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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.39394498G>A | CA2327536 | SLC25A38 | c.666G>A (p.Ala222=) c.663G>A (p.Ala221=) c.660G>A (p.Ala220=) c.*11G>A (n.*11G>A) c.714G>A (p.Ala238=) c.702G>A (p.Ala234=) c.696G>A (p.Ala232=) c.534G>A (p.Ala178=) c.626-1900G>A (n.626-1900G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394498G>C | CA433164684 | SLC25A38 | c.666G>C (p.Ala222=) c.663G>C (p.Ala221=) c.660G>C (p.Ala220=) c.*11G>C (n.*11G>C) c.714G>C (p.Ala238=) c.702G>C (p.Ala234=) c.696G>C (p.Ala232=) c.534G>C (p.Ala178=) c.626-1900G>C (n.626-1900G>C) | |
| 3 | g.39394498G= | CA1358939304 | SLC25A38 | c.666G= (p.Ala222=) c.663G= (p.Ala221=) c.660G= (p.Ala220=) c.*11G= (n.*11G=) c.714G= (p.Ala238=) c.702G= (p.Ala234=) c.696G= (p.Ala232=) c.534G= (p.Ala178=) c.626-1900G= (n.626-1900G=) | |
| 3 | g.39394498G>T | CA433164682 | SLC25A38 | c.666G>T (p.Ala222=) c.663G>T (p.Ala221=) c.660G>T (p.Ala220=) c.*11G>T (n.*11G>T) c.714G>T (p.Ala238=) c.702G>T (p.Ala234=) c.696G>T (p.Ala232=) c.534G>T (p.Ala178=) c.626-1900G>T (n.626-1900G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394499G>A | CA352205236 | SLC25A38 | c.667G>A (p.Asp223Asn) c.664G>A (p.Asp222Asn) c.661G>A (p.Asp221Asn) c.*12G>A (n.*12G>A) c.715G>A (p.Asp239Asn) c.703G>A (p.Asp235Asn) c.697G>A (p.Asp233Asn) c.535G>A (p.Asp179Asn) c.626-1899G>A (n.626-1899G>A) | |
| 3 | g.39394499G>C | CA352205247 | SLC25A38 | c.667G>C (p.Asp223His) c.664G>C (p.Asp222His) c.661G>C (p.Asp221His) c.*12G>C (n.*12G>C) c.715G>C (p.Asp239His) c.703G>C (p.Asp235His) c.697G>C (p.Asp233His) c.535G>C (p.Asp179His) c.626-1899G>C (n.626-1899G>C) | |
| 3 | g.39394499G>T | CA352205250 | SLC25A38 | c.667G>T (p.Asp223Tyr) c.664G>T (p.Asp222Tyr) c.661G>T (p.Asp221Tyr) c.*12G>T (n.*12G>T) c.715G>T (p.Asp239Tyr) c.703G>T (p.Asp235Tyr) c.697G>T (p.Asp233Tyr) c.535G>T (p.Asp179Tyr) c.626-1899G>T (n.626-1899G>T) | |
| 3 | g.39394500A>C | CA352205251 | SLC25A38 | c.668A>C (p.Asp223Ala) c.665A>C (p.Asp222Ala) c.662A>C (p.Asp221Ala) c.*13A>C (n.*13A>C) c.716A>C (p.Asp239Ala) c.704A>C (p.Asp235Ala) c.698A>C (p.Asp233Ala) c.536A>C (p.Asp179Ala) c.626-1898A>C (n.626-1898A>C) | |
| 3 | g.39394500A>G | CA352205252 | SLC25A38 | c.668A>G (p.Asp223Gly) c.665A>G (p.Asp222Gly) c.662A>G (p.Asp221Gly) c.*13A>G (n.*13A>G) c.716A>G (p.Asp239Gly) c.704A>G (p.Asp235Gly) c.698A>G (p.Asp233Gly) c.536A>G (p.Asp179Gly) c.626-1898A>G (n.626-1898A>G) | |
| 3 | g.39394500A>T | CA352205253 | SLC25A38 | c.668A>T (p.Asp223Val) c.665A>T (p.Asp222Val) c.662A>T (p.Asp221Val) c.*13A>T (n.*13A>T) c.716A>T (p.Asp239Val) c.704A>T (p.Asp235Val) c.698A>T (p.Asp233Val) c.536A>T (p.Asp179Val) c.626-1898A>T (n.626-1898A>T) | |
