Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.39394429T>ACA433164163SLC25A38c.597T>A (p.Leu199=)
c.594T>A (p.Leu198=)
c.591T>A (p.Leu197=)
c.722-21T>A (n.722-21T>A)
c.645T>A (p.Leu215=)
c.633T>A (p.Leu211=)
c.627T>A (p.Leu209=)
c.465T>A (p.Leu155=)
c.626-1969T>A (n.626-1969T>A)
3g.39394429T>CCA433164156SLC25A38c.597T>C (p.Leu199=)
c.594T>C (p.Leu198=)
c.591T>C (p.Leu197=)
c.722-21T>C (n.722-21T>C)
c.645T>C (p.Leu215=)
c.633T>C (p.Leu211=)
c.627T>C (p.Leu209=)
c.465T>C (p.Leu155=)
c.626-1969T>C (n.626-1969T>C)
3g.39394429T>GCA433164153SLC25A38c.597T>G (p.Leu199=)
c.594T>G (p.Leu198=)
c.591T>G (p.Leu197=)
c.722-21T>G (n.722-21T>G)
c.645T>G (p.Leu215=)
c.633T>G (p.Leu211=)
c.627T>G (p.Leu209=)
c.465T>G (p.Leu155=)
c.626-1969T>G (n.626-1969T>G)
3g.39394430A>CCA352204697SLC25A38c.598A>C (p.Ile200Leu)
c.595A>C (p.Ile199Leu)
c.592A>C (p.Ile198Leu)
c.722-20A>C (n.722-20A>C)
c.646A>C (p.Ile216Leu)
c.634A>C (p.Ile212Leu)
c.628A>C (p.Ile210Leu)
c.466A>C (p.Ile156Leu)
c.626-1968A>C (n.626-1968A>C)
3g.39394430A>GCA352204699SLC25A38c.598A>G (p.Ile200Val)
c.595A>G (p.Ile199Val)
c.592A>G (p.Ile198Val)
c.722-20A>G (n.722-20A>G)
c.646A>G (p.Ile216Val)
c.634A>G (p.Ile212Val)
c.628A>G (p.Ile210Val)
c.466A>G (p.Ile156Val)
c.626-1968A>G (n.626-1968A>G)
3g.39394430A>TCA352204701SLC25A38c.598A>T (p.Ile200Phe)
c.595A>T (p.Ile199Phe)
c.592A>T (p.Ile198Phe)
c.722-20A>T (n.722-20A>T)
c.646A>T (p.Ile216Phe)
c.634A>T (p.Ile212Phe)
c.628A>T (p.Ile210Phe)
c.466A>T (p.Ile156Phe)
c.626-1968A>T (n.626-1968A>T)
3g.39394431T>ACA352204703SLC25A38c.599T>A (p.Ile200Asn)
c.596T>A (p.Ile199Asn)
c.593T>A (p.Ile198Asn)
c.722-19T>A (n.722-19T>A)
c.647T>A (p.Ile216Asn)
c.635T>A (p.Ile212Asn)
c.629T>A (p.Ile210Asn)
c.467T>A (p.Ile156Asn)
c.626-1967T>A (n.626-1967T>A)
3g.39394431T>CCA352204709SLC25A38c.599T>C (p.Ile200Thr)
c.596T>C (p.Ile199Thr)
c.593T>C (p.Ile198Thr)
c.722-19T>C (n.722-19T>C)
c.647T>C (p.Ile216Thr)
c.635T>C (p.Ile212Thr)
c.629T>C (p.Ile210Thr)
c.467T>C (p.Ile156Thr)
c.626-1967T>C (n.626-1967T>C)
3g.39394431T>GCA352204705SLC25A38c.599T>G (p.Ile200Ser)
c.596T>G (p.Ile199Ser)
c.593T>G (p.Ile198Ser)
c.722-19T>G (n.722-19T>G)
c.647T>G (p.Ile216Ser)
c.635T>G (p.Ile212Ser)
c.629T>G (p.Ile210Ser)
c.467T>G (p.Ile156Ser)
c.626-1967T>G (n.626-1967T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.39394431T=CA1358939278SLC25A38c.599T= (p.Ile200=)
c.596T= (p.Ile199=)
c.593T= (p.Ile198=)
c.722-19T= (n.722-19T=)
c.647T= (p.Ile216=)
c.635T= (p.Ile212=)
c.629T= (p.Ile210=)
c.467T= (p.Ile156=)
c.626-1967T= (n.626-1967T=)
3g.39394432T>ACA433164185SLC25A38c.600T>A (p.Ile200=)
c.597T>A (p.Ile199=)
c.594T>A (p.Ile198=)
c.722-18T>A (n.722-18T>A)
c.648T>A (p.Ile216=)
c.636T>A (p.Ile212=)
c.630T>A (p.Ile210=)
c.468T>A (p.Ile156=)
c.626-1966T>A (n.626-1966T>A)
3g.39394432T>CCA433164189SLC25A38c.600T>C (p.Ile200=)
c.597T>C (p.Ile199=)
c.594T>C (p.Ile198=)
c.722-18T>C (n.722-18T>C)
c.648T>C (p.Ile216=)
c.636T>C (p.Ile212=)
c.630T>C (p.Ile210=)
c.468T>C (p.Ile156=)
c.626-1966T>C (n.626-1966T>C)
3g.39394432T>GCA352204711SLC25A38c.600T>G (p.Ile200Met)
c.597T>G (p.Ile199Met)
c.594T>G (p.Ile198Met)
c.722-18T>G (n.722-18T>G)
c.648T>G (p.Ile216Met)
c.636T>G (p.Ile212Met)
c.630T>G (p.Ile210Met)
c.468T>G (p.Ile156Met)
c.626-1966T>G (n.626-1966T>G)
3g.39394433C>ACA352204713SLC25A38c.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)
3g.39394433C>GCA352204714SLC25A38c.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)
3g.39394433C>TCA352204716SLC25A38c.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)
3g.39394434C>ACA352204717SLC25A38c.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)
3g.39394434C=CA1358939279SLC25A38c.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=)
3g.39394434C>GCA352204720SLC25A38c.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)
3g.39394434C>TCA352204718SLC25A38c.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
3g.39394435T>ACA433164210SLC25A38c.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)
3g.39394435T>CCA433164211SLC25A38c.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
3g.39394435T>GCA433164212SLC25A38c.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)
3g.39394436A=CA1358939280SLC25A38c.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=)
3g.39394436A>CCA352204722SLC25A38c.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)
3g.39394436A>GCA352204726SLC25A38c.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)
3g.39394436A>TCA2327526SLC25A38c.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
3g.39394437T>ACA352204729SLC25A38c.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)
3g.39394437T>CCA352204730SLC25A38c.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)
3g.39394437T>GCA352204731SLC25A38c.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)
3g.39394438T>ACA433164236SLC25A38c.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)
3g.39394438T>CCA433164240SLC25A38c.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)
3g.39394438T>GCA352204733SLC25A38c.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
3g.39394438T=CA1358939281SLC25A38c.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=)
3g.39394439A=CA1358939282SLC25A38c.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=)
3g.39394439A>CCA352204736SLC25A38c.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)
3g.39394439A>GCA2327527SLC25A38c.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
3g.39394439A>TCA352204737SLC25A38c.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)
3g.39394440C>ACA352204738SLC25A38c.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)
