415C>T | gnomAD v4 |
12 | g.120737079A= | CA2067553238 | ACADS | c.304A= (p.Met102=) n.416A= | |
12 | g.120737079A>C | CA386614111 | ACADS | c.304A>C (p.Met102Leu) n.416A>C | |
12 | g.120737079A>G | CA6830820 | ACADS | c.304A>G (p.Met102Val) n.416A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737079A>T | CA386614112 | ACADS | c.304A>T (p.Met102Leu) n.416A>T | gnomAD v4 |
12 | g.120737080T>A | CA386614114 | ACADS | c.305T>A (p.Met102Lys) n.417T>A | |
12 | g.120737080T>C | CA386614115 | ACADS | c.305T>C (p.Met102Thr) n.417T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737080T>G | CA386614113 | ACADS | c.305T>G (p.Met102Arg) n.417T>G | |
12 | g.120737080T= | CA2067553241 | ACADS | c.305T= (p.Met102=) n.417T= | |
12 | g.120737080_120737083delinsTGGA | CA2067553242 | ACADS | c.305_308delinsTGGA (p.Met102=) n.417_420delinsTGGA | |
12 | g.120737081G>A | CA386614118 | ACADS | c.306G>A (p.Met102Ile) n.418G>A | gnomAD v4 |
12 | g.120737081G>C | CA386614117 | ACADS | c.306G>C (p.Met102Ile) n.418G>C | |
12 | g.120737081G>T | CA386614116 | ACADS | c.306G>T (p.Met102Ile) n.418G>T | gnomAD v4 |
12 | g.120737085_120737087del | CA252884 | ACADS | c.310_312del (p.Glu104del) n.422_424del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737082G>A | CA386614119 | ACADS | c.307G>A (p.Glu103Lys) n.419G>A | gnomAD v4 |
12 | g.120737082G>C | CA386614120 | ACADS | c.307G>C (p.Glu103Gln) n.419G>C | |
12 | g.120737082G>T | CA386614121 | ACADS | c.307G>T (p.Glu103Ter) n.419G>T | |
12 | g.120737083A= | CA2067553248 | ACADS | c.308A= (p.Glu103=) n.420A= | |
12 | g.120737083A>C | CA386614122 | ACADS | c.308A>C (p.Glu103Ala) n.420A>C | |
12 | g.120737083A>G | CA6830821 | ACADS | c.308A>G (p.Glu103Gly) n.420A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737083A>T | CA386614123 | ACADS | c.308A>T (p.Glu103Val) n.420A>T | |
12 | g.120737084G>A | CA482146403 | ACADS | c.309G>A (p.Glu103=) n.421G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737084G>C | CA386614124 | ACADS | c.309G>C (p.Glu103Asp) n.421G>C | |
12 | g.120737084G= | CA2067553250 | ACADS | c.309G= (p.Glu103=) n.421G= | |
12 | g.120737084G>T | CA386614125 | ACADS | c.309G>T (p.Glu103Asp) n.421G>T | |
12 | g.120737085G>A | CA386614126 | ACADS | c.310G>A (p.Glu104Lys) n.422G>A | gnomAD v4 |
12 | g.120737085G>C | CA386614127 | ACADS | c.310G>C (p.Glu104Gln) n.422G>C | |
12 | g.120737085G>T | CA386614128 | ACADS | c.310G>T (p.Glu104Ter) n.422G>T | |
12 | g.120737086A>C | CA386614131 | ACADS | c.311A>C (p.Glu104Ala) n.423A>C | |
12 | g.120737086A>G | CA386614129 | ACADS | c.311A>G (p.Glu104Gly) n.423A>G | |
12 | g.120737086A>T | CA386614130 | ACADS | c.311A>T (p.Glu104Val) n.423A>T | |
12 | g.120737087G>A | CA482146407 | ACADS | c.312G>A (p.Glu104=) n.424G>A | gnomAD v4 |
12 | g.120737087G>C | CA386614132 | ACADS | c.312G>C (p.Glu104Asp) n.424G>C | |
12 | g.120737087G= | CA2067553252 | ACADS | c.312G= (p.Glu104=) n.424G= | |