| 3 | g.39394501T>A | CA352205254 | SLC25A38 | c.669T>A (p.Asp223Glu) c.666T>A (p.Asp222Glu) c.663T>A (p.Asp221Glu) c.*14T>A (n.*14T>A) c.717T>A (p.Asp239Glu) c.705T>A (p.Asp235Glu) c.699T>A (p.Asp233Glu) c.537T>A (p.Asp179Glu) c.626-1897T>A (n.626-1897T>A) | |
| 3 | g.39394501T>C | CA433164708 | SLC25A38 | c.669T>C (p.Asp223=) c.666T>C (p.Asp222=) c.663T>C (p.Asp221=) c.*14T>C (n.*14T>C) c.717T>C (p.Asp239=) c.705T>C (p.Asp235=) c.699T>C (p.Asp233=) c.537T>C (p.Asp179=) c.626-1897T>C (n.626-1897T>C) | |
| 3 | g.39394501T>G | CA352205258 | SLC25A38 | c.669T>G (p.Asp223Glu) c.666T>G (p.Asp222Glu) c.663T>G (p.Asp221Glu) c.*14T>G (n.*14T>G) c.717T>G (p.Asp239Glu) c.705T>G (p.Asp235Glu) c.699T>G (p.Asp233Glu) c.537T>G (p.Asp179Glu) c.626-1897T>G (n.626-1897T>G) | |
| 3 | g.39394502G>A | CA352205260 | SLC25A38 | c.670G>A (p.Val224Ile) c.667G>A (p.Val223Ile) c.664G>A (p.Val222Ile) c.*15G>A (n.*15G>A) c.718G>A (p.Val240Ile) c.706G>A (p.Val236Ile) c.700G>A (p.Val234Ile) c.538G>A (p.Val180Ile) c.626-1896G>A (n.626-1896G>A) | dbSNP gnomAD v4 |
| 3 | g.39394502G>C | CA352205263 | SLC25A38 | c.670G>C (p.Val224Leu) c.667G>C (p.Val223Leu) c.664G>C (p.Val222Leu) c.*15G>C (n.*15G>C) c.718G>C (p.Val240Leu) c.706G>C (p.Val236Leu) c.700G>C (p.Val234Leu) c.538G>C (p.Val180Leu) c.626-1896G>C (n.626-1896G>C) | |
| 3 | g.39394502G= | CA1358939305 | SLC25A38 | c.670G= (p.Val224=) c.667G= (p.Val223=) c.664G= (p.Val222=) c.*15G= (n.*15G=) c.718G= (p.Val240=) c.706G= (p.Val236=) c.700G= (p.Val234=) c.538G= (p.Val180=) c.626-1896G= (n.626-1896G=) | |
| 3 | g.39394502G>T | CA352205264 | SLC25A38 | c.670G>T (p.Val224Phe) c.667G>T (p.Val223Phe) c.664G>T (p.Val222Phe) c.*15G>T (n.*15G>T) c.718G>T (p.Val240Phe) c.706G>T (p.Val236Phe) c.700G>T (p.Val234Phe) c.538G>T (p.Val180Phe) c.626-1896G>T (n.626-1896G>T) | |
| 3 | g.39394503T>A | CA352205273 | SLC25A38 | c.671T>A (p.Val224Asp) c.668T>A (p.Val223Asp) c.665T>A (p.Val222Asp) c.*16T>A (n.*16T>A) c.719T>A (p.Val240Asp) c.707T>A (p.Val236Asp) c.701T>A (p.Val234Asp) c.539T>A (p.Val180Asp) c.626-1895T>A (n.626-1895T>A) | |
| 3 | g.39394503T>C | CA352205277 | SLC25A38 | c.671T>C (p.Val224Ala) c.668T>C (p.Val223Ala) c.665T>C (p.Val222Ala) c.*16T>C (n.*16T>C) c.719T>C (p.Val240Ala) c.707T>C (p.Val236Ala) c.701T>C (p.Val234Ala) c.539T>C (p.Val180Ala) c.626-1895T>C (n.626-1895T>C) | |
| 3 | g.39394503T>G | CA352205268 | SLC25A38 | c.671T>G (p.Val224Gly) c.668T>G (p.Val223Gly) c.665T>G (p.Val222Gly) c.*16T>G (n.*16T>G) c.719T>G (p.Val240Gly) c.707T>G (p.Val236Gly) c.701T>G (p.Val234Gly) c.539T>G (p.Val180Gly) c.626-1895T>G (n.626-1895T>G) | |
