UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75953563T>A | CA401065735 | ACOX1 | c.832A>T (p.Met278Leu) c.1006A>T (n.1006A>T) c.*321A>T (n.*321A>T) n.82A>T c.718A>T (p.Met240Leu) c.628A>T (p.Met210Leu) c.424A>T (p.Met142Leu) | |
| 17 | g.75953563T>C | CA115025 | ACOX1 | c.832A>G (p.Met278Val) c.1006A>G (n.1006A>G) c.*321A>G (n.*321A>G) n.82A>G c.718A>G (p.Met240Val) c.628A>G (p.Met210Val) c.424A>G (p.Met142Val) | ClinVar dbSNP |
| 17 | g.75953563T>G | CA401065731 | ACOX1 | c.832A>C (p.Met278Leu) c.1006A>C (n.1006A>C) c.*321A>C (n.*321A>C) n.82A>C c.718A>C (p.Met240Leu) c.628A>C (p.Met210Leu) c.424A>C (p.Met142Leu) | |
| 17 | g.75953563T= | CA2275763280 | ACOX1 | c.832A= (p.Met278=) c.1006A= (n.1006A=) c.*321A= (n.*321A=) n.82A= c.718A= (p.Met240=) c.628A= (p.Met210=) c.424A= (p.Met142=) | |
| 17 | g.75953564G>A | CA501856174 | ACOX1 | c.831C>T (p.Thr277=) c.1005C>T (n.1005C>T) c.*320C>T (n.*320C>T) n.81C>T c.717C>T (p.Thr239=) c.627C>T (p.Thr209=) c.423C>T (p.Thr141=) | |
| 17 | g.75953564G>C | CA501856175 | ACOX1 | c.831C>G (p.Thr277=) c.1005C>G (n.1005C>G) c.*320C>G (n.*320C>G) n.81C>G c.717C>G (p.Thr239=) c.627C>G (p.Thr209=) c.423C>G (p.Thr141=) | |
| 17 | g.75953564G>T | CA501856176 | ACOX1 | c.831C>A (p.Thr277=) c.1005C>A (n.1005C>A) c.*320C>A (n.*320C>A) n.81C>A c.717C>A (p.Thr239=) c.627C>A (p.Thr209=) c.423C>A (p.Thr141=) | |
| 17 | g.75953565G>A | CA401065738 | ACOX1 | c.830C>T (p.Thr277Ile) c.1004C>T (n.1004C>T) c.*319C>T (n.*319C>T) n.80C>T c.716C>T (p.Thr239Ile) c.626C>T (p.Thr209Ile) c.422C>T (p.Thr141Ile) | |
| 17 | g.75953565G>C | CA401065740 | ACOX1 | c.830C>G (p.Thr277Ser) c.1004C>G (n.1004C>G) c.*319C>G (n.*319C>G) n.80C>G c.716C>G (p.Thr239Ser) c.626C>G (p.Thr209Ser) c.422C>G (p.Thr141Ser) | |
| 17 | g.75953565G>T | CA401065742 | ACOX1 | c.830C>A (p.Thr277Asn) c.1004C>A (n.1004C>A) c.*319C>A (n.*319C>A) n.80C>A c.716C>A (p.Thr239Asn) c.626C>A (p.Thr209Asn) c.422C>A (p.Thr141Asn) | |
| 17 | g.75953566T>A | CA401065744 | ACOX1 | c.829A>T (p.Thr277Ser) c.1003A>T (n.1003A>T) c.*318A>T (n.*318A>T) n.79A>T c.715A>T (p.Thr239Ser) c.625A>T (p.Thr209Ser) c.421A>T (p.Thr141Ser) | |
| 17 | g.75953566T>C | CA401065747 | ACOX1 | c.829A>G (p.Thr277Ala) c.1003A>G (n.1003A>G) c.*318A>G (n.*318A>G) n.79A>G c.715A>G (p.Thr239Ala) c.625A>G (p.Thr209Ala) c.421A>G (p.Thr141Ala) | |
| 17 | g.75953566T>G | CA401065748 | ACOX1 | c.829A>C (p.Thr277Pro) c.1003A>C (n.1003A>C) c.*318A>C (n.*318A>C) n.79A>C c.715A>C (p.Thr239Pro) c.625A>C (p.Thr209Pro) c.421A>C (p.Thr141Pro) | |
| 17 | g.75953567C>A | CA501856180 | ACOX1 | c.828G>T (p.Gly276=) c.1002G>T (n.1002G>T) c.*317G>T (n.*317G>T) n.78G>T c.714G>T (p.Gly238=) c.624G>T (p.Gly208=) c.420G>T (p.Gly140=) | dbSNP |
| 17 | g.75953567C= | CA2275763281 | ACOX1 | c.828G= (p.Gly276=) c.1002G= (n.1002G=) c.*317G= (n.*317G=) n.78G= c.714G= (p.Gly238=) c.624G= (p.Gly208=) c.420G= (p.Gly140=) | |
| 17 | g.75953567C>G | CA501856181 | ACOX1 | c.828G>C (p.Gly276=) c.1002G>C (n.1002G>C) c.*317G>C (n.*317G>C) n.78G>C c.714G>C (p.Gly238=) c.624G>C (p.Gly208=) c.420G>C (p.Gly140=) | |
| 17 | g.75953567C>T | CA501856182 | ACOX1 | c.828G>A (p.Gly276=) c.1002G>A (n.1002G>A) c.*317G>A (n.*317G>A) n.78G>A c.714G>A (p.Gly238=) c.624G>A (p.Gly208=) c.420G>A (p.Gly140=) | |
| 17 | g.75953568C>A | CA401065750 | ACOX1 | c.827G>T (p.Gly276Val) c.1001G>T (n.1001G>T) c.*316G>T (n.*316G>T) n.77G>T c.713G>T (p.Gly238Val) c.623G>T (p.Gly208Val) c.419G>T (p.Gly140Val) | |
| 17 | g.75953568C>G | CA401065752 | ACOX1 | c.827G>C (p.Gly276Ala) c.1001G>C (n.1001G>C) c.*316G>C (n.*316G>C) n.77G>C c.713G>C (p.Gly238Ala) c.623G>C (p.Gly208Ala) c.419G>C (p.Gly140Ala) | |
| 17 | g.75953568C>T | CA401065755 | ACOX1 | c.827G>A (p.Gly276Glu) c.1001G>A (n.1001G>A) c.*316G>A (n.*316G>A) n.77G>A c.713G>A (p.Gly238Glu) c.623G>A (p.Gly208Glu) c.419G>A (p.Gly140Glu) | |
| 17 | g.75953569C>A | CA401065756 | ACOX1 | c.826G>T (p.Gly276Trp) c.1000G>T (n.1000G>T) c.*315G>T (n.*315G>T) n.76G>T c.712G>T (p.Gly238Trp) c.622G>T (p.Gly208Trp) c.418G>T (p.Gly140Trp) | |
| 17 | g.75953569C= | CA2275763282 | ACOX1 | c.826G= (p.Gly276=) c.1000G= (n.1000G=) c.*315G= (n.*315G=) n.76G= c.712G= (p.Gly238=) c.622G= (p.Gly208=) c.418G= (p.Gly140=) | |
| 17 | g.75953569C>G | CA401065758 | ACOX1 | c.826G>C (p.Gly276Arg) c.1000G>C (n.1000G>C) c.*315G>C (n.*315G>C) n.76G>C c.712G>C (p.Gly238Arg) c.622G>C (p.Gly208Arg) c.418G>C (p.Gly140Arg) | |
| 17 | g.75953569C>T | CA8776907 | ACOX1 | c.826G>A (p.Gly276Arg) c.1000G>A (n.1000G>A) c.*315G>A (n.*315G>A) n.76G>A c.712G>A (p.Gly238Arg) c.622G>A (p.Gly208Arg) c.418G>A (p.Gly140Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953570G>A | CA8776908 | ACOX1 | c.825C>T (p.Tyr275=) c.999C>T (n.999C>T) c.*314C>T (n.*314C>T) n.75C>T c.711C>T (p.Tyr237=) c.621C>T (p.Tyr207=) c.417C>T (p.Tyr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953570G>C | CA401065764 | ACOX1 | c.825C>G (p.Tyr275Ter) c.999C>G (n.999C>G) c.*314C>G (n.*314C>G) n.75C>G c.711C>G (p.Tyr237Ter) c.621C>G (p.Tyr207Ter) c.417C>G (p.Tyr139Ter) | gnomAD v4 |
| 17 | g.75953570G= | CA2275763283 | ACOX1 | c.825C= (p.Tyr275=) c.999C= (n.999C=) c.*314C= (n.*314C=) n.75C= c.711C= (p.Tyr237=) c.621C= (p.Tyr207=) c.417C= (p.Tyr139=) | |
| 17 | g.75953570G>T | CA401065761 | ACOX1 | c.825C>A (p.Tyr275Ter) c.999C>A (n.999C>A) c.*314C>A (n.*314C>A) n.75C>A c.711C>A (p.Tyr237Ter) c.621C>A (p.Tyr207Ter) c.417C>A (p.Tyr139Ter) | |
| 17 | g.75953571T>A | CA401065767 | ACOX1 | c.824A>T (p.Tyr275Phe) c.998A>T (n.998A>T) c.*313A>T (n.*313A>T) n.74A>T c.710A>T (p.Tyr237Phe) c.620A>T (p.Tyr207Phe) c.416A>T (p.Tyr139Phe) | |
| 17 | g.75953571T>C | CA401065771 | ACOX1 | c.824A>G (p.Tyr275Cys) c.998A>G (n.998A>G) c.*313A>G (n.*313A>G) n.74A>G c.710A>G (p.Tyr237Cys) c.620A>G (p.Tyr207Cys) c.416A>G (p.Tyr139Cys) | gnomAD v4 |
| 17 | g.75953571T>G | CA401065769 | ACOX1 | c.824A>C (p.Tyr275Ser) c.998A>C (n.998A>C) c.*313A>C (n.*313A>C) n.74A>C c.710A>C (p.Tyr237Ser) c.620A>C (p.Tyr207Ser) c.416A>C (p.Tyr139Ser) | |
| 17 | g.75953571dup | CA2639925605 | ACOX1 | c.824dup (p.Tyr275Ter) c.998dup (n.998dup) c.*313dup (n.*313dup) n.74dup c.710dup (p.Tyr237Ter) c.620dup (p.Tyr207Ter) c.416dup (p.Tyr139Ter) | gnomAD v4 |
| 17 | g.75953572A>C | CA401065774 | ACOX1 | c.823T>G (p.Tyr275Asp) c.997T>G (n.997T>G) c.*312T>G (n.*312T>G) n.73T>G c.709T>G (p.Tyr237Asp) c.619T>G (p.Tyr207Asp) c.415T>G (p.Tyr139Asp) | |
| 17 | g.75953572A>G | CA401065778 | ACOX1 | c.823T>C (p.Tyr275His) c.997T>C (n.997T>C) c.*312T>C (n.*312T>C) n.73T>C c.709T>C (p.Tyr237His) c.619T>C (p.Tyr207His) c.415T>C (p.Tyr139His) | |
