| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.39394473_39394474delinsTG | CA1358939297 | SLC25A38 | c.641_642delinsTG (p.Leu214=) c.638_639delinsTG (p.Leu213=) c.635_636delinsTG (p.Leu212=) c.745_746delinsTG (p.Trp249=) c.689_690delinsTG (p.Leu230=) c.677_678delinsTG (p.Leu226=) c.671_672delinsTG (p.Leu224=) c.509_510delinsTG (p.Leu170=) c.626-1925_626-1924delinsTG (n.626-1925_626-1924delinsTG) | |
| 3 | g.39394474G>A | CA433164501 | SLC25A38 | c.642G>A (p.Leu214=) c.639G>A (p.Leu213=) c.636G>A (p.Leu212=) c.746G>A (p.Trp249Ter) c.690G>A (p.Leu230=) c.678G>A (p.Leu226=) c.672G>A (p.Leu224=) c.510G>A (p.Leu170=) c.626-1924G>A (n.626-1924G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394474G>C | CA433164504 | SLC25A38 | c.642G>C (p.Leu214=) c.639G>C (p.Leu213=) c.636G>C (p.Leu212=) c.746G>C (p.Trp249Ser) c.690G>C (p.Leu230=) c.678G>C (p.Leu226=) c.672G>C (p.Leu224=) c.510G>C (p.Leu170=) c.626-1924G>C (n.626-1924G>C) | dbSNP gnomAD v4 |
| 3 | g.39394474G= | CA1358939298 | SLC25A38 | c.642G= (p.Leu214=) c.639G= (p.Leu213=) c.636G= (p.Leu212=) c.746G= (p.Trp249=) c.690G= (p.Leu230=) c.678G= (p.Leu226=) c.672G= (p.Leu224=) c.510G= (p.Leu170=) c.626-1924G= (n.626-1924G=) | |
| 3 | g.39394474G>T | CA433164507 | SLC25A38 | c.642G>T (p.Leu214=) c.639G>T (p.Leu213=) c.636G>T (p.Leu212=) c.746G>T (p.Trp249Leu) c.690G>T (p.Leu230=) c.678G>T (p.Leu226=) c.672G>T (p.Leu224=) c.510G>T (p.Leu170=) c.626-1924G>T (n.626-1924G>T) | |
| 3 | g.39394475del | CA542617040 | SLC25A38 | c.643del (p.Ala215ProfsTer4) c.640del (p.Ala214ProfsTer4) c.637del (p.Ala213ProfsTer4) c.747del (p.Trp249CysfsTer?) c.691del (p.Ala231ProfsTer4) c.679del (p.Ala227ProfsTer4) c.673del (p.Ala225ProfsTer4) c.511del (p.Ala171ProfsTer4) c.626-1923del (n.626-1923del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394475G>A | CA352205052 | SLC25A38 | c.643G>A (p.Ala215Thr) c.640G>A (p.Ala214Thr) c.637G>A (p.Ala213Thr) c.747G>A (p.Trp249Ter) c.691G>A (p.Ala231Thr) c.679G>A (p.Ala227Thr) c.673G>A (p.Ala225Thr) c.511G>A (p.Ala171Thr) c.626-1923G>A (n.626-1923G>A) | |
| 3 | g.39394475G>C | CA352205055 | SLC25A38 | c.643G>C (p.Ala215Pro) c.640G>C (p.Ala214Pro) c.637G>C (p.Ala213Pro) c.747G>C (p.Trp249Cys) c.691G>C (p.Ala231Pro) c.679G>C (p.Ala227Pro) c.673G>C (p.Ala225Pro) c.511G>C (p.Ala171Pro) c.626-1923G>C (n.626-1923G>C) | |
| 3 | g.39394475G>T | CA352205049 | SLC25A38 | c.643G>T (p.Ala215Ser) c.640G>T (p.Ala214Ser) c.637G>T (p.Ala213Ser) c.747G>T (p.Trp249Cys) c.691G>T (p.Ala231Ser) c.679G>T (p.Ala227Ser) c.673G>T (p.Ala225Ser) c.511G>T (p.Ala171Ser) c.626-1923G>T (n.626-1923G>T) | |