| 3 | g.39394504T>A | CA433164730 | SLC25A38 | c.672T>A (p.Val224=) c.669T>A (p.Val223=) c.666T>A (p.Val222=) c.*17T>A (n.*17T>A) c.720T>A (p.Val240=) c.708T>A (p.Val236=) c.702T>A (p.Val234=) c.540T>A (p.Val180=) c.626-1894T>A (n.626-1894T>A) | |
| 3 | g.39394504T>C | CA433164733 | SLC25A38 | c.672T>C (p.Val224=) c.669T>C (p.Val223=) c.666T>C (p.Val222=) c.*17T>C (n.*17T>C) c.720T>C (p.Val240=) c.708T>C (p.Val236=) c.702T>C (p.Val234=) c.540T>C (p.Val180=) c.626-1894T>C (n.626-1894T>C) | |
| 3 | g.39394504T>G | CA433164736 | SLC25A38 | c.672T>G (p.Val224=) c.669T>G (p.Val223=) c.666T>G (p.Val222=) c.*17T>G (n.*17T>G) c.720T>G (p.Val240=) c.708T>G (p.Val236=) c.702T>G (p.Val234=) c.540T>G (p.Val180=) c.626-1894T>G (n.626-1894T>G) | |
| 3 | g.39394505A>C | CA352205279 | SLC25A38 | c.673A>C (p.Ile225Leu) c.670A>C (p.Ile224Leu) c.667A>C (p.Ile223Leu) c.*18A>C (n.*18A>C) c.721A>C (p.Ile241Leu) c.709A>C (p.Ile237Leu) c.703A>C (p.Ile235Leu) c.541A>C (p.Ile181Leu) c.626-1893A>C (n.626-1893A>C) | |
| 3 | g.39394505A>G | CA352205280 | SLC25A38 | c.673A>G (p.Ile225Val) c.670A>G (p.Ile224Val) c.667A>G (p.Ile223Val) c.*18A>G (n.*18A>G) c.721A>G (p.Ile241Val) c.709A>G (p.Ile237Val) c.703A>G (p.Ile235Val) c.541A>G (p.Ile181Val) c.626-1893A>G (n.626-1893A>G) | |
| 3 | g.39394505A>T | CA352205281 | SLC25A38 | c.673A>T (p.Ile225Phe) c.670A>T (p.Ile224Phe) c.667A>T (p.Ile223Phe) c.*18A>T (n.*18A>T) c.721A>T (p.Ile241Phe) c.709A>T (p.Ile237Phe) c.703A>T (p.Ile235Phe) c.541A>T (p.Ile181Phe) c.626-1893A>T (n.626-1893A>T) | |
| 3 | g.39394506T>A | CA352205284 | SLC25A38 | c.674T>A (p.Ile225Asn) c.671T>A (p.Ile224Asn) c.668T>A (p.Ile223Asn) c.*19T>A (n.*19T>A) c.722T>A (p.Ile241Asn) c.710T>A (p.Ile237Asn) c.704T>A (p.Ile235Asn) c.542T>A (p.Ile181Asn) c.626-1892T>A (n.626-1892T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394506T>C | CA2327537 | SLC25A38 | c.674T>C (p.Ile225Thr) c.671T>C (p.Ile224Thr) c.668T>C (p.Ile223Thr) c.*19T>C (n.*19T>C) c.722T>C (p.Ile241Thr) c.710T>C (p.Ile237Thr) c.704T>C (p.Ile235Thr) c.542T>C (p.Ile181Thr) c.626-1892T>C (n.626-1892T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394506T>G | CA352205288 | SLC25A38 | c.674T>G (p.Ile225Ser) c.671T>G (p.Ile224Ser) c.668T>G (p.Ile223Ser) c.*19T>G (n.*19T>G) c.722T>G (p.Ile241Ser) c.710T>G (p.Ile237Ser) c.704T>G (p.Ile235Ser) c.542T>G (p.Ile181Ser) c.626-1892T>G (n.626-1892T>G) | |