12 | g.120737087G>T | CA6830822 | ACADS | c.312G>T (p.Glu104Asp) n.424G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737088A= | CA2067553255 | ACADS | c.313A= (p.Ile105=) n.425A= | |
12 | g.120737088A>C | CA6830823 | ACADS | c.313A>C (p.Ile105Leu) n.425A>C | dbSNP ExAC |
12 | g.120737088A>G | CA386614133 | ACADS | c.313A>G (p.Ile105Val) n.425A>G | gnomAD v4 |
12 | g.120737088A>T | CA386614134 | ACADS | c.313A>T (p.Ile105Phe) n.425A>T | ClinVar dbSNP |
12 | g.120737089T>A | CA244521567 | ACADS | c.314T>A (p.Ile105Asn) n.426T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737089T>C | CA386614135 | ACADS | c.314T>C (p.Ile105Thr) n.426T>C | |
12 | g.120737089T>G | CA386614136 | ACADS | c.314T>G (p.Ile105Ser) n.426T>G | |
12 | g.120737089T= | CA2067553261 | ACADS | c.314T= (p.Ile105=) n.426T= | |
12 | g.120737089_120737090delinsTC | CA2067553259 | ACADS | c.314_315delinsTC (p.Ile105=) n.426_427delinsTC | |
12 | g.120737090del | CA16041565 | ACADS | c.315del (p.Ser106AlafsTer11) n.427del | ClinVar dbSNP gnomAD v4 |
12 | g.120737090C>A | CA482146409 | ACADS | c.315C>A (p.Ile105=) n.427C>A | gnomAD v4 |
12 | g.120737090C= | CA2067553265 | ACADS | c.315C= (p.Ile105=) n.427C= | |
12 | g.120737090C>G | CA386614137 | ACADS | c.315C>G (p.Ile105Met) n.427C>G | |
12 | g.120737090C>T | CA482146410 | ACADS | c.315C>T (p.Ile105=) n.427C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737091A>C | CA386614140 | ACADS | c.316A>C (p.Ser106Arg) n.428A>C | |
12 | g.120737091A>G | CA386614139 | ACADS | c.316A>G (p.Ser106Gly) n.428A>G | gnomAD v4 |
12 | g.120737091A>T | CA386614138 | ACADS | c.316A>T (p.Ser106Cys) n.428A>T | |
12 | g.120737092G>A | CA386614141 | ACADS | c.317G>A (p.Ser106Asn) n.429G>A | |
12 | g.120737092G>C | CA386614142 | ACADS | c.317G>C (p.Ser106Thr) n.429G>C | |
12 | g.120737092G= | CA2067553267 | ACADS | c.317G= (p.Ser106=) n.429G= | |
12 | g.120737092G>T | CA386614143 | ACADS | c.317G>T (p.Ser106Ile) n.429G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737093C>A | CA386614144 | ACADS | c.318C>A (p.Ser106Arg) n.430C>A | gnomAD v4 |
12 | g.120737093C>G | CA386614145 | ACADS | c.318C>G (p.Ser106Arg) n.430C>G | |
12 | g.120737093C>T | CA482146411 | ACADS | c.318C>T (p.Ser106=) n.430C>T | gnomAD v4 |
12 | g.120737094C>A | CA386614146 | ACADS | c.319C>A (p.Arg107Ser) n.431C>A | |
12 | g.120737094C= | CA2067553271 | ACADS | c.319C= (p.Arg107=) n.431C= | |
12 | g.120737094C>G | CA386614147 | ACADS | c.319C>G (p.Arg107Gly) n.431C>G | |
12 | g.120737094C>T | CA312209 | ACADS | c.319C>T (p.Arg107Cys) n.431C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737094_120737096delinsCGT | CA2067553274 | ACADS | c.319_321delinsCGT (p.Arg107=) n.431_433delinsCGT | |
12 | g.120737094_120737096delinsTGC | CA16619448 | ACADS | c.319_321delinsTGC (p.Arg107Cys) n.431_433delinsTGC | ClinVar dbSNP |
12 | g.120737095G>A | CA6830824 | ACADS | c.320G>A (p.Arg107His) n.432G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737095G>C | CA386614148 | ACADS | c.320G>C (p.Arg107Pro) n.432G>C | |
