Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.39394360T>CCA2327513SLC25A38c.578-50T>C (n.578-50T>C)
c.575-50T>C (n.575-50T>C)
c.572-50T>C (n.572-50T>C)
c.446-50T>C (n.446-50T>C)
c.722-90T>C (n.722-90T>C)
c.626-50T>C (n.626-50T>C)
c.614-50T>C (n.614-50T>C)
c.608-50T>C (n.608-50T>C)
c.626-2038T>C (n.626-2038T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394360T=CA1358939249SLC25A38c.578-50T= (n.578-50T=)
c.575-50T= (n.575-50T=)
c.572-50T= (n.572-50T=)
c.446-50T= (n.446-50T=)
c.722-90T= (n.722-90T=)
c.626-50T= (n.626-50T=)
c.614-50T= (n.614-50T=)
c.608-50T= (n.608-50T=)
c.626-2038T= (n.626-2038T=)
3g.39394361C>GCA2665162843SLC25A38c.578-49C>G (n.578-49C>G)
c.575-49C>G (n.575-49C>G)
c.572-49C>G (n.572-49C>G)
c.446-49C>G (n.446-49C>G)
c.722-89C>G (n.722-89C>G)
c.626-49C>G (n.626-49C>G)
c.614-49C>G (n.614-49C>G)
c.608-49C>G (n.608-49C>G)
c.626-2037C>G (n.626-2037C>G)
 gnomAD v4
3g.39394363G>CCA2327514SLC25A38c.578-47G>C (n.578-47G>C)
c.575-47G>C (n.575-47G>C)
c.572-47G>C (n.572-47G>C)
c.446-47G>C (n.446-47G>C)
c.722-87G>C (n.722-87G>C)
c.626-47G>C (n.626-47G>C)
c.614-47G>C (n.614-47G>C)
c.608-47G>C (n.608-47G>C)
c.626-2035G>C (n.626-2035G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394363G=CA1358939250SLC25A38c.578-47G= (n.578-47G=)
c.575-47G= (n.575-47G=)
c.572-47G= (n.572-47G=)
c.446-47G= (n.446-47G=)
c.722-87G= (n.722-87G=)
c.626-47G= (n.626-47G=)
c.614-47G= (n.614-47G=)
c.608-47G= (n.608-47G=)
c.626-2035G= (n.626-2035G=)
3g.39394363G>TCA2570708473SLC25A38c.578-47G>T (n.578-47G>T)
c.575-47G>T (n.575-47G>T)
c.572-47G>T (n.572-47G>T)
c.446-47G>T (n.446-47G>T)
c.722-87G>T (n.722-87G>T)
c.626-47G>T (n.626-47G>T)
c.614-47G>T (n.614-47G>T)
c.608-47G>T (n.608-47G>T)
c.626-2035G>T (n.626-2035G>T)
3g.39394364A=CA1358939251SLC25A38c.578-46A= (n.578-46A=)
c.575-46A= (n.575-46A=)
c.572-46A= (n.572-46A=)
c.446-46A= (n.446-46A=)
c.722-86A= (n.722-86A=)
c.626-46A= (n.626-46A=)
c.614-46A= (n.614-46A=)
c.608-46A= (n.608-46A=)
c.626-2034A= (n.626-2034A=)
3g.39394364A>TCA542616973SLC25A38c.578-46A>T (n.578-46A>T)
c.575-46A>T (n.575-46A>T)
c.572-46A>T (n.572-46A>T)
c.446-46A>T (n.446-46A>T)
c.722-86A>T (n.722-86A>T)
c.626-46A>T (n.626-46A>T)
c.614-46A>T (n.614-46A>T)
c.608-46A>T (n.608-46A>T)
c.626-2034A>T (n.626-2034A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.39394365T>CCA2665162851SLC25A38c.578-45T>C (n.578-45T>C)
c.575-45T>C (n.575-45T>C)
c.572-45T>C (n.572-45T>C)
c.446-45T>C (n.446-45T>C)
c.722-85T>C (n.722-85T>C)
c.626-45T>C (n.626-45T>C)
c.614-45T>C (n.614-45T>C)
c.608-45T>C (n.608-45T>C)
c.626-2033T>C (n.626-2033T>C)
 gnomAD v4
3g.39394365T>GCA2665162853SLC25A38c.578-45T>G (n.578-45T>G)
c.575-45T>G (n.575-45T>G)
c.572-45T>G (n.572-45T>G)
c.446-45T>G (n.446-45T>G)
c.722-85T>G (n.722-85T>G)
c.626-45T>G (n.626-45T>G)
c.614-45T>G (n.614-45T>G)
c.608-45T>G (n.608-45T>G)
c.626-2033T>G (n.626-2033T>G)
 gnomAD v4
3g.39394366T>CCA1358939253SLC25A38c.578-44T>C (n.578-44T>C)
c.575-44T>C (n.575-44T>C)
c.572-44T>C (n.572-44T>C)
c.446-44T>C (n.446-44T>C)
c.722-84T>C (n.722-84T>C)
c.626-44T>C (n.626-44T>C)
c.614-44T>C (n.614-44T>C)
c.608-44T>C (n.608-44T>C)
c.626-2032T>C (n.626-2032T>C)
 dbSNP
3g.39394366T>GCA2327515SLC25A38c.578-44T>G (n.578-44T>G)
c.575-44T>G (n.575-44T>G)
c.572-44T>G (n.572-44T>G)
c.446-44T>G (n.446-44T>G)
c.722-84T>G (n.722-84T>G)
c.626-44T>G (n.626-44T>G)
c.614-44T>G (n.614-44T>G)
c.608-44T>G (n.608-44T>G)
c.626-2032T>G (n.626-2032T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394366T=CA1358939252SLC25A38c.578-44T= (n.578-44T=)
c.575-44T= (n.575-44T=)
c.572-44T= (n.572-44T=)
c.446-44T= (n.446-44T=)
c.722-84T= (n.722-84T=)
c.626-44T= (n.626-44T=)
c.614-44T= (n.614-44T=)
c.608-44T= (n.608-44T=)
c.626-2032T= (n.626-2032T=)
3g.39394367A>GCA2577557388SLC25A38c.578-43A>G (n.578-43A>G)
c.575-43A>G (n.575-43A>G)
c.572-43A>G (n.572-43A>G)
c.446-43A>G (n.446-43A>G)
c.722-83A>G (n.722-83A>G)
c.626-43A>G (n.626-43A>G)
c.614-43A>G (n.614-43A>G)
c.608-43A>G (n.608-43A>G)
c.626-2031A>G (n.626-2031A>G)
3g.39394368A>CCA2577557389SLC25A38c.578-42A>C (n.578-42A>C)
c.575-42A>C (n.575-42A>C)
c.572-42A>C (n.572-42A>C)
c.446-42A>C (n.446-42A>C)
c.722-82A>C (n.722-82A>C)
c.626-42A>C (n.626-42A>C)
c.614-42A>C (n.614-42A>C)
c.608-42A>C (n.608-42A>C)
c.626-2030A>C (n.626-2030A>C)
3g.39394370A>GCA2577557390SLC25A38c.578-40A>G (n.578-40A>G)
c.575-40A>G (n.575-40A>G)
c.572-40A>G (n.572-40A>G)
c.446-40A>G (n.446-40A>G)