| 3 | g.39394506T= | CA1358939306 | SLC25A38 | c.674T= (p.Ile225=) c.671T= (p.Ile224=) c.668T= (p.Ile223=) c.*19T= (n.*19T=) c.722T= (p.Ile241=) c.710T= (p.Ile237=) c.704T= (p.Ile235=) c.542T= (p.Ile181=) c.626-1892T= (n.626-1892T=) | |
| 3 | g.39394507C>A | CA433164756 | SLC25A38 | c.675C>A (p.Ile225=) c.672C>A (p.Ile224=) c.669C>A (p.Ile223=) c.*20C>A (n.*20C>A) c.723C>A (p.Ile241=) c.711C>A (p.Ile237=) c.705C>A (p.Ile235=) c.543C>A (p.Ile181=) c.626-1891C>A (n.626-1891C>A) | |
| 3 | g.39394507C>G | CA352205293 | SLC25A38 | c.675C>G (p.Ile225Met) c.672C>G (p.Ile224Met) c.669C>G (p.Ile223Met) c.*20C>G (n.*20C>G) c.723C>G (p.Ile241Met) c.711C>G (p.Ile237Met) c.705C>G (p.Ile235Met) c.543C>G (p.Ile181Met) c.626-1891C>G (n.626-1891C>G) | |
| 3 | g.39394507C>T | CA433164759 | SLC25A38 | c.675C>T (p.Ile225=) c.672C>T (p.Ile224=) c.669C>T (p.Ile223=) c.*20C>T (n.*20C>T) c.723C>T (p.Ile241=) c.711C>T (p.Ile237=) c.705C>T (p.Ile235=) c.543C>T (p.Ile181=) c.626-1891C>T (n.626-1891C>T) | |
| 3 | g.39394508A>C | CA352205306 | SLC25A38 | c.676A>C (p.Lys226Gln) c.673A>C (p.Lys225Gln) c.670A>C (p.Lys224Gln) c.*21A>C (n.*21A>C) c.724A>C (p.Lys242Gln) c.712A>C (p.Lys238Gln) c.706A>C (p.Lys236Gln) c.544A>C (p.Lys182Gln) c.626-1890A>C (n.626-1890A>C) | gnomAD v4 |
| 3 | g.39394508A>G | CA352205312 | SLC25A38 | c.676A>G (p.Lys226Glu) c.673A>G (p.Lys225Glu) c.670A>G (p.Lys224Glu) c.*21A>G (n.*21A>G) c.724A>G (p.Lys242Glu) c.712A>G (p.Lys238Glu) c.706A>G (p.Lys236Glu) c.544A>G (p.Lys182Glu) c.626-1890A>G (n.626-1890A>G) | |
| 3 | g.39394508A>T | CA352205315 | SLC25A38 | c.676A>T (p.Lys226Ter) c.673A>T (p.Lys225Ter) c.670A>T (p.Lys224Ter) c.*21A>T (n.*21A>T) c.724A>T (p.Lys242Ter) c.712A>T (p.Lys238Ter) c.706A>T (p.Lys236Ter) c.544A>T (p.Lys182Ter) c.626-1890A>T (n.626-1890A>T) | |
| 3 | g.39394509A= | CA1358939307 | SLC25A38 | c.677A= (p.Lys226=) c.674A= (p.Lys225=) c.671A= (p.Lys224=) c.*22A= (n.*22A=) c.725A= (p.Lys242=) c.713A= (p.Lys238=) c.707A= (p.Lys236=) c.545A= (p.Lys182=) c.626-1889A= (n.626-1889A=) | |
| 3 | g.39394509A>C | CA352205317 | SLC25A38 | c.677A>C (p.Lys226Thr) c.674A>C (p.Lys225Thr) c.671A>C (p.Lys224Thr) c.*22A>C (n.*22A>C) c.725A>C (p.Lys242Thr) c.713A>C (p.Lys238Thr) c.707A>C (p.Lys236Thr) c.545A>C (p.Lys182Thr) c.626-1889A>C (n.626-1889A>C) | |
| 3 | g.39394509A>G | CA2327538 | SLC25A38 | c.677A>G (p.Lys226Arg) c.674A>G (p.Lys225Arg) c.671A>G (p.Lys224Arg) c.*22A>G (n.*22A>G) c.725A>G (p.Lys242Arg) c.713A>G (p.Lys238Arg) c.707A>G (p.Lys236Arg) c.545A>G (p.Lys182Arg) c.626-1889A>G (n.626-1889A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394509A>T | CA352205322 | SLC25A38 | c.677A>T (p.Lys226Ile) c.674A>T (p.Lys225Ile) c.671A>T (p.Lys224Ile) c.*22A>T (n.*22A>T) c.725A>T (p.Lys242Ile) c.713A>T (p.Lys238Ile) c.707A>T (p.Lys236Ile) c.545A>T (p.Lys182Ile) c.626-1889A>T (n.626-1889A>T) | |
