Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.39394433C>A | CA352204713 | SLC25A38 | c.601C>A (p.Pro201Thr) c.598C>A (p.Pro200Thr) c.595C>A (p.Pro199Thr) c.722-17C>A (n.722-17C>A) c.649C>A (p.Pro217Thr) c.637C>A (p.Pro213Thr) c.631C>A (p.Pro211Thr) c.469C>A (p.Pro157Thr) c.626-1965C>A (n.626-1965C>A) | |
3 | g.39394433C>G | CA352204714 | SLC25A38 | c.601C>G (p.Pro201Ala) c.598C>G (p.Pro200Ala) c.595C>G (p.Pro199Ala) c.722-17C>G (n.722-17C>G) c.649C>G (p.Pro217Ala) c.637C>G (p.Pro213Ala) c.631C>G (p.Pro211Ala) c.469C>G (p.Pro157Ala) c.626-1965C>G (n.626-1965C>G) | |
3 | g.39394433C>T | CA352204716 | SLC25A38 | c.601C>T (p.Pro201Ser) c.598C>T (p.Pro200Ser) c.595C>T (p.Pro199Ser) c.722-17C>T (n.722-17C>T) c.649C>T (p.Pro217Ser) c.637C>T (p.Pro213Ser) c.631C>T (p.Pro211Ser) c.469C>T (p.Pro157Ser) c.626-1965C>T (n.626-1965C>T) | |
3 | g.39394434C>A | CA352204717 | SLC25A38 | c.602C>A (p.Pro201His) c.599C>A (p.Pro200His) c.596C>A (p.Pro199His) c.722-16C>A (n.722-16C>A) c.650C>A (p.Pro217His) c.638C>A (p.Pro213His) c.632C>A (p.Pro211His) c.470C>A (p.Pro157His) c.626-1964C>A (n.626-1964C>A) | |
3 | g.39394434C= | CA1358939279 | SLC25A38 | c.602C= (p.Pro201=) c.599C= (p.Pro200=) c.596C= (p.Pro199=) c.722-16C= (n.722-16C=) c.650C= (p.Pro217=) c.638C= (p.Pro213=) c.632C= (p.Pro211=) c.470C= (p.Pro157=) c.626-1964C= (n.626-1964C=) | |
3 | g.39394434C>G | CA352204720 | SLC25A38 | c.602C>G (p.Pro201Arg) c.599C>G (p.Pro200Arg) c.596C>G (p.Pro199Arg) c.722-16C>G (n.722-16C>G) c.650C>G (p.Pro217Arg) c.638C>G (p.Pro213Arg) c.632C>G (p.Pro211Arg) c.470C>G (p.Pro157Arg) c.626-1964C>G (n.626-1964C>G) | |
3 | g.39394434C>T | CA352204718 | SLC25A38 | c.602C>T (p.Pro201Leu) c.599C>T (p.Pro200Leu) c.596C>T (p.Pro199Leu) c.722-16C>T (n.722-16C>T) c.650C>T (p.Pro217Leu) c.638C>T (p.Pro213Leu) c.632C>T (p.Pro211Leu) c.470C>T (p.Pro157Leu) c.626-1964C>T (n.626-1964C>T) | dbSNP gnomAD v4 |
3 | g.39394435T>A | CA433164210 | SLC25A38 | c.603T>A (p.Pro201=) c.600T>A (p.Pro200=) c.597T>A (p.Pro199=) c.722-15T>A (n.722-15T>A) c.651T>A (p.Pro217=) c.639T>A (p.Pro213=) c.633T>A (p.Pro211=) c.471T>A (p.Pro157=) c.626-1963T>A (n.626-1963T>A) | |
3 | g.39394435T>C | CA433164211 | SLC25A38 | c.603T>C (p.Pro201=) c.600T>C (p.Pro200=) c.597T>C (p.Pro199=) c.722-15T>C (n.722-15T>C) c.651T>C (p.Pro217=) c.639T>C (p.Pro213=) c.633T>C (p.Pro211=) c.471T>C (p.Pro157=) c.626-1963T>C (n.626-1963T>C) | gnomAD v4 |
3 | g.39394435T>G | CA433164212 | SLC25A38 | c.603T>G (p.Pro201=) c.600T>G (p.Pro200=) c.597T>G (p.Pro199=) c.722-15T>G (n.722-15T>G) c.651T>G (p.Pro217=) c.639T>G (p.Pro213=) c.633T>G (p.Pro211=) c.471T>G (p.Pro157=) c.626-1963T>G (n.626-1963T>G) | |
3 | g.39394436A= | CA1358939280 | SLC25A38 | c.604A= (p.Ile202=) c.601A= (p.Ile201=) c.598A= (p.Ile200=) c.722-14A= (n.722-14A=) c.652A= (p.Ile218=) c.640A= (p.Ile214=) c.634A= (p.Ile212=) c.472A= (p.Ile158=) c.626-1962A= (n.626-1962A=) | |
3 | g.39394436A>C | CA352204722 | SLC25A38 | c.604A>C (p.Ile202Leu) c.601A>C (p.Ile201Leu) c.598A>C (p.Ile200Leu) c.722-14A>C (n.722-14A>C) c.652A>C (p.Ile218Leu) c.640A>C (p.Ile214Leu) c.634A>C (p.Ile212Leu) c.472A>C (p.Ile158Leu) c.626-1962A>C (n.626-1962A>C) | |
3 | g.39394436A>G | CA352204726 | SLC25A38 | c.604A>G (p.Ile202Val) c.601A>G (p.Ile201Val) c.598A>G (p.Ile200Val) c.722-14A>G (n.722-14A>G) c.652A>G (p.Ile218Val) c.640A>G (p.Ile214Val) c.634A>G (p.Ile212Val) c.472A>G (p.Ile158Val) c.626-1962A>G (n.626-1962A>G) | |
3 | g.39394436A>T | CA2327526 | SLC25A38 | c.604A>T (p.Ile202Phe) c.601A>T (p.Ile201Phe) c.598A>T (p.Ile200Phe) c.722-14A>T (n.722-14A>T) c.652A>T (p.Ile218Phe) c.640A>T (p.Ile214Phe) c.634A>T (p.Ile212Phe) c.472A>T (p.Ile158Phe) c.626-1962A>T (n.626-1962A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394437T>A | CA352204729 | SLC25A38 | c.605T>A (p.Ile202Asn) c.602T>A (p.Ile201Asn) c.599T>A (p.Ile200Asn) c.722-13T>A (n.722-13T>A) c.653T>A (p.Ile218Asn) c.641T>A (p.Ile214Asn) c.635T>A (p.Ile212Asn) c.473T>A (p.Ile158Asn) c.626-1961T>A (n.626-1961T>A) | |
3 | g.39394437T>C | CA352204730 | SLC25A38 | c.605T>C (p.Ile202Thr) c.602T>C (p.Ile201Thr) c.599T>C (p.Ile200Thr) c.722-13T>C (n.722-13T>C) c.653T>C (p.Ile218Thr) c.641T>C (p.Ile214Thr) c.635T>C (p.Ile212Thr) c.473T>C (p.Ile158Thr) c.626-1961T>C (n.626-1961T>C) | |
3 | g.39394437T>G | CA352204731 | SLC25A38 | c.605T>G (p.Ile202Ser) c.602T>G (p.Ile201Ser) c.599T>G (p.Ile200Ser) c.722-13T>G (n.722-13T>G) c.653T>G (p.Ile218Ser) c.641T>G (p.Ile214Ser) c.635T>G (p.Ile212Ser) c.473T>G (p.Ile158Ser) c.626-1961T>G (n.626-1961T>G) | |
3 | g.39394438T>A | CA433164236 | SLC25A38 | c.606T>A (p.Ile202=) c.603T>A (p.Ile201=) c.600T>A (p.Ile200=) c.722-12T>A (n.722-12T>A) c.654T>A (p.Ile218=) c.642T>A (p.Ile214=) c.636T>A (p.Ile212=) c.474T>A (p.Ile158=) c.626-1960T>A (n.626-1960T>A) | |
3 | g.39394438T>C | CA433164240 | SLC25A38 | c.606T>C (p.Ile202=) c.603T>C (p.Ile201=) c.600T>C (p.Ile200=) c.722-12T>C (n.722-12T>C) c.654T>C (p.Ile218=) c.642T>C (p.Ile214=) c.636T>C (p.Ile212=) c.474T>C (p.Ile158=) c.626-1960T>C (n.626-1960T>C) | |
3 | g.39394438T>G | CA352204733 | SLC25A38 | c.606T>G (p.Ile202Met) c.603T>G (p.Ile201Met) c.600T>G (p.Ile200Met) c.722-12T>G (n.722-12T>G) c.654T>G (p.Ile218Met) c.642T>G (p.Ile214Met) c.636T>G (p.Ile212Met) c.474T>G (p.Ile158Met) c.626-1960T>G (n.626-1960T>G) | dbSNP |
3 | g.39394438T= | CA1358939281 | SLC25A38 | c.606T= (p.Ile202=) c.603T= (p.Ile201=) c.600T= (p.Ile200=) c.722-12T= (n.722-12T=) c.654T= (p.Ile218=) c.642T= (p.Ile214=) c.636T= (p.Ile212=) c.474T= (p.Ile158=) c.626-1960T= (n.626-1960T=) | |
3 | g.39394439A= | CA1358939282 | SLC25A38 | c.607A= (p.Thr203=) c.604A= (p.Thr202=) c.601A= (p.Thr201=) c.722-11A= (n.722-11A=) c.655A= (p.Thr219=) c.643A= (p.Thr215=) c.637A= (p.Thr213=) c.475A= (p.Thr159=) c.626-1959A= (n.626-1959A=) | |
3 | g.39394439A>C | CA352204736 | SLC25A38 | c.607A>C (p.Thr203Pro) c.604A>C (p.Thr202Pro) c.601A>C (p.Thr201Pro) c.722-11A>C (n.722-11A>C) c.655A>C (p.Thr219Pro) c.643A>C (p.Thr215Pro) c.637A>C (p.Thr213Pro) c.475A>C (p.Thr159Pro) c.626-1959A>C (n.626-1959A>C) | |
3 | g.39394439A>G | CA2327527 | SLC25A38 | c.607A>G (p.Thr203Ala) c.604A>G (p.Thr202Ala) c.601A>G (p.Thr201Ala) c.722-11A>G (n.722-11A>G) c.655A>G (p.Thr219Ala) c.643A>G (p.Thr215Ala) c.637A>G (p.Thr213Ala) c.475A>G (p.Thr159Ala) c.626-1959A>G (n.626-1959A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394439A>T | CA352204737 | SLC25A38 | c.607A>T (p.Thr203Ser) c.604A>T (p.Thr202Ser) c.601A>T (p.Thr201Ser) c.722-11A>T (n.722-11A>T) c.655A>T (p.Thr219Ser) c.643A>T (p.Thr215Ser) c.637A>T (p.Thr213Ser) c.475A>T (p.Thr159Ser) c.626-1959A>T (n.626-1959A>T) | |
3 | g.39394440C>A | CA352204738 | SLC25A38 | c.608C>A (p.Thr203Lys) c.605C>A (p.Thr202Lys) c.602C>A (p.Thr201Lys) c.722-10C>A (n.722-10C>A) c.656C>A (p.Thr219Lys) c.644C>A (p.Thr215Lys) c.638C>A (p.Thr213Lys) c.476C>A (p.Thr159Lys) c.626-1958C>A (n.626-1958C>A) | |
3 | g.39394440C>G | CA352204739 | SLC25A38 | c.608C>G (p.Thr203Arg) c.605C>G (p.Thr202Arg) c.602C>G (p.Thr201Arg) c.722-10C>G (n.722-10C>G) c.656C>G (p.Thr219Arg) c.644C>G (p.Thr215Arg) c.638C>G (p.Thr213Arg) c.476C>G (p.Thr159Arg) c.626-1958C>G (n.626-1958C>G) | |
3 | g.39394440C>T | CA352204742 | SLC25A38 | c.608C>T (p.Thr203Ile) c.605C>T (p.Thr202Ile) c.602C>T (p.Thr201Ile) c.722-10C>T (n.722-10C>T) c.656C>T (p.Thr219Ile) c.644C>T (p.Thr215Ile) c.638C>T (p.Thr213Ile) c.476C>T (p.Thr159Ile) c.626-1958C>T (n.626-1958C>T) | gnomAD v4 |
3 | g.39394441A= | CA1358939283 | SLC25A38 | c.609A= (p.Thr203=) c.606A= (p.Thr202=) c.603A= (p.Thr201=) c.722-9A= (n.722-9A=) c.657A= (p.Thr219=) c.645A= (p.Thr215=) c.639A= (p.Thr213=) c.477A= (p.Thr159=) c.626-1957A= (n.626-1957A=) | |
3 | g.39394441A>C | CA433164258 | SLC25A38 | c.609A>C (p.Thr203=) c.606A>C (p.Thr202=) c.603A>C (p.Thr201=) c.722-9A>C (n.722-9A>C) c.657A>C (p.Thr219=) c.645A>C (p.Thr215=) c.639A>C (p.Thr213=) c.477A>C (p.Thr159=) c.626-1957A>C (n.626-1957A>C) | |
3 | g.39394441A>G | CA433164254 | SLC25A38 | c.609A>G (p.Thr203=) c.606A>G (p.Thr202=) c.603A>G (p.Thr201=) c.722-9A>G (n.722-9A>G) c.657A>G (p.Thr219=) c.645A>G (p.Thr215=) c.639A>G (p.Thr213=) c.477A>G (p.Thr159=) c.626-1957A>G (n.626-1957A>G) | |
3 | g.39394441A>T | CA433164255 | SLC25A38 | c.609A>T (p.Thr203=) c.606A>T (p.Thr202=) c.603A>T (p.Thr201=) c.722-9A>T (n.722-9A>T) c.657A>T (p.Thr219=) c.645A>T (p.Thr215=) c.639A>T (p.Thr213=) c.477A>T (p.Thr159=) c.626-1957A>T (n.626-1957A>T) | dbSNP |
3 | g.39394442A= | CA1358939284 | SLC25A38 | c.610A= (p.Asn204=) c.607A= (p.Asn203=) c.604A= (p.Asn202=) c.722-8A= (n.722-8A=) c.658A= (p.Asn220=) c.646A= (p.Asn216=) c.640A= (p.Asn214=) c.478A= (p.Asn160=) c.626-1956A= (n.626-1956A=) | |
3 | g.39394442A>C | CA352204751 | SLC25A38 | c.610A>C (p.Asn204His) c.607A>C (p.Asn203His) c.604A>C (p.Asn202His) c.722-8A>C (n.722-8A>C) c.658A>C (p.Asn220His) c.646A>C (p.Asn216His) c.640A>C (p.Asn214His) c.478A>C (p.Asn160His) c.626-1956A>C (n.626-1956A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394442A>G | CA352204747 | SLC25A38 | c.610A>G (p.Asn204Asp) c.607A>G (p.Asn203Asp) c.604A>G (p.Asn202Asp) c.722-8A>G (n.722-8A>G) c.658A>G (p.Asn220Asp) c.646A>G (p.Asn216Asp) c.640A>G (p.Asn214Asp) c.478A>G (p.Asn160Asp) c.626-1956A>G (n.626-1956A>G) | |
3 | g.39394442A>T | CA352204746 | SLC25A38 | c.610A>T (p.Asn204Tyr) c.607A>T (p.Asn203Tyr) c.604A>T (p.Asn202Tyr) c.722-8A>T (n.722-8A>T) c.658A>T (p.Asn220Tyr) c.646A>T (p.Asn216Tyr) c.640A>T (p.Asn214Tyr) c.478A>T (p.Asn160Tyr) c.626-1956A>T (n.626-1956A>T) | |
3 | g.39394443A>C | CA352204757 | SLC25A38 | c.611A>C (p.Asn204Thr) c.608A>C (p.Asn203Thr) c.605A>C (p.Asn202Thr) c.722-7A>C (n.722-7A>C) c.659A>C (p.Asn220Thr) c.647A>C (p.Asn216Thr) c.641A>C (p.Asn214Thr) c.479A>C (p.Asn160Thr) c.626-1955A>C (n.626-1955A>C) | |