c.722-80A>G (n.722-80A>G)
c.626-40A>G (n.626-40A>G)
c.614-40A>G (n.614-40A>G)
c.608-40A>G (n.608-40A>G)
c.626-2028A>G (n.626-2028A>G)
 gnomAD v4
3g.39394374G>ACA1358939254SLC25A38c.578-36G>A (n.578-36G>A)
c.575-36G>A (n.575-36G>A)
c.572-36G>A (n.572-36G>A)
c.446-36G>A (n.446-36G>A)
c.722-76G>A (n.722-76G>A)
c.626-36G>A (n.626-36G>A)
c.614-36G>A (n.614-36G>A)
c.608-36G>A (n.608-36G>A)
c.626-2024G>A (n.626-2024G>A)
 dbSNP gnomAD v4
3g.39394374G>CCA2327516SLC25A38c.578-36G>C (n.578-36G>C)
c.575-36G>C (n.575-36G>C)
c.572-36G>C (n.572-36G>C)
c.446-36G>C (n.446-36G>C)
c.722-76G>C (n.722-76G>C)
c.626-36G>C (n.626-36G>C)
c.614-36G>C (n.614-36G>C)
c.608-36G>C (n.608-36G>C)
c.626-2024G>C (n.626-2024G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.39394374G=CA1358939255SLC25A38c.578-36G= (n.578-36G=)
c.575-36G= (n.575-36G=)
c.572-36G= (n.572-36G=)
c.446-36G= (n.446-36G=)
c.722-76G= (n.722-76G=)
c.626-36G= (n.626-36G=)
c.614-36G= (n.614-36G=)
c.608-36G= (n.608-36G=)
c.626-2024G= (n.626-2024G=)
3g.39394374G>TCA2327517SLC25A38c.578-36G>T (n.578-36G>T)
c.575-36G>T (n.575-36G>T)
c.572-36G>T (n.572-36G>T)
c.446-36G>T (n.446-36G>T)
c.722-76G>T (n.722-76G>T)
c.626-36G>T (n.626-36G>T)
c.614-36G>T (n.614-36G>T)
c.608-36G>T (n.608-36G>T)
c.626-2024G>T (n.626-2024G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394375A=CA1358939256SLC25A38c.578-35A= (n.578-35A=)
c.575-35A= (n.575-35A=)
c.572-35A= (n.572-35A=)
c.446-35A= (n.446-35A=)
c.722-75A= (n.722-75A=)
c.626-35A= (n.626-35A=)
c.614-35A= (n.614-35A=)
c.608-35A= (n.608-35A=)
c.626-2023A= (n.626-2023A=)
3g.39394375A>GCA906960878SLC25A38c.578-35A>G (n.578-35A>G)
c.575-35A>G (n.575-35A>G)
c.572-35A>G (n.572-35A>G)
c.446-35A>G (n.446-35A>G)
c.722-75A>G (n.722-75A>G)
c.626-35A>G (n.626-35A>G)
c.614-35A>G (n.614-35A>G)
c.608-35A>G (n.608-35A>G)
c.626-2023A>G (n.626-2023A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.39394375A>TCA2665162865SLC25A38c.578-35A>T (n.578-35A>T)
c.575-35A>T (n.575-35A>T)
c.572-35A>T (n.572-35A>T)
c.446-35A>T (n.446-35A>T)
c.722-75A>T (n.722-75A>T)
c.626-35A>T (n.626-35A>T)
c.614-35A>T (n.614-35A>T)
c.608-35A>T (n.608-35A>T)
c.626-2023A>T (n.626-2023A>T)
 gnomAD v4
3g.39394377C>ACA542616974SLC25A38c.578-33C>A (n.578-33C>A)
c.575-33C>A (n.575-33C>A)
c.572-33C>A (n.572-33C>A)
c.446-33C>A (n.446-33C>A)
c.722-73C>A (n.722-73C>A)
c.626-33C>A (n.626-33C>A)
c.614-33C>A (n.614-33C>A)
c.608-33C>A (n.608-33C>A)
c.626-2021C>A (n.626-2021C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.39394377C=CA1358939257SLC25A38c.578-33C= (n.578-33C=)
c.575-33C= (n.575-33C=)
c.572-33C= (n.572-33C=)
c.446-33C= (n.446-33C=)
c.722-73C= (n.722-73C=)
c.626-33C= (n.626-33C=)
c.614-33C= (n.614-33C=)
c.608-33C= (n.608-33C=)
c.626-2021C= (n.626-2021C=)
3g.39394379A=CA1358939258SLC25A38c.578-31A= (n.578-31A=)
c.575-31A= (n.575-31A=)
c.572-31A= (n.572-31A=)
c.446-31A= (n.446-31A=)
c.722-71A= (n.722-71A=)
c.626-31A= (n.626-31A=)
c.614-31A= (n.614-31A=)
c.608-31A= (n.608-31A=)
c.626-2019A= (n.626-2019A=)
3g.39394379A>GCA906960884SLC25A38c.578-31A>G (n.578-31A>G)
c.575-31A>G (n.575-31A>G)
c.572-31A>G (n.572-31A>G)
c.446-31A>G (n.446-31A>G)
c.722-71A>G (n.722-71A>G)
c.626-31A>G (n.626-31A>G)
c.614-31A>G (n.614-31A>G)
c.608-31A>G (n.608-31A>G)
c.626-2019A>G (n.626-2019A>G)
 dbSNP gnomAD v4
3g.39394380T>GCA2577557391SLC25A38c.578-30T>G (n.578-30T>G)
c.575-30T>G (n.575-30T>G)
c.572-30T>G (n.572-30T>G)
c.446-30T>G (n.446-30T>G)
c.722-70T>G (n.722-70T>G)
c.626-30T>G (n.626-30T>G)
c.614-30T>G (n.614-30T>G)
c.608-30T>G (n.608-30T>G)
c.626-2018T>G (n.626-2018T>G)
3g.39394381G>ACA2702444791SLC25A38c.578-29G>A (n.578-29G>A)
c.575-29G>A (n.575-29G>A)
c.572-29G>A (n.572-29G>A)
c.446-29G>A (n.446-29G>A)
c.722-69G>A (n.722-69G>A)
c.626-29G>A (n.626-29G>A)
c.614-29G>A (n.614-29G>A)
c.608-29G>A (n.608-29G>A)
c.626-2017G>A (n.626-2017G>A)
 dbSNP
3g.39394382T>CCA2327518SLC25A38c.578-28T>C (n.578-28T>C)
c.575-28T>C (n.575-28T>C)
c.572-28T>C (n.572-28T>C)
c.446-28T>C (n.446-28T>C)
c.722-68T>C (n.722-68T>C)
c.626-28T>C (n.626-28T>C)
c.614-28T>C (n.614-28T>C)
c.608-28T>C (n.608-28T>C)
c.626-2016T>C (n.626-2016T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394382T=CA1358939259SLC25A38c.578-28T= (n.578-28T=)
c.575-28T= (n.575-28T=)
c.572-28T= (n.572-28T=)
c.446-28T= (n.446-28T=)
c.722-68T= (n.722-68T=)
c.626-28T= (n.626-28T=)
c.614-28T= (n.614-28T=)
c.608-28T= (n.608-28T=)
c.626-2016T= (n.626-2016T=)