3g.39394440C>GCA352204739SLC25A38c.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)
3g.39394440C>TCA352204742SLC25A38c.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
3g.39394441A=CA1358939283SLC25A38c.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=)
3g.39394441A>CCA433164258SLC25A38c.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)
3g.39394441A>GCA433164254SLC25A38c.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)
3g.39394441A>TCA433164255SLC25A38c.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
3g.39394442A=CA1358939284SLC25A38c.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=)
3g.39394442A>CCA352204751SLC25A38c.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
3g.39394442A>GCA352204747SLC25A38c.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)
3g.39394442A>TCA352204746SLC25A38c.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)
3g.39394443A>CCA352204757SLC25A38c.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)
3g.39394443A>GCA352204763SLC25A38c.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)
3g.39394443A>TCA352204766SLC25A38c.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)
3g.39394444T>ACA352204769SLC25A38c.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)
3g.39394444T>CCA433164292SLC25A38c.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)
3g.39394444T>GCA352204772SLC25A38c.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
3g.39394444T=CA1358939285SLC25A38c.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=)
3g.39394445T>ACA352204773SLC25A38c.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)
3g.39394445T>CCA2327528SLC25A38c.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
3g.39394445T>GCA352204778SLC25A38c.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)
3g.39394445T=CA1358939286SLC25A38c.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=)
3g.39394446T>ACA352204781SLC25A38c.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)
3g.39394446T>CCA73040716SLC25A38c.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
3g.39394446T>GCA352204785SLC25A38c.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)
3g.39394446T=CA1358939287SLC25A38c.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=)
3g.39394447C>ACA352204786SLC25A38c.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)
3g.39394447C>GCA352204789SLC25A38c.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)
3g.39394447C>TCA433164328SLC25A38c.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)
3g.39394448A>CCA352204796SLC25A38c.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)
3g.39394448A>GCA352204797SLC25A38c.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)
3g.39394448A>TCA352204794SLC25A38c.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
3g.39394448_39394462delinsAGCTGTGGGATATTTCA1358939288SLC25A38c.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)
3g.39394449G>ACA352204798SLC25A38c.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)
3g.39394449G>CCA352204799SLC25A38c.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)
3g.39394449G>TCA352204801SLC25A38c.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)
3g.39394453_39394466delCA2327529SLC25A38c.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
3g.39394450C>ACA352204807SLC25A38c.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)
3g.39394450C>GCA352204809SLC25A38c.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)
3g.39394450C>TCA433164351SLC25A38c.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)
3g.39394451T>ACA352204826SLC25A38c.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)
3g.39394451T>CCA352204837SLC25A38c.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)
3g.39394451T>GCA352204839SLC25A38c.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)
3g.39394452G>ACA352204840SLC25A38c.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
3g.39394452G>CCA352204842SLC25A38c.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
3g.39394452G=CA1358939289SLC25A38c.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=)
3g.39394452G>TCA352204843SLC25A38c.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)
3g.39394453T>ACA352204850SLC25A38c.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)
3g.39394453T>CCA433164373SLC25A38c.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)
3g.39394453T>GCA352204846SLC25A38c.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)
3g.39394454G>ACA352204873SLC25A38c.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
3g.39394454G>CCA352204876SLC25A38c.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)
3g.39394454G>TCA352204885SLC25A38c.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)
3g.39394455G>ACA352204888SLC25A38c.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)
3g.39394455G>CCA352204891SLC25A38c.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
3g.39394455G=CA1358939290SLC25A38c.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=)
3g.39394455G>TCA352204894SLC25A38c.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)
3g.39394455_39394456insTCA915942371SLC25A38c.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
3g.39394456G>ACA433164393SLC25A38c.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)
3g.39394456G>CCA433164394SLC25A38c.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)
3g.39394456G>TCA433164395SLC25A38c.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)
3g.39394456delinsTTCA2499216773SLC25A38c.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