| 3 | g.39394510A= | CA1358939308 | SLC25A38 | c.678A= (p.Lys226=) c.675A= (p.Lys225=) c.672A= (p.Lys224=) c.*23A= (n.*23A=) c.726A= (p.Lys242=) c.714A= (p.Lys238=) c.708A= (p.Lys236=) c.546A= (p.Lys182=) c.626-1888A= (n.626-1888A=) | |
| 3 | g.39394510A>C | CA352205330 | SLC25A38 | c.678A>C (p.Lys226Asn) c.675A>C (p.Lys225Asn) c.672A>C (p.Lys224Asn) c.*23A>C (n.*23A>C) c.726A>C (p.Lys242Asn) c.714A>C (p.Lys238Asn) c.708A>C (p.Lys236Asn) c.546A>C (p.Lys182Asn) c.626-1888A>C (n.626-1888A>C) | |
| 3 | g.39394510A>G | CA2327539 | SLC25A38 | c.678A>G (p.Lys226=) c.675A>G (p.Lys225=) c.672A>G (p.Lys224=) c.*23A>G (n.*23A>G) c.726A>G (p.Lys242=) c.714A>G (p.Lys238=) c.708A>G (p.Lys236=) c.546A>G (p.Lys182=) c.626-1888A>G (n.626-1888A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394510A>T | CA352205327 | SLC25A38 | c.678A>T (p.Lys226Asn) c.675A>T (p.Lys225Asn) c.672A>T (p.Lys224Asn) c.*23A>T (n.*23A>T) c.726A>T (p.Lys242Asn) c.714A>T (p.Lys238Asn) c.708A>T (p.Lys236Asn) c.546A>T (p.Lys182Asn) c.626-1888A>T (n.626-1888A>T) | |
| 3 | g.39394511A>C | CA352205333 | SLC25A38 | c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) c.673A>C (p.Thr225Pro) c.*24A>C (n.*24A>C) c.727A>C (p.Thr243Pro) c.715A>C (p.Thr239Pro) c.709A>C (p.Thr237Pro) c.547A>C (p.Thr183Pro) c.626-1887A>C (n.626-1887A>C) | |
| 3 | g.39394511A>G | CA352205336 | SLC25A38 | c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) c.673A>G (p.Thr225Ala) c.*24A>G (n.*24A>G) c.727A>G (p.Thr243Ala) c.715A>G (p.Thr239Ala) c.709A>G (p.Thr237Ala) c.547A>G (p.Thr183Ala) c.626-1887A>G (n.626-1887A>G) | |
| 3 | g.39394511A>T | CA352205341 | SLC25A38 | c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) c.673A>T (p.Thr225Ser) c.*24A>T (n.*24A>T) c.727A>T (p.Thr243Ser) c.715A>T (p.Thr239Ser) c.709A>T (p.Thr237Ser) c.547A>T (p.Thr183Ser) c.626-1887A>T (n.626-1887A>T) | |
| 3 | g.39394512C>A | CA352205345 | SLC25A38 | c.680C>A (p.Thr227Asn) c.677C>A (p.Thr226Asn) c.674C>A (p.Thr225Asn) c.*25C>A (n.*25C>A) c.728C>A (p.Thr243Asn) c.716C>A (p.Thr239Asn) c.710C>A (p.Thr237Asn) c.548C>A (p.Thr183Asn) c.626-1886C>A (n.626-1886C>A) | |
| 3 | g.39394512C= | CA1358939309 | SLC25A38 | c.680C= (p.Thr227=) c.677C= (p.Thr226=) c.674C= (p.Thr225=) c.*25C= (n.*25C=) c.728C= (p.Thr243=) c.716C= (p.Thr239=) c.710C= (p.Thr237=) c.548C= (p.Thr183=) c.626-1886C= (n.626-1886C=) | |