| 17 | g.75953572A>T | CA401065780 | ACOX1 | c.823T>A (p.Tyr275Asn) c.997T>A (n.997T>A) c.*312T>A (n.*312T>A) n.73T>A c.709T>A (p.Tyr237Asn) c.619T>A (p.Tyr207Asn) c.415T>A (p.Tyr139Asn) | |
| 17 | g.75953573A>C | CA501856184 | ACOX1 | c.822T>G (p.Thr274=) c.996T>G (n.996T>G) c.*311T>G (n.*311T>G) n.72T>G c.708T>G (p.Thr236=) c.618T>G (p.Thr206=) c.414T>G (p.Thr138=) | |
| 17 | g.75953573A>G | CA501856185 | ACOX1 | c.822T>C (p.Thr274=) c.996T>C (n.996T>C) c.*311T>C (n.*311T>C) n.72T>C c.708T>C (p.Thr236=) c.618T>C (p.Thr206=) c.414T>C (p.Thr138=) | |
| 17 | g.75953573A>T | CA501856183 | ACOX1 | c.822T>A (p.Thr274=) c.996T>A (n.996T>A) c.*311T>A (n.*311T>A) n.72T>A c.708T>A (p.Thr236=) c.618T>A (p.Thr206=) c.414T>A (p.Thr138=) | |
| 17 | g.75953574G>A | CA8776909 | ACOX1 | c.821C>T (p.Thr274Ile) c.995C>T (n.995C>T) c.*310C>T (n.*310C>T) n.71C>T c.707C>T (p.Thr236Ile) c.617C>T (p.Thr206Ile) c.413C>T (p.Thr138Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75953574G>C | CA401065784 | ACOX1 | c.821C>G (p.Thr274Ser) c.995C>G (n.995C>G) c.*310C>G (n.*310C>G) n.71C>G c.707C>G (p.Thr236Ser) c.617C>G (p.Thr206Ser) c.413C>G (p.Thr138Ser) | |
| 17 | g.75953574G= | CA2275763284 | ACOX1 | c.821C= (p.Thr274=) c.995C= (n.995C=) c.*310C= (n.*310C=) n.71C= c.707C= (p.Thr236=) c.617C= (p.Thr206=) c.413C= (p.Thr138=) | |
| 17 | g.75953574G>T | CA401065786 | ACOX1 | c.821C>A (p.Thr274Asn) c.995C>A (n.995C>A) c.*310C>A (n.*310C>A) n.71C>A c.707C>A (p.Thr236Asn) c.617C>A (p.Thr206Asn) c.413C>A (p.Thr138Asn) | |
| 17 | g.75953575T>A | CA401065790 | ACOX1 | c.820A>T (p.Thr274Ser) c.994A>T (n.994A>T) c.*309A>T (n.*309A>T) n.70A>T c.706A>T (p.Thr236Ser) c.616A>T (p.Thr206Ser) c.412A>T (p.Thr138Ser) | |
| 17 | g.75953575T>C | CA401065791 | ACOX1 | c.820A>G (p.Thr274Ala) c.994A>G (n.994A>G) c.*309A>G (n.*309A>G) n.70A>G c.706A>G (p.Thr236Ala) c.616A>G (p.Thr206Ala) c.412A>G (p.Thr138Ala) | |
| 17 | g.75953575T>G | CA401065793 | ACOX1 | c.820A>C (p.Thr274Pro) c.994A>C (n.994A>C) c.*309A>C (n.*309A>C) n.70A>C c.706A>C (p.Thr236Pro) c.616A>C (p.Thr206Pro) c.412A>C (p.Thr138Pro) | |
| 17 | g.75953576C>A | CA501856188 | ACOX1 | c.819G>T (p.Leu273=) c.993G>T (n.993G>T) c.*308G>T (n.*308G>T) n.69G>T c.705G>T (p.Leu235=) c.615G>T (p.Leu205=) c.411G>T (p.Leu137=) | |
| 17 | g.75953576C>G | CA501856186 | ACOX1 | c.819G>C (p.Leu273=) c.993G>C (n.993G>C) c.*308G>C (n.*308G>C) n.69G>C c.705G>C (p.Leu235=) c.615G>C (p.Leu205=) c.411G>C (p.Leu137=) | |
| 17 | g.75953576C>T | CA501856187 | ACOX1 | c.819G>A (p.Leu273=) c.993G>A (n.993G>A) c.*308G>A (n.*308G>A) n.69G>A c.705G>A (p.Leu235=) c.615G>A (p.Leu205=) c.411G>A (p.Leu137=) | ClinVar dbSNP |
| 17 | g.75953577A= | CA2275763285 | ACOX1 | c.818T= (p.Leu273=) c.992T= (n.992T=) c.*307T= (n.*307T=) n.68T= c.704T= (p.Leu235=) c.614T= (p.Leu205=) c.410T= (p.Leu137=) | |
| 17 | g.75953577A>C | CA401065798 | ACOX1 | c.818T>G (p.Leu273Arg) c.992T>G (n.992T>G) c.*307T>G (n.*307T>G) n.68T>G c.704T>G (p.Leu235Arg) c.614T>G (p.Leu205Arg) c.410T>G (p.Leu137Arg) | |
| 17 | g.75953577A>G | CA294107054 | ACOX1 | c.818T>C (p.Leu273Pro) c.992T>C (n.992T>C) c.*307T>C (n.*307T>C) n.68T>C c.704T>C (p.Leu235Pro) c.614T>C (p.Leu205Pro) c.410T>C (p.Leu137Pro) | dbSNP |
| 17 | g.75953577A>T | CA401065803 | ACOX1 | c.818T>A (p.Leu273Gln) c.992T>A (n.992T>A) c.*307T>A (n.*307T>A) n.68T>A c.704T>A (p.Leu235Gln) c.614T>A (p.Leu205Gln) c.410T>A (p.Leu137Gln) | |
| 17 | g.75953578G>A | CA501856189 | ACOX1 | c.817C>T (p.Leu273=) c.991C>T (n.991C>T) c.*306C>T (n.*306C>T) n.67C>T c.703C>T (p.Leu235=) c.613C>T (p.Leu205=) c.409C>T (p.Leu137=) | |
| 17 | g.75953578G>C | CA401065809 | ACOX1 | c.817C>G (p.Leu273Val) c.991C>G (n.991C>G) c.*306C>G (n.*306C>G) n.67C>G c.703C>G (p.Leu235Val) c.613C>G (p.Leu205Val) c.409C>G (p.Leu137Val) | |
| 17 | g.75953578G>T | CA401065821 | ACOX1 | c.817C>A (p.Leu273Met) c.991C>A (n.991C>A) c.*306C>A (n.*306C>A) n.67C>A c.703C>A (p.Leu235Met) c.613C>A (p.Leu205Met) c.409C>A (p.Leu137Met) | |
| 17 | g.75953579C>A | CA401065822 | ACOX1 | c.816G>T (p.Lys272Asn) c.990G>T (n.990G>T) c.*305G>T (n.*305G>T) n.66G>T c.702G>T (p.Lys234Asn) c.612G>T (p.Lys204Asn) c.408G>T (p.Lys136Asn) | |
| 17 | g.75953579C>G | CA401065823 | ACOX1 | c.816G>C (p.Lys272Asn) c.990G>C (n.990G>C) c.*305G>C (n.*305G>C) n.66G>C c.702G>C (p.Lys234Asn) c.612G>C (p.Lys204Asn) c.408G>C (p.Lys136Asn) | |
| 17 | g.75953579C>T | CA501856190 | ACOX1 | c.816G>A (p.Lys272=) c.990G>A (n.990G>A) c.*305G>A (n.*305G>A) n.66G>A c.702G>A (p.Lys234=) c.612G>A (p.Lys204=) c.408G>A (p.Lys136=) | |
| 17 | g.75953580T>A | CA401065824 | ACOX1 | c.815A>T (p.Lys272Met) c.989A>T (n.989A>T) c.*304A>T (n.*304A>T) n.65A>T c.701A>T (p.Lys234Met) c.611A>T (p.Lys204Met) c.407A>T (p.Lys136Met) | |
| 17 | g.75953580T>C | CA401065825 | ACOX1 | c.815A>G (p.Lys272Arg) c.989A>G (n.989A>G) c.*304A>G (n.*304A>G) n.65A>G c.701A>G (p.Lys234Arg) c.611A>G (p.Lys204Arg) c.407A>G (p.Lys136Arg) | ClinVar |
| 17 | g.75953580T>G | CA401065826 | ACOX1 | c.815A>C (p.Lys272Thr) c.989A>C (n.989A>C) c.*304A>C (n.*304A>C) n.65A>C c.701A>C (p.Lys234Thr) c.611A>C (p.Lys204Thr) c.407A>C (p.Lys136Thr) | |
| 17 | g.75953581T>A | CA401065827 | ACOX1 | c.814A>T (p.Lys272Ter) c.988A>T (n.988A>T) c.*303A>T (n.*303A>T) n.64A>T c.700A>T (p.Lys234Ter) c.610A>T (p.Lys204Ter) c.406A>T (p.Lys136Ter) | |
| 17 | g.75953581T>C | CA401065828 | ACOX1 | c.814A>G (p.Lys272Glu) c.988A>G (n.988A>G) c.*303A>G (n.*303A>G) n.64A>G c.700A>G (p.Lys234Glu) c.610A>G (p.Lys204Glu) c.406A>G (p.Lys136Glu) | |
| 17 | g.75953581T>G | CA401065829 | ACOX1 | c.814A>C (p.Lys272Gln) c.988A>C (n.988A>C) c.*303A>C (n.*303A>C) n.64A>C c.700A>C (p.Lys234Gln) c.610A>C (p.Lys204Gln) c.406A>C (p.Lys136Gln) | |
| 17 | g.75953582G>A | CA501856191 | ACOX1 | c.813C>T (p.Asn271=) c.987C>T (n.987C>T) c.*302C>T (n.*302C>T) n.63C>T c.699C>T (p.Asn233=) c.609C>T (p.Asn203=) c.405C>T (p.Asn135=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75953582G>C | CA401065830 | ACOX1 | c.813C>G (p.Asn271Lys) c.987C>G (n.987C>G) c.*302C>G (n.*302C>G) n.63C>G c.699C>G (p.Asn233Lys) c.609C>G (p.Asn203Lys) c.405C>G (p.Asn135Lys) | |
| 17 | g.75953582G= | CA2275763286 | ACOX1 | c.813C= (p.Asn271=) c.987C= (n.987C=) c.*302C= (n.*302C=) n.63C= c.699C= (p.Asn233=) c.609C= (p.Asn203=) c.405C= (p.Asn135=) | |
| 17 | g.75953582G>T | CA401065831 | ACOX1 | c.813C>A (p.Asn271Lys) c.987C>A (n.987C>A) c.*302C>A (n.*302C>A) n.63C>A c.699C>A (p.Asn233Lys) c.609C>A (p.Asn203Lys) c.405C>A (p.Asn135Lys) | |
| 17 | g.75953583T>A | CA401065832 | ACOX1 | c.812A>T (p.Asn271Ile) c.986A>T (n.986A>T) c.*301A>T (n.*301A>T) n.62A>T c.698A>T (p.Asn233Ile) c.608A>T (p.Asn203Ile) c.404A>T (p.Asn135Ile) | |