3g.39394383C=CA1358939261SLC25A38c.578-27C= (n.578-27C=)
c.575-27C= (n.575-27C=)
c.572-27C= (n.572-27C=)
c.446-27C= (n.446-27C=)
c.722-67C= (n.722-67C=)
c.626-27C= (n.626-27C=)
c.614-27C= (n.614-27C=)
c.608-27C= (n.608-27C=)
c.626-2015C= (n.626-2015C=)
3g.39394383C>TCA1358939260SLC25A38c.578-27C>T (n.578-27C>T)
c.575-27C>T (n.575-27C>T)
c.572-27C>T (n.572-27C>T)
c.446-27C>T (n.446-27C>T)
c.722-67C>T (n.722-67C>T)
c.626-27C>T (n.626-27C>T)
c.614-27C>T (n.614-27C>T)
c.608-27C>T (n.608-27C>T)
c.626-2015C>T (n.626-2015C>T)
 dbSNP
3g.39394386C>TCA2702444793SLC25A38c.578-24C>T (n.578-24C>T)
c.575-24C>T (n.575-24C>T)
c.572-24C>T (n.572-24C>T)
c.446-24C>T (n.446-24C>T)
c.722-64C>T (n.722-64C>T)
c.626-24C>T (n.626-24C>T)
c.614-24C>T (n.614-24C>T)
c.608-24C>T (n.608-24C>T)
c.626-2012C>T (n.626-2012C>T)
 dbSNP
3g.39394386_39394388delinsCATCA1358939262SLC25A38c.578-24_578-22delinsCAT (n.578-24_578-22delinsCAT)
c.575-24_575-22delinsCAT (n.575-24_575-22delinsCAT)
c.572-24_572-22delinsCAT (n.572-24_572-22delinsCAT)
c.446-24_446-22delinsCAT (n.446-24_446-22delinsCAT)
c.722-64_722-62delinsCAT (n.722-64_722-62delinsCAT)
c.626-24_626-22delinsCAT (n.626-24_626-22delinsCAT)
c.614-24_614-22delinsCAT (n.614-24_614-22delinsCAT)
c.608-24_608-22delinsCAT (n.608-24_608-22delinsCAT)
c.626-2012_626-2010delinsCAT (n.626-2012_626-2010delinsCAT)
3g.39394387A>CCA2755919915SLC25A38c.578-23A>C (n.578-23A>C)
c.575-23A>C (n.575-23A>C)
c.572-23A>C (n.572-23A>C)
c.446-23A>C (n.446-23A>C)
c.722-63A>C (n.722-63A>C)
c.626-23A>C (n.626-23A>C)
c.614-23A>C (n.614-23A>C)
c.608-23A>C (n.608-23A>C)
c.626-2011A>C (n.626-2011A>C)
3g.39394387A>GCA2665162880SLC25A38c.578-23A>G (n.578-23A>G)
c.575-23A>G (n.575-23A>G)
c.572-23A>G (n.572-23A>G)
c.446-23A>G (n.446-23A>G)
c.722-63A>G (n.722-63A>G)
c.626-23A>G (n.626-23A>G)
c.614-23A>G (n.614-23A>G)
c.608-23A>G (n.608-23A>G)
c.626-2011A>G (n.626-2011A>G)
 gnomAD v4
3g.39394387_39394388delCA2327519SLC25A38c.578-23_578-22del (n.578-23_578-22del)
c.575-23_575-22del (n.575-23_575-22del)
c.572-23_572-22del (n.572-23_572-22del)
c.446-23_446-22del (n.446-23_446-22del)
c.722-63_722-62del (n.722-63_722-62del)
c.626-23_626-22del (n.626-23_626-22del)
c.614-23_614-22del (n.614-23_614-22del)
c.608-23_608-22del (n.608-23_608-22del)
c.626-2011_626-2010del (n.626-2011_626-2010del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.39394388T>CCA2327520SLC25A38c.578-22T>C (n.578-22T>C)
c.575-22T>C (n.575-22T>C)
c.572-22T>C (n.572-22T>C)
c.446-22T>C (n.446-22T>C)
c.722-62T>C (n.722-62T>C)
c.626-22T>C (n.626-22T>C)
c.614-22T>C (n.614-22T>C)
c.608-22T>C (n.608-22T>C)
c.626-2010T>C (n.626-2010T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394388T=CA1358939263SLC25A38c.578-22T= (n.578-22T=)
c.575-22T= (n.575-22T=)
c.572-22T= (n.572-22T=)
c.446-22T= (n.446-22T=)
c.722-62T= (n.722-62T=)
c.626-22T= (n.626-22T=)
c.614-22T= (n.614-22T=)
c.608-22T= (n.608-22T=)
c.626-2010T= (n.626-2010T=)
3g.39394389_39394390delCA352204323SLC25A38c.578-21_578-20del (n.578-21_578-20del)
c.575-21_575-20del (n.575-21_575-20del)
c.572-21_572-20del (n.572-21_572-20del)
c.446-21_446-20del (n.446-21_446-20del)
c.722-61_722-60del (n.722-61_722-60del)
c.626-21_626-20del (n.626-21_626-20del)
c.614-21_614-20del (n.614-21_614-20del)
c.608-21_608-20del (n.608-21_608-20del)
c.626-2009_626-2008del (n.626-2009_626-2008del)
3g.39394390T>CCA2665162883SLC25A38c.578-20T>C (n.578-20T>C)
c.575-20T>C (n.575-20T>C)
c.572-20T>C (n.572-20T>C)
c.446-20T>C (n.446-20T>C)
c.722-60T>C (n.722-60T>C)
c.626-20T>C (n.626-20T>C)
c.614-20T>C (n.614-20T>C)
c.608-20T>C (n.608-20T>C)
c.626-2008T>C (n.626-2008T>C)
 gnomAD v4
3g.39394390T>GCA2327521SLC25A38c.578-20T>G (n.578-20T>G)
c.575-20T>G (n.575-20T>G)
c.572-20T>G (n.572-20T>G)
c.446-20T>G (n.446-20T>G)
c.722-60T>G (n.722-60T>G)
c.626-20T>G (n.626-20T>G)
c.614-20T>G (n.614-20T>G)
c.608-20T>G (n.608-20T>G)
c.626-2008T>G (n.626-2008T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.39394390T=CA1358939264SLC25A38c.578-20T= (n.578-20T=)
c.575-20T= (n.575-20T=)
c.572-20T= (n.572-20T=)
c.446-20T= (n.446-20T=)
c.722-60T= (n.722-60T=)
c.626-20T= (n.626-20T=)
c.614-20T= (n.614-20T=)
c.608-20T= (n.608-20T=)
c.626-2008T= (n.626-2008T=)
3g.39394393C=CA1358939265SLC25A38c.578-17C= (n.578-17C=)
c.575-17C= (n.575-17C=)
c.572-17C= (n.572-17C=)
c.446-17C= (n.446-17C=)
c.722-57C= (n.722-57C=)
c.626-17C= (n.626-17C=)
c.614-17C= (n.614-17C=)
c.608-17C= (n.608-17C=)