3g.39394457A>CCA352204900SLC25A38c.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)
3g.39394457A>GCA352204910SLC25A38c.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
3g.39394457A>TCA352204912SLC25A38c.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)
3g.39394458T>ACA352204917SLC25A38c.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)
3g.39394458T>CCA2327530SLC25A38c.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
3g.39394458T>GCA352204926SLC25A38c.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)
3g.39394458T=CA1358939291SLC25A38c.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=)
3g.39394459A>CCA433164410SLC25A38c.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)
3g.39394459A>GCA352204929SLC25A38c.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)
3g.39394459A>TCA433164413SLC25A38c.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)
3g.39394460T>ACA352204937SLC25A38c.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)
3g.39394460T>CCA352204942SLC25A38c.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)
3g.39394460T>GCA352204935SLC25A38c.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)
3g.39394461T>ACA352204947SLC25A38c.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)
3g.39394461T>CCA352204944SLC25A38c.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)
3g.39394461T>GCA352204945SLC25A38c.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)
3g.39394462T>ACA352204950SLC25A38c.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)
3g.39394462T>CCA433164431SLC25A38c.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)
3g.39394462T>GCA352204954SLC25A38c.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)
3g.39394463G>ACA2327531SLC25A38c.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
3g.39394463G>CCA352204961SLC25A38c.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)
3g.39394463G=CA1358939292SLC25A38c.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=)
3g.39394463G>TCA352204967SLC25A38c.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)
3g.39394464C>ACA352204968SLC25A38c.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)
3g.39394464C>GCA352204969SLC25A38c.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)
3g.39394464C>TCA352204970SLC25A38c.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
3g.39394465T>ACA433164445SLC25A38c.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)
3g.39394465T>CCA433164446SLC25A38c.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)
3g.39394465T>GCA433164447SLC25A38c.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)
3g.39394466G>ACA352204971SLC25A38c.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
3g.39394466G>CCA352204973SLC25A38c.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)
3g.39394466G=CA1358939293SLC25A38c.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=)
3g.39394466G>TCA352204976SLC25A38c.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)
3g.39394467G>ACA352204992SLC25A38c.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)
3g.39394467G>CCA352204981SLC25A38c.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)
3g.39394467G=CA1358939294SLC25A38c.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=)
3g.39394467G>TCA2327532SLC25A38c.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
3g.39394468T>ACA433164463SLC25A38c.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)
3g.39394468T>CCA433164466SLC25A38c.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
3g.39394468T>GCA433164467SLC25A38c.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)
3g.39394468T=CA1358939295SLC25A38c.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=)
3g.39394469A>CCA352204995SLC25A38c.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)
3g.39394469A>GCA352205002SLC25A38c.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
3g.39394469A>TCA352205006SLC25A38c.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)
3g.39394470T>ACA352205011SLC25A38c.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)
3g.39394470T>CCA352205013SLC25A38c.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)
3g.39394470T>GCA352205015SLC25A38c.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)
3g.39394471T>ACA433164484SLC25A38c.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)
3g.39394471T>CCA433164481SLC25A38c.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)
3g.39394471T>GCA352205017SLC25A38c.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)
3g.39394472C>ACA352205021SLC25A38c.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)
3g.39394472C=CA1358939296SLC25A38c.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=)
3g.39394472C>GCA352205025SLC25A38c.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)
3g.39394472C>TCA2327533SLC25A38c.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
3g.39394473T>ACA352205041SLC25A38c.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)
3g.39394473T>CCA352205044SLC25A38c.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
3g.39394473T>GCA352205047SLC25A38c.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)
3g.39394473_39394474delinsTGCA1358939297SLC25A38c.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)
3g.39394474G>ACA433164501SLC25A38c.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
3g.39394474G>CCA433164504SLC25A38c.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
3g.39394474G=CA1358939298SLC25A38c.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=)
3g.39394474G>TCA433164507SLC25A38c.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)