| 17 | g.75953583T>C | CA401065833 | ACOX1 | c.812A>G (p.Asn271Ser) c.986A>G (n.986A>G) c.*301A>G (n.*301A>G) n.62A>G c.698A>G (p.Asn233Ser) c.608A>G (p.Asn203Ser) c.404A>G (p.Asn135Ser) | |
| 17 | g.75953583T>G | CA401065834 | ACOX1 | c.812A>C (p.Asn271Thr) c.986A>C (n.986A>C) c.*301A>C (n.*301A>C) n.62A>C c.698A>C (p.Asn233Thr) c.608A>C (p.Asn203Thr) c.404A>C (p.Asn135Thr) | |
| 17 | g.75953584del | CA2810456529 | ACOX1 | c.812del (p.Asn271ThrfsTer3) c.986del (n.986del) c.*301del (n.*301del) n.62del c.698del (p.Asn233ThrfsTer3) c.608del (p.Asn203ThrfsTer3) c.404del (p.Asn135ThrfsTer3) | |
| 17 | g.75953584T>A | CA401065835 | ACOX1 | c.811A>T (p.Asn271Tyr) c.985A>T (n.985A>T) c.*300A>T (n.*300A>T) n.61A>T c.697A>T (p.Asn233Tyr) c.607A>T (p.Asn203Tyr) c.403A>T (p.Asn135Tyr) | |
| 17 | g.75953584T>C | CA401065837 | ACOX1 | c.811A>G (p.Asn271Asp) c.985A>G (n.985A>G) c.*300A>G (n.*300A>G) n.61A>G c.697A>G (p.Asn233Asp) c.607A>G (p.Asn203Asp) c.403A>G (p.Asn135Asp) | COSMIC COSMIC |
| 17 | g.75953584T>G | CA401065836 | ACOX1 | c.811A>C (p.Asn271His) c.985A>C (n.985A>C) c.*300A>C (n.*300A>C) n.61A>C c.697A>C (p.Asn233His) c.607A>C (p.Asn203His) c.403A>C (p.Asn135His) | |
| 17 | g.75953585A>C | CA401065838 | ACOX1 | c.810T>G (p.Ser270Arg) c.984T>G (n.984T>G) c.*299T>G (n.*299T>G) n.60T>G c.696T>G (p.Ser232Arg) c.606T>G (p.Ser202Arg) c.402T>G (p.Ser134Arg) | |
| 17 | g.75953585A>G | CA501856192 | ACOX1 | c.810T>C (p.Ser270=) c.984T>C (n.984T>C) c.*299T>C (n.*299T>C) n.60T>C c.696T>C (p.Ser232=) c.606T>C (p.Ser202=) c.402T>C (p.Ser134=) | |
| 17 | g.75953585A>T | CA401065839 | ACOX1 | c.810T>A (p.Ser270Arg) c.984T>A (n.984T>A) c.*299T>A (n.*299T>A) n.60T>A c.696T>A (p.Ser232Arg) c.606T>A (p.Ser202Arg) c.402T>A (p.Ser134Arg) | |
| 17 | g.75953586C>A | CA401065840 | ACOX1 | c.809G>T (p.Ser270Ile) c.983G>T (n.983G>T) c.*298G>T (n.*298G>T) n.59G>T c.695G>T (p.Ser232Ile) c.605G>T (p.Ser202Ile) c.401G>T (p.Ser134Ile) | |
| 17 | g.75953586C= | CA2275763287 | ACOX1 | c.809G= (p.Ser270=) c.983G= (n.983G=) c.*298G= (n.*298G=) n.59G= c.695G= (p.Ser232=) c.605G= (p.Ser202=) c.401G= (p.Ser134=) | |
| 17 | g.75953586C>G | CA401065841 | ACOX1 | c.809G>C (p.Ser270Thr) c.983G>C (n.983G>C) c.*298G>C (n.*298G>C) n.59G>C c.695G>C (p.Ser232Thr) c.605G>C (p.Ser202Thr) c.401G>C (p.Ser134Thr) | |
| 17 | g.75953586C>T | CA8776910 | ACOX1 | c.809G>A (p.Ser270Asn) c.983G>A (n.983G>A) c.*298G>A (n.*298G>A) n.59G>A c.695G>A (p.Ser232Asn) c.605G>A (p.Ser202Asn) c.401G>A (p.Ser134Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953587T>A | CA401065842 | ACOX1 | c.808A>T (p.Ser270Cys) c.982A>T (n.982A>T) c.*297A>T (n.*297A>T) n.58A>T c.694A>T (p.Ser232Cys) c.604A>T (p.Ser202Cys) c.400A>T (p.Ser134Cys) | gnomAD v4 |
| 17 | g.75953587T>C | CA401065843 | ACOX1 | c.808A>G (p.Ser270Gly) c.982A>G (n.982A>G) c.*297A>G (n.*297A>G) n.58A>G c.694A>G (p.Ser232Gly) c.604A>G (p.Ser202Gly) c.400A>G (p.Ser134Gly) | |
| 17 | g.75953587T>G | CA401065844 | ACOX1 | c.808A>C (p.Ser270Arg) c.982A>C (n.982A>C) c.*297A>C (n.*297A>C) n.58A>C c.694A>C (p.Ser232Arg) c.604A>C (p.Ser202Arg) c.400A>C (p.Ser134Arg) | |
| 17 | g.75953588C>A | CA501856193 | ACOX1 | c.807G>T (p.Leu269=) c.981G>T (n.981G>T) c.*296G>T (n.*296G>T) n.57G>T c.693G>T (p.Leu231=) c.603G>T (p.Leu201=) c.399G>T (p.Leu133=) | |
| 17 | g.75953588C= | CA2275763288 | ACOX1 | c.807G= (p.Leu269=) c.981G= (n.981G=) c.*296G= (n.*296G=) n.57G= c.693G= (p.Leu231=) c.603G= (p.Leu201=) c.399G= (p.Leu133=) | |
| 17 | g.75953588C>G | CA501856194 | ACOX1 | c.807G>C (p.Leu269=) c.981G>C (n.981G>C) c.*296G>C (n.*296G>C) n.57G>C c.693G>C (p.Leu231=) c.603G>C (p.Leu201=) c.399G>C (p.Leu133=) | |
| 17 | g.75953588C>T | CA8776911 | ACOX1 | c.807G>A (p.Leu269=) c.981G>A (n.981G>A) c.*296G>A (n.*296G>A) n.57G>A c.693G>A (p.Leu231=) c.603G>A (p.Leu201=) c.399G>A (p.Leu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75953589A>C | CA401065845 | ACOX1 | c.806T>G (p.Leu269Arg) c.980T>G (n.980T>G) c.*295T>G (n.*295T>G) n.56T>G c.692T>G (p.Leu231Arg) c.602T>G (p.Leu201Arg) c.398T>G (p.Leu133Arg) | |
| 17 | g.75953589A>G | CA401065846 | ACOX1 | c.806T>C (p.Leu269Pro) c.980T>C (n.980T>C) c.*295T>C (n.*295T>C) n.56T>C c.692T>C (p.Leu231Pro) c.602T>C (p.Leu201Pro) c.398T>C (p.Leu133Pro) | |
| 17 | g.75953589A>T | CA401065847 | ACOX1 | c.806T>A (p.Leu269Gln) c.980T>A (n.980T>A) c.*295T>A (n.*295T>A) n.56T>A c.692T>A (p.Leu231Gln) c.602T>A (p.Leu201Gln) c.398T>A (p.Leu133Gln) | COSMIC COSMIC |
| 17 | g.75953590G>A | CA501856195 | ACOX1 | c.805C>T (p.Leu269=) c.979C>T (n.979C>T) c.*294C>T (n.*294C>T) n.55C>T c.691C>T (p.Leu231=) c.601C>T (p.Leu201=) c.397C>T (p.Leu133=) | |
| 17 | g.75953590G>C | CA401065849 | ACOX1 | c.805C>G (p.Leu269Val) c.979C>G (n.979C>G) c.*294C>G (n.*294C>G) n.55C>G c.691C>G (p.Leu231Val) c.601C>G (p.Leu201Val) c.397C>G (p.Leu133Val) | |
| 17 | g.75953590G>T | CA401065848 | ACOX1 | c.805C>A (p.Leu269Met) c.979C>A (n.979C>A) c.*294C>A (n.*294C>A) n.55C>A c.691C>A (p.Leu231Met) c.601C>A (p.Leu201Met) c.397C>A (p.Leu133Met) | |
| 17 | g.75953591C>A | CA501856196 | ACOX1 | c.804G>T (p.Pro268=) c.978G>T (n.978G>T) c.*293G>T (n.*293G>T) n.54G>T c.690G>T (p.Pro230=) c.600G>T (p.Pro200=) c.396G>T (p.Pro132=) | ClinVar |
| 17 | g.75953591C= | CA2275763289 | ACOX1 | c.804G= (p.Pro268=) c.978G= (n.978G=) c.*293G= (n.*293G=) n.54G= c.690G= (p.Pro230=) c.600G= (p.Pro200=) c.396G= (p.Pro132=) | |
| 17 | g.75953591C>G | CA501856197 | ACOX1 | c.804G>C (p.Pro268=) c.978G>C (n.978G>C) c.*293G>C (n.*293G>C) n.54G>C c.690G>C (p.Pro230=) c.600G>C (p.Pro200=) c.396G>C (p.Pro132=) | |
| 17 | g.75953591C>T | CA8776912 | ACOX1 | c.804G>A (p.Pro268=) c.978G>A (n.978G>A) c.*293G>A (n.*293G>A) n.54G>A c.690G>A (p.Pro230=) c.600G>A (p.Pro200=) c.396G>A (p.Pro132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953592G>A | CA401065856 | ACOX1 | c.803C>T (p.Pro268Leu) c.977C>T (n.977C>T) c.*292C>T (n.*292C>T) n.53C>T c.689C>T (p.Pro230Leu) c.599C>T (p.Pro200Leu) c.395C>T (p.Pro132Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.75953592G>C | CA401065870 | ACOX1 | c.803C>G (p.Pro268Arg) c.977C>G (n.977C>G) c.*292C>G (n.*292C>G) n.53C>G c.689C>G (p.Pro230Arg) c.599C>G (p.Pro200Arg) c.395C>G (p.Pro132Arg) | |
| 17 | g.75953592G= | CA2275763290 | ACOX1 | c.803C= (p.Pro268=) c.977C= (n.977C=) c.*292C= (n.*292C=) n.53C= c.689C= (p.Pro230=) c.599C= (p.Pro200=) c.395C= (p.Pro132=) | |
| 17 | g.75953592G>T | CA401065877 | ACOX1 | c.803C>A (p.Pro268Gln) c.977C>A (n.977C>A) c.*292C>A (n.*292C>A) n.53C>A c.689C>A (p.Pro230Gln) c.599C>A (p.Pro200Gln) c.395C>A (p.Pro132Gln) | |
| 17 | g.75953593G>A | CA401065881 | ACOX1 | c.802C>T (p.Pro268Ser) c.976C>T (n.976C>T) c.*291C>T (n.*291C>T) n.52C>T c.688C>T (p.Pro230Ser) c.598C>T (p.Pro200Ser) c.394C>T (p.Pro132Ser) | dbSNP gnomAD v4 |