12 | g.120737095G= | CA2067553277 | ACADS | c.320G= (p.Arg107=) n.432G= | |
12 | g.120737095G>T | CA386614149 | ACADS | c.320G>T (p.Arg107Leu) n.432G>T | |
12 | g.120737095_120737096delinsAC | CA2739277342 | ACADS | c.320_321delinsAC (p.Arg107His) n.432_433delinsAC | ClinVar |
12 | g.120737096T>A | CA482146415 | ACADS | c.321T>A (p.Arg107=) n.433T>A | |
12 | g.120737096T>C | CA289253 | ACADS | c.321T>C (p.Arg107=) n.433T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737096T>G | CA482146416 | ACADS | c.321T>G (p.Arg107=) n.433T>G | |
12 | g.120737096T= | CA2067553280 | ACADS | c.321T= (p.Arg107=) n.433T= | |
12 | g.120737096_120737097delinsCA | CA1139662938 | ACADS | c.321_322delinsCA (p.Gly108Ser) n.433_434delinsCA | ClinVar |
12 | g.120737097G>A | CA6830825 | ACADS | c.322G>A (p.Gly108Ser) n.434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737097G>C | CA386614151 | ACADS | c.322G>C (p.Gly108Arg) n.434G>C | |
12 | g.120737097G= | CA2067553283 | ACADS | c.322G= (p.Gly108=) n.434G= | |
12 | g.120737097G>T | CA386614150 | ACADS | c.322G>T (p.Gly108Cys) n.434G>T | gnomAD v4 |
12 | g.120737098G>A | CA259861 | ACADS | c.323G>A (p.Gly108Asp) n.435G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737098G>C | CA386614152 | ACADS | c.323G>C (p.Gly108Ala) n.435G>C | gnomAD v4 |
12 | g.120737098G= | CA2067553287 | ACADS | c.323G= (p.Gly108=) n.435G= | |
12 | g.120737098G>T | CA386614153 | ACADS | c.323G>T (p.Gly108Val) n.435G>T | gnomAD v4 |
12 | g.120737099C>A | CA482146420 | ACADS | c.324C>A (p.Gly108=) n.436C>A | gnomAD v4 |
12 | g.120737099C= | CA2067553290 | ACADS | c.324C= (p.Gly108=) n.436C= | |
12 | g.120737099C>G | CA482146421 | ACADS | c.324C>G (p.Gly108=) n.436C>G | |
12 | g.120737099C>T | CA482146422 | ACADS | c.324C>T (p.Gly108=) n.436C>T | dbSNP |
12 | g.120737100T>A | CA386614154 | ACADS | c.325T>A (p.Cys109Ser) n.437T>A | |
12 | g.120737100T>C | CA386614155 | ACADS | c.325T>C (p.Cys109Arg) n.437T>C | |
12 | g.120737100T>G | CA386614156 | ACADS | c.325T>G (p.Cys109Gly) n.437T>G | |
12 | g.120737100_120737103del | CA912973551 | ACADS | c.325_328del (p.Cys109ProfsTer7) n.437_440del | |
12 | g.120737100_120737103delinsTGCG | CA2067553292 | ACADS | c.325_328delinsTGCG (p.Cys109=) n.437_440delinsTGCG | |
12 | g.120737101G>A | CA386614157 | ACADS | c.326G>A (p.Cys109Tyr) n.438G>A | gnomAD v4 |
12 | g.120737101G>C | CA386614158 | ACADS | c.326G>C (p.Cys109Ser) n.438G>C | |
12 | g.120737101G>T | CA386614159 | ACADS | c.326G>T (p.Cys109Phe) n.438G>T | gnomAD v4 |
12 | g.120737101_120737103del | CA608059761 | ACADS | c.326_328del (p.Cys109_Ala110delinsSer) n.438_440del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737102C>A | CA386614160 | ACADS | c.327C>A (p.Cys109Ter) n.439C>A | gnomAD v4 |
12 | g.120737102C= | CA2067553298 | ACADS | c.327C= (p.Cys109=) n.439C= | |
12 | g.120737102C>G | CA386614161 | ACADS | c.327C>G (p.Cys109Trp) n.439C>G | |