3g.39394475delCA542617040SLC25A38c.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
3g.39394475G>ACA352205052SLC25A38c.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)
3g.39394475G>CCA352205055SLC25A38c.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)
3g.39394475G>TCA352205049SLC25A38c.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)
3g.39394476C>ACA352205061SLC25A38c.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)
3g.39394476C>GCA352205062SLC25A38c.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)
3g.39394476C>TCA352205063SLC25A38c.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)
3g.39394477C>ACA433164521SLC25A38c.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)
3g.39394477C>GCA433164524SLC25A38c.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)
3g.39394477C>TCA433164527SLC25A38c.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)
3g.39394478T>ACA352205064SLC25A38c.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)
3g.39394478T>CCA352205065SLC25A38c.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)
3g.39394478T>GCA352205066SLC25A38c.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)
3g.39394479C>ACA352205070SLC25A38c.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)
3g.39394479C>GCA352205074SLC25A38c.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)
3g.39394479C>TCA352205078SLC25A38c.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)
3g.39394480A>CCA433164545SLC25A38c.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)
3g.39394480A>GCA433164546SLC25A38c.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)
3g.39394480A>TCA433164547SLC25A38c.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)
3g.39394481C>ACA352205093SLC25A38c.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)
3g.39394481C>GCA352205095SLC25A38c.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)
3g.39394481C>TCA433164551SLC25A38c.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
3g.39394482T>ACA352205103SLC25A38c.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)
3g.39394482T>CCA352205101SLC25A38c.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)
3g.39394482T>GCA352205099SLC25A38c.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)
3g.39394483G>ACA433164565SLC25A38c.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)
3g.39394483G>CCA433164567SLC25A38c.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)
3g.39394483G>TCA433164569SLC25A38c.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)
3g.39394484G>ACA352205105SLC25A38c.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)
3g.39394484G>CCA352205107SLC25A38c.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)
3g.39394484G>TCA352205111SLC25A38c.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)
3g.39394485T>ACA352205116SLC25A38c.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)
3g.39394485T>CCA352205120SLC25A38c.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)
3g.39394485T>GCA352205121SLC25A38c.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)
3g.39394486A=CA1358939299SLC25A38c.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=)
3g.39394486A>CCA433164586SLC25A38c.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)
3g.39394486A>GCA73040721SLC25A38c.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
3g.39394486A>TCA433164593SLC25A38c.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)
3g.39394487A>CCA352205122SLC25A38c.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)
3g.39394487A>GCA352205124SLC25A38c.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
3g.39394487A>TCA352205127SLC25A38c.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)
3g.39394488C>ACA352205130SLC25A38c.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)
3g.39394488C>GCA352205145SLC25A38c.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)
3g.39394488C>TCA352205147SLC25A38c.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)
3g.39394489T>ACA433164604SLC25A38c.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)
3g.39394489T>CCA433164607SLC25A38c.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)
3g.39394489T>GCA433164610SLC25A38c.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)
3g.39394490C>ACA352205152SLC25A38c.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)
3g.39394490C=CA1358939300SLC25A38c.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=)
3g.39394490C>GCA352205154SLC25A38c.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)
3g.39394490C>TCA2327534SLC25A38c.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
3g.39394491A>CCA352205157SLC25A38c.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)
3g.39394491A>GCA352205155SLC25A38c.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)
3g.39394491A>TCA352205156SLC25A38c.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)
3g.39394492A>CCA352205161SLC25A38c.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)
3g.39394492A>GCA433164633SLC25A38c.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)
3g.39394492A>TCA352205163SLC25A38c.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)
3g.39394493C>ACA352205167SLC25A38c.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
3g.39394493C=CA1358939301SLC25A38c.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=)
3g.39394493C>GCA352205176SLC25A38c.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)
3g.39394493C>TCA352205185SLC25A38c.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
3g.39394494C>ACA352205209SLC25A38c.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)