3 | g.39394443A>G | CA352204763 | SLC25A38 | c.611A>G (p.Asn204Ser) c.608A>G (p.Asn203Ser) c.605A>G (p.Asn202Ser) c.722-7A>G (n.722-7A>G) c.659A>G (p.Asn220Ser) c.647A>G (p.Asn216Ser) c.641A>G (p.Asn214Ser) c.479A>G (p.Asn160Ser) c.626-1955A>G (n.626-1955A>G) | |
3 | g.39394443A>T | CA352204766 | SLC25A38 | c.611A>T (p.Asn204Ile) c.608A>T (p.Asn203Ile) c.605A>T (p.Asn202Ile) c.722-7A>T (n.722-7A>T) c.659A>T (p.Asn220Ile) c.647A>T (p.Asn216Ile) c.641A>T (p.Asn214Ile) c.479A>T (p.Asn160Ile) c.626-1955A>T (n.626-1955A>T) | |
3 | g.39394444T>A | CA352204769 | SLC25A38 | c.612T>A (p.Asn204Lys) c.609T>A (p.Asn203Lys) c.606T>A (p.Asn202Lys) c.722-6T>A (n.722-6T>A) c.660T>A (p.Asn220Lys) c.648T>A (p.Asn216Lys) c.642T>A (p.Asn214Lys) c.480T>A (p.Asn160Lys) c.626-1954T>A (n.626-1954T>A) | |
3 | g.39394444T>C | CA433164292 | SLC25A38 | c.612T>C (p.Asn204=) c.609T>C (p.Asn203=) c.606T>C (p.Asn202=) c.722-6T>C (n.722-6T>C) c.660T>C (p.Asn220=) c.648T>C (p.Asn216=) c.642T>C (p.Asn214=) c.480T>C (p.Asn160=) c.626-1954T>C (n.626-1954T>C) | |
3 | g.39394444T>G | CA352204772 | SLC25A38 | c.612T>G (p.Asn204Lys) c.609T>G (p.Asn203Lys) c.606T>G (p.Asn202Lys) c.722-6T>G (n.722-6T>G) c.660T>G (p.Asn220Lys) c.648T>G (p.Asn216Lys) c.642T>G (p.Asn214Lys) c.480T>G (p.Asn160Lys) c.626-1954T>G (n.626-1954T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394444T= | CA1358939285 | SLC25A38 | c.612T= (p.Asn204=) c.609T= (p.Asn203=) c.606T= (p.Asn202=) c.722-6T= (n.722-6T=) c.660T= (p.Asn220=) c.648T= (p.Asn216=) c.642T= (p.Asn214=) c.480T= (p.Asn160=) c.626-1954T= (n.626-1954T=) | |
3 | g.39394445T>A | CA352204773 | SLC25A38 | c.613T>A (p.Phe205Ile) c.610T>A (p.Phe204Ile) c.607T>A (p.Phe203Ile) c.722-5T>A (n.722-5T>A) c.661T>A (p.Phe221Ile) c.649T>A (p.Phe217Ile) c.643T>A (p.Phe215Ile) c.481T>A (p.Phe161Ile) c.626-1953T>A (n.626-1953T>A) | |
3 | g.39394445T>C | CA2327528 | SLC25A38 | c.613T>C (p.Phe205Leu) c.610T>C (p.Phe204Leu) c.607T>C (p.Phe203Leu) c.722-5T>C (n.722-5T>C) c.661T>C (p.Phe221Leu) c.649T>C (p.Phe217Leu) c.643T>C (p.Phe215Leu) c.481T>C (p.Phe161Leu) c.626-1953T>C (n.626-1953T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394445T>G | CA352204778 | SLC25A38 | c.613T>G (p.Phe205Val) c.610T>G (p.Phe204Val) c.607T>G (p.Phe203Val) c.722-5T>G (n.722-5T>G) c.661T>G (p.Phe221Val) c.649T>G (p.Phe217Val) c.643T>G (p.Phe215Val) c.481T>G (p.Phe161Val) c.626-1953T>G (n.626-1953T>G) | |
3 | g.39394445T= | CA1358939286 | SLC25A38 | c.613T= (p.Phe205=) c.610T= (p.Phe204=) c.607T= (p.Phe203=) c.722-5T= (n.722-5T=) c.661T= (p.Phe221=) c.649T= (p.Phe217=) c.643T= (p.Phe215=) c.481T= (p.Phe161=) c.626-1953T= (n.626-1953T=) | |
3 | g.39394446T>A | CA352204781 | SLC25A38 | c.614T>A (p.Phe205Tyr) c.611T>A (p.Phe204Tyr) c.608T>A (p.Phe203Tyr) c.722-4T>A (n.722-4T>A) c.662T>A (p.Phe221Tyr) c.650T>A (p.Phe217Tyr) c.644T>A (p.Phe215Tyr) c.482T>A (p.Phe161Tyr) c.626-1952T>A (n.626-1952T>A) | |
3 | g.39394446T>C | CA73040716 | SLC25A38 | c.614T>C (p.Phe205Ser) c.611T>C (p.Phe204Ser) c.608T>C (p.Phe203Ser) c.722-4T>C (n.722-4T>C) c.662T>C (p.Phe221Ser) c.650T>C (p.Phe217Ser) c.644T>C (p.Phe215Ser) c.482T>C (p.Phe161Ser) c.626-1952T>C (n.626-1952T>C) | dbSNP |
3 | g.39394446T>G | CA352204785 | SLC25A38 | c.614T>G (p.Phe205Cys) c.611T>G (p.Phe204Cys) c.608T>G (p.Phe203Cys) c.722-4T>G (n.722-4T>G) c.662T>G (p.Phe221Cys) c.650T>G (p.Phe217Cys) c.644T>G (p.Phe215Cys) c.482T>G (p.Phe161Cys) c.626-1952T>G (n.626-1952T>G) | |
3 | g.39394446T= | CA1358939287 | SLC25A38 | c.614T= (p.Phe205=) c.611T= (p.Phe204=) c.608T= (p.Phe203=) c.722-4T= (n.722-4T=) c.662T= (p.Phe221=) c.650T= (p.Phe217=) c.644T= (p.Phe215=) c.482T= (p.Phe161=) c.626-1952T= (n.626-1952T=) | |
3 | g.39394447C>A | CA352204786 | SLC25A38 | c.615C>A (p.Phe205Leu) c.612C>A (p.Phe204Leu) c.609C>A (p.Phe203Leu) c.722-3C>A (n.722-3C>A) c.663C>A (p.Phe221Leu) c.651C>A (p.Phe217Leu) c.645C>A (p.Phe215Leu) c.483C>A (p.Phe161Leu) c.626-1951C>A (n.626-1951C>A) | |
3 | g.39394447C>G | CA352204789 | SLC25A38 | c.615C>G (p.Phe205Leu) c.612C>G (p.Phe204Leu) c.609C>G (p.Phe203Leu) c.722-3C>G (n.722-3C>G) c.663C>G (p.Phe221Leu) c.651C>G (p.Phe217Leu) c.645C>G (p.Phe215Leu) c.483C>G (p.Phe161Leu) c.626-1951C>G (n.626-1951C>G) | |
3 | g.39394447C>T | CA433164328 | SLC25A38 | c.615C>T (p.Phe205=) c.612C>T (p.Phe204=) c.609C>T (p.Phe203=) c.722-3C>T (n.722-3C>T) c.663C>T (p.Phe221=) c.651C>T (p.Phe217=) c.645C>T (p.Phe215=) c.483C>T (p.Phe161=) c.626-1951C>T (n.626-1951C>T) | |
3 | g.39394448A>C | CA352204796 | SLC25A38 | c.616A>C (p.Ser206Arg) c.613A>C (p.Ser205Arg) c.610A>C (p.Ser204Arg) c.722-2A>C (n.722-2A>C) c.664A>C (p.Ser222Arg) c.652A>C (p.Ser218Arg) c.646A>C (p.Ser216Arg) c.484A>C (p.Ser162Arg) c.626-1950A>C (n.626-1950A>C) | |
3 | g.39394448A>G | CA352204797 | SLC25A38 | c.616A>G (p.Ser206Gly) c.613A>G (p.Ser205Gly) c.610A>G (p.Ser204Gly) c.722-2A>G (n.722-2A>G) c.664A>G (p.Ser222Gly) c.652A>G (p.Ser218Gly) c.646A>G (p.Ser216Gly) c.484A>G (p.Ser162Gly) c.626-1950A>G (n.626-1950A>G) | |
3 | g.39394448A>T | CA352204794 | SLC25A38 | c.616A>T (p.Ser206Cys) c.613A>T (p.Ser205Cys) c.610A>T (p.Ser204Cys) c.722-2A>T (n.722-2A>T) c.664A>T (p.Ser222Cys) c.652A>T (p.Ser218Cys) c.646A>T (p.Ser216Cys) c.484A>T (p.Ser162Cys) c.626-1950A>T (n.626-1950A>T) | gnomAD v4 |
3 | g.39394448_39394462delinsAGCTGTGGGATATTT | CA1358939288 | SLC25A38 | c.616_630delinsAGCTGTGGGATATTT (p.Ser206=) c.613_627delinsAGCTGTGGGATATTT (p.Ser205=) c.610_624delinsAGCTGTGGGATATTT (p.Ser204=) c.722-2_734delinsAGCTGTGGGATATTT c.664_678delinsAGCTGTGGGATATTT (p.Ser222=) c.652_666delinsAGCTGTGGGATATTT (p.Ser218=) c.646_660delinsAGCTGTGGGATATTT (p.Ser216=) c.484_498delinsAGCTGTGGGATATTT (p.Ser162=) c.626-1950_626-1936delinsAGCTGTGGGATATTT (n.626-1950_626-1936delinsAGCTGTGGGATATTT) | |
3 | g.39394449G>A | CA352204798 | SLC25A38 | c.617G>A (p.Ser206Asn) c.614G>A (p.Ser205Asn) c.611G>A (p.Ser204Asn) c.722-1G>A (n.722-1G>A) c.665G>A (p.Ser222Asn) c.653G>A (p.Ser218Asn) c.647G>A (p.Ser216Asn) c.485G>A (p.Ser162Asn) c.626-1949G>A (n.626-1949G>A) | |
3 | g.39394449G>C | CA352204799 | SLC25A38 | c.617G>C (p.Ser206Thr) c.614G>C (p.Ser205Thr) c.611G>C (p.Ser204Thr) c.722-1G>C (n.722-1G>C) c.665G>C (p.Ser222Thr) c.653G>C (p.Ser218Thr) c.647G>C (p.Ser216Thr) c.485G>C (p.Ser162Thr) c.626-1949G>C (n.626-1949G>C) | |
3 | g.39394449G>T | CA352204801 | SLC25A38 | c.617G>T (p.Ser206Ile) c.614G>T (p.Ser205Ile) c.611G>T (p.Ser204Ile) c.722-1G>T (n.722-1G>T) c.665G>T (p.Ser222Ile) c.653G>T (p.Ser218Ile) c.647G>T (p.Ser216Ile) c.485G>T (p.Ser162Ile) c.626-1949G>T (n.626-1949G>T) | |
3 | g.39394453_39394466del | CA2327529 | SLC25A38 | c.621_634del (p.Cys207TrpfsTer?) c.618_631del (p.Cys206TrpfsTer?) c.615_628del (p.Cys205TrpfsTer?) c.725_738del c.669_682del (p.Cys223TrpfsTer?) c.657_670del (p.Cys219TrpfsTer?) c.651_664del (p.Cys217TrpfsTer?) c.489_502del (p.Cys163TrpfsTer?) c.626-1945_626-1932del (n.626-1945_626-1932del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394450C>A | CA352204807 | SLC25A38 | c.618C>A (p.Ser206Arg) c.615C>A (p.Ser205Arg) c.612C>A (p.Ser204Arg) c.722C>A (p.Ala241Asp) c.666C>A (p.Ser222Arg) c.654C>A (p.Ser218Arg) c.648C>A (p.Ser216Arg) c.486C>A (p.Ser162Arg) c.626-1948C>A (n.626-1948C>A) | |
3 | g.39394450C>G | CA352204809 | SLC25A38 | c.618C>G (p.Ser206Arg) c.615C>G (p.Ser205Arg) c.612C>G (p.Ser204Arg) c.722C>G (p.Ala241Gly) c.666C>G (p.Ser222Arg) c.654C>G (p.Ser218Arg) c.648C>G (p.Ser216Arg) c.486C>G (p.Ser162Arg) c.626-1948C>G (n.626-1948C>G) | |
3 | g.39394450C>T | CA433164351 | SLC25A38 | c.618C>T (p.Ser206=) c.615C>T (p.Ser205=) c.612C>T (p.Ser204=) c.722C>T (p.Ala241Val) c.666C>T (p.Ser222=) c.654C>T (p.Ser218=) c.648C>T (p.Ser216=) c.486C>T (p.Ser162=) c.626-1948C>T (n.626-1948C>T) | |
3 | g.39394451T>A | CA352204826 | SLC25A38 | c.619T>A (p.Cys207Ser) c.616T>A (p.Cys206Ser) c.613T>A (p.Cys205Ser) c.723T>A (p.Ala241=) c.667T>A (p.Cys223Ser) c.655T>A (p.Cys219Ser) c.649T>A (p.Cys217Ser) c.487T>A (p.Cys163Ser) c.626-1947T>A (n.626-1947T>A) | |
3 | g.39394451T>C | CA352204837 | SLC25A38 | c.619T>C (p.Cys207Arg) c.616T>C (p.Cys206Arg) c.613T>C (p.Cys205Arg) c.723T>C (p.Ala241=) c.667T>C (p.Cys223Arg) c.655T>C (p.Cys219Arg) c.649T>C (p.Cys217Arg) c.487T>C (p.Cys163Arg) c.626-1947T>C (n.626-1947T>C) | |
3 | g.39394451T>G | CA352204839 | SLC25A38 | c.619T>G (p.Cys207Gly) c.616T>G (p.Cys206Gly) c.613T>G (p.Cys205Gly) c.723T>G (p.Ala241=) c.667T>G (p.Cys223Gly) c.655T>G (p.Cys219Gly) c.649T>G (p.Cys217Gly) c.487T>G (p.Cys163Gly) c.626-1947T>G (n.626-1947T>G) | |
3 | g.39394452G>A | CA352204840 | SLC25A38 | c.620G>A (p.Cys207Tyr) c.617G>A (p.Cys206Tyr) c.614G>A (p.Cys205Tyr) c.724G>A (p.Val242Met) c.668G>A (p.Cys223Tyr) c.656G>A (p.Cys219Tyr) c.650G>A (p.Cys217Tyr) c.488G>A (p.Cys163Tyr) c.626-1946G>A (n.626-1946G>A) | gnomAD v4 |
3 | g.39394452G>C | CA352204842 | SLC25A38 | c.620G>C (p.Cys207Ser) c.617G>C (p.Cys206Ser) c.614G>C (p.Cys205Ser) c.724G>C (p.Val242Leu) c.668G>C (p.Cys223Ser) c.656G>C (p.Cys219Ser) c.650G>C (p.Cys217Ser) c.488G>C (p.Cys163Ser) c.626-1946G>C (n.626-1946G>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394452G= | CA1358939289 | SLC25A38 | c.620G= (p.Cys207=) c.617G= (p.Cys206=) c.614G= (p.Cys205=) c.724G= (p.Val242=) c.668G= (p.Cys223=) c.656G= (p.Cys219=) c.650G= (p.Cys217=) c.488G= (p.Cys163=) c.626-1946G= (n.626-1946G=) | |
3 | g.39394452G>T | CA352204843 | SLC25A38 | c.620G>T (p.Cys207Phe) c.617G>T (p.Cys206Phe) c.614G>T (p.Cys205Phe) c.724G>T (p.Val242Leu) c.668G>T (p.Cys223Phe) c.656G>T (p.Cys219Phe) c.650G>T (p.Cys217Phe) c.488G>T (p.Cys163Phe) c.626-1946G>T (n.626-1946G>T) | |
3 | g.39394453T>A | CA352204850 | SLC25A38 | c.621T>A (p.Cys207Ter) c.618T>A (p.Cys206Ter) c.615T>A (p.Cys205Ter) c.725T>A (p.Val242Glu) c.669T>A (p.Cys223Ter) c.657T>A (p.Cys219Ter) c.651T>A (p.Cys217Ter) c.489T>A (p.Cys163Ter) c.626-1945T>A (n.626-1945T>A) | |
3 | g.39394453T>C | CA433164373 | SLC25A38 | c.621T>C (p.Cys207=) c.618T>C (p.Cys206=) c.615T>C (p.Cys205=) c.725T>C (p.Val242Ala) c.669T>C (p.Cys223=) c.657T>C (p.Cys219=) c.651T>C (p.Cys217=) c.489T>C (p.Cys163=) c.626-1945T>C (n.626-1945T>C) | |