| 17 | g.75953593G>C | CA401065884 | ACOX1 | c.802C>G (p.Pro268Ala) c.976C>G (n.976C>G) c.*291C>G (n.*291C>G) n.52C>G c.688C>G (p.Pro230Ala) c.598C>G (p.Pro200Ala) c.394C>G (p.Pro132Ala) | |
| 17 | g.75953593G= | CA2275763291 | ACOX1 | c.802C= (p.Pro268=) c.976C= (n.976C=) c.*291C= (n.*291C=) n.52C= c.688C= (p.Pro230=) c.598C= (p.Pro200=) c.394C= (p.Pro132=) | |
| 17 | g.75953593G>T | CA401065889 | ACOX1 | c.802C>A (p.Pro268Thr) c.976C>A (n.976C>A) c.*291C>A (n.*291C>A) n.52C>A c.688C>A (p.Pro230Thr) c.598C>A (p.Pro200Thr) c.394C>A (p.Pro132Thr) | |
| 17 | g.75953594T>A | CA401065896 | ACOX1 | c.801A>T (p.Lys267Asn) c.975A>T (n.975A>T) c.*290A>T (n.*290A>T) n.51A>T c.687A>T (p.Lys229Asn) c.597A>T (p.Lys199Asn) c.393A>T (p.Lys131Asn) | |
| 17 | g.75953594T>C | CA501856198 | ACOX1 | c.801A>G (p.Lys267=) c.975A>G (n.975A>G) c.*290A>G (n.*290A>G) n.51A>G c.687A>G (p.Lys229=) c.597A>G (p.Lys199=) c.393A>G (p.Lys131=) | |
| 17 | g.75953594T>G | CA401065900 | ACOX1 | c.801A>C (p.Lys267Asn) c.975A>C (n.975A>C) c.*290A>C (n.*290A>C) n.51A>C c.687A>C (p.Lys229Asn) c.597A>C (p.Lys199Asn) c.393A>C (p.Lys131Asn) | |
| 17 | g.75953595T>A | CA401065902 | ACOX1 | c.800A>T (p.Lys267Ile) c.974A>T (n.974A>T) c.*289A>T (n.*289A>T) n.50A>T c.686A>T (p.Lys229Ile) c.596A>T (p.Lys199Ile) c.392A>T (p.Lys131Ile) | |
| 17 | g.75953595T>C | CA401065904 | ACOX1 | c.800A>G (p.Lys267Arg) c.974A>G (n.974A>G) c.*289A>G (n.*289A>G) n.50A>G c.686A>G (p.Lys229Arg) c.596A>G (p.Lys199Arg) c.392A>G (p.Lys131Arg) | |
| 17 | g.75953595T>G | CA401065905 | ACOX1 | c.800A>C (p.Lys267Thr) c.974A>C (n.974A>C) c.*289A>C (n.*289A>C) n.50A>C c.686A>C (p.Lys229Thr) c.596A>C (p.Lys199Thr) c.392A>C (p.Lys131Thr) | gnomAD v4 |
| 17 | g.75953596T>A | CA401065910 | ACOX1 | c.799A>T (p.Lys267Ter) c.973A>T (n.973A>T) c.*288A>T (n.*288A>T) n.49A>T c.685A>T (p.Lys229Ter) c.595A>T (p.Lys199Ter) c.391A>T (p.Lys131Ter) | |
| 17 | g.75953596T>C | CA401065908 | ACOX1 | c.799A>G (p.Lys267Glu) c.973A>G (n.973A>G) c.*288A>G (n.*288A>G) n.49A>G c.685A>G (p.Lys229Glu) c.595A>G (p.Lys199Glu) c.391A>G (p.Lys131Glu) | |
| 17 | g.75953596T>G | CA401065907 | ACOX1 | c.799A>C (p.Lys267Gln) c.973A>C (n.973A>C) c.*288A>C (n.*288A>C) n.49A>C c.685A>C (p.Lys229Gln) c.595A>C (p.Lys199Gln) c.391A>C (p.Lys131Gln) | |
| 17 | g.75953597C>A | CA501856199 | ACOX1 | c.798G>T (p.Val266=) c.972G>T (n.972G>T) c.*287G>T (n.*287G>T) n.48G>T c.684G>T (p.Val228=) c.594G>T (p.Val198=) c.390G>T (p.Val130=) | |
| 17 | g.75953597C>G | CA501856201 | ACOX1 | c.798G>C (p.Val266=) c.972G>C (n.972G>C) c.*287G>C (n.*287G>C) n.48G>C c.684G>C (p.Val228=) c.594G>C (p.Val198=) c.390G>C (p.Val130=) | |
| 17 | g.75953597C>T | CA501856200 | ACOX1 | c.798G>A (p.Val266=) c.972G>A (n.972G>A) c.*287G>A (n.*287G>A) n.48G>A c.684G>A (p.Val228=) c.594G>A (p.Val198=) c.390G>A (p.Val130=) | |
| 17 | g.75953598A>C | CA401065912 | ACOX1 | c.797T>G (p.Val266Gly) c.971T>G (n.971T>G) c.*286T>G (n.*286T>G) n.47T>G c.683T>G (p.Val228Gly) c.593T>G (p.Val198Gly) c.389T>G (p.Val130Gly) | |
| 17 | g.75953598A>G | CA401065918 | ACOX1 | c.797T>C (p.Val266Ala) c.971T>C (n.971T>C) c.*286T>C (n.*286T>C) n.47T>C c.683T>C (p.Val228Ala) c.593T>C (p.Val198Ala) c.389T>C (p.Val130Ala) | |
| 17 | g.75953598A>T | CA401065915 | ACOX1 | c.797T>A (p.Val266Glu) c.971T>A (n.971T>A) c.*286T>A (n.*286T>A) n.47T>A c.683T>A (p.Val228Glu) c.593T>A (p.Val198Glu) c.389T>A (p.Val130Glu) | |
| 17 | g.75953599C>A | CA401065920 | ACOX1 | c.796G>T (p.Val266Leu) c.970G>T (n.970G>T) c.*285G>T (n.*285G>T) n.46G>T c.682G>T (p.Val228Leu) c.592G>T (p.Val198Leu) c.388G>T (p.Val130Leu) | |
| 17 | g.75953599C= | CA2275763292 | ACOX1 | c.796G= (p.Val266=) c.970G= (n.970G=) c.*285G= (n.*285G=) n.46G= c.682G= (p.Val228=) c.592G= (p.Val198=) c.388G= (p.Val130=) | |
| 17 | g.75953599C>G | CA401065931 | ACOX1 | c.796G>C (p.Val266Leu) c.970G>C (n.970G>C) c.*285G>C (n.*285G>C) n.46G>C c.682G>C (p.Val228Leu) c.592G>C (p.Val198Leu) c.388G>C (p.Val130Leu) | |
| 17 | g.75953599C>T | CA8776913 | ACOX1 | c.796G>A (p.Val266Met) c.970G>A (n.970G>A) c.*285G>A (n.*285G>A) n.46G>A c.682G>A (p.Val228Met) c.592G>A (p.Val198Met) c.388G>A (p.Val130Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953600del | CA2639925607 | ACOX1 | c.795del (p.Tyr265Ter) c.969del (n.969del) c.*284del (n.*284del) n.45del c.681del (p.Tyr227Ter) c.591del (p.Tyr197Ter) c.387del (p.Tyr129Ter) | gnomAD v4 |
| 17 | g.75953600G>A | CA8776914 | ACOX1 | c.795C>T (p.Tyr265=) c.969C>T (n.969C>T) c.*284C>T (n.*284C>T) n.45C>T c.681C>T (p.Tyr227=) c.591C>T (p.Tyr197=) c.387C>T (p.Tyr129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.75953600G>C | CA401065933 | ACOX1 | c.795C>G (p.Tyr265Ter) c.969C>G (n.969C>G) c.*284C>G (n.*284C>G) n.45C>G c.681C>G (p.Tyr227Ter) c.591C>G (p.Tyr197Ter) c.387C>G (p.Tyr129Ter) | |
| 17 | g.75953600G= | CA2275763293 | ACOX1 | c.795C= (p.Tyr265=) c.969C= (n.969C=) c.*284C= (n.*284C=) n.45C= c.681C= (p.Tyr227=) c.591C= (p.Tyr197=) c.387C= (p.Tyr129=) | |
| 17 | g.75953600G>T | CA401065937 | ACOX1 | c.795C>A (p.Tyr265Ter) c.969C>A (n.969C>A) c.*284C>A (n.*284C>A) n.45C>A c.681C>A (p.Tyr227Ter) c.591C>A (p.Tyr197Ter) c.387C>A (p.Tyr129Ter) | ClinVar |
| 17 | g.75953601T>A | CA401065948 | ACOX1 | c.794A>T (p.Tyr265Phe) c.968A>T (n.968A>T) c.*283A>T (n.*283A>T) n.44A>T c.680A>T (p.Tyr227Phe) c.590A>T (p.Tyr197Phe) c.386A>T (p.Tyr129Phe) | |
| 17 | g.75953601T>C | CA401065952 | ACOX1 | c.794A>G (p.Tyr265Cys) c.968A>G (n.968A>G) c.*283A>G (n.*283A>G) n.44A>G c.680A>G (p.Tyr227Cys) c.590A>G (p.Tyr197Cys) c.386A>G (p.Tyr129Cys) | |
| 17 | g.75953601T>G | CA401065963 | ACOX1 | c.794A>C (p.Tyr265Ser) c.968A>C (n.968A>C) c.*283A>C (n.*283A>C) n.44A>C c.680A>C (p.Tyr227Ser) c.590A>C (p.Tyr197Ser) c.386A>C (p.Tyr129Ser) | |
| 17 | g.75953602A>C | CA401065971 | ACOX1 | c.793T>G (p.Tyr265Asp) c.967T>G (n.967T>G) c.*282T>G (n.*282T>G) n.43T>G c.679T>G (p.Tyr227Asp) c.589T>G (p.Tyr197Asp) c.385T>G (p.Tyr129Asp) | |
| 17 | g.75953602A>G | CA401065973 | ACOX1 | c.793T>C (p.Tyr265His) c.967T>C (n.967T>C) c.*282T>C (n.*282T>C) n.43T>C c.679T>C (p.Tyr227His) c.589T>C (p.Tyr197His) c.385T>C (p.Tyr129His) | |
| 17 | g.75953602A>T | CA401065976 | ACOX1 | c.793T>A (p.Tyr265Asn) c.967T>A (n.967T>A) c.*282T>A (n.*282T>A) n.43T>A c.679T>A (p.Tyr227Asn) c.589T>A (p.Tyr197Asn) c.385T>A (p.Tyr129Asn) | |
| 17 | g.75953603T>A | CA501856202 | ACOX1 | c.792A>T (p.Thr264=) c.966A>T (n.966A>T) c.*281A>T (n.*281A>T) n.42A>T c.678A>T (p.Thr226=) c.588A>T (p.Thr196=) c.384A>T (p.Thr128=) | |