c.626-2005C= (n.626-2005C=)
3g.39394393C>GCA1358939266SLC25A38c.578-17C>G (n.578-17C>G)
c.575-17C>G (n.575-17C>G)
c.572-17C>G (n.572-17C>G)
c.446-17C>G (n.446-17C>G)
c.722-57C>G (n.722-57C>G)
c.626-17C>G (n.626-17C>G)
c.614-17C>G (n.614-17C>G)
c.608-17C>G (n.608-17C>G)
c.626-2005C>G (n.626-2005C>G)
 dbSNP
3g.39394393C>TCA542616975SLC25A38c.578-17C>T (n.578-17C>T)
c.575-17C>T (n.575-17C>T)
c.572-17C>T (n.572-17C>T)
c.446-17C>T (n.446-17C>T)
c.722-57C>T (n.722-57C>T)
c.626-17C>T (n.626-17C>T)
c.614-17C>T (n.614-17C>T)
c.608-17C>T (n.608-17C>T)
c.626-2005C>T (n.626-2005C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.39394394C>ACA2665162884SLC25A38c.578-16C>A (n.578-16C>A)
c.575-16C>A (n.575-16C>A)
c.572-16C>A (n.572-16C>A)
c.446-16C>A (n.446-16C>A)
c.722-56C>A (n.722-56C>A)
c.626-16C>A (n.626-16C>A)
c.614-16C>A (n.614-16C>A)
c.608-16C>A (n.608-16C>A)
c.626-2004C>A (n.626-2004C>A)
 gnomAD v4
3g.39394401C>TCA2665162887SLC25A38c.578-9C>T (n.578-9C>T)
c.575-9C>T (n.575-9C>T)
c.572-9C>T (n.572-9C>T)
c.446-9C>T (n.446-9C>T)
c.722-49C>T (n.722-49C>T)
c.626-9C>T (n.626-9C>T)
c.614-9C>T (n.614-9C>T)
c.608-9C>T (n.608-9C>T)
c.626-1997C>T (n.626-1997C>T)
 gnomAD v4
3g.39394403A=CA1358939267SLC25A38c.578-7A= (n.578-7A=)
c.575-7A= (n.575-7A=)
c.572-7A= (n.572-7A=)
c.446-7A= (n.446-7A=)
c.722-47A= (n.722-47A=)
c.626-7A= (n.626-7A=)
c.614-7A= (n.614-7A=)
c.608-7A= (n.608-7A=)
c.626-1995A= (n.626-1995A=)
3g.39394403A>GCA2327522SLC25A38c.578-7A>G (n.578-7A>G)
c.575-7A>G (n.575-7A>G)
c.572-7A>G (n.572-7A>G)
c.446-7A>G (n.446-7A>G)
c.722-47A>G (n.722-47A>G)
c.626-7A>G (n.626-7A>G)
c.614-7A>G (n.614-7A>G)
c.608-7A>G (n.608-7A>G)
c.626-1995A>G (n.626-1995A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.39394404T>CCA2577557392SLC25A38c.578-6T>C (n.578-6T>C)
c.575-6T>C (n.575-6T>C)
c.572-6T>C (n.572-6T>C)
c.446-6T>C (n.446-6T>C)
c.722-46T>C (n.722-46T>C)
c.626-6T>C (n.626-6T>C)
c.614-6T>C (n.614-6T>C)
c.608-6T>C (n.608-6T>C)
c.626-1994T>C (n.626-1994T>C)
 gnomAD v4
3g.39394406dupCA2665162894SLC25A38c.578-4dup (n.578-4dup)
c.575-4dup (n.575-4dup)
c.572-4dup (n.572-4dup)
c.446-4dup (n.446-4dup)
c.722-44dup (n.722-44dup)
c.626-4dup (n.626-4dup)
c.614-4dup (n.614-4dup)
c.608-4dup (n.608-4dup)
c.626-1992dup (n.626-1992dup)
 gnomAD v4
3g.39394405T>CCA2327523SLC25A38c.578-5T>C (n.578-5T>C)
c.575-5T>C (n.575-5T>C)
c.572-5T>C (n.572-5T>C)
c.446-5T>C (n.446-5T>C)
c.722-45T>C (n.722-45T>C)
c.626-5T>C (n.626-5T>C)
c.614-5T>C (n.614-5T>C)
c.608-5T>C (n.608-5T>C)
c.626-1993T>C (n.626-1993T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394405T=CA1358939268SLC25A38c.578-5T= (n.578-5T=)
c.575-5T= (n.575-5T=)
c.572-5T= (n.572-5T=)
c.446-5T= (n.446-5T=)
c.722-45T= (n.722-45T=)
c.626-5T= (n.626-5T=)
c.614-5T= (n.614-5T=)
c.608-5T= (n.608-5T=)
c.626-1993T= (n.626-1993T=)
3g.39394407C>TCA2665162901SLC25A38c.578-3C>T (n.578-3C>T)
c.575-3C>T (n.575-3C>T)
c.572-3C>T (n.572-3C>T)
c.446-3C>T (n.446-3C>T)
c.722-43C>T (n.722-43C>T)
c.626-3C>T (n.626-3C>T)
c.614-3C>T (n.614-3C>T)
c.608-3C>T (n.608-3C>T)
c.626-1991C>T (n.626-1991C>T)
 gnomAD v4
3g.39394408A>CCA352204337SLC25A38c.578-2A>C (n.578-2A>C)
c.575-2A>C (n.575-2A>C)
c.572-2A>C (n.572-2A>C)
c.446-2A>C (n.446-2A>C)
c.722-42A>C (n.722-42A>C)
c.626-2A>C (n.626-2A>C)
c.614-2A>C (n.614-2A>C)
c.608-2A>C (n.608-2A>C)
c.626-1990A>C (n.626-1990A>C)
3g.39394408A>GCA352204335SLC25A38c.578-2A>G (n.578-2A>G)
c.575-2A>G (n.575-2A>G)
c.572-2A>G (n.572-2A>G)
c.446-2A>G (n.446-2A>G)
c.722-42A>G (n.722-42A>G)
c.626-2A>G (n.626-2A>G)
c.614-2A>G (n.614-2A>G)
c.608-2A>G (n.608-2A>G)
c.626-1990A>G (n.626-1990A>G)
 gnomAD v4
3g.39394408A>TCA352204340SLC25A38c.578-2A>T (n.578-2A>T)
c.575-2A>T (n.575-2A>T)
c.572-2A>T (n.572-2A>T)
c.446-2A>T (n.446-2A>T)
c.722-42A>T (n.722-42A>T)
c.626-2A>T (n.626-2A>T)
c.614-2A>T (n.614-2A>T)
c.608-2A>T (n.608-2A>T)
c.626-1990A>T (n.626-1990A>T)
 ClinVar dbSNP
3g.39394409G>ACA352204349SLC25A38c.578-1G>A (n.578-1G>A)
c.575-1G>A (n.575-1G>A)
c.572-1G>A (n.572-1G>A)
c.446-1G>A (n.446-1G>A)
c.722-41G>A (n.722-41G>A)
c.626-1G>A (n.626-1G>A)
c.614-1G>A (n.614-1G>A)
c.608-1G>A (n.608-1G>A)
c.626-1989G>A (n.626-1989G>A)
3g.39394409G>CCA352204355SLC25A38c.578-1G>C (n.578-1G>C)
c.575-1G>C (n.575-1G>C)
c.572-1G>C (n.572-1G>C)
c.446-1G>C (n.446-1G>C)
c.722-41G>C (n.722-41G>C)
c.626-1G>C (n.626-1G>C)
c.614-1G>C (n.614-1G>C)
c.608-1G>C (n.608-1G>C)
c.626-1989G>C (n.626-1989G>C)