| 3 | g.39394512C>G | CA352205347 | SLC25A38 | c.680C>G (p.Thr227Ser) c.677C>G (p.Thr226Ser) c.674C>G (p.Thr225Ser) c.*25C>G (n.*25C>G) c.728C>G (p.Thr243Ser) c.716C>G (p.Thr239Ser) c.710C>G (p.Thr237Ser) c.548C>G (p.Thr183Ser) c.626-1886C>G (n.626-1886C>G) | |
| 3 | g.39394512C>T | CA352205350 | SLC25A38 | c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) c.674C>T (p.Thr225Ile) c.*25C>T (n.*25C>T) c.728C>T (p.Thr243Ile) c.716C>T (p.Thr239Ile) c.710C>T (p.Thr237Ile) c.548C>T (p.Thr183Ile) c.626-1886C>T (n.626-1886C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394513T>A | CA433164778 | SLC25A38 | c.681T>A (p.Thr227=) c.678T>A (p.Thr226=) c.675T>A (p.Thr225=) c.*26T>A (n.*26T>A) c.729T>A (p.Thr243=) c.717T>A (p.Thr239=) c.711T>A (p.Thr237=) c.549T>A (p.Thr183=) c.626-1885T>A (n.626-1885T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394513T>C | CA433164777 | SLC25A38 | c.681T>C (p.Thr227=) c.678T>C (p.Thr226=) c.675T>C (p.Thr225=) c.*26T>C (n.*26T>C) c.729T>C (p.Thr243=) c.717T>C (p.Thr239=) c.711T>C (p.Thr237=) c.549T>C (p.Thr183=) c.626-1885T>C (n.626-1885T>C) | |
| 3 | g.39394513T>G | CA433164775 | SLC25A38 | c.681T>G (p.Thr227=) c.678T>G (p.Thr226=) c.675T>G (p.Thr225=) c.*26T>G (n.*26T>G) c.729T>G (p.Thr243=) c.717T>G (p.Thr239=) c.711T>G (p.Thr237=) c.549T>G (p.Thr183=) c.626-1885T>G (n.626-1885T>G) | |
| 3 | g.39394513T= | CA1358939310 | SLC25A38 | c.681T= (p.Thr227=) c.678T= (p.Thr226=) c.675T= (p.Thr225=) c.*26T= (n.*26T=) c.729T= (p.Thr243=) c.717T= (p.Thr239=) c.711T= (p.Thr237=) c.549T= (p.Thr183=) c.626-1885T= (n.626-1885T=) | |
| 3 | g.39394514C>A | CA352205370 | SLC25A38 | c.682C>A (p.His228Asn) c.679C>A (p.His227Asn) c.676C>A (p.His226Asn) c.*27C>A (n.*27C>A) c.730C>A (p.His244Asn) c.718C>A (p.His240Asn) c.712C>A (p.His238Asn) c.550C>A (p.His184Asn) c.626-1884C>A (n.626-1884C>A) | |
| 3 | g.39394514C= | CA1358939311 | SLC25A38 | c.682C= (p.His228=) c.679C= (p.His227=) c.676C= (p.His226=) c.*27C= (n.*27C=) c.730C= (p.His244=) c.718C= (p.His240=) c.712C= (p.His238=) c.550C= (p.His184=) c.626-1884C= (n.626-1884C=) | |
| 3 | g.39394514C>G | CA352205353 | SLC25A38 | c.682C>G (p.His228Asp) c.679C>G (p.His227Asp) c.676C>G (p.His226Asp) c.*27C>G (n.*27C>G) c.730C>G (p.His244Asp) c.718C>G (p.His240Asp) c.712C>G (p.His238Asp) c.550C>G (p.His184Asp) c.626-1884C>G (n.626-1884C>G) | |
| 3 | g.39394514C>T | CA352205369 | SLC25A38 | c.682C>T (p.His228Tyr) c.679C>T (p.His227Tyr) c.676C>T (p.His226Tyr) c.*27C>T (n.*27C>T) c.730C>T (p.His244Tyr) c.718C>T (p.His240Tyr) c.712C>T (p.His238Tyr) c.550C>T (p.His184Tyr) c.626-1884C>T (n.626-1884C>T) | dbSNP |