3g.39394494C>GCA352205211SLC25A38c.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)
3g.39394494C>TCA352205215SLC25A38c.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)
3g.39394495T>ACA433164659SLC25A38c.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
3g.39394495T>CCA433164652SLC25A38c.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)
3g.39394495T>GCA433164657SLC25A38c.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)
3g.39394496G>ACA352205221SLC25A38c.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
3g.39394496G>CCA352205222SLC25A38c.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)
3g.39394496G=CA1358939302SLC25A38c.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=)
3g.39394496G>TCA352205223SLC25A38c.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
3g.39394497C>ACA352205228SLC25A38c.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)
3g.39394497C=CA1358939303SLC25A38c.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=)
3g.39394497C>GCA352205224SLC25A38c.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)
3g.39394497C>TCA2327535SLC25A38c.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
3g.39394498G>ACA2327536SLC25A38c.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
3g.39394498G>CCA433164684SLC25A38c.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)
3g.39394498G=CA1358939304SLC25A38c.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=)
3g.39394498G>TCA433164682SLC25A38c.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
3g.39394499G>ACA352205236SLC25A38c.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)
3g.39394499G>CCA352205247SLC25A38c.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)
3g.39394499G>TCA352205250SLC25A38c.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)
3g.39394500A>CCA352205251SLC25A38c.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)
3g.39394500A>GCA352205252SLC25A38c.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)
3g.39394500A>TCA352205253SLC25A38c.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)
3g.39394501T>ACA352205254SLC25A38c.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)
3g.39394501T>CCA433164708SLC25A38c.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)
3g.39394501T>GCA352205258SLC25A38c.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)
3g.39394502G>ACA352205260SLC25A38c.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
3g.39394502G>CCA352205263SLC25A38c.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)
3g.39394502G=CA1358939305SLC25A38c.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=)
3g.39394502G>TCA352205264SLC25A38c.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)
3g.39394503T>ACA352205273SLC25A38c.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)
3g.39394503T>CCA352205277SLC25A38c.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)
3g.39394503T>GCA352205268SLC25A38c.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)
3g.39394504T>ACA433164730SLC25A38c.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)
3g.39394504T>CCA433164733SLC25A38c.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)
3g.39394504T>GCA433164736SLC25A38c.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)
3g.39394505A>CCA352205279SLC25A38c.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)
3g.39394505A>GCA352205280SLC25A38c.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)
3g.39394505A>TCA352205281SLC25A38c.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)
3g.39394506T>ACA352205284SLC25A38c.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
3g.39394506T>CCA2327537SLC25A38c.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
3g.39394506T>GCA352205288SLC25A38c.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)
3g.39394506T=CA1358939306SLC25A38c.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=)
3g.39394507C>ACA433164756SLC25A38c.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)
3g.39394507C>GCA352205293SLC25A38c.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)
3g.39394507C>TCA433164759SLC25A38c.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)
3g.39394508A>CCA352205306SLC25A38c.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
3g.39394508A>GCA352205312SLC25A38c.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)
3g.39394508A>TCA352205315SLC25A38c.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)
3g.39394509A=CA1358939307SLC25A38c.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=)
3g.39394509A>CCA352205317SLC25A38c.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)
3g.39394509A>GCA2327538SLC25A38c.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
3g.39394509A>TCA352205322SLC25A38c.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)
3g.39394510A=CA1358939308SLC25A38c.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=)
3g.39394510A>CCA352205330SLC25A38c.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)
3g.39394510A>GCA2327539SLC25A38c.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
3g.39394510A>TCA352205327SLC25A38c.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)
3g.39394511A>CCA352205333SLC25A38c.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)
3g.39394511A>GCA352205336SLC25A38c.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)
3g.39394511A>TCA352205341SLC25A38c.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)
3g.39394512C>ACA352205345SLC25A38c.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)
3g.39394512C=CA1358939309SLC25A38c.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=)