| 17 | g.75953603T>C | CA294107063 | ACOX1 | c.792A>G (p.Thr264=) c.966A>G (n.966A>G) c.*281A>G (n.*281A>G) n.42A>G c.678A>G (p.Thr226=) c.588A>G (p.Thr196=) c.384A>G (p.Thr128=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75953603T>G | CA501856203 | ACOX1 | c.792A>C (p.Thr264=) c.966A>C (n.966A>C) c.*281A>C (n.*281A>C) n.42A>C c.678A>C (p.Thr226=) c.588A>C (p.Thr196=) c.384A>C (p.Thr128=) | ClinVar |
| 17 | g.75953603T= | CA2275763294 | ACOX1 | c.792A= (p.Thr264=) c.966A= (n.966A=) c.*281A= (n.*281A=) n.42A= c.678A= (p.Thr226=) c.588A= (p.Thr196=) c.384A= (p.Thr128=) | |
| 17 | g.75953604G>A | CA401065988 | ACOX1 | c.791C>T (p.Thr264Ile) c.965C>T (n.965C>T) c.*280C>T (n.*280C>T) n.41C>T c.677C>T (p.Thr226Ile) c.587C>T (p.Thr196Ile) c.383C>T (p.Thr128Ile) | |
| 17 | g.75953604G>C | CA401065986 | ACOX1 | c.791C>G (p.Thr264Arg) c.965C>G (n.965C>G) c.*280C>G (n.*280C>G) n.41C>G c.677C>G (p.Thr226Arg) c.587C>G (p.Thr196Arg) c.383C>G (p.Thr128Arg) | |
| 17 | g.75953604G>T | CA401065984 | ACOX1 | c.791C>A (p.Thr264Lys) c.965C>A (n.965C>A) c.*280C>A (n.*280C>A) n.41C>A c.677C>A (p.Thr226Lys) c.587C>A (p.Thr196Lys) c.383C>A (p.Thr128Lys) | |
| 17 | g.75953605T>A | CA401065990 | ACOX1 | c.790A>T (p.Thr264Ser) c.964A>T (n.964A>T) c.*279A>T (n.*279A>T) n.40A>T c.676A>T (p.Thr226Ser) c.586A>T (p.Thr196Ser) c.382A>T (p.Thr128Ser) | |
| 17 | g.75953605T>C | CA401065991 | ACOX1 | c.790A>G (p.Thr264Ala) c.964A>G (n.964A>G) c.*279A>G (n.*279A>G) n.40A>G c.676A>G (p.Thr226Ala) c.586A>G (p.Thr196Ala) c.382A>G (p.Thr128Ala) | |
| 17 | g.75953605T>G | CA401065993 | ACOX1 | c.790A>C (p.Thr264Pro) c.964A>C (n.964A>C) c.*279A>C (n.*279A>C) n.40A>C c.676A>C (p.Thr226Pro) c.586A>C (p.Thr196Pro) c.382A>C (p.Thr128Pro) | |
| 17 | g.75953606G>A | CA501856205 | ACOX1 | c.789C>T (p.Gly263=) c.963C>T (n.963C>T) c.*278C>T (n.*278C>T) n.39C>T c.675C>T (p.Gly225=) c.585C>T (p.Gly195=) c.381C>T (p.Gly127=) | gnomAD v4 COSMIC COSMIC |
| 17 | g.75953606G>C | CA501856206 | ACOX1 | c.789C>G (p.Gly263=) c.963C>G (n.963C>G) c.*278C>G (n.*278C>G) n.39C>G c.675C>G (p.Gly225=) c.585C>G (p.Gly195=) c.381C>G (p.Gly127=) | |
| 17 | g.75953606G>T | CA501856204 | ACOX1 | c.789C>A (p.Gly263=) c.963C>A (n.963C>A) c.*278C>A (n.*278C>A) n.39C>A c.675C>A (p.Gly225=) c.585C>A (p.Gly195=) c.381C>A (p.Gly127=) | |
| 17 | g.75953607C>A | CA401065995 | ACOX1 | c.788G>T (p.Gly263Val) c.962G>T (n.962G>T) c.*277G>T (n.*277G>T) n.38G>T c.674G>T (p.Gly225Val) c.584G>T (p.Gly195Val) c.380G>T (p.Gly127Val) | |
| 17 | g.75953607C= | CA2275763295 | ACOX1 | c.788G= (p.Gly263=) c.962G= (n.962G=) c.*277G= (n.*277G=) n.38G= c.674G= (p.Gly225=) c.584G= (p.Gly195=) c.380G= (p.Gly127=) | |
| 17 | g.75953607C>G | CA8776915 | ACOX1 | c.788G>C (p.Gly263Ala) c.962G>C (n.962G>C) c.*277G>C (n.*277G>C) n.38G>C c.674G>C (p.Gly225Ala) c.584G>C (p.Gly195Ala) c.380G>C (p.Gly127Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953607C>T | CA401066008 | ACOX1 | c.788G>A (p.Gly263Asp) c.962G>A (n.962G>A) c.*277G>A (n.*277G>A) n.38G>A c.674G>A (p.Gly225Asp) c.584G>A (p.Gly195Asp) c.380G>A (p.Gly127Asp) | gnomAD v4 |
| 17 | g.75953608C>A | CA401066009 | ACOX1 | c.787G>T (p.Gly263Cys) c.961G>T (n.961G>T) c.*276G>T (n.*276G>T) n.37G>T c.673G>T (p.Gly225Cys) c.583G>T (p.Gly195Cys) c.379G>T (p.Gly127Cys) | |
| 17 | g.75953608C= | CA2275763296 | ACOX1 | c.787G= (p.Gly263=) c.961G= (n.961G=) c.*276G= (n.*276G=) n.37G= c.673G= (p.Gly225=) c.583G= (p.Gly195=) c.379G= (p.Gly127=) | |
| 17 | g.75953608C>G | CA401066010 | ACOX1 | c.787G>C (p.Gly263Arg) c.961G>C (n.961G>C) c.*276G>C (n.*276G>C) n.37G>C c.673G>C (p.Gly225Arg) c.583G>C (p.Gly195Arg) c.379G>C (p.Gly127Arg) | |
| 17 | g.75953608C>T | CA8776916 | ACOX1 | c.787G>A (p.Gly263Ser) c.961G>A (n.961G>A) c.*276G>A (n.*276G>A) n.37G>A c.673G>A (p.Gly225Ser) c.583G>A (p.Gly195Ser) c.379G>A (p.Gly127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75953609A>C | CA401066011 | ACOX1 | c.786T>G (p.Asp262Glu) c.960T>G (n.960T>G) c.*275T>G (n.*275T>G) n.36T>G c.672T>G (p.Asp224Glu) c.582T>G (p.Asp194Glu) c.378T>G (p.Asp126Glu) | |
| 17 | g.75953609A>G | CA501856207 | ACOX1 | c.786T>C (p.Asp262=) c.960T>C (n.960T>C) c.*275T>C (n.*275T>C) n.36T>C c.672T>C (p.Asp224=) c.582T>C (p.Asp194=) c.378T>C (p.Asp126=) | |
| 17 | g.75953609A>T | CA401066012 | ACOX1 | c.786T>A (p.Asp262Glu) c.960T>A (n.960T>A) c.*275T>A (n.*275T>A) n.36T>A c.672T>A (p.Asp224Glu) c.582T>A (p.Asp194Glu) c.378T>A (p.Asp126Glu) | |
| 17 | g.75953610T>A | CA401066014 | ACOX1 | c.785A>T (p.Asp262Val) c.959A>T (n.959A>T) c.*274A>T (n.*274A>T) n.35A>T c.671A>T (p.Asp224Val) c.581A>T (p.Asp194Val) c.377A>T (p.Asp126Val) | |
| 17 | g.75953610T>C | CA401066015 | ACOX1 | c.785A>G (p.Asp262Gly) c.959A>G (n.959A>G) c.*274A>G (n.*274A>G) n.35A>G c.671A>G (p.Asp224Gly) c.581A>G (p.Asp194Gly) c.377A>G (p.Asp126Gly) | |
| 17 | g.75953610T>G | CA401066013 | ACOX1 | c.785A>C (p.Asp262Ala) c.959A>C (n.959A>C) c.*274A>C (n.*274A>C) n.35A>C c.671A>C (p.Asp224Ala) c.581A>C (p.Asp194Ala) c.377A>C (p.Asp126Ala) | |
| 17 | g.75953611C>A | CA401066016 | ACOX1 | c.784G>T (p.Asp262Tyr) c.958G>T (n.958G>T) c.*273G>T (n.*273G>T) n.34G>T c.670G>T (p.Asp224Tyr) c.580G>T (p.Asp194Tyr) c.376G>T (p.Asp126Tyr) | |
| 17 | g.75953611C>G | CA401066017 | ACOX1 | c.784G>C (p.Asp262His) c.958G>C (n.958G>C) c.*273G>C (n.*273G>C) n.34G>C c.670G>C (p.Asp224His) c.580G>C (p.Asp194His) c.376G>C (p.Asp126His) | |
| 17 | g.75953611C>T | CA401066018 | ACOX1 | c.784G>A (p.Asp262Asn) c.958G>A (n.958G>A) c.*273G>A (n.*273G>A) n.34G>A c.670G>A (p.Asp224Asn) c.580G>A (p.Asp194Asn) c.376G>A (p.Asp126Asn) | gnomAD v4 |
| 17 | g.75953612A>C | CA501856208 | ACOX1 | c.783T>G (p.Pro261=) c.957T>G (n.957T>G) c.*272T>G (n.*272T>G) n.33T>G c.669T>G (p.Pro223=) c.579T>G (p.Pro193=) c.375T>G (p.Pro125=) | |
| 17 | g.75953612A>G | CA501856209 | ACOX1 | c.783T>C (p.Pro261=) c.957T>C (n.957T>C) c.*272T>C (n.*272T>C) n.33T>C c.669T>C (p.Pro223=) c.579T>C (p.Pro193=) c.375T>C (p.Pro125=) | |
| 17 | g.75953612A>T | CA501856210 | ACOX1 | c.783T>A (p.Pro261=) c.957T>A (n.957T>A) c.*272T>A (n.*272T>A) n.33T>A c.669T>A (p.Pro223=) c.579T>A (p.Pro193=) c.375T>A (p.Pro125=) | |
| 17 | g.75953613G>A | CA294107066 | ACOX1 | c.782C>T (p.Pro261Leu) c.956C>T (n.956C>T) c.*271C>T (n.*271C>T) n.32C>T c.668C>T (p.Pro223Leu) c.578C>T (p.Pro193Leu) c.374C>T (p.Pro125Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953613G>C | CA401066019 | ACOX1 | c.782C>G (p.Pro261Arg) c.956C>G (n.956C>G) c.*271C>G (n.*271C>G) n.32C>G c.668C>G (p.Pro223Arg) c.578C>G (p.Pro193Arg) c.374C>G (p.Pro125Arg) | |
| 17 | g.75953613G= | CA2275763297 | ACOX1 | c.782C= (p.Pro261=) c.956C= (n.956C=) c.*271C= (n.*271C=) n.32C= c.668C= (p.Pro223=) c.578C= (p.Pro193=) c.374C= (p.Pro125=) | |