| 3 | g.39394476C>A | CA352205061 | SLC25A38 | c.644C>A (p.Ala215Asp) c.641C>A (p.Ala214Asp) c.638C>A (p.Ala213Asp) c.748C>A (p.Pro250Thr) c.692C>A (p.Ala231Asp) c.680C>A (p.Ala227Asp) c.674C>A (p.Ala225Asp) c.512C>A (p.Ala171Asp) c.626-1922C>A (n.626-1922C>A) | |
| 3 | g.39394476C>G | CA352205062 | SLC25A38 | c.644C>G (p.Ala215Gly) c.641C>G (p.Ala214Gly) c.638C>G (p.Ala213Gly) c.748C>G (p.Pro250Ala) c.692C>G (p.Ala231Gly) c.680C>G (p.Ala227Gly) c.674C>G (p.Ala225Gly) c.512C>G (p.Ala171Gly) c.626-1922C>G (n.626-1922C>G) | |
| 3 | g.39394476C>T | CA352205063 | SLC25A38 | c.644C>T (p.Ala215Val) c.641C>T (p.Ala214Val) c.638C>T (p.Ala213Val) c.748C>T (p.Pro250Ser) c.692C>T (p.Ala231Val) c.680C>T (p.Ala227Val) c.674C>T (p.Ala225Val) c.512C>T (p.Ala171Val) c.626-1922C>T (n.626-1922C>T) | |
| 3 | g.39394477C>A | CA433164521 | SLC25A38 | c.645C>A (p.Ala215=) c.642C>A (p.Ala214=) c.639C>A (p.Ala213=) c.749C>A (p.Pro250His) c.693C>A (p.Ala231=) c.681C>A (p.Ala227=) c.675C>A (p.Ala225=) c.513C>A (p.Ala171=) c.626-1921C>A (n.626-1921C>A) | |
| 3 | g.39394477C>G | CA433164524 | SLC25A38 | c.645C>G (p.Ala215=) c.642C>G (p.Ala214=) c.639C>G (p.Ala213=) c.749C>G (p.Pro250Arg) c.693C>G (p.Ala231=) c.681C>G (p.Ala227=) c.675C>G (p.Ala225=) c.513C>G (p.Ala171=) c.626-1921C>G (n.626-1921C>G) | |
| 3 | g.39394477C>T | CA433164527 | SLC25A38 | c.645C>T (p.Ala215=) c.642C>T (p.Ala214=) c.639C>T (p.Ala213=) c.749C>T (p.Pro250Leu) c.693C>T (p.Ala231=) c.681C>T (p.Ala227=) c.675C>T (p.Ala225=) c.513C>T (p.Ala171=) c.626-1921C>T (n.626-1921C>T) | |
| 3 | g.39394478T>A | CA352205064 | SLC25A38 | c.646T>A (p.Ser216Thr) c.643T>A (p.Ser215Thr) c.640T>A (p.Ser214Thr) c.750T>A (p.Pro250=) c.694T>A (p.Ser232Thr) c.682T>A (p.Ser228Thr) c.676T>A (p.Ser226Thr) c.514T>A (p.Ser172Thr) c.626-1920T>A (n.626-1920T>A) | |
| 3 | g.39394478T>C | CA352205065 | SLC25A38 | c.646T>C (p.Ser216Pro) c.643T>C (p.Ser215Pro) c.640T>C (p.Ser214Pro) c.750T>C (p.Pro250=) c.694T>C (p.Ser232Pro) c.682T>C (p.Ser228Pro) c.676T>C (p.Ser226Pro) c.514T>C (p.Ser172Pro) c.626-1920T>C (n.626-1920T>C) | |
| 3 | g.39394478T>G | CA352205066 | SLC25A38 | c.646T>G (p.Ser216Ala) c.643T>G (p.Ser215Ala) c.640T>G (p.Ser214Ala) c.750T>G (p.Pro250=) c.694T>G (p.Ser232Ala) c.682T>G (p.Ser228Ala) c.676T>G (p.Ser226Ala) c.514T>G (p.Ser172Ala) c.626-1920T>G (n.626-1920T>G) | |
| 3 | g.39394479C>A | CA352205070 | SLC25A38 | c.647C>A (p.Ser216Ter) c.644C>A (p.Ser215Ter) c.641C>A (p.Ser214Ter) c.751C>A (p.His251Asn) c.695C>A (p.Ser232Ter) c.683C>A (p.Ser228Ter) c.677C>A (p.Ser226Ter) c.515C>A (p.Ser172Ter) c.626-1919C>A (n.626-1919C>A) | |