3g.39394512C>GCA352205347SLC25A38c.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)
3g.39394512C>TCA352205350SLC25A38c.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
3g.39394513T>ACA433164778SLC25A38c.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
3g.39394513T>CCA433164777SLC25A38c.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)
3g.39394513T>GCA433164775SLC25A38c.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)
3g.39394513T=CA1358939310SLC25A38c.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=)
3g.39394514C>ACA352205370SLC25A38c.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)
3g.39394514C=CA1358939311SLC25A38c.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=)
3g.39394514C>GCA352205353SLC25A38c.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)
3g.39394514C>TCA352205369SLC25A38c.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
3g.39394515A>CCA352205371SLC25A38c.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)
3g.39394515A>GCA352205375SLC25A38c.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)
3g.39394515A>TCA352205376SLC25A38c.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)
3g.39394517_39394518delCA2665162993SLC25A38c.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
3g.39394516T>ACA352205377SLC25A38c.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
3g.39394516T>CCA433164786SLC25A38c.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
3g.39394516T>GCA352205378SLC25A38c.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)
3g.39394516T=CA1358939312SLC25A38c.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=)
3g.39394517A>CCA352205379SLC25A38c.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)
3g.39394517A>GCA352205381SLC25A38c.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)
3g.39394517A>TCA352205380SLC25A38c.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)
3g.39394518T>ACA352205382SLC25A38c.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)
3g.39394518T>CCA352205385SLC25A38c.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
3g.39394518T>GCA352205384SLC25A38c.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
3g.39394518T=CA1358939313SLC25A38c.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=)
3g.39394519G>ACA352205388SLC25A38c.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)
3g.39394519G>CCA352205391SLC25A38c.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)
3g.39394519G=CA1358939314SLC25A38c.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=)
3g.39394519G>TCA352205389SLC25A38c.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
3g.39394520C>ACA352205392SLC25A38c.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
3g.39394520C>GCA352205395SLC25A38c.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)
3g.39394520C>TCA352205393SLC25A38c.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)
3g.39394521A>CCA352205398SLC25A38c.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)
3g.39394521A>GCA352205406SLC25A38c.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)
3g.39394521A>TCA352205411SLC25A38c.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)
3g.39394522G>ACA433164805SLC25A38c.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)
3g.39394522G>CCA352205413SLC25A38c.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)
3g.39394522G>TCA352205414SLC25A38c.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)
3g.39394523C>ACA352205417SLC25A38c.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)
3g.39394523C=CA1358939315SLC25A38c.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=)
3g.39394523C>GCA352205416SLC25A38c.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)
3g.39394523C>TCA352205415SLC25A38c.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
3g.39394524T>ACA352205419SLC25A38c.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)
3g.39394524T>CCA352205422SLC25A38c.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)
3g.39394524T>GCA352205427SLC25A38c.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)
3g.39394525T>ACA433164813SLC25A38c.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)
3g.39394525T>CCA433164815SLC25A38c.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)
3g.39394525T>GCA433164816SLC25A38c.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)
3g.39394526T>ACA352205432SLC25A38c.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)
3g.39394526T>CCA352205433SLC25A38c.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)
3g.39394526T>GCA352205434SLC25A38c.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)
3g.39394527A>CCA352205435SLC25A38c.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
3g.39394527A>GCA352205437SLC25A38c.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)
3g.39394527A>TCA352205436SLC25A38c.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
3g.39394528T>ACA352205439SLC25A38c.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)
3g.39394528T>CCA2327540SLC25A38c.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
3g.39394528T>GCA352205447SLC25A38c.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
3g.39394528T=CA1358939316SLC25A38c.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=)
3g.39394529C>ACA352205452SLC25A38c.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)
3g.39394529C>GCA352205455SLC25A38c.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)
3g.39394529C>TCA352205460SLC25A38c.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)

Number of alleles fetched