| 17 | g.75953613G>T | CA401066020 | ACOX1 | c.782C>A (p.Pro261His) c.956C>A (n.956C>A) c.*271C>A (n.*271C>A) n.32C>A c.668C>A (p.Pro223His) c.578C>A (p.Pro193His) c.374C>A (p.Pro125His) | |
| 17 | g.75953614G>A | CA401066026 | ACOX1 | c.781C>T (p.Pro261Ser) c.955C>T (n.955C>T) c.*270C>T (n.*270C>T) n.31C>T c.667C>T (p.Pro223Ser) c.577C>T (p.Pro193Ser) c.373C>T (p.Pro125Ser) | |
| 17 | g.75953614G>C | CA401066021 | ACOX1 | c.781C>G (p.Pro261Ala) c.955C>G (n.955C>G) c.*270C>G (n.*270C>G) n.31C>G c.667C>G (p.Pro223Ala) c.577C>G (p.Pro193Ala) c.373C>G (p.Pro125Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.75953614G= | CA2275763298 | ACOX1 | c.781C= (p.Pro261=) c.955C= (n.955C=) c.*270C= (n.*270C=) n.31C= c.667C= (p.Pro223=) c.577C= (p.Pro193=) c.373C= (p.Pro125=) | |
| 17 | g.75953614G>T | CA401066022 | ACOX1 | c.781C>A (p.Pro261Thr) c.955C>A (n.955C>A) c.*270C>A (n.*270C>A) n.31C>A c.667C>A (p.Pro223Thr) c.577C>A (p.Pro193Thr) c.373C>A (p.Pro125Thr) | |
| 17 | g.75953615C>A | CA401066038 | ACOX1 | c.780G>T (p.Lys260Asn) c.954G>T (n.954G>T) c.*269G>T (n.*269G>T) n.30G>T c.666G>T (p.Lys222Asn) c.576G>T (p.Lys192Asn) c.372G>T (p.Lys124Asn) | dbSNP |
| 17 | g.75953615C= | CA2275763299 | ACOX1 | c.780G= (p.Lys260=) c.954G= (n.954G=) c.*269G= (n.*269G=) n.30G= c.666G= (p.Lys222=) c.576G= (p.Lys192=) c.372G= (p.Lys124=) | |
| 17 | g.75953615C>G | CA401066039 | ACOX1 | c.780G>C (p.Lys260Asn) c.954G>C (n.954G>C) c.*269G>C (n.*269G>C) n.30G>C c.666G>C (p.Lys222Asn) c.576G>C (p.Lys192Asn) c.372G>C (p.Lys124Asn) | |
| 17 | g.75953615C>T | CA501856211 | ACOX1 | c.780G>A (p.Lys260=) c.954G>A (n.954G>A) c.*269G>A (n.*269G>A) n.30G>A c.666G>A (p.Lys222=) c.576G>A (p.Lys192=) c.372G>A (p.Lys124=) | ClinVar gnomAD v4 |
| 17 | g.75953616T>A | CA401066041 | ACOX1 | c.779A>T (p.Lys260Met) c.953A>T (n.953A>T) c.*268A>T (n.*268A>T) n.29A>T c.665A>T (p.Lys222Met) c.575A>T (p.Lys192Met) c.371A>T (p.Lys124Met) | |
| 17 | g.75953616T>C | CA401066042 | ACOX1 | c.779A>G (p.Lys260Arg) c.953A>G (n.953A>G) c.*268A>G (n.*268A>G) n.29A>G c.665A>G (p.Lys222Arg) c.575A>G (p.Lys192Arg) c.371A>G (p.Lys124Arg) | |
| 17 | g.75953616T>G | CA401066044 | ACOX1 | c.779A>C (p.Lys260Thr) c.953A>C (n.953A>C) c.*268A>C (n.*268A>C) n.29A>C c.665A>C (p.Lys222Thr) c.575A>C (p.Lys192Thr) c.371A>C (p.Lys124Thr) | |
| 17 | g.75953617T>A | CA401066048 | ACOX1 | c.778A>T (p.Lys260Ter) c.952A>T (n.952A>T) c.*267A>T (n.*267A>T) n.28A>T c.664A>T (p.Lys222Ter) c.574A>T (p.Lys192Ter) c.370A>T (p.Lys124Ter) | |
| 17 | g.75953617T>C | CA401066056 | ACOX1 | c.778A>G (p.Lys260Glu) c.952A>G (n.952A>G) c.*267A>G (n.*267A>G) n.28A>G c.664A>G (p.Lys222Glu) c.574A>G (p.Lys192Glu) c.370A>G (p.Lys124Glu) | |
| 17 | g.75953617T>G | CA401066051 | ACOX1 | c.778A>C (p.Lys260Gln) c.952A>C (n.952A>C) c.*267A>C (n.*267A>C) n.28A>C c.664A>C (p.Lys222Gln) c.574A>C (p.Lys192Gln) c.370A>C (p.Lys124Gln) | |
| 17 | g.75953618C>A | CA501856212 | ACOX1 | c.777G>T (p.Val259=) c.951G>T (n.951G>T) c.*266G>T (n.*266G>T) n.27G>T c.663G>T (p.Val221=) c.573G>T (p.Val191=) c.369G>T (p.Val123=) | |
| 17 | g.75953618C>G | CA501856213 | ACOX1 | c.777G>C (p.Val259=) c.951G>C (n.951G>C) c.*266G>C (n.*266G>C) n.27G>C c.663G>C (p.Val221=) c.573G>C (p.Val191=) c.369G>C (p.Val123=) | |
| 17 | g.75953618C>T | CA501856214 | ACOX1 | c.777G>A (p.Val259=) c.951G>A (n.951G>A) c.*266G>A (n.*266G>A) n.27G>A c.663G>A (p.Val221=) c.573G>A (p.Val191=) c.369G>A (p.Val123=) | |
| 17 | g.75953619A>C | CA401066059 | ACOX1 | c.776T>G (p.Val259Gly) c.950T>G (n.950T>G) c.*265T>G (n.*265T>G) n.26T>G c.662T>G (p.Val221Gly) c.572T>G (p.Val191Gly) c.368T>G (p.Val123Gly) | |
| 17 | g.75953619A>G | CA401066061 | ACOX1 | c.776T>C (p.Val259Ala) c.950T>C (n.950T>C) c.*265T>C (n.*265T>C) n.26T>C c.662T>C (p.Val221Ala) c.572T>C (p.Val191Ala) c.368T>C (p.Val123Ala) | |
| 17 | g.75953619A>T | CA401066072 | ACOX1 | c.776T>A (p.Val259Glu) c.950T>A (n.950T>A) c.*265T>A (n.*265T>A) n.26T>A c.662T>A (p.Val221Glu) c.572T>A (p.Val191Glu) c.368T>A (p.Val123Glu) | |
| 17 | g.75953620C>A | CA401066073 | ACOX1 | c.775G>T (p.Val259Leu) c.949G>T (n.949G>T) c.*264G>T (n.*264G>T) n.25G>T c.661G>T (p.Val221Leu) c.571G>T (p.Val191Leu) c.367G>T (p.Val123Leu) | |
| 17 | g.75953620C>G | CA401066074 | ACOX1 | c.775G>C (p.Val259Leu) c.949G>C (n.949G>C) c.*264G>C (n.*264G>C) n.25G>C c.661G>C (p.Val221Leu) c.571G>C (p.Val191Leu) c.367G>C (p.Val123Leu) | |
| 17 | g.75953620C>T | CA401066075 | ACOX1 | c.775G>A (p.Val259Met) c.949G>A (n.949G>A) c.*264G>A (n.*264G>A) n.25G>A c.661G>A (p.Val221Met) c.571G>A (p.Val191Met) c.367G>A (p.Val123Met) | gnomAD v4 COSMIC COSMIC |
| 17 | g.75953621C>A | CA401066077 | ACOX1 | c.775-1G>T (n.775-1G>T) c.949-1G>T (n.949-1G>T) c.*264-1G>T (n.*264-1G>T) n.25-1G>T c.661-1G>T (n.661-1G>T) c.571-1G>T (n.571-1G>T) c.367-1G>T (n.367-1G>T) | |
| 17 | g.75953621C>G | CA401066079 | ACOX1 | c.775-1G>C (n.775-1G>C) c.949-1G>C (n.949-1G>C) c.*264-1G>C (n.*264-1G>C) n.25-1G>C c.661-1G>C (n.661-1G>C) c.571-1G>C (n.571-1G>C) c.367-1G>C (n.367-1G>C) | |
| 17 | g.75953621C>T | CA401066096 | ACOX1 | c.775-1G>A (n.775-1G>A) c.949-1G>A (n.949-1G>A) c.*264-1G>A (n.*264-1G>A) n.25-1G>A c.661-1G>A (n.661-1G>A) c.571-1G>A (n.571-1G>A) c.367-1G>A (n.367-1G>A) | |
| 17 | g.75953622T>A | CA401066099 | ACOX1 | c.775-2A>T (n.775-2A>T) c.949-2A>T (n.949-2A>T) c.*264-2A>T (n.*264-2A>T) n.25-2A>T c.661-2A>T (n.661-2A>T) c.571-2A>T (n.571-2A>T) c.367-2A>T (n.367-2A>T) | |
| 17 | g.75953622T>C | CA401066103 | ACOX1 | c.775-2A>G (n.775-2A>G) c.949-2A>G (n.949-2A>G) c.*264-2A>G (n.*264-2A>G) n.25-2A>G c.661-2A>G (n.661-2A>G) c.571-2A>G (n.571-2A>G) c.367-2A>G (n.367-2A>G) | |
| 17 | g.75953622T>G | CA401066117 | ACOX1 | c.775-2A>C (n.775-2A>C) c.949-2A>C (n.949-2A>C) c.*264-2A>C (n.*264-2A>C) n.25-2A>C c.661-2A>C (n.661-2A>C) c.571-2A>C (n.571-2A>C) c.367-2A>C (n.367-2A>C) | |
| 17 | g.75953622T= | CA2275763300 | ACOX1 | c.775-2A= (n.775-2A=) c.949-2A= (n.949-2A=) c.*264-2A= (n.*264-2A=) n.25-2A= c.661-2A= (n.661-2A=) c.571-2A= (n.571-2A=) c.367-2A= (n.367-2A=) | |
| 17 | g.75953624_75953625insGCATACTTCATCAGCATGTTTTCTCTGGG | CA2275763301 | ACOX1 | c.775-3_775-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.775-3_775-2insCAGAGAAAACATGCTGATGAAGTATGCCC) c.949-3_949-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.949-3_949-2insCAGAGAAAACATGCTGATGAAGTATGCCC) c.*264-3_*264-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.*264-3_*264-2insCAGAGAAAACATGCTGATGAAGTATGCCC) n.25-3_25-2insCAGAGAAAACATGCTGATGAAGTATGCCC c.661-3_661-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.661-3_661-2insCAGAGAAAACATGCTGATGAAGTATGCCC) c.571-3_571-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.571-3_571-2insCAGAGAAAACATGCTGATGAAGTATGCCC) c.367-3_367-2insCAGAGAAAACATGCTGATGAAGTATGCCC (n.367-3_367-2insCAGAGAAAACATGCTGATGAAGTATGCCC) | dbSNP |