3 | g.39394453T>G | CA352204846 | SLC25A38 | c.621T>G (p.Cys207Trp) c.618T>G (p.Cys206Trp) c.615T>G (p.Cys205Trp) c.725T>G (p.Val242Gly) c.669T>G (p.Cys223Trp) c.657T>G (p.Cys219Trp) c.651T>G (p.Cys217Trp) c.489T>G (p.Cys163Trp) c.626-1945T>G (n.626-1945T>G) | |
3 | g.39394454G>A | CA352204873 | SLC25A38 | c.622G>A (p.Gly208Arg) c.619G>A (p.Gly207Arg) c.616G>A (p.Gly206Arg) c.726G>A (p.Val242=) c.670G>A (p.Gly224Arg) c.658G>A (p.Gly220Arg) c.652G>A (p.Gly218Arg) c.490G>A (p.Gly164Arg) c.626-1944G>A (n.626-1944G>A) | gnomAD v4 |
3 | g.39394454G>C | CA352204876 | SLC25A38 | c.622G>C (p.Gly208Arg) c.619G>C (p.Gly207Arg) c.616G>C (p.Gly206Arg) c.726G>C (p.Val242=) c.670G>C (p.Gly224Arg) c.658G>C (p.Gly220Arg) c.652G>C (p.Gly218Arg) c.490G>C (p.Gly164Arg) c.626-1944G>C (n.626-1944G>C) | |
3 | g.39394454G>T | CA352204885 | SLC25A38 | c.622G>T (p.Gly208Trp) c.619G>T (p.Gly207Trp) c.616G>T (p.Gly206Trp) c.726G>T (p.Val242=) c.670G>T (p.Gly224Trp) c.658G>T (p.Gly220Trp) c.652G>T (p.Gly218Trp) c.490G>T (p.Gly164Trp) c.626-1944G>T (n.626-1944G>T) | |
3 | g.39394455G>A | CA352204888 | SLC25A38 | c.623G>A (p.Gly208Glu) c.620G>A (p.Gly207Glu) c.617G>A (p.Gly206Glu) c.727G>A (p.Gly243Arg) c.671G>A (p.Gly224Glu) c.659G>A (p.Gly220Glu) c.653G>A (p.Gly218Glu) c.491G>A (p.Gly164Glu) c.626-1943G>A (n.626-1943G>A) | |
3 | g.39394455G>C | CA352204891 | SLC25A38 | c.623G>C (p.Gly208Ala) c.620G>C (p.Gly207Ala) c.617G>C (p.Gly206Ala) c.727G>C (p.Gly243Arg) c.671G>C (p.Gly224Ala) c.659G>C (p.Gly220Ala) c.653G>C (p.Gly218Ala) c.491G>C (p.Gly164Ala) c.626-1943G>C (n.626-1943G>C) | gnomAD v4 |
3 | g.39394455G= | CA1358939290 | SLC25A38 | c.623G= (p.Gly208=) c.620G= (p.Gly207=) c.617G= (p.Gly206=) c.727G= (p.Gly243=) c.671G= (p.Gly224=) c.659G= (p.Gly220=) c.653G= (p.Gly218=) c.491G= (p.Gly164=) c.626-1943G= (n.626-1943G=) | |
3 | g.39394455G>T | CA352204894 | SLC25A38 | c.623G>T (p.Gly208Val) c.620G>T (p.Gly207Val) c.617G>T (p.Gly206Val) c.727G>T (p.Gly243Ter) c.671G>T (p.Gly224Val) c.659G>T (p.Gly220Val) c.653G>T (p.Gly218Val) c.491G>T (p.Gly164Val) c.626-1943G>T (n.626-1943G>T) | |
3 | g.39394455_39394456insT | CA915942371 | SLC25A38 | c.623_624insT (p.Ile209AspfsTer?) c.620_621insT (p.Ile208AspfsTer?) c.617_618insT (p.Ile207AspfsTer?) c.727_728insT (p.Gly243ValfsTer?) c.671_672insT (p.Ile225AspfsTer?) c.659_660insT (p.Ile221AspfsTer?) c.653_654insT (p.Ile219AspfsTer?) c.491_492insT (p.Ile165AspfsTer?) c.626-1943_626-1942insT (n.626-1943_626-1942insT) | ClinVar dbSNP |
3 | g.39394456G>A | CA433164393 | SLC25A38 | c.624G>A (p.Gly208=) c.621G>A (p.Gly207=) c.618G>A (p.Gly206=) c.728G>A (p.Gly243Glu) c.672G>A (p.Gly224=) c.660G>A (p.Gly220=) c.654G>A (p.Gly218=) c.492G>A (p.Gly164=) c.626-1942G>A (n.626-1942G>A) | |
3 | g.39394456G>C | CA433164394 | SLC25A38 | c.624G>C (p.Gly208=) c.621G>C (p.Gly207=) c.618G>C (p.Gly206=) c.728G>C (p.Gly243Ala) c.672G>C (p.Gly224=) c.660G>C (p.Gly220=) c.654G>C (p.Gly218=) c.492G>C (p.Gly164=) c.626-1942G>C (n.626-1942G>C) | |
3 | g.39394456G>T | CA433164395 | SLC25A38 | c.624G>T (p.Gly208=) c.621G>T (p.Gly207=) c.618G>T (p.Gly206=) c.728G>T (p.Gly243Val) c.672G>T (p.Gly224=) c.660G>T (p.Gly220=) c.654G>T (p.Gly218=) c.492G>T (p.Gly164=) c.626-1942G>T (n.626-1942G>T) | |
3 | g.39394456delinsTT | CA2499216773 | SLC25A38 | c.624delinsTT (p.Ile209TyrfsTer?) c.621delinsTT (p.Ile208TyrfsTer?) c.618delinsTT (p.Ile207TyrfsTer?) c.728delinsTT (p.Gly243ValfsTer?) c.672delinsTT (p.Ile225TyrfsTer?) c.660delinsTT (p.Ile221TyrfsTer?) c.654delinsTT (p.Ile219TyrfsTer?) c.492delinsTT (p.Ile165TyrfsTer?) c.626-1942delinsTT (n.626-1942delinsTT) | ClinVar dbSNP |
3 | g.39394457A>C | CA352204900 | SLC25A38 | c.625A>C (p.Ile209Leu) c.622A>C (p.Ile208Leu) c.619A>C (p.Ile207Leu) c.729A>C (p.Gly243=) c.673A>C (p.Ile225Leu) c.661A>C (p.Ile221Leu) c.655A>C (p.Ile219Leu) c.493A>C (p.Ile165Leu) c.626-1941A>C (n.626-1941A>C) | |
3 | g.39394457A>G | CA352204910 | SLC25A38 | c.625A>G (p.Ile209Val) c.622A>G (p.Ile208Val) c.619A>G (p.Ile207Val) c.729A>G (p.Gly243=) c.673A>G (p.Ile225Val) c.661A>G (p.Ile221Val) c.655A>G (p.Ile219Val) c.493A>G (p.Ile165Val) c.626-1941A>G (n.626-1941A>G) | gnomAD v4 |
3 | g.39394457A>T | CA352204912 | SLC25A38 | c.625A>T (p.Ile209Leu) c.622A>T (p.Ile208Leu) c.619A>T (p.Ile207Leu) c.729A>T (p.Gly243=) c.673A>T (p.Ile225Leu) c.661A>T (p.Ile221Leu) c.655A>T (p.Ile219Leu) c.493A>T (p.Ile165Leu) c.626-1941A>T (n.626-1941A>T) | |
3 | g.39394458T>A | CA352204917 | SLC25A38 | c.626T>A (p.Ile209Lys) c.623T>A (p.Ile208Lys) c.620T>A (p.Ile207Lys) c.730T>A (p.Tyr244Asn) c.674T>A (p.Ile225Lys) c.662T>A (p.Ile221Lys) c.656T>A (p.Ile219Lys) c.494T>A (p.Ile165Lys) c.626-1940T>A (n.626-1940T>A) | |
3 | g.39394458T>C | CA2327530 | SLC25A38 | c.626T>C (p.Ile209Thr) c.623T>C (p.Ile208Thr) c.620T>C (p.Ile207Thr) c.730T>C (p.Tyr244His) c.674T>C (p.Ile225Thr) c.662T>C (p.Ile221Thr) c.656T>C (p.Ile219Thr) c.494T>C (p.Ile165Thr) c.626-1940T>C (n.626-1940T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394458T>G | CA352204926 | SLC25A38 | c.626T>G (p.Ile209Arg) c.623T>G (p.Ile208Arg) c.620T>G (p.Ile207Arg) c.730T>G (p.Tyr244Asp) c.674T>G (p.Ile225Arg) c.662T>G (p.Ile221Arg) c.656T>G (p.Ile219Arg) c.494T>G (p.Ile165Arg) c.626-1940T>G (n.626-1940T>G) | |
3 | g.39394458T= | CA1358939291 | SLC25A38 | c.626T= (p.Ile209=) c.623T= (p.Ile208=) c.620T= (p.Ile207=) c.730T= (p.Tyr244=) c.674T= (p.Ile225=) c.662T= (p.Ile221=) c.656T= (p.Ile219=) c.494T= (p.Ile165=) c.626-1940T= (n.626-1940T=) | |
3 | g.39394459A>C | CA433164410 | SLC25A38 | c.627A>C (p.Ile209=) c.624A>C (p.Ile208=) c.621A>C (p.Ile207=) c.731A>C (p.Tyr244Ser) c.675A>C (p.Ile225=) c.663A>C (p.Ile221=) c.657A>C (p.Ile219=) c.495A>C (p.Ile165=) c.626-1939A>C (n.626-1939A>C) | |
3 | g.39394459A>G | CA352204929 | SLC25A38 | c.627A>G (p.Ile209Met) c.624A>G (p.Ile208Met) c.621A>G (p.Ile207Met) c.731A>G (p.Tyr244Cys) c.675A>G (p.Ile225Met) c.663A>G (p.Ile221Met) c.657A>G (p.Ile219Met) c.495A>G (p.Ile165Met) c.626-1939A>G (n.626-1939A>G) | |
3 | g.39394459A>T | CA433164413 | SLC25A38 | c.627A>T (p.Ile209=) c.624A>T (p.Ile208=) c.621A>T (p.Ile207=) c.731A>T (p.Tyr244Phe) c.675A>T (p.Ile225=) c.663A>T (p.Ile221=) c.657A>T (p.Ile219=) c.495A>T (p.Ile165=) c.626-1939A>T (n.626-1939A>T) | |
3 | g.39394460T>A | CA352204937 | SLC25A38 | c.628T>A (p.Phe210Ile) c.625T>A (p.Phe209Ile) c.622T>A (p.Phe208Ile) c.732T>A (p.Tyr244Ter) c.676T>A (p.Phe226Ile) c.664T>A (p.Phe222Ile) c.658T>A (p.Phe220Ile) c.496T>A (p.Phe166Ile) c.626-1938T>A (n.626-1938T>A) | |
3 | g.39394460T>C | CA352204942 | SLC25A38 | c.628T>C (p.Phe210Leu) c.625T>C (p.Phe209Leu) c.622T>C (p.Phe208Leu) c.732T>C (p.Tyr244=) c.676T>C (p.Phe226Leu) c.664T>C (p.Phe222Leu) c.658T>C (p.Phe220Leu) c.496T>C (p.Phe166Leu) c.626-1938T>C (n.626-1938T>C) | |
3 | g.39394460T>G | CA352204935 | SLC25A38 | c.628T>G (p.Phe210Val) c.625T>G (p.Phe209Val) c.622T>G (p.Phe208Val) c.732T>G (p.Tyr244Ter) c.676T>G (p.Phe226Val) c.664T>G (p.Phe222Val) c.658T>G (p.Phe220Val) c.496T>G (p.Phe166Val) c.626-1938T>G (n.626-1938T>G) | |
3 | g.39394461T>A | CA352204947 | SLC25A38 | c.629T>A (p.Phe210Tyr) c.626T>A (p.Phe209Tyr) c.623T>A (p.Phe208Tyr) c.733T>A (p.Leu245Met) c.677T>A (p.Phe226Tyr) c.665T>A (p.Phe222Tyr) c.659T>A (p.Phe220Tyr) c.497T>A (p.Phe166Tyr) c.626-1937T>A (n.626-1937T>A) | |
3 | g.39394461T>C | CA352204944 | SLC25A38 | c.629T>C (p.Phe210Ser) c.626T>C (p.Phe209Ser) c.623T>C (p.Phe208Ser) c.733T>C (p.Leu245=) c.677T>C (p.Phe226Ser) c.665T>C (p.Phe222Ser) c.659T>C (p.Phe220Ser) c.497T>C (p.Phe166Ser) c.626-1937T>C (n.626-1937T>C) | |
3 | g.39394461T>G | CA352204945 | SLC25A38 | c.629T>G (p.Phe210Cys) c.626T>G (p.Phe209Cys) c.623T>G (p.Phe208Cys) c.733T>G (p.Leu245Val) c.677T>G (p.Phe226Cys) c.665T>G (p.Phe222Cys) c.659T>G (p.Phe220Cys) c.497T>G (p.Phe166Cys) c.626-1937T>G (n.626-1937T>G) | |
3 | g.39394462T>A | CA352204950 | SLC25A38 | c.630T>A (p.Phe210Leu) c.627T>A (p.Phe209Leu) c.624T>A (p.Phe208Leu) c.734T>A (p.Leu245Ter) c.678T>A (p.Phe226Leu) c.666T>A (p.Phe222Leu) c.660T>A (p.Phe220Leu) c.498T>A (p.Phe166Leu) c.626-1936T>A (n.626-1936T>A) | |
3 | g.39394462T>C | CA433164431 | SLC25A38 | c.630T>C (p.Phe210=) c.627T>C (p.Phe209=) c.624T>C (p.Phe208=) c.734T>C (p.Leu245Ser) c.678T>C (p.Phe226=) c.666T>C (p.Phe222=) c.660T>C (p.Phe220=) c.498T>C (p.Phe166=) c.626-1936T>C (n.626-1936T>C) | |
3 | g.39394462T>G | CA352204954 | SLC25A38 | c.630T>G (p.Phe210Leu) c.627T>G (p.Phe209Leu) c.624T>G (p.Phe208Leu) c.734T>G (p.Leu245Trp) c.678T>G (p.Phe226Leu) c.666T>G (p.Phe222Leu) c.660T>G (p.Phe220Leu) c.498T>G (p.Phe166Leu) c.626-1936T>G (n.626-1936T>G) | |
3 | g.39394463G>A | CA2327531 | SLC25A38 | c.631G>A (p.Ala211Thr) c.628G>A (p.Ala210Thr) c.625G>A (p.Ala209Thr) c.735G>A (p.Leu245=) c.679G>A (p.Ala227Thr) c.667G>A (p.Ala223Thr) c.661G>A (p.Ala221Thr) c.499G>A (p.Ala167Thr) c.626-1935G>A (n.626-1935G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394463G>C | CA352204961 | SLC25A38 | c.631G>C (p.Ala211Pro) c.628G>C (p.Ala210Pro) c.625G>C (p.Ala209Pro) c.735G>C (p.Leu245Phe) c.679G>C (p.Ala227Pro) c.667G>C (p.Ala223Pro) c.661G>C (p.Ala221Pro) c.499G>C (p.Ala167Pro) c.626-1935G>C (n.626-1935G>C) | |
3 | g.39394463G= | CA1358939292 | SLC25A38 | c.631G= (p.Ala211=) c.628G= (p.Ala210=) c.625G= (p.Ala209=) c.735G= (p.Leu245=) c.679G= (p.Ala227=) c.667G= (p.Ala223=) c.661G= (p.Ala221=) c.499G= (p.Ala167=) c.626-1935G= (n.626-1935G=) | |
3 | g.39394463G>T | CA352204967 | SLC25A38 | c.631G>T (p.Ala211Ser) c.628G>T (p.Ala210Ser) c.625G>T (p.Ala209Ser) c.735G>T (p.Leu245Phe) c.679G>T (p.Ala227Ser) c.667G>T (p.Ala223Ser) c.661G>T (p.Ala221Ser) c.499G>T (p.Ala167Ser) c.626-1935G>T (n.626-1935G>T) | |
3 | g.39394464C>A | CA352204968 | SLC25A38 | c.632C>A (p.Ala211Asp) c.629C>A (p.Ala210Asp) c.626C>A (p.Ala209Asp) c.736C>A (p.Leu246Met) c.680C>A (p.Ala227Asp) c.668C>A (p.Ala223Asp) c.662C>A (p.Ala221Asp) c.500C>A (p.Ala167Asp) c.626-1934C>A (n.626-1934C>A) | |