| 3 | g.39394479C>G | CA352205074 | SLC25A38 | c.647C>G (p.Ser216Ter) c.644C>G (p.Ser215Ter) c.641C>G (p.Ser214Ter) c.751C>G (p.His251Asp) c.695C>G (p.Ser232Ter) c.683C>G (p.Ser228Ter) c.677C>G (p.Ser226Ter) c.515C>G (p.Ser172Ter) c.626-1919C>G (n.626-1919C>G) | |
| 3 | g.39394479C>T | CA352205078 | SLC25A38 | c.647C>T (p.Ser216Leu) c.644C>T (p.Ser215Leu) c.641C>T (p.Ser214Leu) c.751C>T (p.His251Tyr) c.695C>T (p.Ser232Leu) c.683C>T (p.Ser228Leu) c.677C>T (p.Ser226Leu) c.515C>T (p.Ser172Leu) c.626-1919C>T (n.626-1919C>T) | |
| 3 | g.39394480A>C | CA433164545 | SLC25A38 | c.648A>C (p.Ser216=) c.645A>C (p.Ser215=) c.642A>C (p.Ser214=) c.752A>C (p.His251Pro) c.696A>C (p.Ser232=) c.684A>C (p.Ser228=) c.678A>C (p.Ser226=) c.516A>C (p.Ser172=) c.626-1918A>C (n.626-1918A>C) | |
| 3 | g.39394480A>G | CA433164546 | SLC25A38 | c.648A>G (p.Ser216=) c.645A>G (p.Ser215=) c.642A>G (p.Ser214=) c.752A>G (p.His251Arg) c.696A>G (p.Ser232=) c.684A>G (p.Ser228=) c.678A>G (p.Ser226=) c.516A>G (p.Ser172=) c.626-1918A>G (n.626-1918A>G) | |
| 3 | g.39394480A>T | CA433164547 | SLC25A38 | c.648A>T (p.Ser216=) c.645A>T (p.Ser215=) c.642A>T (p.Ser214=) c.752A>T (p.His251Leu) c.696A>T (p.Ser232=) c.684A>T (p.Ser228=) c.678A>T (p.Ser226=) c.516A>T (p.Ser172=) c.626-1918A>T (n.626-1918A>T) | |
| 3 | g.39394481C>A | CA352205093 | SLC25A38 | c.649C>A (p.Leu217Met) c.646C>A (p.Leu216Met) c.643C>A (p.Leu215Met) c.753C>A (p.His251Gln) c.697C>A (p.Leu233Met) c.685C>A (p.Leu229Met) c.679C>A (p.Leu227Met) c.517C>A (p.Leu173Met) c.626-1917C>A (n.626-1917C>A) | |
| 3 | g.39394481C>G | CA352205095 | SLC25A38 | c.649C>G (p.Leu217Val) c.646C>G (p.Leu216Val) c.643C>G (p.Leu215Val) c.753C>G (p.His251Gln) c.697C>G (p.Leu233Val) c.685C>G (p.Leu229Val) c.679C>G (p.Leu227Val) c.517C>G (p.Leu173Val) c.626-1917C>G (n.626-1917C>G) | |
| 3 | g.39394481C>T | CA433164551 | SLC25A38 | c.649C>T (p.Leu217=) c.646C>T (p.Leu216=) c.643C>T (p.Leu215=) c.753C>T (p.His251=) c.697C>T (p.Leu233=) c.685C>T (p.Leu229=) c.679C>T (p.Leu227=) c.517C>T (p.Leu173=) c.626-1917C>T (n.626-1917C>T) | gnomAD v4 |
| 3 | g.39394482T>A | CA352205103 | SLC25A38 | c.650T>A (p.Leu217Gln) c.647T>A (p.Leu216Gln) c.644T>A (p.Leu215Gln) c.754T>A (p.Trp252Arg) c.698T>A (p.Leu233Gln) c.686T>A (p.Leu229Gln) c.680T>A (p.Leu227Gln) c.518T>A (p.Leu173Gln) c.626-1916T>A (n.626-1916T>A) | |
| 3 | g.39394482T>C | CA352205101 | SLC25A38 | c.650T>C (p.Leu217Pro) c.647T>C (p.Leu216Pro) c.644T>C (p.Leu215Pro) c.754T>C (p.Trp252Arg) c.698T>C (p.Leu233Pro) c.686T>C (p.Leu229Pro) c.680T>C (p.Leu227Pro) c.518T>C (p.Leu173Pro) c.626-1916T>C (n.626-1916T>C) | |
| 3 | g.39394482T>G | CA352205099 | SLC25A38 | c.650T>G (p.Leu217Arg) c.647T>G (p.Leu216Arg) c.644T>G (p.Leu215Arg) c.754T>G (p.Trp252Gly) c.698T>G (p.Leu233Arg) c.686T>G (p.Leu229Arg) c.680T>G (p.Leu227Arg) c.518T>G (p.Leu173Arg) c.626-1916T>G (n.626-1916T>G) | |