3g.39394409G>TCA352204357SLC25A38c.578-1G>T (n.578-1G>T)
c.575-1G>T (n.575-1G>T)
c.572-1G>T (n.572-1G>T)
c.446-1G>T (n.446-1G>T)
c.722-41G>T (n.722-41G>T)
c.626-1G>T (n.626-1G>T)
c.614-1G>T (n.614-1G>T)
c.608-1G>T (n.608-1G>T)
c.626-1989G>T (n.626-1989G>T)
3g.39394410A>CCA352204359SLC25A38c.578A>C (p.Asp193Ala)
c.575A>C (p.Asp192Ala)
c.572A>C (p.Asp191Ala)
c.446A>C (p.Asp149Ala)
c.722-40A>C (n.722-40A>C)
c.626A>C (p.Asp209Ala)
c.614A>C (p.Asp205Ala)
c.608A>C (p.Asp203Ala)
c.626-1988A>C (n.626-1988A>C)
3g.39394410A>GCA352204364SLC25A38c.578A>G (p.Asp193Gly)
c.575A>G (p.Asp192Gly)
c.572A>G (p.Asp191Gly)
c.446A>G (p.Asp149Gly)
c.722-40A>G (n.722-40A>G)
c.626A>G (p.Asp209Gly)
c.614A>G (p.Asp205Gly)
c.608A>G (p.Asp203Gly)
c.626-1988A>G (n.626-1988A>G)
 gnomAD v4
3g.39394410A>TCA352204367SLC25A38c.578A>T (p.Asp193Val)
c.575A>T (p.Asp192Val)
c.572A>T (p.Asp191Val)
c.446A>T (p.Asp149Val)
c.722-40A>T (n.722-40A>T)
c.626A>T (p.Asp209Val)
c.614A>T (p.Asp205Val)
c.608A>T (p.Asp203Val)
c.626-1988A>T (n.626-1988A>T)
3g.39394411C>ACA352204371SLC25A38c.579C>A (p.Asp193Glu)
c.576C>A (p.Asp192Glu)
c.573C>A (p.Asp191Glu)
c.447C>A (p.Asp149Glu)
c.722-39C>A (n.722-39C>A)
c.627C>A (p.Asp209Glu)
c.615C>A (p.Asp205Glu)
c.609C>A (p.Asp203Glu)
c.626-1987C>A (n.626-1987C>A)
 gnomAD v4
3g.39394411C>GCA352204373SLC25A38c.579C>G (p.Asp193Glu)
c.576C>G (p.Asp192Glu)
c.573C>G (p.Asp191Glu)
c.447C>G (p.Asp149Glu)
c.722-39C>G (n.722-39C>G)
c.627C>G (p.Asp209Glu)
c.615C>G (p.Asp205Glu)
c.609C>G (p.Asp203Glu)
c.626-1987C>G (n.626-1987C>G)
3g.39394411C>TCA433164040SLC25A38c.579C>T (p.Asp193=)
c.576C>T (p.Asp192=)
c.573C>T (p.Asp191=)
c.447C>T (p.Asp149=)
c.722-39C>T (n.722-39C>T)
c.627C>T (p.Asp209=)
c.615C>T (p.Asp205=)
c.609C>T (p.Asp203=)
c.626-1987C>T (n.626-1987C>T)
 gnomAD v4
3g.39394412delCA2560898864SLC25A38c.580del (p.Gln194ArgfsTer25)
c.577del (p.Gln193ArgfsTer25)
c.574del (p.Gln192ArgfsTer25)
c.448del (p.Gln150ArgfsTer?)
c.722-38del (n.722-38del)
c.628del (p.Gln210ArgfsTer25)
c.616del (p.Gln206ArgfsTer25)
c.610del (p.Gln204ArgfsTer25)
c.448del (p.Gln150ArgfsTer25)
c.626-1986del (n.626-1986del)
3g.39394412C>ACA352204384SLC25A38c.580C>A (p.Gln194Lys)
c.577C>A (p.Gln193Lys)
c.574C>A (p.Gln192Lys)
c.448C>A (p.Gln150Lys)
c.722-38C>A (n.722-38C>A)
c.628C>A (p.Gln210Lys)
c.616C>A (p.Gln206Lys)
c.610C>A (p.Gln204Lys)
c.626-1986C>A (n.626-1986C>A)
3g.39394412C=CA1358939269SLC25A38c.580C= (p.Gln194=)
c.577C= (p.Gln193=)
c.574C= (p.Gln192=)
c.448C= (p.Gln150=)
c.722-38C= (n.722-38C=)
c.628C= (p.Gln210=)
c.616C= (p.Gln206=)
c.610C= (p.Gln204=)
c.626-1986C= (n.626-1986C=)
3g.39394412C>GCA352204387SLC25A38c.580C>G (p.Gln194Glu)
c.577C>G (p.Gln193Glu)
c.574C>G (p.Gln192Glu)
c.448C>G (p.Gln150Glu)
c.722-38C>G (n.722-38C>G)
c.628C>G (p.Gln210Glu)
c.616C>G (p.Gln206Glu)
c.610C>G (p.Gln204Glu)
c.626-1986C>G (n.626-1986C>G)
 dbSNP
3g.39394412C>TCA352204393SLC25A38c.580C>T (p.Gln194Ter)
c.577C>T (p.Gln193Ter)
c.574C>T (p.Gln192Ter)
c.448C>T (p.Gln150Ter)
c.722-38C>T (n.722-38C>T)
c.628C>T (p.Gln210Ter)
c.616C>T (p.Gln206Ter)
c.610C>T (p.Gln204Ter)
c.626-1986C>T (n.626-1986C>T)
 gnomAD v4
3g.39394413A=CA1358939270SLC25A38c.581A= (p.Gln194=)
c.578A= (p.Gln193=)
c.575A= (p.Gln192=)
c.449A= (p.Gln150=)
c.722-37A= (n.722-37A=)
c.629A= (p.Gln210=)
c.617A= (p.Gln206=)
c.611A= (p.Gln204=)
c.626-1985A= (n.626-1985A=)
3g.39394413A>CCA352204396SLC25A38c.581A>C (p.Gln194Pro)
c.578A>C (p.Gln193Pro)
c.575A>C (p.Gln192Pro)
c.449A>C (p.Gln150Pro)
c.722-37A>C (n.722-37A>C)
c.629A>C (p.Gln210Pro)
c.617A>C (p.Gln206Pro)
c.611A>C (p.Gln204Pro)
c.626-1985A>C (n.626-1985A>C)
3g.39394413A>GCA352204399SLC25A38c.581A>G (p.Gln194Arg)
c.578A>G (p.Gln193Arg)
c.575A>G (p.Gln192Arg)
c.449A>G (p.Gln150Arg)
c.722-37A>G (n.722-37A>G)
c.629A>G (p.Gln210Arg)
c.617A>G (p.Gln206Arg)
c.611A>G (p.Gln204Arg)
c.626-1985A>G (n.626-1985A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.39394413A>TCA352204403SLC25A38c.581A>T (p.Gln194Leu)
c.578A>T (p.Gln193Leu)
c.575A>T (p.Gln192Leu)
c.449A>T (p.Gln150Leu)
c.722-37A>T (n.722-37A>T)
c.629A>T (p.Gln210Leu)
c.617A>T (p.Gln206Leu)
c.611A>T (p.Gln204Leu)
c.626-1985A>T (n.626-1985A>T)
 gnomAD v4
3g.39394414G>ACA433164060SLC25A38c.582G>A (p.Gln194=)
c.579G>A (p.Gln193=)
c.576G>A (p.Gln192=)
c.450G>A (p.Gln150=)
c.722-36G>A (n.722-36G>A)
c.630G>A (p.Gln210=)
c.618G>A (p.Gln206=)
c.612G>A (p.Gln204=)
c.626-1984G>A (n.626-1984G>A)
3g.39394414G>CCA352204406SLC25A38c.582G>C (p.Gln194His)