3 | g.39394464C>G | CA352204969 | SLC25A38 | c.632C>G (p.Ala211Gly) c.629C>G (p.Ala210Gly) c.626C>G (p.Ala209Gly) c.736C>G (p.Leu246Val) c.680C>G (p.Ala227Gly) c.668C>G (p.Ala223Gly) c.662C>G (p.Ala221Gly) c.500C>G (p.Ala167Gly) c.626-1934C>G (n.626-1934C>G) | |
3 | g.39394464C>T | CA352204970 | SLC25A38 | c.632C>T (p.Ala211Val) c.629C>T (p.Ala210Val) c.626C>T (p.Ala209Val) c.736C>T (p.Leu246=) c.680C>T (p.Ala227Val) c.668C>T (p.Ala223Val) c.662C>T (p.Ala221Val) c.500C>T (p.Ala167Val) c.626-1934C>T (n.626-1934C>T) | gnomAD v4 |
3 | g.39394465T>A | CA433164445 | SLC25A38 | c.633T>A (p.Ala211=) c.630T>A (p.Ala210=) c.627T>A (p.Ala209=) c.737T>A (p.Leu246Gln) c.681T>A (p.Ala227=) c.669T>A (p.Ala223=) c.663T>A (p.Ala221=) c.501T>A (p.Ala167=) c.626-1933T>A (n.626-1933T>A) | |
3 | g.39394465T>C | CA433164446 | SLC25A38 | c.633T>C (p.Ala211=) c.630T>C (p.Ala210=) c.627T>C (p.Ala209=) c.737T>C (p.Leu246Pro) c.681T>C (p.Ala227=) c.669T>C (p.Ala223=) c.663T>C (p.Ala221=) c.501T>C (p.Ala167=) c.626-1933T>C (n.626-1933T>C) | |
3 | g.39394465T>G | CA433164447 | SLC25A38 | c.633T>G (p.Ala211=) c.630T>G (p.Ala210=) c.627T>G (p.Ala209=) c.737T>G (p.Leu246Arg) c.681T>G (p.Ala227=) c.669T>G (p.Ala223=) c.663T>G (p.Ala221=) c.501T>G (p.Ala167=) c.626-1933T>G (n.626-1933T>G) | |
3 | g.39394466G>A | CA352204971 | SLC25A38 | c.634G>A (p.Gly212Ser) c.631G>A (p.Gly211Ser) c.628G>A (p.Gly210Ser) c.738G>A (p.Leu246=) c.682G>A (p.Gly228Ser) c.670G>A (p.Gly224Ser) c.664G>A (p.Gly222Ser) c.502G>A (p.Gly168Ser) c.626-1932G>A (n.626-1932G>A) | dbSNP |
3 | g.39394466G>C | CA352204973 | SLC25A38 | c.634G>C (p.Gly212Arg) c.631G>C (p.Gly211Arg) c.628G>C (p.Gly210Arg) c.738G>C (p.Leu246=) c.682G>C (p.Gly228Arg) c.670G>C (p.Gly224Arg) c.664G>C (p.Gly222Arg) c.502G>C (p.Gly168Arg) c.626-1932G>C (n.626-1932G>C) | |
3 | g.39394466G= | CA1358939293 | SLC25A38 | c.634G= (p.Gly212=) c.631G= (p.Gly211=) c.628G= (p.Gly210=) c.738G= (p.Leu246=) c.682G= (p.Gly228=) c.670G= (p.Gly224=) c.664G= (p.Gly222=) c.502G= (p.Gly168=) c.626-1932G= (n.626-1932G=) | |
3 | g.39394466G>T | CA352204976 | SLC25A38 | c.634G>T (p.Gly212Cys) c.631G>T (p.Gly211Cys) c.628G>T (p.Gly210Cys) c.738G>T (p.Leu246=) c.682G>T (p.Gly228Cys) c.670G>T (p.Gly224Cys) c.664G>T (p.Gly222Cys) c.502G>T (p.Gly168Cys) c.626-1932G>T (n.626-1932G>T) | |
3 | g.39394467G>A | CA352204992 | SLC25A38 | c.635G>A (p.Gly212Asp) c.632G>A (p.Gly211Asp) c.629G>A (p.Gly210Asp) c.739G>A (p.Val247Ile) c.683G>A (p.Gly228Asp) c.671G>A (p.Gly224Asp) c.665G>A (p.Gly222Asp) c.503G>A (p.Gly168Asp) c.626-1931G>A (n.626-1931G>A) | |
3 | g.39394467G>C | CA352204981 | SLC25A38 | c.635G>C (p.Gly212Ala) c.632G>C (p.Gly211Ala) c.629G>C (p.Gly210Ala) c.739G>C (p.Val247Leu) c.683G>C (p.Gly228Ala) c.671G>C (p.Gly224Ala) c.665G>C (p.Gly222Ala) c.503G>C (p.Gly168Ala) c.626-1931G>C (n.626-1931G>C) | |
3 | g.39394467G= | CA1358939294 | SLC25A38 | c.635G= (p.Gly212=) c.632G= (p.Gly211=) c.629G= (p.Gly210=) c.739G= (p.Val247=) c.683G= (p.Gly228=) c.671G= (p.Gly224=) c.665G= (p.Gly222=) c.503G= (p.Gly168=) c.626-1931G= (n.626-1931G=) | |
3 | g.39394467G>T | CA2327532 | SLC25A38 | c.635G>T (p.Gly212Val) c.632G>T (p.Gly211Val) c.629G>T (p.Gly210Val) c.739G>T (p.Val247Leu) c.683G>T (p.Gly228Val) c.671G>T (p.Gly224Val) c.665G>T (p.Gly222Val) c.503G>T (p.Gly168Val) c.626-1931G>T (n.626-1931G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394468T>A | CA433164463 | SLC25A38 | c.636T>A (p.Gly212=) c.633T>A (p.Gly211=) c.630T>A (p.Gly210=) c.740T>A (p.Val247Glu) c.684T>A (p.Gly228=) c.672T>A (p.Gly224=) c.666T>A (p.Gly222=) c.504T>A (p.Gly168=) c.626-1930T>A (n.626-1930T>A) | |
3 | g.39394468T>C | CA433164466 | SLC25A38 | c.636T>C (p.Gly212=) c.633T>C (p.Gly211=) c.630T>C (p.Gly210=) c.740T>C (p.Val247Ala) c.684T>C (p.Gly228=) c.672T>C (p.Gly224=) c.666T>C (p.Gly222=) c.504T>C (p.Gly168=) c.626-1930T>C (n.626-1930T>C) | dbSNP |
3 | g.39394468T>G | CA433164467 | SLC25A38 | c.636T>G (p.Gly212=) c.633T>G (p.Gly211=) c.630T>G (p.Gly210=) c.740T>G (p.Val247Gly) c.684T>G (p.Gly228=) c.672T>G (p.Gly224=) c.666T>G (p.Gly222=) c.504T>G (p.Gly168=) c.626-1930T>G (n.626-1930T>G) | |
3 | g.39394468T= | CA1358939295 | SLC25A38 | c.636T= (p.Gly212=) c.633T= (p.Gly211=) c.630T= (p.Gly210=) c.740T= (p.Val247=) c.684T= (p.Gly228=) c.672T= (p.Gly224=) c.666T= (p.Gly222=) c.504T= (p.Gly168=) c.626-1930T= (n.626-1930T=) | |
3 | g.39394469A>C | CA352204995 | SLC25A38 | c.637A>C (p.Ile213Leu) c.634A>C (p.Ile212Leu) c.631A>C (p.Ile211Leu) c.741A>C (p.Val247=) c.685A>C (p.Ile229Leu) c.673A>C (p.Ile225Leu) c.667A>C (p.Ile223Leu) c.505A>C (p.Ile169Leu) c.626-1929A>C (n.626-1929A>C) | |
3 | g.39394469A>G | CA352205002 | SLC25A38 | c.637A>G (p.Ile213Val) c.634A>G (p.Ile212Val) c.631A>G (p.Ile211Val) c.741A>G (p.Val247=) c.685A>G (p.Ile229Val) c.673A>G (p.Ile225Val) c.667A>G (p.Ile223Val) c.505A>G (p.Ile169Val) c.626-1929A>G (n.626-1929A>G) | gnomAD v4 |
3 | g.39394469A>T | CA352205006 | SLC25A38 | c.637A>T (p.Ile213Phe) c.634A>T (p.Ile212Phe) c.631A>T (p.Ile211Phe) c.741A>T (p.Val247=) c.685A>T (p.Ile229Phe) c.673A>T (p.Ile225Phe) c.667A>T (p.Ile223Phe) c.505A>T (p.Ile169Phe) c.626-1929A>T (n.626-1929A>T) | |
3 | g.39394470T>A | CA352205011 | SLC25A38 | c.638T>A (p.Ile213Asn) c.635T>A (p.Ile212Asn) c.632T>A (p.Ile211Asn) c.742T>A (p.Phe248Ile) c.686T>A (p.Ile229Asn) c.674T>A (p.Ile225Asn) c.668T>A (p.Ile223Asn) c.506T>A (p.Ile169Asn) c.626-1928T>A (n.626-1928T>A) | |
3 | g.39394470T>C | CA352205013 | SLC25A38 | c.638T>C (p.Ile213Thr) c.635T>C (p.Ile212Thr) c.632T>C (p.Ile211Thr) c.742T>C (p.Phe248Leu) c.686T>C (p.Ile229Thr) c.674T>C (p.Ile225Thr) c.668T>C (p.Ile223Thr) c.506T>C (p.Ile169Thr) c.626-1928T>C (n.626-1928T>C) | |
3 | g.39394470T>G | CA352205015 | SLC25A38 | c.638T>G (p.Ile213Ser) c.635T>G (p.Ile212Ser) c.632T>G (p.Ile211Ser) c.742T>G (p.Phe248Val) c.686T>G (p.Ile229Ser) c.674T>G (p.Ile225Ser) c.668T>G (p.Ile223Ser) c.506T>G (p.Ile169Ser) c.626-1928T>G (n.626-1928T>G) | |
3 | g.39394471T>A | CA433164484 | SLC25A38 | c.639T>A (p.Ile213=) c.636T>A (p.Ile212=) c.633T>A (p.Ile211=) c.743T>A (p.Phe248Tyr) c.687T>A (p.Ile229=) c.675T>A (p.Ile225=) c.669T>A (p.Ile223=) c.507T>A (p.Ile169=) c.626-1927T>A (n.626-1927T>A) | |
3 | g.39394471T>C | CA433164481 | SLC25A38 | c.639T>C (p.Ile213=) c.636T>C (p.Ile212=) c.633T>C (p.Ile211=) c.743T>C (p.Phe248Ser) c.687T>C (p.Ile229=) c.675T>C (p.Ile225=) c.669T>C (p.Ile223=) c.507T>C (p.Ile169=) c.626-1927T>C (n.626-1927T>C) | |
3 | g.39394471T>G | CA352205017 | SLC25A38 | c.639T>G (p.Ile213Met) c.636T>G (p.Ile212Met) c.633T>G (p.Ile211Met) c.743T>G (p.Phe248Cys) c.687T>G (p.Ile229Met) c.675T>G (p.Ile225Met) c.669T>G (p.Ile223Met) c.507T>G (p.Ile169Met) c.626-1927T>G (n.626-1927T>G) | |
3 | g.39394472C>A | CA352205021 | SLC25A38 | c.640C>A (p.Leu214Met) c.637C>A (p.Leu213Met) c.634C>A (p.Leu212Met) c.744C>A (p.Phe248Leu) c.688C>A (p.Leu230Met) c.676C>A (p.Leu226Met) c.670C>A (p.Leu224Met) c.508C>A (p.Leu170Met) c.626-1926C>A (n.626-1926C>A) | |
3 | g.39394472C= | CA1358939296 | SLC25A38 | c.640C= (p.Leu214=) c.637C= (p.Leu213=) c.634C= (p.Leu212=) c.744C= (p.Phe248=) c.688C= (p.Leu230=) c.676C= (p.Leu226=) c.670C= (p.Leu224=) c.508C= (p.Leu170=) c.626-1926C= (n.626-1926C=) | |
3 | g.39394472C>G | CA352205025 | SLC25A38 | c.640C>G (p.Leu214Val) c.637C>G (p.Leu213Val) c.634C>G (p.Leu212Val) c.744C>G (p.Phe248Leu) c.688C>G (p.Leu230Val) c.676C>G (p.Leu226Val) c.670C>G (p.Leu224Val) c.508C>G (p.Leu170Val) c.626-1926C>G (n.626-1926C>G) | |
3 | g.39394472C>T | CA2327533 | SLC25A38 | c.640C>T (p.Leu214=) c.637C>T (p.Leu213=) c.634C>T (p.Leu212=) c.744C>T (p.Phe248=) c.688C>T (p.Leu230=) c.676C>T (p.Leu226=) c.670C>T (p.Leu224=) c.508C>T (p.Leu170=) c.626-1926C>T (n.626-1926C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394473T>A | CA352205041 | SLC25A38 | c.641T>A (p.Leu214Gln) c.638T>A (p.Leu213Gln) c.635T>A (p.Leu212Gln) c.745T>A (p.Trp249Arg) c.689T>A (p.Leu230Gln) c.677T>A (p.Leu226Gln) c.671T>A (p.Leu224Gln) c.509T>A (p.Leu170Gln) c.626-1925T>A (n.626-1925T>A) | |
3 | g.39394473T>C | CA352205044 | SLC25A38 | c.641T>C (p.Leu214Pro) c.638T>C (p.Leu213Pro) c.635T>C (p.Leu212Pro) c.745T>C (p.Trp249Arg) c.689T>C (p.Leu230Pro) c.677T>C (p.Leu226Pro) c.671T>C (p.Leu224Pro) c.509T>C (p.Leu170Pro) c.626-1925T>C (n.626-1925T>C) | ClinVar dbSNP |
3 | g.39394473T>G | CA352205047 | SLC25A38 | c.641T>G (p.Leu214Arg) c.638T>G (p.Leu213Arg) c.635T>G (p.Leu212Arg) c.745T>G (p.Trp249Gly) c.689T>G (p.Leu230Arg) c.677T>G (p.Leu226Arg) c.671T>G (p.Leu224Arg) c.509T>G (p.Leu170Arg) c.626-1925T>G (n.626-1925T>G) | |
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) | |
3 | g.39394489T>C | CA433164607 | SLC25A38 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) c.651T>C (p.Thr217=) c.*2T>C (n.*2T>C) c.705T>C (p.Thr235=) c.693T>C (p.Thr231=) c.687T>C (p.Thr229=) c.525T>C (p.Thr175=) c.626-1909T>C (n.626-1909T>C) | |
3 | g.39394489T>G | CA433164610 | SLC25A38 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) c.651T>G (p.Thr217=) c.*2T>G (n.*2T>G) c.705T>G (p.Thr235=) c.693T>G (p.Thr231=) c.687T>G (p.Thr229=) c.525T>G (p.Thr175=) c.626-1909T>G (n.626-1909T>G) | |
3 | g.39394490C>A | CA352205152 | SLC25A38 | c.658C>A (p.Gln220Lys) c.655C>A (p.Gln219Lys) c.652C>A (p.Gln218Lys) c.*3C>A (n.*3C>A) c.706C>A (p.Gln236Lys) c.694C>A (p.Gln232Lys) c.688C>A (p.Gln230Lys) c.526C>A (p.Gln176Lys) c.626-1908C>A (n.626-1908C>A) | |
3 | g.39394490C= | CA1358939300 | SLC25A38 | c.658C= (p.Gln220=) c.655C= (p.Gln219=) c.652C= (p.Gln218=) c.*3C= (n.*3C=) c.706C= (p.Gln236=) c.694C= (p.Gln232=) c.688C= (p.Gln230=) c.526C= (p.Gln176=) c.626-1908C= (n.626-1908C=) | |
3 | g.39394490C>G | CA352205154 | SLC25A38 | c.658C>G (p.Gln220Glu) c.655C>G (p.Gln219Glu) c.652C>G (p.Gln218Glu) c.*3C>G (n.*3C>G) c.706C>G (p.Gln236Glu) c.694C>G (p.Gln232Glu) c.688C>G (p.Gln230Glu) c.526C>G (p.Gln176Glu) c.626-1908C>G (n.626-1908C>G) | |