| 3 | g.39394515A>C | CA352205371 | SLC25A38 | c.683A>C (p.His228Pro) c.680A>C (p.His227Pro) c.677A>C (p.His226Pro) c.*28A>C (n.*28A>C) c.731A>C (p.His244Pro) c.719A>C (p.His240Pro) c.713A>C (p.His238Pro) c.551A>C (p.His184Pro) c.626-1883A>C (n.626-1883A>C) | |
| 3 | g.39394515A>G | CA352205375 | SLC25A38 | c.683A>G (p.His228Arg) c.680A>G (p.His227Arg) c.677A>G (p.His226Arg) c.*28A>G (n.*28A>G) c.731A>G (p.His244Arg) c.719A>G (p.His240Arg) c.713A>G (p.His238Arg) c.551A>G (p.His184Arg) c.626-1883A>G (n.626-1883A>G) | |
| 3 | g.39394515A>T | CA352205376 | SLC25A38 | c.683A>T (p.His228Leu) c.680A>T (p.His227Leu) c.677A>T (p.His226Leu) c.*28A>T (n.*28A>T) c.731A>T (p.His244Leu) c.719A>T (p.His240Leu) c.713A>T (p.His238Leu) c.551A>T (p.His184Leu) c.626-1883A>T (n.626-1883A>T) | |
| 3 | g.39394517_39394518del | CA2665162993 | SLC25A38 | c.685_686del (p.Met229AlafsTer?) c.682_683del (p.Met228AlafsTer?) c.679_680del (p.Met227AlafsTer?) c.*30_*31del (n.*30_*31del) c.733_734del (p.Met245AlafsTer?) c.721_722del (p.Met241AlafsTer?) c.715_716del (p.Met239AlafsTer?) c.553_554del (p.Met185AlafsTer?) c.626-1881_626-1880del (n.626-1881_626-1880del) | gnomAD v4 |
| 3 | g.39394516T>A | CA352205377 | SLC25A38 | c.684T>A (p.His228Gln) c.681T>A (p.His227Gln) c.678T>A (p.His226Gln) c.*29T>A (n.*29T>A) c.732T>A (p.His244Gln) c.720T>A (p.His240Gln) c.714T>A (p.His238Gln) c.552T>A (p.His184Gln) c.626-1882T>A (n.626-1882T>A) | gnomAD v4 |
| 3 | g.39394516T>C | CA433164786 | SLC25A38 | c.684T>C (p.His228=) c.681T>C (p.His227=) c.678T>C (p.His226=) c.*29T>C (n.*29T>C) c.732T>C (p.His244=) c.720T>C (p.His240=) c.714T>C (p.His238=) c.552T>C (p.His184=) c.626-1882T>C (n.626-1882T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394516T>G | CA352205378 | SLC25A38 | c.684T>G (p.His228Gln) c.681T>G (p.His227Gln) c.678T>G (p.His226Gln) c.*29T>G (n.*29T>G) c.732T>G (p.His244Gln) c.720T>G (p.His240Gln) c.714T>G (p.His238Gln) c.552T>G (p.His184Gln) c.626-1882T>G (n.626-1882T>G) | |
| 3 | g.39394516T= | CA1358939312 | SLC25A38 | c.684T= (p.His228=) c.681T= (p.His227=) c.678T= (p.His226=) c.*29T= (n.*29T=) c.732T= (p.His244=) c.720T= (p.His240=) c.714T= (p.His238=) c.552T= (p.His184=) c.626-1882T= (n.626-1882T=) | |
| 3 | g.39394517A>C | CA352205379 | SLC25A38 | c.685A>C (p.Met229Leu) c.682A>C (p.Met228Leu) c.679A>C (p.Met227Leu) c.*30A>C (n.*30A>C) c.733A>C (p.Met245Leu) c.721A>C (p.Met241Leu) c.715A>C (p.Met239Leu) c.553A>C (p.Met185Leu) c.626-1881A>C (n.626-1881A>C) | |
| 3 | g.39394517A>G | CA352205381 | SLC25A38 | c.685A>G (p.Met229Val) c.682A>G (p.Met228Val) c.679A>G (p.Met227Val) c.*30A>G (n.*30A>G) c.733A>G (p.Met245Val) c.721A>G (p.Met241Val) c.715A>G (p.Met239Val) c.553A>G (p.Met185Val) c.626-1881A>G (n.626-1881A>G) | |