c.579G>C (p.Gln193His)
c.576G>C (p.Gln192His)
c.450G>C (p.Gln150His)
c.722-36G>C (n.722-36G>C)
c.630G>C (p.Gln210His)
c.618G>C (p.Gln206His)
c.612G>C (p.Gln204His)
c.626-1984G>C (n.626-1984G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.39394414G=CA1358939271SLC25A38c.582G= (p.Gln194=)
c.579G= (p.Gln193=)
c.576G= (p.Gln192=)
c.450G= (p.Gln150=)
c.722-36G= (n.722-36G=)
c.630G= (p.Gln210=)
c.618G= (p.Gln206=)
c.612G= (p.Gln204=)
c.626-1984G= (n.626-1984G=)
3g.39394414G>TCA352204413SLC25A38c.582G>T (p.Gln194His)
c.579G>T (p.Gln193His)
c.576G>T (p.Gln192His)
c.450G>T (p.Gln150His)
c.722-36G>T (n.722-36G>T)
c.630G>T (p.Gln210His)
c.618G>T (p.Gln206His)
c.612G>T (p.Gln204His)
c.626-1984G>T (n.626-1984G>T)
3g.39394416_39394418delCA2665162914SLC25A38c.584_586del (p.Val195del)
c.581_583del (p.Val194del)
c.578_580del (p.Val193del)
c.452_454del (p.Val151del)
c.722-34_722-32del (n.722-34_722-32del)
c.632_634del (p.Val211del)
c.620_622del (p.Val207del)
c.614_616del (p.Val205del)
c.626-1982_626-1980del (n.626-1982_626-1980del)
 gnomAD v4
3g.39394415G>ACA352204417SLC25A38c.583G>A (p.Val195Met)
c.580G>A (p.Val194Met)
c.577G>A (p.Val193Met)
c.451G>A (p.Val151Met)
c.722-35G>A (n.722-35G>A)
c.631G>A (p.Val211Met)
c.619G>A (p.Val207Met)
c.613G>A (p.Val205Met)
c.626-1983G>A (n.626-1983G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.39394415G>CCA352204419SLC25A38c.583G>C (p.Val195Leu)
c.580G>C (p.Val194Leu)
c.577G>C (p.Val193Leu)
c.451G>C (p.Val151Leu)
c.722-35G>C (n.722-35G>C)
c.631G>C (p.Val211Leu)
c.619G>C (p.Val207Leu)
c.613G>C (p.Val205Leu)
c.626-1983G>C (n.626-1983G>C)
3g.39394415G=CA1358939272SLC25A38c.583G= (p.Val195=)
c.580G= (p.Val194=)
c.577G= (p.Val193=)
c.451G= (p.Val151=)
c.722-35G= (n.722-35G=)
c.631G= (p.Val211=)
c.619G= (p.Val207=)
c.613G= (p.Val205=)
c.626-1983G= (n.626-1983G=)
3g.39394415G>TCA352204422SLC25A38c.583G>T (p.Val195Leu)
c.580G>T (p.Val194Leu)
c.577G>T (p.Val193Leu)
c.451G>T (p.Val151Leu)
c.722-35G>T (n.722-35G>T)
c.631G>T (p.Val211Leu)
c.619G>T (p.Val207Leu)
c.613G>T (p.Val205Leu)
c.626-1983G>T (n.626-1983G>T)
3g.39394416T>ACA352204427SLC25A38c.584T>A (p.Val195Glu)
c.581T>A (p.Val194Glu)
c.578T>A (p.Val193Glu)
c.452T>A (p.Val151Glu)
c.722-34T>A (n.722-34T>A)
c.632T>A (p.Val211Glu)
c.620T>A (p.Val207Glu)
c.614T>A (p.Val205Glu)
c.626-1982T>A (n.626-1982T>A)
3g.39394416T>CCA352204433SLC25A38c.584T>C (p.Val195Ala)
c.581T>C (p.Val194Ala)
c.578T>C (p.Val193Ala)
c.452T>C (p.Val151Ala)
c.722-34T>C (n.722-34T>C)
c.632T>C (p.Val211Ala)
c.620T>C (p.Val207Ala)
c.614T>C (p.Val205Ala)
c.626-1982T>C (n.626-1982T>C)
3g.39394416T>GCA352204435SLC25A38c.584T>G (p.Val195Gly)
c.581T>G (p.Val194Gly)
c.578T>G (p.Val193Gly)
c.452T>G (p.Val151Gly)
c.722-34T>G (n.722-34T>G)
c.632T>G (p.Val211Gly)
c.620T>G (p.Val207Gly)
c.614T>G (p.Val205Gly)
c.626-1982T>G (n.626-1982T>G)
3g.39394417G>ACA2327524SLC25A38c.585G>A (p.Val195=)
c.582G>A (p.Val194=)
c.579G>A (p.Val193=)
c.453G>A (p.Val151=)
c.722-33G>A (n.722-33G>A)
c.633G>A (p.Val211=)
c.621G>A (p.Val207=)
c.615G>A (p.Val205=)
c.626-1981G>A (n.626-1981G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.39394417G>CCA433164075SLC25A38c.585G>C (p.Val195=)
c.582G>C (p.Val194=)
c.579G>C (p.Val193=)
c.453G>C (p.Val151=)
c.722-33G>C (n.722-33G>C)
c.633G>C (p.Val211=)
c.621G>C (p.Val207=)
c.615G>C (p.Val205=)
c.626-1981G>C (n.626-1981G>C)
3g.39394417G=CA1358939273SLC25A38c.585G= (p.Val195=)
c.582G= (p.Val194=)
c.579G= (p.Val193=)
c.453G= (p.Val151=)
c.722-33G= (n.722-33G=)
c.633G= (p.Val211=)
c.621G= (p.Val207=)
c.615G= (p.Val205=)
c.626-1981G= (n.626-1981G=)
3g.39394417G>TCA433164077SLC25A38c.585G>T (p.Val195=)
c.582G>T (p.Val194=)
c.579G>T (p.Val193=)
c.453G>T (p.Val151=)
c.722-33G>T (n.722-33G>T)
c.633G>T (p.Val211=)
c.621G>T (p.Val207=)
c.615G>T (p.Val205=)
c.626-1981G>T (n.626-1981G>T)
3g.39394418G>ACA352204453SLC25A38c.586G>A (p.Asp196Asn)
c.583G>A (p.Asp195Asn)
c.580G>A (p.Asp194Asn)
c.454G>A
c.722-32G>A (n.722-32G>A)
c.634G>A (p.Asp212Asn)
c.622G>A (p.Asp208Asn)
c.616G>A (p.Asp206Asn)
c.454G>A (p.Asp152Asn)
c.626-1980G>A (n.626-1980G>A)
3g.39394418G>CCA352204456SLC25A38c.586G>C (p.Asp196His)
c.583G>C (p.Asp195His)
c.580G>C (p.Asp194His)
c.454G>C
c.722-32G>C (n.722-32G>C)
c.634G>C (p.Asp212His)
c.622G>C (p.Asp208His)
c.616G>C (p.Asp206His)
c.454G>C (p.Asp152His)
c.626-1980G>C (n.626-1980G>C)
3g.39394418G>TCA352204458SLC25A38c.586G>T (p.Asp196Tyr)
c.583G>T (p.Asp195Tyr)