3 | g.39394490C>T | CA2327534 | SLC25A38 | c.658C>T (p.Gln220Ter) c.655C>T (p.Gln219Ter) c.652C>T (p.Gln218Ter) c.*3C>T (n.*3C>T) c.706C>T (p.Gln236Ter) c.694C>T (p.Gln232Ter) c.688C>T (p.Gln230Ter) c.526C>T (p.Gln176Ter) c.626-1908C>T (n.626-1908C>T) | dbSNP ExAC gnomAD v2 |
3 | g.39394491A>C | CA352205157 | SLC25A38 | c.659A>C (p.Gln220Pro) c.656A>C (p.Gln219Pro) c.653A>C (p.Gln218Pro) c.*4A>C (n.*4A>C) c.707A>C (p.Gln236Pro) c.695A>C (p.Gln232Pro) c.689A>C (p.Gln230Pro) c.527A>C (p.Gln176Pro) c.626-1907A>C (n.626-1907A>C) | |
3 | g.39394491A>G | CA352205155 | SLC25A38 | c.659A>G (p.Gln220Arg) c.656A>G (p.Gln219Arg) c.653A>G (p.Gln218Arg) c.*4A>G (n.*4A>G) c.707A>G (p.Gln236Arg) c.695A>G (p.Gln232Arg) c.689A>G (p.Gln230Arg) c.527A>G (p.Gln176Arg) c.626-1907A>G (n.626-1907A>G) | |
3 | g.39394491A>T | CA352205156 | SLC25A38 | c.659A>T (p.Gln220Leu) c.656A>T (p.Gln219Leu) c.653A>T (p.Gln218Leu) c.*4A>T (n.*4A>T) c.707A>T (p.Gln236Leu) c.695A>T (p.Gln232Leu) c.689A>T (p.Gln230Leu) c.527A>T (p.Gln176Leu) c.626-1907A>T (n.626-1907A>T) | |
3 | g.39394492A>C | CA352205161 | SLC25A38 | c.660A>C (p.Gln220His) c.657A>C (p.Gln219His) c.654A>C (p.Gln218His) c.*5A>C (n.*5A>C) c.708A>C (p.Gln236His) c.696A>C (p.Gln232His) c.690A>C (p.Gln230His) c.528A>C (p.Gln176His) c.626-1906A>C (n.626-1906A>C) | |
3 | g.39394492A>G | CA433164633 | SLC25A38 | c.660A>G (p.Gln220=) c.657A>G (p.Gln219=) c.654A>G (p.Gln218=) c.*5A>G (n.*5A>G) c.708A>G (p.Gln236=) c.696A>G (p.Gln232=) c.690A>G (p.Gln230=) c.528A>G (p.Gln176=) c.626-1906A>G (n.626-1906A>G) | |
3 | g.39394492A>T | CA352205163 | SLC25A38 | c.660A>T (p.Gln220His) c.657A>T (p.Gln219His) c.654A>T (p.Gln218His) c.*5A>T (n.*5A>T) c.708A>T (p.Gln236His) c.696A>T (p.Gln232His) c.690A>T (p.Gln230His) c.528A>T (p.Gln176His) c.626-1906A>T (n.626-1906A>T) | |
3 | g.39394493C>A | CA352205167 | SLC25A38 | c.661C>A (p.Pro221Thr) c.658C>A (p.Pro220Thr) c.655C>A (p.Pro219Thr) c.*6C>A (n.*6C>A) c.709C>A (p.Pro237Thr) c.697C>A (p.Pro233Thr) c.691C>A (p.Pro231Thr) c.529C>A (p.Pro177Thr) c.626-1905C>A (n.626-1905C>A) | dbSNP |
3 | g.39394493C= | CA1358939301 | SLC25A38 | c.661C= (p.Pro221=) c.658C= (p.Pro220=) c.655C= (p.Pro219=) c.*6C= (n.*6C=) c.709C= (p.Pro237=) c.697C= (p.Pro233=) c.691C= (p.Pro231=) c.529C= (p.Pro177=) c.626-1905C= (n.626-1905C=) | |
3 | g.39394493C>G | CA352205176 | SLC25A38 | c.661C>G (p.Pro221Ala) c.658C>G (p.Pro220Ala) c.655C>G (p.Pro219Ala) c.*6C>G (n.*6C>G) c.709C>G (p.Pro237Ala) c.697C>G (p.Pro233Ala) c.691C>G (p.Pro231Ala) c.529C>G (p.Pro177Ala) c.626-1905C>G (n.626-1905C>G) | |
3 | g.39394493C>T | CA352205185 | SLC25A38 | c.661C>T (p.Pro221Ser) c.658C>T (p.Pro220Ser) c.655C>T (p.Pro219Ser) c.*6C>T (n.*6C>T) c.709C>T (p.Pro237Ser) c.697C>T (p.Pro233Ser) c.691C>T (p.Pro231Ser) c.529C>T (p.Pro177Ser) c.626-1905C>T (n.626-1905C>T) | dbSNP |
3 | g.39394494C>A | CA352205209 | SLC25A38 | c.662C>A (p.Pro221His) c.659C>A (p.Pro220His) c.656C>A (p.Pro219His) c.*7C>A (n.*7C>A) c.710C>A (p.Pro237His) c.698C>A (p.Pro233His) c.692C>A (p.Pro231His) c.530C>A (p.Pro177His) c.626-1904C>A (n.626-1904C>A) | |
3 | g.39394494C>G | CA352205211 | SLC25A38 | c.662C>G (p.Pro221Arg) c.659C>G (p.Pro220Arg) c.656C>G (p.Pro219Arg) c.*7C>G (n.*7C>G) c.710C>G (p.Pro237Arg) c.698C>G (p.Pro233Arg) c.692C>G (p.Pro231Arg) c.530C>G (p.Pro177Arg) c.626-1904C>G (n.626-1904C>G) | |
3 | g.39394494C>T | CA352205215 | SLC25A38 | c.662C>T (p.Pro221Leu) c.659C>T (p.Pro220Leu) c.656C>T (p.Pro219Leu) c.*7C>T (n.*7C>T) c.710C>T (p.Pro237Leu) c.698C>T (p.Pro233Leu) c.692C>T (p.Pro231Leu) c.530C>T (p.Pro177Leu) c.626-1904C>T (n.626-1904C>T) | |
3 | g.39394495T>A | CA433164659 | SLC25A38 | c.663T>A (p.Pro221=) c.660T>A (p.Pro220=) c.657T>A (p.Pro219=) c.*8T>A (n.*8T>A) c.711T>A (p.Pro237=) c.699T>A (p.Pro233=) c.693T>A (p.Pro231=) c.531T>A (p.Pro177=) c.626-1903T>A (n.626-1903T>A) | gnomAD v4 |
3 | g.39394495T>C | CA433164652 | SLC25A38 | c.663T>C (p.Pro221=) c.660T>C (p.Pro220=) c.657T>C (p.Pro219=) c.*8T>C (n.*8T>C) c.711T>C (p.Pro237=) c.699T>C (p.Pro233=) c.693T>C (p.Pro231=) c.531T>C (p.Pro177=) c.626-1903T>C (n.626-1903T>C) | |
3 | g.39394495T>G | CA433164657 | SLC25A38 | c.663T>G (p.Pro221=) c.660T>G (p.Pro220=) c.657T>G (p.Pro219=) c.*8T>G (n.*8T>G) c.711T>G (p.Pro237=) c.699T>G (p.Pro233=) c.693T>G (p.Pro231=) c.531T>G (p.Pro177=) c.626-1903T>G (n.626-1903T>G) | |
3 | g.39394496G>A | CA352205221 | SLC25A38 | c.664G>A (p.Ala222Thr) c.661G>A (p.Ala221Thr) c.658G>A (p.Ala220Thr) c.*9G>A (n.*9G>A) c.712G>A (p.Ala238Thr) c.700G>A (p.Ala234Thr) c.694G>A (p.Ala232Thr) c.532G>A (p.Ala178Thr) c.626-1902G>A (n.626-1902G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394496G>C | CA352205222 | SLC25A38 | c.664G>C (p.Ala222Pro) c.661G>C (p.Ala221Pro) c.658G>C (p.Ala220Pro) c.*9G>C (n.*9G>C) c.712G>C (p.Ala238Pro) c.700G>C (p.Ala234Pro) c.694G>C (p.Ala232Pro) c.532G>C (p.Ala178Pro) c.626-1902G>C (n.626-1902G>C) | |
3 | g.39394496G= | CA1358939302 | SLC25A38 | c.664G= (p.Ala222=) c.661G= (p.Ala221=) c.658G= (p.Ala220=) c.*9G= (n.*9G=) c.712G= (p.Ala238=) c.700G= (p.Ala234=) c.694G= (p.Ala232=) c.532G= (p.Ala178=) c.626-1902G= (n.626-1902G=) | |
3 | g.39394496G>T | CA352205223 | SLC25A38 | c.664G>T (p.Ala222Ser) c.661G>T (p.Ala221Ser) c.658G>T (p.Ala220Ser) c.*9G>T (n.*9G>T) c.712G>T (p.Ala238Ser) c.700G>T (p.Ala234Ser) c.694G>T (p.Ala232Ser) c.532G>T (p.Ala178Ser) c.626-1902G>T (n.626-1902G>T) | gnomAD v4 |
3 | g.39394497C>A | CA352205228 | SLC25A38 | c.665C>A (p.Ala222Glu) c.662C>A (p.Ala221Glu) c.659C>A (p.Ala220Glu) c.*10C>A (n.*10C>A) c.713C>A (p.Ala238Glu) c.701C>A (p.Ala234Glu) c.695C>A (p.Ala232Glu) c.533C>A (p.Ala178Glu) c.626-1901C>A (n.626-1901C>A) | |
3 | g.39394497C= | CA1358939303 | SLC25A38 | c.665C= (p.Ala222=) c.662C= (p.Ala221=) c.659C= (p.Ala220=) c.*10C= (n.*10C=) c.713C= (p.Ala238=) c.701C= (p.Ala234=) c.695C= (p.Ala232=) c.533C= (p.Ala178=) c.626-1901C= (n.626-1901C=) | |
3 | g.39394497C>G | CA352205224 | SLC25A38 | c.665C>G (p.Ala222Gly) c.662C>G (p.Ala221Gly) c.659C>G (p.Ala220Gly) c.*10C>G (n.*10C>G) c.713C>G (p.Ala238Gly) c.701C>G (p.Ala234Gly) c.695C>G (p.Ala232Gly) c.533C>G (p.Ala178Gly) c.626-1901C>G (n.626-1901C>G) | |
3 | g.39394497C>T | CA2327535 | SLC25A38 | c.665C>T (p.Ala222Val) c.662C>T (p.Ala221Val) c.659C>T (p.Ala220Val) c.*10C>T (n.*10C>T) c.713C>T (p.Ala238Val) c.701C>T (p.Ala234Val) c.695C>T (p.Ala232Val) c.533C>T (p.Ala178Val) c.626-1901C>T (n.626-1901C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.39394498G>A | CA2327536 | SLC25A38 | c.666G>A (p.Ala222=) c.663G>A (p.Ala221=) c.660G>A (p.Ala220=) c.*11G>A (n.*11G>A) c.714G>A (p.Ala238=) c.702G>A (p.Ala234=) c.696G>A (p.Ala232=) c.534G>A (p.Ala178=) c.626-1900G>A (n.626-1900G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394498G>C | CA433164684 | SLC25A38 | c.666G>C (p.Ala222=) c.663G>C (p.Ala221=) c.660G>C (p.Ala220=) c.*11G>C (n.*11G>C) c.714G>C (p.Ala238=) c.702G>C (p.Ala234=) c.696G>C (p.Ala232=) c.534G>C (p.Ala178=) c.626-1900G>C (n.626-1900G>C) | |
3 | g.39394498G= | CA1358939304 | SLC25A38 | c.666G= (p.Ala222=) c.663G= (p.Ala221=) c.660G= (p.Ala220=) c.*11G= (n.*11G=) c.714G= (p.Ala238=) c.702G= (p.Ala234=) c.696G= (p.Ala232=) c.534G= (p.Ala178=) c.626-1900G= (n.626-1900G=) | |
3 | g.39394498G>T | CA433164682 | SLC25A38 | c.666G>T (p.Ala222=) c.663G>T (p.Ala221=) c.660G>T (p.Ala220=) c.*11G>T (n.*11G>T) c.714G>T (p.Ala238=) c.702G>T (p.Ala234=) c.696G>T (p.Ala232=) c.534G>T (p.Ala178=) c.626-1900G>T (n.626-1900G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394499G>A | CA352205236 | SLC25A38 | c.667G>A (p.Asp223Asn) c.664G>A (p.Asp222Asn) c.661G>A (p.Asp221Asn) c.*12G>A (n.*12G>A) c.715G>A (p.Asp239Asn) c.703G>A (p.Asp235Asn) c.697G>A (p.Asp233Asn) c.535G>A (p.Asp179Asn) c.626-1899G>A (n.626-1899G>A) | |
3 | g.39394499G>C | CA352205247 | SLC25A38 | c.667G>C (p.Asp223His) c.664G>C (p.Asp222His) c.661G>C (p.Asp221His) c.*12G>C (n.*12G>C) c.715G>C (p.Asp239His) c.703G>C (p.Asp235His) c.697G>C (p.Asp233His) c.535G>C (p.Asp179His) c.626-1899G>C (n.626-1899G>C) | |
3 | g.39394499G>T | CA352205250 | SLC25A38 | c.667G>T (p.Asp223Tyr) c.664G>T (p.Asp222Tyr) c.661G>T (p.Asp221Tyr) c.*12G>T (n.*12G>T) c.715G>T (p.Asp239Tyr) c.703G>T (p.Asp235Tyr) c.697G>T (p.Asp233Tyr) c.535G>T (p.Asp179Tyr) c.626-1899G>T (n.626-1899G>T) | |
3 | g.39394500A>C | CA352205251 | SLC25A38 | c.668A>C (p.Asp223Ala) c.665A>C (p.Asp222Ala) c.662A>C (p.Asp221Ala) c.*13A>C (n.*13A>C) c.716A>C (p.Asp239Ala) c.704A>C (p.Asp235Ala) c.698A>C (p.Asp233Ala) c.536A>C (p.Asp179Ala) c.626-1898A>C (n.626-1898A>C) | |
3 | g.39394500A>G | CA352205252 | SLC25A38 | c.668A>G (p.Asp223Gly) c.665A>G (p.Asp222Gly) c.662A>G (p.Asp221Gly) c.*13A>G (n.*13A>G) c.716A>G (p.Asp239Gly) c.704A>G (p.Asp235Gly) c.698A>G (p.Asp233Gly) c.536A>G (p.Asp179Gly) c.626-1898A>G (n.626-1898A>G) | |
3 | g.39394500A>T | CA352205253 | SLC25A38 | c.668A>T (p.Asp223Val) c.665A>T (p.Asp222Val) c.662A>T (p.Asp221Val) c.*13A>T (n.*13A>T) c.716A>T (p.Asp239Val) c.704A>T (p.Asp235Val) c.698A>T (p.Asp233Val) c.536A>T (p.Asp179Val) c.626-1898A>T (n.626-1898A>T) | |
3 | g.39394501T>A | CA352205254 | SLC25A38 | c.669T>A (p.Asp223Glu) c.666T>A (p.Asp222Glu) c.663T>A (p.Asp221Glu) c.*14T>A (n.*14T>A) c.717T>A (p.Asp239Glu) c.705T>A (p.Asp235Glu) c.699T>A (p.Asp233Glu) c.537T>A (p.Asp179Glu) c.626-1897T>A (n.626-1897T>A) | |
3 | g.39394501T>C | CA433164708 | SLC25A38 | c.669T>C (p.Asp223=) c.666T>C (p.Asp222=) c.663T>C (p.Asp221=) c.*14T>C (n.*14T>C) c.717T>C (p.Asp239=) c.705T>C (p.Asp235=) c.699T>C (p.Asp233=) c.537T>C (p.Asp179=) c.626-1897T>C (n.626-1897T>C) | |
3 | g.39394501T>G | CA352205258 | SLC25A38 | c.669T>G (p.Asp223Glu) c.666T>G (p.Asp222Glu) c.663T>G (p.Asp221Glu) c.*14T>G (n.*14T>G) c.717T>G (p.Asp239Glu) c.705T>G (p.Asp235Glu) c.699T>G (p.Asp233Glu) c.537T>G (p.Asp179Glu) c.626-1897T>G (n.626-1897T>G) | |