| 3 | g.39394483G>A | CA433164565 | SLC25A38 | c.651G>A (p.Leu217=) c.648G>A (p.Leu216=) c.645G>A (p.Leu215=) c.755G>A (p.Trp252Ter) c.699G>A (p.Leu233=) c.687G>A (p.Leu229=) c.681G>A (p.Leu227=) c.519G>A (p.Leu173=) c.626-1915G>A (n.626-1915G>A) | |
| 3 | g.39394483G>C | CA433164567 | SLC25A38 | c.651G>C (p.Leu217=) c.648G>C (p.Leu216=) c.645G>C (p.Leu215=) c.755G>C (p.Trp252Ser) c.699G>C (p.Leu233=) c.687G>C (p.Leu229=) c.681G>C (p.Leu227=) c.519G>C (p.Leu173=) c.626-1915G>C (n.626-1915G>C) | |
| 3 | g.39394483G>T | CA433164569 | SLC25A38 | c.651G>T (p.Leu217=) c.648G>T (p.Leu216=) c.645G>T (p.Leu215=) c.755G>T (p.Trp252Leu) c.699G>T (p.Leu233=) c.687G>T (p.Leu229=) c.681G>T (p.Leu227=) c.519G>T (p.Leu173=) c.626-1915G>T (n.626-1915G>T) | |
| 3 | g.39394484G>A | CA352205105 | SLC25A38 | c.652G>A (p.Val218Ile) c.649G>A (p.Val217Ile) c.646G>A (p.Val216Ile) c.756G>A (p.Trp252Ter) c.700G>A (p.Val234Ile) c.688G>A (p.Val230Ile) c.682G>A (p.Val228Ile) c.520G>A (p.Val174Ile) c.626-1914G>A (n.626-1914G>A) | |
| 3 | g.39394484G>C | CA352205107 | SLC25A38 | c.652G>C (p.Val218Leu) c.649G>C (p.Val217Leu) c.646G>C (p.Val216Leu) c.756G>C (p.Trp252Cys) c.700G>C (p.Val234Leu) c.688G>C (p.Val230Leu) c.682G>C (p.Val228Leu) c.520G>C (p.Val174Leu) c.626-1914G>C (n.626-1914G>C) | |
| 3 | g.39394484G>T | CA352205111 | SLC25A38 | c.652G>T (p.Val218Leu) c.649G>T (p.Val217Leu) c.646G>T (p.Val216Leu) c.756G>T (p.Trp252Cys) c.700G>T (p.Val234Leu) c.688G>T (p.Val230Leu) c.682G>T (p.Val228Leu) c.520G>T (p.Val174Leu) c.626-1914G>T (n.626-1914G>T) | |
| 3 | g.39394485T>A | CA352205116 | SLC25A38 | c.653T>A (p.Val218Glu) c.650T>A (p.Val217Glu) c.647T>A (p.Val216Glu) c.757T>A (p.Ter253Lys) c.701T>A (p.Val234Glu) c.689T>A (p.Val230Glu) c.683T>A (p.Val228Glu) c.521T>A (p.Val174Glu) c.626-1913T>A (n.626-1913T>A) | |
| 3 | g.39394485T>C | CA352205120 | SLC25A38 | c.653T>C (p.Val218Ala) c.650T>C (p.Val217Ala) c.647T>C (p.Val216Ala) c.757T>C (p.Ter253Gln) c.701T>C (p.Val234Ala) c.689T>C (p.Val230Ala) c.683T>C (p.Val228Ala) c.521T>C (p.Val174Ala) c.626-1913T>C (n.626-1913T>C) | |
| 3 | g.39394485T>G | CA352205121 | SLC25A38 | c.653T>G (p.Val218Gly) c.650T>G (p.Val217Gly) c.647T>G (p.Val216Gly) c.757T>G (p.Ter253Glu) c.701T>G (p.Val234Gly) c.689T>G (p.Val230Gly) c.683T>G (p.Val228Gly) c.521T>G (p.Val174Gly) c.626-1913T>G (n.626-1913T>G) | |
| 3 | g.39394486A= | CA1358939299 | SLC25A38 | c.654A= (p.Val218=) c.651A= (p.Val217=) c.648A= (p.Val216=) c.758A= (p.Ter253=) c.702A= (p.Val234=) c.690A= (p.Val230=) c.684A= (p.Val228=) c.522A= (p.Val174=) c.626-1912A= (n.626-1912A=) | |