12 | g.120737102C>T | CA6830826 | ACADS | c.327C>T (p.Cys109=) n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.120737102_120737103insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG | CA2621366394 | ACADS | c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG (p.Ala110SerfsTer23) n.439_440insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG | gnomAD v4 |
12 | g.120737103G>A | CA6830827 | ACADS | c.328G>A (p.Ala110Thr) n.440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737103G>C | CA386614163 | ACADS | c.328G>C (p.Ala110Pro) n.440G>C | |
12 | g.120737103G= | CA2067553301 | ACADS | c.328G= (p.Ala110=) n.440G= | |
12 | g.120737103G>T | CA386614162 | ACADS | c.328G>T (p.Ala110Ser) n.440G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737104C>A | CA386614164 | ACADS | c.329C>A (p.Ala110Asp) n.441C>A | gnomAD v4 |
12 | g.120737104C= | CA2067553304 | ACADS | c.329C= (p.Ala110=) n.441C= | |
12 | g.120737104C>G | CA386614165 | ACADS | c.329C>G (p.Ala110Gly) n.441C>G | gnomAD v4 |
12 | g.120737104C>T | CA386614166 | ACADS | c.329C>T (p.Ala110Val) n.441C>T | dbSNP gnomAD v2 |
12 | g.120737105C>A | CA482146427 | ACADS | c.330C>A (p.Ala110=) n.442C>A | gnomAD v4 |
12 | g.120737105C>G | CA482146428 | ACADS | c.330C>G (p.Ala110=) n.442C>G | |
12 | g.120737105C>T | CA482146429 | ACADS | c.330C>T (p.Ala110=) n.442C>T | |
12 | g.120737106T>A | CA386614167 | ACADS | c.331T>A (p.Ser111Thr) n.443T>A | gnomAD v4 |
12 | g.120737106T>C | CA386614168 | ACADS | c.331T>C (p.Ser111Pro) n.443T>C | |
12 | g.120737106T>G | CA386614169 | ACADS | c.331T>G (p.Ser111Ala) n.443T>G | |
12 | g.120737107C>A | CA386614170 | ACADS | c.332C>A (p.Ser111Tyr) n.444C>A | |
12 | g.120737107C= | CA2067553307 | ACADS | c.332C= (p.Ser111=) n.444C= | |
12 | g.120737107C>G | CA386614171 | ACADS | c.332C>G (p.Ser111Cys) n.444C>G | |
12 | g.120737107C>T | CA312210 | ACADS | c.332C>T (p.Ser111Phe) n.444C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737108C>A | CA482146434 | ACADS | c.333C>A (p.Ser111=) n.445C>A | gnomAD v4 |
12 | g.120737108C>G | CA482146433 | ACADS | c.333C>G (p.Ser111=) n.445C>G | |
12 | g.120737108C>T | CA482146432 | ACADS | c.333C>T (p.Ser111=) n.445C>T | gnomAD v4 |
12 | g.120737109A>C | CA386614172 | ACADS | c.334A>C (p.Thr112Pro) n.446A>C | |
12 | g.120737109A>G | CA386614173 | ACADS | c.334A>G (p.Thr112Ala) n.446A>G | |
12 | g.120737109A>T | CA386614174 | ACADS | c.334A>T (p.Thr112Ser) n.446A>T | |
12 | g.120737110C>A | CA386614175 | ACADS | c.335C>A (p.Thr112Asn) n.447C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737110C= | CA2067553311 | ACADS | c.335C= (p.Thr112=) n.447C= | |
12 | g.120737110C>G | CA386614177 | ACADS | c.335C>G (p.Thr112Ser) n.447C>G | |
12 | g.120737110C>T | CA386614176 | ACADS | c.335C>T (p.Thr112Ile) n.447C>T | gnomAD v4 |
12 | g.120737111C>A | CA482146439 | ACADS | c.336C>A (p.Thr112=) n.448C>A | gnomAD v4 |
12 | g.120737111C= | CA2067553313 | ACADS | c.336C= (p.Thr112=) n.448C= | |