| 17 | g.75953623_75953626delinsGGAA | CA2275763302 | ACOX1 | c.775-6_775-3delinsTTCC (n.775-6_775-3delinsTTCC) c.949-6_949-3delinsTTCC (n.949-6_949-3delinsTTCC) c.*264-6_*264-3delinsTTCC (n.*264-6_*264-3delinsTTCC) n.25-6_25-3delinsTTCC c.661-6_661-3delinsTTCC (n.661-6_661-3delinsTTCC) c.571-6_571-3delinsTTCC (n.571-6_571-3delinsTTCC) c.367-6_367-3delinsTTCC (n.367-6_367-3delinsTTCC) | |
| 17 | g.75953630_75953632del | CA627424490 | ACOX1 | c.775-6_775-4del (n.775-6_775-4del) c.949-6_949-4del (n.949-6_949-4del) c.*264-6_*264-4del (n.*264-6_*264-4del) n.25-6_25-4del c.661-6_661-4del (n.661-6_661-4del) c.571-6_571-4del (n.571-6_571-4del) c.367-6_367-4del (n.367-6_367-4del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75953624_75953625insGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTGGC | CA2639925608 | ACOX1 | c.775-5_775-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.775-5_775-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.949-5_949-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.949-5_949-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.*264-5_*264-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.*264-5_*264-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) n.25-5_25-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC c.661-5_661-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.661-5_661-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.571-5_571-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.571-5_571-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.367-5_367-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.367-5_367-4insGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) | gnomAD v4 |
| 17 | g.75953624_75953625insGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTGGCA | CA2639925609 | ACOX1 | c.775-5_775-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.775-5_775-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.949-5_949-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.949-5_949-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.*264-5_*264-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.*264-5_*264-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) n.25-5_25-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC c.661-5_661-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.661-5_661-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.571-5_571-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.571-5_571-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) c.367-5_367-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC (n.367-5_367-4insTGCCAGGAATTACCGTTGGTGACATCGGCCCCAAATTTGGTTATGATGAGATAGACAATGGCTACCTCAAAATGGACAACCATCGTATTCCCAGAGAAAACATGCTGATGAAGTATGC) | gnomAD v4 |
| 17 | g.75953627G>C | CA2639925610 | ACOX1 | c.775-7C>G (n.775-7C>G) c.949-7C>G (n.949-7C>G) c.*264-7C>G (n.*264-7C>G) n.25-7C>G c.661-7C>G (n.661-7C>G) c.571-7C>G (n.571-7C>G) c.367-7C>G (n.367-7C>G) | gnomAD v4 |
| 17 | g.75953631A= | CA2275763303 | ACOX1 | c.775-11T= (n.775-11T=) c.949-11T= (n.949-11T=) c.*264-11T= (n.*264-11T=) n.25-11T= c.661-11T= (n.661-11T=) c.571-11T= (n.571-11T=) c.367-11T= (n.367-11T=) | |
| 17 | g.75953631A>G | CA2275763304 | ACOX1 | c.775-11T>C (n.775-11T>C) c.949-11T>C (n.949-11T>C) c.*264-11T>C (n.*264-11T>C) n.25-11T>C c.661-11T>C (n.661-11T>C) c.571-11T>C (n.571-11T>C) c.367-11T>C (n.367-11T>C) | dbSNP |
| 17 | g.75953633C= | CA2275763305 | ACOX1 | c.775-13G= (n.775-13G=) c.949-13G= (n.949-13G=) c.*264-13G= (n.*264-13G=) n.25-13G= c.661-13G= (n.661-13G=) c.571-13G= (n.571-13G=) c.367-13G= (n.367-13G=) | |
| 17 | g.75953633C>G | CA8776918 | ACOX1 | c.775-13G>C (n.775-13G>C) c.949-13G>C (n.949-13G>C) c.*264-13G>C (n.*264-13G>C) n.25-13G>C c.661-13G>C (n.661-13G>C) c.571-13G>C (n.571-13G>C) c.367-13G>C (n.367-13G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953633C>T | CA8776917 | ACOX1 | c.775-13G>A (n.775-13G>A) c.949-13G>A (n.949-13G>A) c.*264-13G>A (n.*264-13G>A) n.25-13G>A c.661-13G>A (n.661-13G>A) c.571-13G>A (n.571-13G>A) c.367-13G>A (n.367-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953634G>A | CA8776919 | ACOX1 | c.775-14C>T (n.775-14C>T) c.949-14C>T (n.949-14C>T) c.*264-14C>T (n.*264-14C>T) n.25-14C>T c.661-14C>T (n.661-14C>T) c.571-14C>T (n.571-14C>T) c.367-14C>T (n.367-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953634G= | CA2275763306 | ACOX1 | c.775-14C= (n.775-14C=) c.949-14C= (n.949-14C=) c.*264-14C= (n.*264-14C=) n.25-14C= c.661-14C= (n.661-14C=) c.571-14C= (n.571-14C=) c.367-14C= (n.367-14C=) | |
| 17 | g.75953636G>A | CA2639925611 | ACOX1 | c.775-16C>T (n.775-16C>T) c.949-16C>T (n.949-16C>T) c.*264-16C>T (n.*264-16C>T) n.25-16C>T c.661-16C>T (n.661-16C>T) c.571-16C>T (n.571-16C>T) c.367-16C>T (n.367-16C>T) | gnomAD v4 |
| 17 | g.75953636G>C | CA2639925612 | ACOX1 | c.775-16C>G (n.775-16C>G) c.949-16C>G (n.949-16C>G) c.*264-16C>G (n.*264-16C>G) n.25-16C>G c.661-16C>G (n.661-16C>G) c.571-16C>G (n.571-16C>G) c.367-16C>G (n.367-16C>G) | gnomAD v4 |
| 17 | g.75953637G>A | CA2739268432 | ACOX1 | c.775-17C>T (n.775-17C>T) c.949-17C>T (n.949-17C>T) c.*264-17C>T (n.*264-17C>T) n.25-17C>T c.661-17C>T (n.661-17C>T) c.571-17C>T (n.571-17C>T) c.367-17C>T (n.367-17C>T) | ClinVar |
| 17 | g.75953641T>C | CA656878172 | ACOX1 | c.775-21A>G (n.775-21A>G) c.949-21A>G (n.949-21A>G) c.*264-21A>G (n.*264-21A>G) n.25-21A>G c.661-21A>G (n.661-21A>G) c.571-21A>G (n.571-21A>G) c.367-21A>G (n.367-21A>G) | COSMIC |
| 17 | g.75953641_75953650delinsTGATACTTCC | CA2275763307 | ACOX1 | c.775-30_775-21delinsGGAAGTATCA (n.775-30_775-21delinsGGAAGTATCA) c.949-30_949-21delinsGGAAGTATCA (n.949-30_949-21delinsGGAAGTATCA) c.*264-30_*264-21delinsGGAAGTATCA (n.*264-30_*264-21delinsGGAAGTATCA) n.25-30_25-21delinsGGAAGTATCA c.661-30_661-21delinsGGAAGTATCA (n.661-30_661-21delinsGGAAGTATCA) c.571-30_571-21delinsGGAAGTATCA (n.571-30_571-21delinsGGAAGTATCA) c.367-30_367-21delinsGGAAGTATCA (n.367-30_367-21delinsGGAAGTATCA) | |
| 17 | g.75953642del | CA2639925615 | ACOX1 | c.775-22del (n.775-22del) c.949-22del (n.949-22del) c.*264-22del (n.*264-22del) n.25-22del c.661-22del (n.661-22del) c.571-22del (n.571-22del) c.367-22del (n.367-22del) | gnomAD v4 |
| 17 | g.75953642G>A | CA2639925614 | ACOX1 | c.775-22C>T (n.775-22C>T) c.949-22C>T (n.949-22C>T) c.*264-22C>T (n.*264-22C>T) n.25-22C>T c.661-22C>T (n.661-22C>T) c.571-22C>T (n.571-22C>T) c.367-22C>T (n.367-22C>T) | gnomAD v4 |