c.580G>T (p.Asp194Tyr)
c.454G>T
c.722-32G>T (n.722-32G>T)
c.634G>T (p.Asp212Tyr)
c.622G>T (p.Asp208Tyr)
c.616G>T (p.Asp206Tyr)
c.454G>T (p.Asp152Tyr)
c.626-1980G>T (n.626-1980G>T)
3g.39394419A=CA1358939274SLC25A38c.587A= (p.Asp196=)
c.584A= (p.Asp195=)
c.581A= (p.Asp194=)
c.722-31A= (n.722-31A=)
c.635A= (p.Asp212=)
c.623A= (p.Asp208=)
c.617A= (p.Asp206=)
c.455A= (p.Asp152=)
c.626-1979A= (n.626-1979A=)
3g.39394419A>CCA352204461SLC25A38c.587A>C (p.Asp196Ala)
c.584A>C (p.Asp195Ala)
c.581A>C (p.Asp194Ala)
c.722-31A>C (n.722-31A>C)
c.635A>C (p.Asp212Ala)
c.623A>C (p.Asp208Ala)
c.617A>C (p.Asp206Ala)
c.455A>C (p.Asp152Ala)
c.626-1979A>C (n.626-1979A>C)
 dbSNP
3g.39394419A>GCA352204463SLC25A38c.587A>G (p.Asp196Gly)
c.584A>G (p.Asp195Gly)
c.581A>G (p.Asp194Gly)
c.722-31A>G (n.722-31A>G)
c.635A>G (p.Asp212Gly)
c.623A>G (p.Asp208Gly)
c.617A>G (p.Asp206Gly)
c.455A>G (p.Asp152Gly)
c.626-1979A>G (n.626-1979A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.39394419A>TCA352204466SLC25A38c.587A>T (p.Asp196Val)
c.584A>T (p.Asp195Val)
c.581A>T (p.Asp194Val)
c.722-31A>T (n.722-31A>T)
c.635A>T (p.Asp212Val)
c.623A>T (p.Asp208Val)
c.617A>T (p.Asp206Val)
c.455A>T (p.Asp152Val)
c.626-1979A>T (n.626-1979A>T)
 gnomAD v4
3g.39394420T>ACA352204472SLC25A38c.588T>A (p.Asp196Glu)
c.585T>A (p.Asp195Glu)
c.582T>A (p.Asp194Glu)
c.722-30T>A (n.722-30T>A)
c.636T>A (p.Asp212Glu)
c.624T>A (p.Asp208Glu)
c.618T>A (p.Asp206Glu)
c.456T>A (p.Asp152Glu)
c.626-1978T>A (n.626-1978T>A)
3g.39394420T>CCA433164092SLC25A38c.588T>C (p.Asp196=)
c.585T>C (p.Asp195=)
c.582T>C (p.Asp194=)
c.722-30T>C (n.722-30T>C)
c.636T>C (p.Asp212=)
c.624T>C (p.Asp208=)
c.618T>C (p.Asp206=)
c.456T>C (p.Asp152=)
c.626-1978T>C (n.626-1978T>C)
3g.39394420T>GCA352204474SLC25A38c.588T>G (p.Asp196Glu)
c.585T>G (p.Asp195Glu)
c.582T>G (p.Asp194Glu)
c.722-30T>G (n.722-30T>G)
c.636T>G (p.Asp212Glu)
c.624T>G (p.Asp208Glu)
c.618T>G (p.Asp206Glu)
c.456T>G (p.Asp152Glu)
c.626-1978T>G (n.626-1978T>G)
3g.39394421G>ACA352204477SLC25A38c.589G>A (p.Ala197Thr)
c.586G>A (p.Ala196Thr)
c.583G>A (p.Ala195Thr)
c.722-29G>A (n.722-29G>A)
c.637G>A (p.Ala213Thr)
c.625G>A (p.Ala209Thr)
c.619G>A (p.Ala207Thr)
c.457G>A (p.Ala153Thr)
c.626-1977G>A (n.626-1977G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.39394421G>CCA352204479SLC25A38c.589G>C (p.Ala197Pro)
c.586G>C (p.Ala196Pro)
c.583G>C (p.Ala195Pro)
c.722-29G>C (n.722-29G>C)
c.637G>C (p.Ala213Pro)
c.625G>C (p.Ala209Pro)
c.619G>C (p.Ala207Pro)
c.457G>C (p.Ala153Pro)
c.626-1977G>C (n.626-1977G>C)
3g.39394421G=CA1358939275SLC25A38c.589G= (p.Ala197=)
c.586G= (p.Ala196=)
c.583G= (p.Ala195=)
c.722-29G= (n.722-29G=)
c.637G= (p.Ala213=)
c.625G= (p.Ala209=)
c.619G= (p.Ala207=)
c.457G= (p.Ala153=)
c.626-1977G= (n.626-1977G=)
3g.39394421G>TCA352204481SLC25A38c.589G>T (p.Ala197Ser)
c.586G>T (p.Ala196Ser)
c.583G>T (p.Ala195Ser)
c.722-29G>T (n.722-29G>T)
c.637G>T (p.Ala213Ser)
c.625G>T (p.Ala209Ser)
c.619G>T (p.Ala207Ser)
c.457G>T (p.Ala153Ser)
c.626-1977G>T (n.626-1977G>T)
3g.39394422C>ACA352204484SLC25A38c.590C>A (p.Ala197Glu)
c.587C>A (p.Ala196Glu)
c.584C>A (p.Ala195Glu)
c.722-28C>A (n.722-28C>A)
c.638C>A (p.Ala213Glu)
c.626C>A (p.Ala209Glu)
c.620C>A (p.Ala207Glu)
c.458C>A (p.Ala153Glu)
c.626-1976C>A (n.626-1976C>A)
3g.39394422C=CA1358939276SLC25A38c.590C= (p.Ala197=)
c.587C= (p.Ala196=)
c.584C= (p.Ala195=)
c.722-28C= (n.722-28C=)
c.638C= (p.Ala213=)
c.626C= (p.Ala209=)
c.620C= (p.Ala207=)
c.458C= (p.Ala153=)
c.626-1976C= (n.626-1976C=)
3g.39394422C>GCA2327525SLC25A38c.590C>G (p.Ala197Gly)
c.587C>G (p.Ala196Gly)
c.584C>G (p.Ala195Gly)
c.722-28C>G (n.722-28C>G)
c.638C>G (p.Ala213Gly)
c.626C>G (p.Ala209Gly)
c.620C>G (p.Ala207Gly)
c.458C>G (p.Ala153Gly)
c.626-1976C>G (n.626-1976C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.39394422C>TCA352204490SLC25A38c.590C>T (p.Ala197Val)
c.587C>T (p.Ala196Val)
c.584C>T (p.Ala195Val)
c.722-28C>T (n.722-28C>T)
c.638C>T (p.Ala213Val)
c.626C>T (p.Ala209Val)
c.620C>T (p.Ala207Val)
c.458C>T (p.Ala153Val)
c.626-1976C>T (n.626-1976C>T)
3g.39394423A>CCA433164114SLC25A38c.591A>C (p.Ala197=)
c.588A>C (p.Ala196=)
c.585A>C (p.Ala195=)
c.722-27A>C (n.722-27A>C)
c.639A>C (p.Ala213=)
c.627A>C (p.Ala209=)
c.621A>C (p.Ala207=)
c.459A>C (p.Ala153=)
c.626-1975A>C (n.626-1975A>C)
3g.39394423A>GCA433164118SLC25A38c.591A>G (p.Ala197=)
c.588A>G (p.Ala196=)
c.585A>G (p.Ala195=)
c.722-27A>G (n.722-27A>G)
c.639A>G (p.Ala213=)
c.627A>G (p.Ala209=)