12 | g.120737111C>G | CA482146438 | ACADS | c.336C>G (p.Thr112=) n.448C>G | gnomAD v4 |
12 | g.120737111C>T | CA6830828 | ACADS | c.336C>T (p.Thr112=) n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737112G>A | CA6830829 | ACADS | c.337G>A (p.Gly113Arg) n.449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.120737112G>C | CA386614178 | ACADS | c.337G>C (p.Gly113Arg) n.449G>C | gnomAD v4 |
12 | g.120737112G= | CA2067553318 | ACADS | c.337G= (p.Gly113=) n.449G= | |
12 | g.120737112G>T | CA386614179 | ACADS | c.337G>T (p.Gly113Ter) n.449G>T | gnomAD v4 |
12 | g.120737113G>A | CA386614180 | ACADS | c.338G>A (p.Gly113Glu) n.450G>A | dbSNP gnomAD v2 |
12 | g.120737113G>C | CA386614181 | ACADS | c.338G>C (p.Gly113Ala) n.450G>C | |
12 | g.120737113G= | CA2067553323 | ACADS | c.338G= (p.Gly113=) n.450G= | |
12 | g.120737113G>T | CA386614182 | ACADS | c.338G>T (p.Gly113Val) n.450G>T | gnomAD v4 |
12 | g.120737114A= | CA2067553325 | ACADS | c.339A= (p.Gly113=) n.451A= | |
12 | g.120737114A>C | CA482146440 | ACADS | c.339A>C (p.Gly113=) n.451A>C | |
12 | g.120737114A>G | CA482146442 | ACADS | c.339A>G (p.Gly113=) n.451A>G | dbSNP |
12 | g.120737114A>T | CA482146441 | ACADS | c.339A>T (p.Gly113=) n.451A>T | |
12 | g.120737115G>A | CA386614183 | ACADS | c.340G>A (p.Val114Ile) n.452G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737115G>C | CA386614184 | ACADS | c.340G>C (p.Val114Leu) n.452G>C | |
12 | g.120737115G= | CA2067553328 | ACADS | c.340G= (p.Val114=) n.452G= | |
12 | g.120737115G>T | CA386614185 | ACADS | c.340G>T (p.Val114Phe) n.452G>T | gnomAD v4 |
12 | g.120737116T>A | CA386614186 | ACADS | c.341T>A (p.Val114Asp) n.453T>A | |
12 | g.120737116T>C | CA6830830 | ACADS | c.341T>C (p.Val114Ala) n.453T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737116T>G | CA386614187 | ACADS | c.341T>G (p.Val114Gly) n.453T>G | |
12 | g.120737116T= | CA2067553330 | ACADS | c.341T= (p.Val114=) n.453T= | |
12 | g.120737117C>A | CA482146444 | ACADS | c.342C>A (p.Val114=) n.454C>A | gnomAD v4 |
12 | g.120737117C>G | CA482146445 | ACADS | c.342C>G (p.Val114=) n.454C>G | |
12 | g.120737117C>T | CA482146446 | ACADS | c.342C>T (p.Val114=) n.454C>T | gnomAD v4 |
12 | g.120737118A= | CA2067553331 | ACADS | c.343A= (p.Ile115=) n.455A= | |
12 | g.120737118A>C | CA386614190 | ACADS | c.343A>C (p.Ile115Leu) n.455A>C | |
12 | g.120737118A>G | CA386614189 | ACADS | c.343A>G (p.Ile115Val) n.455A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737118A>T | CA386614188 | ACADS | c.343A>T (p.Ile115Phe) n.455A>T | |
12 | g.120737118dup | CA952542809 | ACADS | c.343dup (p.Ile115AsnfsTer?) n.455dup | gnomAD v3 gnomAD v4 |
12 | g.120737119T>A | CA386614191 | ACADS | c.344T>A (p.Ile115Asn) n.456T>A | |
12 | g.120737119T>C | CA386614192 | ACADS | c.344T>C (p.Ile115Thr) n.456T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737119T>G | CA386614193 | ACADS | c.344T>G (p.Ile115Ser) n.456T>G | |
12 | g.120737119T= | CA2067553336 | ACADS | c.344T= (p.Ile115=) n.456T= |