3 | g.39394502G>A | CA352205260 | SLC25A38 | c.670G>A (p.Val224Ile) c.667G>A (p.Val223Ile) c.664G>A (p.Val222Ile) c.*15G>A (n.*15G>A) c.718G>A (p.Val240Ile) c.706G>A (p.Val236Ile) c.700G>A (p.Val234Ile) c.538G>A (p.Val180Ile) c.626-1896G>A (n.626-1896G>A) | dbSNP gnomAD v4 |
3 | g.39394502G>C | CA352205263 | SLC25A38 | c.670G>C (p.Val224Leu) c.667G>C (p.Val223Leu) c.664G>C (p.Val222Leu) c.*15G>C (n.*15G>C) c.718G>C (p.Val240Leu) c.706G>C (p.Val236Leu) c.700G>C (p.Val234Leu) c.538G>C (p.Val180Leu) c.626-1896G>C (n.626-1896G>C) | |
3 | g.39394502G= | CA1358939305 | SLC25A38 | c.670G= (p.Val224=) c.667G= (p.Val223=) c.664G= (p.Val222=) c.*15G= (n.*15G=) c.718G= (p.Val240=) c.706G= (p.Val236=) c.700G= (p.Val234=) c.538G= (p.Val180=) c.626-1896G= (n.626-1896G=) | |
3 | g.39394502G>T | CA352205264 | SLC25A38 | c.670G>T (p.Val224Phe) c.667G>T (p.Val223Phe) c.664G>T (p.Val222Phe) c.*15G>T (n.*15G>T) c.718G>T (p.Val240Phe) c.706G>T (p.Val236Phe) c.700G>T (p.Val234Phe) c.538G>T (p.Val180Phe) c.626-1896G>T (n.626-1896G>T) | |
3 | g.39394503T>A | CA352205273 | SLC25A38 | c.671T>A (p.Val224Asp) c.668T>A (p.Val223Asp) c.665T>A (p.Val222Asp) c.*16T>A (n.*16T>A) c.719T>A (p.Val240Asp) c.707T>A (p.Val236Asp) c.701T>A (p.Val234Asp) c.539T>A (p.Val180Asp) c.626-1895T>A (n.626-1895T>A) | |
3 | g.39394503T>C | CA352205277 | SLC25A38 | c.671T>C (p.Val224Ala) c.668T>C (p.Val223Ala) c.665T>C (p.Val222Ala) c.*16T>C (n.*16T>C) c.719T>C (p.Val240Ala) c.707T>C (p.Val236Ala) c.701T>C (p.Val234Ala) c.539T>C (p.Val180Ala) c.626-1895T>C (n.626-1895T>C) | |
3 | g.39394503T>G | CA352205268 | SLC25A38 | c.671T>G (p.Val224Gly) c.668T>G (p.Val223Gly) c.665T>G (p.Val222Gly) c.*16T>G (n.*16T>G) c.719T>G (p.Val240Gly) c.707T>G (p.Val236Gly) c.701T>G (p.Val234Gly) c.539T>G (p.Val180Gly) c.626-1895T>G (n.626-1895T>G) | |
3 | g.39394504T>A | CA433164730 | SLC25A38 | c.672T>A (p.Val224=) c.669T>A (p.Val223=) c.666T>A (p.Val222=) c.*17T>A (n.*17T>A) c.720T>A (p.Val240=) c.708T>A (p.Val236=) c.702T>A (p.Val234=) c.540T>A (p.Val180=) c.626-1894T>A (n.626-1894T>A) | |
3 | g.39394504T>C | CA433164733 | SLC25A38 | c.672T>C (p.Val224=) c.669T>C (p.Val223=) c.666T>C (p.Val222=) c.*17T>C (n.*17T>C) c.720T>C (p.Val240=) c.708T>C (p.Val236=) c.702T>C (p.Val234=) c.540T>C (p.Val180=) c.626-1894T>C (n.626-1894T>C) | |
3 | g.39394504T>G | CA433164736 | SLC25A38 | c.672T>G (p.Val224=) c.669T>G (p.Val223=) c.666T>G (p.Val222=) c.*17T>G (n.*17T>G) c.720T>G (p.Val240=) c.708T>G (p.Val236=) c.702T>G (p.Val234=) c.540T>G (p.Val180=) c.626-1894T>G (n.626-1894T>G) | |
3 | g.39394505A>C | CA352205279 | SLC25A38 | c.673A>C (p.Ile225Leu) c.670A>C (p.Ile224Leu) c.667A>C (p.Ile223Leu) c.*18A>C (n.*18A>C) c.721A>C (p.Ile241Leu) c.709A>C (p.Ile237Leu) c.703A>C (p.Ile235Leu) c.541A>C (p.Ile181Leu) c.626-1893A>C (n.626-1893A>C) | |
3 | g.39394505A>G | CA352205280 | SLC25A38 | c.673A>G (p.Ile225Val) c.670A>G (p.Ile224Val) c.667A>G (p.Ile223Val) c.*18A>G (n.*18A>G) c.721A>G (p.Ile241Val) c.709A>G (p.Ile237Val) c.703A>G (p.Ile235Val) c.541A>G (p.Ile181Val) c.626-1893A>G (n.626-1893A>G) | |
3 | g.39394505A>T | CA352205281 | SLC25A38 | c.673A>T (p.Ile225Phe) c.670A>T (p.Ile224Phe) c.667A>T (p.Ile223Phe) c.*18A>T (n.*18A>T) c.721A>T (p.Ile241Phe) c.709A>T (p.Ile237Phe) c.703A>T (p.Ile235Phe) c.541A>T (p.Ile181Phe) c.626-1893A>T (n.626-1893A>T) | |
3 | g.39394506T>A | CA352205284 | SLC25A38 | c.674T>A (p.Ile225Asn) c.671T>A (p.Ile224Asn) c.668T>A (p.Ile223Asn) c.*19T>A (n.*19T>A) c.722T>A (p.Ile241Asn) c.710T>A (p.Ile237Asn) c.704T>A (p.Ile235Asn) c.542T>A (p.Ile181Asn) c.626-1892T>A (n.626-1892T>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394506T>C | CA2327537 | SLC25A38 | c.674T>C (p.Ile225Thr) c.671T>C (p.Ile224Thr) c.668T>C (p.Ile223Thr) c.*19T>C (n.*19T>C) c.722T>C (p.Ile241Thr) c.710T>C (p.Ile237Thr) c.704T>C (p.Ile235Thr) c.542T>C (p.Ile181Thr) c.626-1892T>C (n.626-1892T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394506T>G | CA352205288 | SLC25A38 | c.674T>G (p.Ile225Ser) c.671T>G (p.Ile224Ser) c.668T>G (p.Ile223Ser) c.*19T>G (n.*19T>G) c.722T>G (p.Ile241Ser) c.710T>G (p.Ile237Ser) c.704T>G (p.Ile235Ser) c.542T>G (p.Ile181Ser) c.626-1892T>G (n.626-1892T>G) | |
3 | g.39394506T= | CA1358939306 | SLC25A38 | c.674T= (p.Ile225=) c.671T= (p.Ile224=) c.668T= (p.Ile223=) c.*19T= (n.*19T=) c.722T= (p.Ile241=) c.710T= (p.Ile237=) c.704T= (p.Ile235=) c.542T= (p.Ile181=) c.626-1892T= (n.626-1892T=) | |
3 | g.39394507C>A | CA433164756 | SLC25A38 | c.675C>A (p.Ile225=) c.672C>A (p.Ile224=) c.669C>A (p.Ile223=) c.*20C>A (n.*20C>A) c.723C>A (p.Ile241=) c.711C>A (p.Ile237=) c.705C>A (p.Ile235=) c.543C>A (p.Ile181=) c.626-1891C>A (n.626-1891C>A) | |
3 | g.39394507C>G | CA352205293 | SLC25A38 | c.675C>G (p.Ile225Met) c.672C>G (p.Ile224Met) c.669C>G (p.Ile223Met) c.*20C>G (n.*20C>G) c.723C>G (p.Ile241Met) c.711C>G (p.Ile237Met) c.705C>G (p.Ile235Met) c.543C>G (p.Ile181Met) c.626-1891C>G (n.626-1891C>G) | |
3 | g.39394507C>T | CA433164759 | SLC25A38 | c.675C>T (p.Ile225=) c.672C>T (p.Ile224=) c.669C>T (p.Ile223=) c.*20C>T (n.*20C>T) c.723C>T (p.Ile241=) c.711C>T (p.Ile237=) c.705C>T (p.Ile235=) c.543C>T (p.Ile181=) c.626-1891C>T (n.626-1891C>T) | |
3 | g.39394508A>C | CA352205306 | SLC25A38 | c.676A>C (p.Lys226Gln) c.673A>C (p.Lys225Gln) c.670A>C (p.Lys224Gln) c.*21A>C (n.*21A>C) c.724A>C (p.Lys242Gln) c.712A>C (p.Lys238Gln) c.706A>C (p.Lys236Gln) c.544A>C (p.Lys182Gln) c.626-1890A>C (n.626-1890A>C) | gnomAD v4 |
3 | g.39394508A>G | CA352205312 | SLC25A38 | c.676A>G (p.Lys226Glu) c.673A>G (p.Lys225Glu) c.670A>G (p.Lys224Glu) c.*21A>G (n.*21A>G) c.724A>G (p.Lys242Glu) c.712A>G (p.Lys238Glu) c.706A>G (p.Lys236Glu) c.544A>G (p.Lys182Glu) c.626-1890A>G (n.626-1890A>G) | |
3 | g.39394508A>T | CA352205315 | SLC25A38 | c.676A>T (p.Lys226Ter) c.673A>T (p.Lys225Ter) c.670A>T (p.Lys224Ter) c.*21A>T (n.*21A>T) c.724A>T (p.Lys242Ter) c.712A>T (p.Lys238Ter) c.706A>T (p.Lys236Ter) c.544A>T (p.Lys182Ter) c.626-1890A>T (n.626-1890A>T) | |
3 | g.39394509A= | CA1358939307 | SLC25A38 | c.677A= (p.Lys226=) c.674A= (p.Lys225=) c.671A= (p.Lys224=) c.*22A= (n.*22A=) c.725A= (p.Lys242=) c.713A= (p.Lys238=) c.707A= (p.Lys236=) c.545A= (p.Lys182=) c.626-1889A= (n.626-1889A=) | |
3 | g.39394509A>C | CA352205317 | SLC25A38 | c.677A>C (p.Lys226Thr) c.674A>C (p.Lys225Thr) c.671A>C (p.Lys224Thr) c.*22A>C (n.*22A>C) c.725A>C (p.Lys242Thr) c.713A>C (p.Lys238Thr) c.707A>C (p.Lys236Thr) c.545A>C (p.Lys182Thr) c.626-1889A>C (n.626-1889A>C) | |
3 | g.39394509A>G | CA2327538 | SLC25A38 | c.677A>G (p.Lys226Arg) c.674A>G (p.Lys225Arg) c.671A>G (p.Lys224Arg) c.*22A>G (n.*22A>G) c.725A>G (p.Lys242Arg) c.713A>G (p.Lys238Arg) c.707A>G (p.Lys236Arg) c.545A>G (p.Lys182Arg) c.626-1889A>G (n.626-1889A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394509A>T | CA352205322 | SLC25A38 | c.677A>T (p.Lys226Ile) c.674A>T (p.Lys225Ile) c.671A>T (p.Lys224Ile) c.*22A>T (n.*22A>T) c.725A>T (p.Lys242Ile) c.713A>T (p.Lys238Ile) c.707A>T (p.Lys236Ile) c.545A>T (p.Lys182Ile) c.626-1889A>T (n.626-1889A>T) | |
3 | g.39394510A= | CA1358939308 | SLC25A38 | c.678A= (p.Lys226=) c.675A= (p.Lys225=) c.672A= (p.Lys224=) c.*23A= (n.*23A=) c.726A= (p.Lys242=) c.714A= (p.Lys238=) c.708A= (p.Lys236=) c.546A= (p.Lys182=) c.626-1888A= (n.626-1888A=) | |
3 | g.39394510A>C | CA352205330 | SLC25A38 | c.678A>C (p.Lys226Asn) c.675A>C (p.Lys225Asn) c.672A>C (p.Lys224Asn) c.*23A>C (n.*23A>C) c.726A>C (p.Lys242Asn) c.714A>C (p.Lys238Asn) c.708A>C (p.Lys236Asn) c.546A>C (p.Lys182Asn) c.626-1888A>C (n.626-1888A>C) | |
3 | g.39394510A>G | CA2327539 | SLC25A38 | c.678A>G (p.Lys226=) c.675A>G (p.Lys225=) c.672A>G (p.Lys224=) c.*23A>G (n.*23A>G) c.726A>G (p.Lys242=) c.714A>G (p.Lys238=) c.708A>G (p.Lys236=) c.546A>G (p.Lys182=) c.626-1888A>G (n.626-1888A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394510A>T | CA352205327 | SLC25A38 | c.678A>T (p.Lys226Asn) c.675A>T (p.Lys225Asn) c.672A>T (p.Lys224Asn) c.*23A>T (n.*23A>T) c.726A>T (p.Lys242Asn) c.714A>T (p.Lys238Asn) c.708A>T (p.Lys236Asn) c.546A>T (p.Lys182Asn) c.626-1888A>T (n.626-1888A>T) | |
3 | g.39394511A>C | CA352205333 | SLC25A38 | c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) c.673A>C (p.Thr225Pro) c.*24A>C (n.*24A>C) c.727A>C (p.Thr243Pro) c.715A>C (p.Thr239Pro) c.709A>C (p.Thr237Pro) c.547A>C (p.Thr183Pro) c.626-1887A>C (n.626-1887A>C) | |
3 | g.39394511A>G | CA352205336 | SLC25A38 | c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) c.673A>G (p.Thr225Ala) c.*24A>G (n.*24A>G) c.727A>G (p.Thr243Ala) c.715A>G (p.Thr239Ala) c.709A>G (p.Thr237Ala) c.547A>G (p.Thr183Ala) c.626-1887A>G (n.626-1887A>G) | |
3 | g.39394511A>T | CA352205341 | SLC25A38 | c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) c.673A>T (p.Thr225Ser) c.*24A>T (n.*24A>T) c.727A>T (p.Thr243Ser) c.715A>T (p.Thr239Ser) c.709A>T (p.Thr237Ser) c.547A>T (p.Thr183Ser) c.626-1887A>T (n.626-1887A>T) | |
3 | g.39394512C>A | CA352205345 | SLC25A38 | c.680C>A (p.Thr227Asn) c.677C>A (p.Thr226Asn) c.674C>A (p.Thr225Asn) c.*25C>A (n.*25C>A) c.728C>A (p.Thr243Asn) c.716C>A (p.Thr239Asn) c.710C>A (p.Thr237Asn) c.548C>A (p.Thr183Asn) c.626-1886C>A (n.626-1886C>A) | |
3 | g.39394512C= | CA1358939309 | SLC25A38 | c.680C= (p.Thr227=) c.677C= (p.Thr226=) c.674C= (p.Thr225=) c.*25C= (n.*25C=) c.728C= (p.Thr243=) c.716C= (p.Thr239=) c.710C= (p.Thr237=) c.548C= (p.Thr183=) c.626-1886C= (n.626-1886C=) | |
3 | g.39394512C>G | CA352205347 | SLC25A38 | c.680C>G (p.Thr227Ser) c.677C>G (p.Thr226Ser) c.674C>G (p.Thr225Ser) c.*25C>G (n.*25C>G) c.728C>G (p.Thr243Ser) c.716C>G (p.Thr239Ser) c.710C>G (p.Thr237Ser) c.548C>G (p.Thr183Ser) c.626-1886C>G (n.626-1886C>G) | |