c.621A>G (p.Ala207=)
c.459A>G (p.Ala153=)
c.626-1975A>G (n.626-1975A>G)
3g.39394423A>TCA433164122SLC25A38c.591A>T (p.Ala197=)
c.588A>T (p.Ala196=)
c.585A>T (p.Ala195=)
c.722-27A>T (n.722-27A>T)
c.639A>T (p.Ala213=)
c.627A>T (p.Ala209=)
c.621A>T (p.Ala207=)
c.459A>T (p.Ala153=)
c.626-1975A>T (n.626-1975A>T)
3g.39394424A=CA1358939277SLC25A38c.592A= (p.Thr198=)
c.589A= (p.Thr197=)
c.586A= (p.Thr196=)
c.722-26A= (n.722-26A=)
c.640A= (p.Thr214=)
c.628A= (p.Thr210=)
c.622A= (p.Thr208=)
c.460A= (p.Thr154=)
c.626-1974A= (n.626-1974A=)
3g.39394424A>CCA352204494SLC25A38c.592A>C (p.Thr198Pro)
c.589A>C (p.Thr197Pro)
c.586A>C (p.Thr196Pro)
c.722-26A>C (n.722-26A>C)
c.640A>C (p.Thr214Pro)
c.628A>C (p.Thr210Pro)
c.622A>C (p.Thr208Pro)
c.460A>C (p.Thr154Pro)
c.626-1974A>C (n.626-1974A>C)
3g.39394424A>GCA352204498SLC25A38c.592A>G (p.Thr198Ala)
c.589A>G (p.Thr197Ala)
c.586A>G (p.Thr196Ala)
c.722-26A>G (n.722-26A>G)
c.640A>G (p.Thr214Ala)
c.628A>G (p.Thr210Ala)
c.622A>G (p.Thr208Ala)
c.460A>G (p.Thr154Ala)
c.626-1974A>G (n.626-1974A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.39394424A>TCA352204501SLC25A38c.592A>T (p.Thr198Ser)
c.589A>T (p.Thr197Ser)
c.586A>T (p.Thr196Ser)
c.722-26A>T (n.722-26A>T)
c.640A>T (p.Thr214Ser)
c.628A>T (p.Thr210Ser)
c.622A>T (p.Thr208Ser)
c.460A>T (p.Thr154Ser)
c.626-1974A>T (n.626-1974A>T)
3g.39394425C>ACA352204505SLC25A38c.593C>A (p.Thr198Asn)
c.590C>A (p.Thr197Asn)
c.587C>A (p.Thr196Asn)
c.722-25C>A (n.722-25C>A)
c.641C>A (p.Thr214Asn)
c.629C>A (p.Thr210Asn)
c.623C>A (p.Thr208Asn)
c.461C>A (p.Thr154Asn)
c.626-1973C>A (n.626-1973C>A)
3g.39394425C>GCA352204510SLC25A38c.593C>G (p.Thr198Ser)
c.590C>G (p.Thr197Ser)
c.587C>G (p.Thr196Ser)
c.722-25C>G (n.722-25C>G)
c.641C>G (p.Thr214Ser)
c.629C>G (p.Thr210Ser)
c.623C>G (p.Thr208Ser)
c.461C>G (p.Thr154Ser)
c.626-1973C>G (n.626-1973C>G)
3g.39394425C>TCA352204523SLC25A38c.593C>T (p.Thr198Ile)
c.590C>T (p.Thr197Ile)
c.587C>T (p.Thr196Ile)
c.722-25C>T (n.722-25C>T)
c.641C>T (p.Thr214Ile)
c.629C>T (p.Thr210Ile)
c.623C>T (p.Thr208Ile)
c.461C>T (p.Thr154Ile)
c.626-1973C>T (n.626-1973C>T)
 COSMIC
3g.39394426C>ACA433164134SLC25A38c.594C>A (p.Thr198=)
c.591C>A (p.Thr197=)
c.588C>A (p.Thr196=)
c.722-24C>A (n.722-24C>A)
c.642C>A (p.Thr214=)
c.630C>A (p.Thr210=)
c.624C>A (p.Thr208=)
c.462C>A (p.Thr154=)
c.626-1972C>A (n.626-1972C>A)
 ClinVar gnomAD v4
3g.39394426C>GCA433164136SLC25A38c.594C>G (p.Thr198=)
c.591C>G (p.Thr197=)
c.588C>G (p.Thr196=)
c.722-24C>G (n.722-24C>G)
c.642C>G (p.Thr214=)
c.630C>G (p.Thr210=)
c.624C>G (p.Thr208=)
c.462C>G (p.Thr154=)
c.626-1972C>G (n.626-1972C>G)
3g.39394426C>TCA433164137SLC25A38c.594C>T (p.Thr198=)
c.591C>T (p.Thr197=)
c.588C>T (p.Thr196=)
c.722-24C>T (n.722-24C>T)
c.642C>T (p.Thr214=)
c.630C>T (p.Thr210=)
c.624C>T (p.Thr208=)
c.462C>T (p.Thr154=)
c.626-1972C>T (n.626-1972C>T)
3g.39394427C>ACA352204528SLC25A38c.595C>A (p.Leu199Ile)
c.592C>A (p.Leu198Ile)
c.589C>A (p.Leu197Ile)
c.722-23C>A (n.722-23C>A)
c.643C>A (p.Leu215Ile)
c.631C>A (p.Leu211Ile)
c.625C>A (p.Leu209Ile)
c.463C>A (p.Leu155Ile)
c.626-1971C>A (n.626-1971C>A)
3g.39394427C>GCA352204539SLC25A38c.595C>G (p.Leu199Val)
c.592C>G (p.Leu198Val)
c.589C>G (p.Leu197Val)
c.722-23C>G (n.722-23C>G)
c.643C>G (p.Leu215Val)
c.631C>G (p.Leu211Val)
c.625C>G (p.Leu209Val)
c.463C>G (p.Leu155Val)
c.626-1971C>G (n.626-1971C>G)
3g.39394427C>TCA352204527SLC25A38c.595C>T (p.Leu199Phe)
c.592C>T (p.Leu198Phe)
c.589C>T (p.Leu197Phe)
c.722-23C>T (n.722-23C>T)
c.643C>T (p.Leu215Phe)
c.631C>T (p.Leu211Phe)
c.625C>T (p.Leu209Phe)
c.463C>T (p.Leu155Phe)
c.626-1971C>T (n.626-1971C>T)
3g.39394428T>ACA352204682SLC25A38c.596T>A (p.Leu199His)
c.593T>A (p.Leu198His)
c.590T>A (p.Leu197His)
c.722-22T>A (n.722-22T>A)
c.644T>A (p.Leu215His)
c.632T>A (p.Leu211His)
c.626T>A (p.Leu209His)
c.464T>A (p.Leu155His)
c.626-1970T>A (n.626-1970T>A)
3g.39394428T>CCA352204688SLC25A38c.596T>C (p.Leu199Pro)
c.593T>C (p.Leu198Pro)
c.590T>C (p.Leu197Pro)
c.722-22T>C (n.722-22T>C)
c.644T>C (p.Leu215Pro)
c.632T>C (p.Leu211Pro)
c.626T>C (p.Leu209Pro)
c.464T>C (p.Leu155Pro)
c.626-1970T>C (n.626-1970T>C)
3g.39394428T>GCA352204691SLC25A38c.596T>G (p.Leu199Arg)
c.593T>G (p.Leu198Arg)
c.590T>G (p.Leu197Arg)
c.722-22T>G (n.722-22T>G)
c.644T>G (p.Leu215Arg)
c.632T>G (p.Leu211Arg)
c.626T>G (p.Leu209Arg)
c.464T>G (p.Leu155Arg)
c.626-1970T>G (n.626-1970T>G)
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)

Number of alleles fetched