| 17 | g.75953642G>C | CA2639925613 | ACOX1 | c.775-22C>G (n.775-22C>G) c.949-22C>G (n.949-22C>G) c.*264-22C>G (n.*264-22C>G) n.25-22C>G c.661-22C>G (n.661-22C>G) c.571-22C>G (n.571-22C>G) c.367-22C>G (n.367-22C>G) | gnomAD v4 |
| 17 | g.75953642_75953650del | CA2275763308 | ACOX1 | c.775-30_775-22del (n.775-30_775-22del) c.949-30_949-22del (n.949-30_949-22del) c.*264-30_*264-22del (n.*264-30_*264-22del) n.25-30_25-22del c.661-30_661-22del (n.661-30_661-22del) c.571-30_571-22del (n.571-30_571-22del) c.367-30_367-22del (n.367-30_367-22del) | dbSNP |
| 17 | g.75953643A>C | CA2576394869 | ACOX1 | c.775-23T>G (n.775-23T>G) c.949-23T>G (n.949-23T>G) c.*264-23T>G (n.*264-23T>G) n.25-23T>G c.661-23T>G (n.661-23T>G) c.571-23T>G (n.571-23T>G) c.367-23T>G (n.367-23T>G) | |
| 17 | g.75953644T>C | CA8776920 | ACOX1 | c.775-24A>G (n.775-24A>G) c.949-24A>G (n.949-24A>G) c.*264-24A>G (n.*264-24A>G) n.25-24A>G c.661-24A>G (n.661-24A>G) c.571-24A>G (n.571-24A>G) c.367-24A>G (n.367-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75953644T= | CA2275763309 | ACOX1 | c.775-24A= (n.775-24A=) c.949-24A= (n.949-24A=) c.*264-24A= (n.*264-24A=) n.25-24A= c.661-24A= (n.661-24A=) c.571-24A= (n.571-24A=) c.367-24A= (n.367-24A=) | |
| 17 | g.75953645_75953652del | CA2639925616 | ACOX1 | c.775-31_775-24del (n.775-31_775-24del) c.949-31_949-24del (n.949-31_949-24del) c.*264-31_*264-24del (n.*264-31_*264-24del) n.25-31_25-24del c.661-31_661-24del (n.661-31_661-24del) c.571-31_571-24del (n.571-31_571-24del) c.367-31_367-24del (n.367-31_367-24del) | gnomAD v4 |
| 17 | g.75953645dup | CA627424491 | ACOX1 | c.775-25dup (n.775-25dup) c.949-25dup (n.949-25dup) c.*264-25dup (n.*264-25dup) n.25-25dup c.661-25dup (n.661-25dup) c.571-25dup (n.571-25dup) c.367-25dup (n.367-25dup) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75953646C= | CA2275763310 | ACOX1 | c.775-26G= (n.775-26G=) c.949-26G= (n.949-26G=) c.*264-26G= (n.*264-26G=) n.25-26G= c.661-26G= (n.661-26G=) c.571-26G= (n.571-26G=) c.367-26G= (n.367-26G=) | |
| 17 | g.75953646C>G | CA8776921 | ACOX1 | c.775-26G>C (n.775-26G>C) c.949-26G>C (n.949-26G>C) c.*264-26G>C (n.*264-26G>C) n.25-26G>C c.661-26G>C (n.661-26G>C) c.571-26G>C (n.571-26G>C) c.367-26G>C (n.367-26G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75953646C>T | CA2275763311 | ACOX1 | c.775-26G>A (n.775-26G>A) c.949-26G>A (n.949-26G>A) c.*264-26G>A (n.*264-26G>A) n.25-26G>A c.661-26G>A (n.661-26G>A) c.571-26G>A (n.571-26G>A) c.367-26G>A (n.367-26G>A) | dbSNP gnomAD v4 |
| 17 | g.75953647T>G | CA775114279 | ACOX1 | c.775-27A>C (n.775-27A>C) c.949-27A>C (n.949-27A>C) c.*264-27A>C (n.*264-27A>C) n.25-27A>C c.661-27A>C (n.661-27A>C) c.571-27A>C (n.571-27A>C) c.367-27A>C (n.367-27A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75953647T= | CA2275763312 | ACOX1 | c.775-27A= (n.775-27A=) c.949-27A= (n.949-27A=) c.*264-27A= (n.*264-27A=) n.25-27A= c.661-27A= (n.661-27A=) c.571-27A= (n.571-27A=) c.367-27A= (n.367-27A=) | |
| 17 | g.75953649C>A | CA2639925617 | ACOX1 | c.775-29G>T (n.775-29G>T) c.949-29G>T (n.949-29G>T) c.*264-29G>T (n.*264-29G>T) n.25-29G>T c.661-29G>T (n.661-29G>T) c.571-29G>T (n.571-29G>T) c.367-29G>T (n.367-29G>T) | gnomAD v4 |
| 17 | g.75953651T>A | CA2275763314 | ACOX1 | c.775-31A>T (n.775-31A>T) c.949-31A>T (n.949-31A>T) c.*264-31A>T (n.*264-31A>T) n.25-31A>T c.661-31A>T (n.661-31A>T) c.571-31A>T (n.571-31A>T) c.367-31A>T (n.367-31A>T) | dbSNP |
| 17 | g.75953651T= | CA2275763313 | ACOX1 | c.775-31A= (n.775-31A=) c.949-31A= (n.949-31A=) c.*264-31A= (n.*264-31A=) n.25-31A= c.661-31A= (n.661-31A=) c.571-31A= (n.571-31A=) c.367-31A= (n.367-31A=) | |
| 17 | g.75953653C= | CA2275763315 | ACOX1 | c.775-33G= (n.775-33G=) c.949-33G= (n.949-33G=) c.*264-33G= (n.*264-33G=) n.25-33G= c.661-33G= (n.661-33G=) c.571-33G= (n.571-33G=) c.367-33G= (n.367-33G=) | |
| 17 | g.75953653_75953654insAG | CA2275763317 | ACOX1 | c.775-34_775-33insCT (n.775-34_775-33insCT) c.949-34_949-33insCT (n.949-34_949-33insCT) c.*264-34_*264-33insCT (n.*264-34_*264-33insCT) n.25-34_25-33insCT c.661-34_661-33insCT (n.661-34_661-33insCT) c.571-34_571-33insCT (n.571-34_571-33insCT) c.367-34_367-33insCT (n.367-34_367-33insCT) | dbSNP gnomAD v4 |
| 17 | g.75953654T>C | CA627424492 | ACOX1 | c.775-34A>G (n.775-34A>G) c.949-34A>G (n.949-34A>G) c.*264-34A>G (n.*264-34A>G) n.25-34A>G c.661-34A>G (n.661-34A>G) c.571-34A>G (n.571-34A>G) c.367-34A>G (n.367-34A>G) | dbSNP gnomAD v2 |
| 17 | g.75953654T= | CA2275763316 | ACOX1 | c.775-34A= (n.775-34A=) c.949-34A= (n.949-34A=) c.*264-34A= (n.*264-34A=) n.25-34A= c.661-34A= (n.661-34A=) c.571-34A= (n.571-34A=) c.367-34A= (n.367-34A=) | |
| 17 | g.75953655T>C | CA2639925618 | ACOX1 | c.775-35A>G (n.775-35A>G) c.949-35A>G (n.949-35A>G) c.*264-35A>G (n.*264-35A>G) n.25-35A>G c.661-35A>G (n.661-35A>G) c.571-35A>G (n.571-35A>G) c.367-35A>G (n.367-35A>G) | dbSNP gnomAD v4 |
| 17 | g.75953659A= | CA2275763318 | ACOX1 | c.775-39T= (n.775-39T=) c.949-39T= (n.949-39T=) c.*264-39T= (n.*264-39T=) n.25-39T= c.661-39T= (n.661-39T=) c.571-39T= (n.571-39T=) c.367-39T= (n.367-39T=) | |
| 17 | g.75953659A>C | CA775114280 | ACOX1 | c.775-39T>G (n.775-39T>G) c.949-39T>G (n.949-39T>G) c.*264-39T>G (n.*264-39T>G) n.25-39T>G c.661-39T>G (n.661-39T>G) c.571-39T>G (n.571-39T>G) c.367-39T>G (n.367-39T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75953660G>A | CA2275763320 | ACOX1 | c.775-40C>T (n.775-40C>T) c.949-40C>T (n.949-40C>T) c.*264-40C>T (n.*264-40C>T) n.25-40C>T c.661-40C>T (n.661-40C>T) c.571-40C>T (n.571-40C>T) c.367-40C>T (n.367-40C>T) | dbSNP |
| 17 | g.75953660G= | CA2275763319 | ACOX1 | c.775-40C= (n.775-40C=) c.949-40C= (n.949-40C=) c.*264-40C= (n.*264-40C=) n.25-40C= c.661-40C= (n.661-40C=) c.571-40C= (n.571-40C=) c.367-40C= (n.367-40C=) | |
| 17 | g.75953661C= | CA2275763321 | ACOX1 | c.775-41G= (n.775-41G=) c.949-41G= (n.949-41G=) c.*264-41G= (n.*264-41G=) n.25-41G= c.661-41G= (n.661-41G=) c.571-41G= (n.571-41G=) c.367-41G= (n.367-41G=) | |
| 17 | g.75953661C>G | CA627424493 | ACOX1 | c.775-41G>C (n.775-41G>C) c.949-41G>C (n.949-41G>C) c.*264-41G>C (n.*264-41G>C) n.25-41G>C c.661-41G>C (n.661-41G>C) c.571-41G>C (n.571-41G>C) c.367-41G>C (n.367-41G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75953661C>T | CA2275763322 | ACOX1 | c.775-41G>A (n.775-41G>A) c.949-41G>A (n.949-41G>A) c.*264-41G>A (n.*264-41G>A) n.25-41G>A c.661-41G>A (n.661-41G>A) c.571-41G>A (n.571-41G>A) c.367-41G>A (n.367-41G>A) | dbSNP gnomAD v4 |
| 17 | g.75953663C>T | CA2639925619 | ACOX1 | c.775-43G>A (n.775-43G>A) c.949-43G>A (n.949-43G>A) c.*264-43G>A (n.*264-43G>A) n.25-43G>A c.661-43G>A (n.661-43G>A) c.571-43G>A (n.571-43G>A) c.367-43G>A (n.367-43G>A) | gnomAD v4 |