3 | g.39394512C>T | CA352205350 | SLC25A38 | c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) c.674C>T (p.Thr225Ile) c.*25C>T (n.*25C>T) c.728C>T (p.Thr243Ile) c.716C>T (p.Thr239Ile) c.710C>T (p.Thr237Ile) c.548C>T (p.Thr183Ile) c.626-1886C>T (n.626-1886C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394513T>A | CA433164778 | SLC25A38 | c.681T>A (p.Thr227=) c.678T>A (p.Thr226=) c.675T>A (p.Thr225=) c.*26T>A (n.*26T>A) c.729T>A (p.Thr243=) c.717T>A (p.Thr239=) c.711T>A (p.Thr237=) c.549T>A (p.Thr183=) c.626-1885T>A (n.626-1885T>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394513T>C | CA433164777 | SLC25A38 | c.681T>C (p.Thr227=) c.678T>C (p.Thr226=) c.675T>C (p.Thr225=) c.*26T>C (n.*26T>C) c.729T>C (p.Thr243=) c.717T>C (p.Thr239=) c.711T>C (p.Thr237=) c.549T>C (p.Thr183=) c.626-1885T>C (n.626-1885T>C) | |
3 | g.39394513T>G | CA433164775 | SLC25A38 | c.681T>G (p.Thr227=) c.678T>G (p.Thr226=) c.675T>G (p.Thr225=) c.*26T>G (n.*26T>G) c.729T>G (p.Thr243=) c.717T>G (p.Thr239=) c.711T>G (p.Thr237=) c.549T>G (p.Thr183=) c.626-1885T>G (n.626-1885T>G) | |
3 | g.39394513T= | CA1358939310 | SLC25A38 | c.681T= (p.Thr227=) c.678T= (p.Thr226=) c.675T= (p.Thr225=) c.*26T= (n.*26T=) c.729T= (p.Thr243=) c.717T= (p.Thr239=) c.711T= (p.Thr237=) c.549T= (p.Thr183=) c.626-1885T= (n.626-1885T=) | |
3 | g.39394514C>A | CA352205370 | SLC25A38 | c.682C>A (p.His228Asn) c.679C>A (p.His227Asn) c.676C>A (p.His226Asn) c.*27C>A (n.*27C>A) c.730C>A (p.His244Asn) c.718C>A (p.His240Asn) c.712C>A (p.His238Asn) c.550C>A (p.His184Asn) c.626-1884C>A (n.626-1884C>A) | |
3 | g.39394514C= | CA1358939311 | SLC25A38 | c.682C= (p.His228=) c.679C= (p.His227=) c.676C= (p.His226=) c.*27C= (n.*27C=) c.730C= (p.His244=) c.718C= (p.His240=) c.712C= (p.His238=) c.550C= (p.His184=) c.626-1884C= (n.626-1884C=) | |
3 | g.39394514C>G | CA352205353 | SLC25A38 | c.682C>G (p.His228Asp) c.679C>G (p.His227Asp) c.676C>G (p.His226Asp) c.*27C>G (n.*27C>G) c.730C>G (p.His244Asp) c.718C>G (p.His240Asp) c.712C>G (p.His238Asp) c.550C>G (p.His184Asp) c.626-1884C>G (n.626-1884C>G) | |
3 | g.39394514C>T | CA352205369 | SLC25A38 | c.682C>T (p.His228Tyr) c.679C>T (p.His227Tyr) c.676C>T (p.His226Tyr) c.*27C>T (n.*27C>T) c.730C>T (p.His244Tyr) c.718C>T (p.His240Tyr) c.712C>T (p.His238Tyr) c.550C>T (p.His184Tyr) c.626-1884C>T (n.626-1884C>T) | dbSNP |
3 | g.39394515A>C | CA352205371 | SLC25A38 | c.683A>C (p.His228Pro) c.680A>C (p.His227Pro) c.677A>C (p.His226Pro) c.*28A>C (n.*28A>C) c.731A>C (p.His244Pro) c.719A>C (p.His240Pro) c.713A>C (p.His238Pro) c.551A>C (p.His184Pro) c.626-1883A>C (n.626-1883A>C) | |
3 | g.39394515A>G | CA352205375 | SLC25A38 | c.683A>G (p.His228Arg) c.680A>G (p.His227Arg) c.677A>G (p.His226Arg) c.*28A>G (n.*28A>G) c.731A>G (p.His244Arg) c.719A>G (p.His240Arg) c.713A>G (p.His238Arg) c.551A>G (p.His184Arg) c.626-1883A>G (n.626-1883A>G) | |
3 | g.39394515A>T | CA352205376 | SLC25A38 | c.683A>T (p.His228Leu) c.680A>T (p.His227Leu) c.677A>T (p.His226Leu) c.*28A>T (n.*28A>T) c.731A>T (p.His244Leu) c.719A>T (p.His240Leu) c.713A>T (p.His238Leu) c.551A>T (p.His184Leu) c.626-1883A>T (n.626-1883A>T) | |
3 | g.39394517_39394518del | CA2665162993 | SLC25A38 | c.685_686del (p.Met229AlafsTer?) c.682_683del (p.Met228AlafsTer?) c.679_680del (p.Met227AlafsTer?) c.*30_*31del (n.*30_*31del) c.733_734del (p.Met245AlafsTer?) c.721_722del (p.Met241AlafsTer?) c.715_716del (p.Met239AlafsTer?) c.553_554del (p.Met185AlafsTer?) c.626-1881_626-1880del (n.626-1881_626-1880del) | gnomAD v4 |
3 | g.39394516T>A | CA352205377 | SLC25A38 | c.684T>A (p.His228Gln) c.681T>A (p.His227Gln) c.678T>A (p.His226Gln) c.*29T>A (n.*29T>A) c.732T>A (p.His244Gln) c.720T>A (p.His240Gln) c.714T>A (p.His238Gln) c.552T>A (p.His184Gln) c.626-1882T>A (n.626-1882T>A) | gnomAD v4 |
3 | g.39394516T>C | CA433164786 | SLC25A38 | c.684T>C (p.His228=) c.681T>C (p.His227=) c.678T>C (p.His226=) c.*29T>C (n.*29T>C) c.732T>C (p.His244=) c.720T>C (p.His240=) c.714T>C (p.His238=) c.552T>C (p.His184=) c.626-1882T>C (n.626-1882T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394516T>G | CA352205378 | SLC25A38 | c.684T>G (p.His228Gln) c.681T>G (p.His227Gln) c.678T>G (p.His226Gln) c.*29T>G (n.*29T>G) c.732T>G (p.His244Gln) c.720T>G (p.His240Gln) c.714T>G (p.His238Gln) c.552T>G (p.His184Gln) c.626-1882T>G (n.626-1882T>G) | |
3 | g.39394516T= | CA1358939312 | SLC25A38 | c.684T= (p.His228=) c.681T= (p.His227=) c.678T= (p.His226=) c.*29T= (n.*29T=) c.732T= (p.His244=) c.720T= (p.His240=) c.714T= (p.His238=) c.552T= (p.His184=) c.626-1882T= (n.626-1882T=) | |
3 | g.39394517A>C | CA352205379 | SLC25A38 | c.685A>C (p.Met229Leu) c.682A>C (p.Met228Leu) c.679A>C (p.Met227Leu) c.*30A>C (n.*30A>C) c.733A>C (p.Met245Leu) c.721A>C (p.Met241Leu) c.715A>C (p.Met239Leu) c.553A>C (p.Met185Leu) c.626-1881A>C (n.626-1881A>C) | |
3 | g.39394517A>G | CA352205381 | SLC25A38 | c.685A>G (p.Met229Val) c.682A>G (p.Met228Val) c.679A>G (p.Met227Val) c.*30A>G (n.*30A>G) c.733A>G (p.Met245Val) c.721A>G (p.Met241Val) c.715A>G (p.Met239Val) c.553A>G (p.Met185Val) c.626-1881A>G (n.626-1881A>G) | |
3 | g.39394517A>T | CA352205380 | SLC25A38 | c.685A>T (p.Met229Leu) c.682A>T (p.Met228Leu) c.679A>T (p.Met227Leu) c.*30A>T (n.*30A>T) c.733A>T (p.Met245Leu) c.721A>T (p.Met241Leu) c.715A>T (p.Met239Leu) c.553A>T (p.Met185Leu) c.626-1881A>T (n.626-1881A>T) | |
3 | g.39394518T>A | CA352205382 | SLC25A38 | c.686T>A (p.Met229Lys) c.683T>A (p.Met228Lys) c.680T>A (p.Met227Lys) c.*31T>A (n.*31T>A) c.734T>A (p.Met245Lys) c.722T>A (p.Met241Lys) c.716T>A (p.Met239Lys) c.554T>A (p.Met185Lys) c.626-1880T>A (n.626-1880T>A) | |
3 | g.39394518T>C | CA352205385 | SLC25A38 | c.686T>C (p.Met229Thr) c.683T>C (p.Met228Thr) c.680T>C (p.Met227Thr) c.*31T>C (n.*31T>C) c.734T>C (p.Met245Thr) c.722T>C (p.Met241Thr) c.716T>C (p.Met239Thr) c.554T>C (p.Met185Thr) c.626-1880T>C (n.626-1880T>C) | gnomAD v4 |
3 | g.39394518T>G | CA352205384 | SLC25A38 | c.686T>G (p.Met229Arg) c.683T>G (p.Met228Arg) c.680T>G (p.Met227Arg) c.*31T>G (n.*31T>G) c.734T>G (p.Met245Arg) c.722T>G (p.Met241Arg) c.716T>G (p.Met239Arg) c.554T>G (p.Met185Arg) c.626-1880T>G (n.626-1880T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394518T= | CA1358939313 | SLC25A38 | c.686T= (p.Met229=) c.683T= (p.Met228=) c.680T= (p.Met227=) c.*31T= (n.*31T=) c.734T= (p.Met245=) c.722T= (p.Met241=) c.716T= (p.Met239=) c.554T= (p.Met185=) c.626-1880T= (n.626-1880T=) | |
3 | g.39394519G>A | CA352205388 | SLC25A38 | c.687G>A (p.Met229Ile) c.684G>A (p.Met228Ile) c.681G>A (p.Met227Ile) c.*32G>A (n.*32G>A) c.735G>A (p.Met245Ile) c.723G>A (p.Met241Ile) c.717G>A (p.Met239Ile) c.555G>A (p.Met185Ile) c.626-1879G>A (n.626-1879G>A) | |
3 | g.39394519G>C | CA352205391 | SLC25A38 | c.687G>C (p.Met229Ile) c.684G>C (p.Met228Ile) c.681G>C (p.Met227Ile) c.*32G>C (n.*32G>C) c.735G>C (p.Met245Ile) c.723G>C (p.Met241Ile) c.717G>C (p.Met239Ile) c.555G>C (p.Met185Ile) c.626-1879G>C (n.626-1879G>C) | |
3 | g.39394519G= | CA1358939314 | SLC25A38 | c.687G= (p.Met229=) c.684G= (p.Met228=) c.681G= (p.Met227=) c.*32G= (n.*32G=) c.735G= (p.Met245=) c.723G= (p.Met241=) c.717G= (p.Met239=) c.555G= (p.Met185=) c.626-1879G= (n.626-1879G=) | |
3 | g.39394519G>T | CA352205389 | SLC25A38 | c.687G>T (p.Met229Ile) c.684G>T (p.Met228Ile) c.681G>T (p.Met227Ile) c.*32G>T (n.*32G>T) c.735G>T (p.Met245Ile) c.723G>T (p.Met241Ile) c.717G>T (p.Met239Ile) c.555G>T (p.Met185Ile) c.626-1879G>T (n.626-1879G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394520C>A | CA352205392 | SLC25A38 | c.688C>A (p.Gln230Lys) c.685C>A (p.Gln229Lys) c.682C>A (p.Gln228Lys) c.*33C>A (n.*33C>A) c.736C>A (p.Gln246Lys) c.724C>A (p.Gln242Lys) c.718C>A (p.Gln240Lys) c.556C>A (p.Gln186Lys) c.626-1878C>A (n.626-1878C>A) | dbSNP |
3 | g.39394520C>G | CA352205395 | SLC25A38 | c.688C>G (p.Gln230Glu) c.685C>G (p.Gln229Glu) c.682C>G (p.Gln228Glu) c.*33C>G (n.*33C>G) c.736C>G (p.Gln246Glu) c.724C>G (p.Gln242Glu) c.718C>G (p.Gln240Glu) c.556C>G (p.Gln186Glu) c.626-1878C>G (n.626-1878C>G) | |
3 | g.39394520C>T | CA352205393 | SLC25A38 | c.688C>T (p.Gln230Ter) c.685C>T (p.Gln229Ter) c.682C>T (p.Gln228Ter) c.*33C>T (n.*33C>T) c.736C>T (p.Gln246Ter) c.724C>T (p.Gln242Ter) c.718C>T (p.Gln240Ter) c.556C>T (p.Gln186Ter) c.626-1878C>T (n.626-1878C>T) | |
3 | g.39394521A>C | CA352205398 | SLC25A38 | c.689A>C (p.Gln230Pro) c.686A>C (p.Gln229Pro) c.683A>C (p.Gln228Pro) c.*34A>C (n.*34A>C) c.737A>C (p.Gln246Pro) c.725A>C (p.Gln242Pro) c.719A>C (p.Gln240Pro) c.557A>C (p.Gln186Pro) c.626-1877A>C (n.626-1877A>C) | |
3 | g.39394521A>G | CA352205406 | SLC25A38 | c.689A>G (p.Gln230Arg) c.686A>G (p.Gln229Arg) c.683A>G (p.Gln228Arg) c.*34A>G (n.*34A>G) c.737A>G (p.Gln246Arg) c.725A>G (p.Gln242Arg) c.719A>G (p.Gln240Arg) c.557A>G (p.Gln186Arg) c.626-1877A>G (n.626-1877A>G) | |
3 | g.39394521A>T | CA352205411 | SLC25A38 | c.689A>T (p.Gln230Leu) c.686A>T (p.Gln229Leu) c.683A>T (p.Gln228Leu) c.*34A>T (n.*34A>T) c.737A>T (p.Gln246Leu) c.725A>T (p.Gln242Leu) c.719A>T (p.Gln240Leu) c.557A>T (p.Gln186Leu) c.626-1877A>T (n.626-1877A>T) | |
3 | g.39394522G>A | CA433164805 | SLC25A38 | c.690G>A (p.Gln230=) c.687G>A (p.Gln229=) c.684G>A (p.Gln228=) c.*35G>A (n.*35G>A) c.738G>A (p.Gln246=) c.726G>A (p.Gln242=) c.720G>A (p.Gln240=) c.558G>A (p.Gln186=) c.626-1876G>A (n.626-1876G>A) | |
3 | g.39394522G>C | CA352205413 | SLC25A38 | c.690G>C (p.Gln230His) c.687G>C (p.Gln229His) c.684G>C (p.Gln228His) c.*35G>C (n.*35G>C) c.738G>C (p.Gln246His) c.726G>C (p.Gln242His) c.720G>C (p.Gln240His) c.558G>C (p.Gln186His) c.626-1876G>C (n.626-1876G>C) | |
3 | g.39394522G>T | CA352205414 | SLC25A38 | c.690G>T (p.Gln230His) c.687G>T (p.Gln229His) c.684G>T (p.Gln228His) c.*35G>T (n.*35G>T) c.738G>T (p.Gln246His) c.726G>T (p.Gln242His) c.720G>T (p.Gln240His) c.558G>T (p.Gln186His) c.626-1876G>T (n.626-1876G>T) | |
3 | g.39394523C>A | CA352205417 | SLC25A38 | c.691C>A (p.Leu231Ile) c.688C>A (p.Leu230Ile) c.685C>A (p.Leu229Ile) c.*36C>A (n.*36C>A) c.739C>A (p.Leu247Ile) c.727C>A (p.Leu243Ile) c.721C>A (p.Leu241Ile) c.559C>A (p.Leu187Ile) c.626-1875C>A (n.626-1875C>A) | |
3 | g.39394523C= | CA1358939315 | SLC25A38 | c.691C= (p.Leu231=) c.688C= (p.Leu230=) c.685C= (p.Leu229=) c.*36C= (n.*36C=) c.739C= (p.Leu247=) c.727C= (p.Leu243=) c.721C= (p.Leu241=) c.559C= (p.Leu187=) c.626-1875C= (n.626-1875C=) | |