| 3 | g.39394486A>C | CA433164586 | SLC25A38 | c.654A>C (p.Val218=) c.651A>C (p.Val217=) c.648A>C (p.Val216=) c.758A>C (p.Ter253Ser) c.702A>C (p.Val234=) c.690A>C (p.Val230=) c.684A>C (p.Val228=) c.522A>C (p.Val174=) c.626-1912A>C (n.626-1912A>C) | |
| 3 | g.39394486A>G | CA73040721 | SLC25A38 | c.654A>G (p.Val218=) c.651A>G (p.Val217=) c.648A>G (p.Val216=) c.758A>G (p.Ter253=) c.702A>G (p.Val234=) c.690A>G (p.Val230=) c.684A>G (p.Val228=) c.522A>G (p.Val174=) c.626-1912A>G (n.626-1912A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.39394486A>T | CA433164593 | SLC25A38 | c.654A>T (p.Val218=) c.651A>T (p.Val217=) c.648A>T (p.Val216=) c.758A>T (p.Ter253Leu) c.702A>T (p.Val234=) c.690A>T (p.Val230=) c.684A>T (p.Val228=) c.522A>T (p.Val174=) c.626-1912A>T (n.626-1912A>T) | |
| 3 | g.39394487A>C | CA352205122 | SLC25A38 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) c.649A>C (p.Thr217Pro) c.759A>C (p.Ter253Tyr) c.703A>C (p.Thr235Pro) c.691A>C (p.Thr231Pro) c.685A>C (p.Thr229Pro) c.523A>C (p.Thr175Pro) c.626-1911A>C (n.626-1911A>C) | |
| 3 | g.39394487A>G | CA352205124 | SLC25A38 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) c.649A>G (p.Thr217Ala) c.759A>G (p.Ter253=) c.703A>G (p.Thr235Ala) c.691A>G (p.Thr231Ala) c.685A>G (p.Thr229Ala) c.523A>G (p.Thr175Ala) c.626-1911A>G (n.626-1911A>G) | gnomAD v4 |
| 3 | g.39394487A>T | CA352205127 | SLC25A38 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) c.649A>T (p.Thr217Ser) c.759A>T (p.Ter253Tyr) c.703A>T (p.Thr235Ser) c.691A>T (p.Thr231Ser) c.685A>T (p.Thr229Ser) c.523A>T (p.Thr175Ser) c.626-1911A>T (n.626-1911A>T) | |
| 3 | g.39394488C>A | CA352205130 | SLC25A38 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) c.650C>A (p.Thr217Asn) c.*1C>A (n.*1C>A) c.704C>A (p.Thr235Asn) c.692C>A (p.Thr231Asn) c.686C>A (p.Thr229Asn) c.524C>A (p.Thr175Asn) c.626-1910C>A (n.626-1910C>A) | |
| 3 | g.39394488C>G | CA352205145 | SLC25A38 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) c.650C>G (p.Thr217Ser) c.*1C>G (n.*1C>G) c.704C>G (p.Thr235Ser) c.692C>G (p.Thr231Ser) c.686C>G (p.Thr229Ser) c.524C>G (p.Thr175Ser) c.626-1910C>G (n.626-1910C>G) | |
| 3 | g.39394488C>T | CA352205147 | SLC25A38 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) c.650C>T (p.Thr217Ile) c.*1C>T (n.*1C>T) c.704C>T (p.Thr235Ile) c.692C>T (p.Thr231Ile) c.686C>T (p.Thr229Ile) c.524C>T (p.Thr175Ile) c.626-1910C>T (n.626-1910C>T) | |
| 3 | g.39394489T>A | CA433164604 | SLC25A38 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) c.651T>A (p.Thr217=) c.*2T>A (n.*2T>A) c.705T>A (p.Thr235=) c.693T>A (p.Thr231=) c.687T>A (p.Thr229=) c.525T>A (p.Thr175=) c.626-1909T>A (n.626-1909T>A) |