3 | g.39394523C>G | CA352205416 | SLC25A38 | c.691C>G (p.Leu231Val) c.688C>G (p.Leu230Val) c.685C>G (p.Leu229Val) c.*36C>G (n.*36C>G) c.739C>G (p.Leu247Val) c.727C>G (p.Leu243Val) c.721C>G (p.Leu241Val) c.559C>G (p.Leu187Val) c.626-1875C>G (n.626-1875C>G) | |
3 | g.39394523C>T | CA352205415 | SLC25A38 | c.691C>T (p.Leu231Phe) c.688C>T (p.Leu230Phe) c.685C>T (p.Leu229Phe) c.*36C>T (n.*36C>T) c.739C>T (p.Leu247Phe) c.727C>T (p.Leu243Phe) c.721C>T (p.Leu241Phe) c.559C>T (p.Leu187Phe) c.626-1875C>T (n.626-1875C>T) | dbSNP gnomAD v4 |
3 | g.39394524T>A | CA352205419 | SLC25A38 | c.692T>A (p.Leu231His) c.689T>A (p.Leu230His) c.686T>A (p.Leu229His) c.*37T>A (n.*37T>A) c.740T>A (p.Leu247His) c.728T>A (p.Leu243His) c.722T>A (p.Leu241His) c.560T>A (p.Leu187His) c.626-1874T>A (n.626-1874T>A) | |
3 | g.39394524T>C | CA352205422 | SLC25A38 | c.692T>C (p.Leu231Pro) c.689T>C (p.Leu230Pro) c.686T>C (p.Leu229Pro) c.*37T>C (n.*37T>C) c.740T>C (p.Leu247Pro) c.728T>C (p.Leu243Pro) c.722T>C (p.Leu241Pro) c.560T>C (p.Leu187Pro) c.626-1874T>C (n.626-1874T>C) | |
3 | g.39394524T>G | CA352205427 | SLC25A38 | c.692T>G (p.Leu231Arg) c.689T>G (p.Leu230Arg) c.686T>G (p.Leu229Arg) c.*37T>G (n.*37T>G) c.740T>G (p.Leu247Arg) c.728T>G (p.Leu243Arg) c.722T>G (p.Leu241Arg) c.560T>G (p.Leu187Arg) c.626-1874T>G (n.626-1874T>G) | |
3 | g.39394525T>A | CA433164813 | SLC25A38 | c.693T>A (p.Leu231=) c.690T>A (p.Leu230=) c.687T>A (p.Leu229=) c.*38T>A (n.*38T>A) c.741T>A (p.Leu247=) c.729T>A (p.Leu243=) c.723T>A (p.Leu241=) c.561T>A (p.Leu187=) c.626-1873T>A (n.626-1873T>A) | |
3 | g.39394525T>C | CA433164815 | SLC25A38 | c.693T>C (p.Leu231=) c.690T>C (p.Leu230=) c.687T>C (p.Leu229=) c.*38T>C (n.*38T>C) c.741T>C (p.Leu247=) c.729T>C (p.Leu243=) c.723T>C (p.Leu241=) c.561T>C (p.Leu187=) c.626-1873T>C (n.626-1873T>C) | |
3 | g.39394525T>G | CA433164816 | SLC25A38 | c.693T>G (p.Leu231=) c.690T>G (p.Leu230=) c.687T>G (p.Leu229=) c.*38T>G (n.*38T>G) c.741T>G (p.Leu247=) c.729T>G (p.Leu243=) c.723T>G (p.Leu241=) c.561T>G (p.Leu187=) c.626-1873T>G (n.626-1873T>G) | |
3 | g.39394526T>A | CA352205432 | SLC25A38 | c.694T>A (p.Tyr232Asn) c.691T>A (p.Tyr231Asn) c.688T>A (p.Tyr230Asn) c.*39T>A (n.*39T>A) c.742T>A (p.Tyr248Asn) c.730T>A (p.Tyr244Asn) c.724T>A (p.Tyr242Asn) c.562T>A (p.Tyr188Asn) c.626-1872T>A (n.626-1872T>A) | |
3 | g.39394526T>C | CA352205433 | SLC25A38 | c.694T>C (p.Tyr232His) c.691T>C (p.Tyr231His) c.688T>C (p.Tyr230His) c.*39T>C (n.*39T>C) c.742T>C (p.Tyr248His) c.730T>C (p.Tyr244His) c.724T>C (p.Tyr242His) c.562T>C (p.Tyr188His) c.626-1872T>C (n.626-1872T>C) | |
3 | g.39394526T>G | CA352205434 | SLC25A38 | c.694T>G (p.Tyr232Asp) c.691T>G (p.Tyr231Asp) c.688T>G (p.Tyr230Asp) c.*39T>G (n.*39T>G) c.742T>G (p.Tyr248Asp) c.730T>G (p.Tyr244Asp) c.724T>G (p.Tyr242Asp) c.562T>G (p.Tyr188Asp) c.626-1872T>G (n.626-1872T>G) | |
3 | g.39394527A>C | CA352205435 | SLC25A38 | c.695A>C (p.Tyr232Ser) c.692A>C (p.Tyr231Ser) c.689A>C (p.Tyr230Ser) c.*40A>C (n.*40A>C) c.743A>C (p.Tyr248Ser) c.731A>C (p.Tyr244Ser) c.725A>C (p.Tyr242Ser) c.563A>C (p.Tyr188Ser) c.626-1871A>C (n.626-1871A>C) | gnomAD v4 |
3 | g.39394527A>G | CA352205437 | SLC25A38 | c.695A>G (p.Tyr232Cys) c.692A>G (p.Tyr231Cys) c.689A>G (p.Tyr230Cys) c.*40A>G (n.*40A>G) c.743A>G (p.Tyr248Cys) c.731A>G (p.Tyr244Cys) c.725A>G (p.Tyr242Cys) c.563A>G (p.Tyr188Cys) c.626-1871A>G (n.626-1871A>G) | |
3 | g.39394527A>T | CA352205436 | SLC25A38 | c.695A>T (p.Tyr232Phe) c.692A>T (p.Tyr231Phe) c.689A>T (p.Tyr230Phe) c.*40A>T (n.*40A>T) c.743A>T (p.Tyr248Phe) c.731A>T (p.Tyr244Phe) c.725A>T (p.Tyr242Phe) c.563A>T (p.Tyr188Phe) c.626-1871A>T (n.626-1871A>T) | COSMIC |
3 | g.39394528T>A | CA352205439 | SLC25A38 | c.696T>A (p.Tyr232Ter) c.693T>A (p.Tyr231Ter) c.690T>A (p.Tyr230Ter) c.*41T>A (n.*41T>A) c.744T>A (p.Tyr248Ter) c.732T>A (p.Tyr244Ter) c.726T>A (p.Tyr242Ter) c.564T>A (p.Tyr188Ter) c.626-1870T>A (n.626-1870T>A) | |
3 | g.39394528T>C | CA2327540 | SLC25A38 | c.696T>C (p.Tyr232=) c.693T>C (p.Tyr231=) c.690T>C (p.Tyr230=) c.*41T>C (n.*41T>C) c.744T>C (p.Tyr248=) c.732T>C (p.Tyr244=) c.726T>C (p.Tyr242=) c.564T>C (p.Tyr188=) c.626-1870T>C (n.626-1870T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394528T>G | CA352205447 | SLC25A38 | c.696T>G (p.Tyr232Ter) c.693T>G (p.Tyr231Ter) c.690T>G (p.Tyr230Ter) c.*41T>G (n.*41T>G) c.744T>G (p.Tyr248Ter) c.732T>G (p.Tyr244Ter) c.726T>G (p.Tyr242Ter) c.564T>G (p.Tyr188Ter) c.626-1870T>G (n.626-1870T>G) | dbSNP gnomAD v2 |
3 | g.39394528T= | CA1358939316 | SLC25A38 | c.696T= (p.Tyr232=) c.693T= (p.Tyr231=) c.690T= (p.Tyr230=) c.*41T= (n.*41T=) c.744T= (p.Tyr248=) c.732T= (p.Tyr244=) c.726T= (p.Tyr242=) c.564T= (p.Tyr188=) c.626-1870T= (n.626-1870T=) | |
3 | g.39394529C>A | CA352205452 | SLC25A38 | c.697C>A (p.Pro233Thr) c.694C>A (p.Pro232Thr) c.691C>A (p.Pro231Thr) c.*42C>A (n.*42C>A) c.745C>A (p.Pro249Thr) c.733C>A (p.Pro245Thr) c.727C>A (p.Pro243Thr) c.565C>A (p.Pro189Thr) c.626-1869C>A (n.626-1869C>A) | |
3 | g.39394529C>G | CA352205455 | SLC25A38 | c.697C>G (p.Pro233Ala) c.694C>G (p.Pro232Ala) c.691C>G (p.Pro231Ala) c.*42C>G (n.*42C>G) c.745C>G (p.Pro249Ala) c.733C>G (p.Pro245Ala) c.727C>G (p.Pro243Ala) c.565C>G (p.Pro189Ala) c.626-1869C>G (n.626-1869C>G) | |
3 | g.39394529C>T | CA352205460 | SLC25A38 | c.697C>T (p.Pro233Ser) c.694C>T (p.Pro232Ser) c.691C>T (p.Pro231Ser) c.*42C>T (n.*42C>T) c.745C>T (p.Pro249Ser) c.733C>T (p.Pro245Ser) c.727C>T (p.Pro243Ser) c.565C>T (p.Pro189Ser) c.626-1869C>T (n.626-1869C>T) | |
3 | g.39394530C>A | CA352205466 | SLC25A38 | c.698C>A (p.Pro233Gln) c.695C>A (p.Pro232Gln) c.692C>A (p.Pro231Gln) c.*43C>A (n.*43C>A) c.746C>A (p.Pro249Gln) c.734C>A (p.Pro245Gln) c.728C>A (p.Pro243Gln) c.566C>A (p.Pro189Gln) c.626-1868C>A (n.626-1868C>A) | |
3 | g.39394530C>G | CA352205469 | SLC25A38 | c.698C>G (p.Pro233Arg) c.695C>G (p.Pro232Arg) c.692C>G (p.Pro231Arg) c.*43C>G (n.*43C>G) c.746C>G (p.Pro249Arg) c.734C>G (p.Pro245Arg) c.728C>G (p.Pro243Arg) c.566C>G (p.Pro189Arg) c.626-1868C>G (n.626-1868C>G) | gnomAD v4 |
3 | g.39394530C>T | CA352205477 | SLC25A38 | c.698C>T (p.Pro233Leu) c.695C>T (p.Pro232Leu) c.692C>T (p.Pro231Leu) c.*43C>T (n.*43C>T) c.746C>T (p.Pro249Leu) c.734C>T (p.Pro245Leu) c.728C>T (p.Pro243Leu) c.566C>T (p.Pro189Leu) c.626-1868C>T (n.626-1868C>T) | |
3 | g.39394531A= | CA1358939317 | SLC25A38 | c.699A= (p.Pro233=) c.696A= (p.Pro232=) c.693A= (p.Pro231=) c.*44A= (n.*44A=) c.747A= (p.Pro249=) c.735A= (p.Pro245=) c.729A= (p.Pro243=) c.567A= (p.Pro189=) c.626-1867A= (n.626-1867A=) | |
3 | g.39394531A>C | CA433164836 | SLC25A38 | c.699A>C (p.Pro233=) c.696A>C (p.Pro232=) c.693A>C (p.Pro231=) c.*44A>C (n.*44A>C) c.747A>C (p.Pro249=) c.735A>C (p.Pro245=) c.729A>C (p.Pro243=) c.567A>C (p.Pro189=) c.626-1867A>C (n.626-1867A>C) | |
3 | g.39394531A>G | CA433164838 | SLC25A38 | c.699A>G (p.Pro233=) c.696A>G (p.Pro232=) c.693A>G (p.Pro231=) c.*44A>G (n.*44A>G) c.747A>G (p.Pro249=) c.735A>G (p.Pro245=) c.729A>G (p.Pro243=) c.567A>G (p.Pro189=) c.626-1867A>G (n.626-1867A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394531A>T | CA433164839 | SLC25A38 | c.699A>T (p.Pro233=) c.696A>T (p.Pro232=) c.693A>T (p.Pro231=) c.*44A>T (n.*44A>T) c.747A>T (p.Pro249=) c.735A>T (p.Pro245=) c.729A>T (p.Pro243=) c.567A>T (p.Pro189=) c.626-1867A>T (n.626-1867A>T) | |
3 | g.39394532C>A | CA352205481 | SLC25A38 | c.700C>A (p.Leu234Met) c.697C>A (p.Leu233Met) c.694C>A (p.Leu232Met) c.*45C>A (n.*45C>A) c.748C>A (p.Leu250Met) c.736C>A (p.Leu246Met) c.730C>A (p.Leu244Met) c.568C>A (p.Leu190Met) c.626-1866C>A (n.626-1866C>A) | |
3 | g.39394532C>G | CA352205483 | SLC25A38 | c.700C>G (p.Leu234Val) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) c.*45C>G (n.*45C>G) c.748C>G (p.Leu250Val) c.736C>G (p.Leu246Val) c.730C>G (p.Leu244Val) c.568C>G (p.Leu190Val) c.626-1866C>G (n.626-1866C>G) | |
3 | g.39394532C>T | CA433164843 | SLC25A38 | c.700C>T (p.Leu234=) c.697C>T (p.Leu233=) c.694C>T (p.Leu232=) c.*45C>T (n.*45C>T) c.748C>T (p.Leu250=) c.736C>T (p.Leu246=) c.730C>T (p.Leu244=) c.568C>T (p.Leu190=) c.626-1866C>T (n.626-1866C>T) | |
3 | g.39394532_39394533delinsCT | CA1358939318 | SLC25A38 | c.700_701delinsCT (p.Leu234=) c.697_698delinsCT (p.Leu233=) c.694_695delinsCT (p.Leu232=) c.*45_*46delinsCT (n.*45_*46delinsCT) c.748_749delinsCT (p.Leu250=) c.736_737delinsCT (p.Leu246=) c.730_731delinsCT (p.Leu244=) c.568_569delinsCT (p.Leu190=) c.626-1866_626-1865delinsCT (n.626-1866_626-1865delinsCT) | |
3 | g.39394533del | CA913102802 | SLC25A38 | c.701del (p.Leu234ArgfsTer10) c.698del (p.Leu233ArgfsTer10) c.695del (p.Leu232ArgfsTer10) c.*46del (n.*46del) c.749del (p.Leu250ArgfsTer10) c.737del (p.Leu246ArgfsTer10) c.731del (p.Leu244ArgfsTer10) c.569del (p.Leu190ArgfsTer10) c.626-1865del (n.626-1865del) | dbSNP gnomAD v4 |
3 | g.39394533T>A | CA352205489 | SLC25A38 | c.701T>A (p.Leu234Gln) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) c.*46T>A (n.*46T>A) c.749T>A (p.Leu250Gln) c.737T>A (p.Leu246Gln) c.731T>A (p.Leu244Gln) c.569T>A (p.Leu190Gln) c.626-1865T>A (n.626-1865T>A) | |
3 | g.39394533T>C | CA352205497 | SLC25A38 | c.701T>C (p.Leu234Pro) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) c.*46T>C (n.*46T>C) c.749T>C (p.Leu250Pro) c.737T>C (p.Leu246Pro) c.731T>C (p.Leu244Pro) c.569T>C (p.Leu190Pro) c.626-1865T>C (n.626-1865T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394533T>G | CA352205492 | SLC25A38 | c.701T>G (p.Leu234Arg) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) c.*46T>G (n.*46T>G) c.749T>G (p.Leu250Arg) c.737T>G (p.Leu246Arg) c.731T>G (p.Leu244Arg) c.569T>G (p.Leu190Arg) c.626-1865T>G (n.626-1865T>G) | |
3 | g.39394533T= | CA1358939319 | SLC25A38 | c.701T= (p.Leu234=) c.698T= (p.Leu233=) c.695T= (p.Leu232=) c.*46T= (n.*46T=) c.749T= (p.Leu250=) c.737T= (p.Leu246=) c.731T= (p.Leu244=) c.569T= (p.Leu190=) c.626-1865T= (n.626-1865T=) |