| 3 | g.39394517A>T | CA352205380 | SLC25A38 | c.685A>T (p.Met229Leu) c.682A>T (p.Met228Leu) c.679A>T (p.Met227Leu) c.*30A>T (n.*30A>T) c.733A>T (p.Met245Leu) c.721A>T (p.Met241Leu) c.715A>T (p.Met239Leu) c.553A>T (p.Met185Leu) c.626-1881A>T (n.626-1881A>T) | |
| 3 | g.39394518T>A | CA352205382 | SLC25A38 | c.686T>A (p.Met229Lys) c.683T>A (p.Met228Lys) c.680T>A (p.Met227Lys) c.*31T>A (n.*31T>A) c.734T>A (p.Met245Lys) c.722T>A (p.Met241Lys) c.716T>A (p.Met239Lys) c.554T>A (p.Met185Lys) c.626-1880T>A (n.626-1880T>A) | |
| 3 | g.39394518T>C | CA352205385 | SLC25A38 | c.686T>C (p.Met229Thr) c.683T>C (p.Met228Thr) c.680T>C (p.Met227Thr) c.*31T>C (n.*31T>C) c.734T>C (p.Met245Thr) c.722T>C (p.Met241Thr) c.716T>C (p.Met239Thr) c.554T>C (p.Met185Thr) c.626-1880T>C (n.626-1880T>C) | gnomAD v4 |
| 3 | g.39394518T>G | CA352205384 | SLC25A38 | c.686T>G (p.Met229Arg) c.683T>G (p.Met228Arg) c.680T>G (p.Met227Arg) c.*31T>G (n.*31T>G) c.734T>G (p.Met245Arg) c.722T>G (p.Met241Arg) c.716T>G (p.Met239Arg) c.554T>G (p.Met185Arg) c.626-1880T>G (n.626-1880T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394518T= | CA1358939313 | SLC25A38 | c.686T= (p.Met229=) c.683T= (p.Met228=) c.680T= (p.Met227=) c.*31T= (n.*31T=) c.734T= (p.Met245=) c.722T= (p.Met241=) c.716T= (p.Met239=) c.554T= (p.Met185=) c.626-1880T= (n.626-1880T=) | |
| 3 | g.39394519G>A | CA352205388 | SLC25A38 | c.687G>A (p.Met229Ile) c.684G>A (p.Met228Ile) c.681G>A (p.Met227Ile) c.*32G>A (n.*32G>A) c.735G>A (p.Met245Ile) c.723G>A (p.Met241Ile) c.717G>A (p.Met239Ile) c.555G>A (p.Met185Ile) c.626-1879G>A (n.626-1879G>A) | |
| 3 | g.39394519G>C | CA352205391 | SLC25A38 | c.687G>C (p.Met229Ile) c.684G>C (p.Met228Ile) c.681G>C (p.Met227Ile) c.*32G>C (n.*32G>C) c.735G>C (p.Met245Ile) c.723G>C (p.Met241Ile) c.717G>C (p.Met239Ile) c.555G>C (p.Met185Ile) c.626-1879G>C (n.626-1879G>C) | |
| 3 | g.39394519G= | CA1358939314 | SLC25A38 | c.687G= (p.Met229=) c.684G= (p.Met228=) c.681G= (p.Met227=) c.*32G= (n.*32G=) c.735G= (p.Met245=) c.723G= (p.Met241=) c.717G= (p.Met239=) c.555G= (p.Met185=) c.626-1879G= (n.626-1879G=) | |
| 3 | g.39394519G>T | CA352205389 | SLC25A38 | c.687G>T (p.Met229Ile) c.684G>T (p.Met228Ile) c.681G>T (p.Met227Ile) c.*32G>T (n.*32G>T) c.735G>T (p.Met245Ile) c.723G>T (p.Met241Ile) c.717G>T (p.Met239Ile) c.555G>T (p.Met185Ile) c.626-1879G>T (n.626-1879G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394520C>A | CA352205392 | SLC25A38 | c.688C>A (p.Gln230Lys) c.685C>A (p.Gln229Lys) c.682C>A (p.Gln228Lys) c.*33C>A (n.*33C>A) c.736C>A (p.Gln246Lys) c.724C>A (p.Gln242Lys) c.718C>A (p.Gln240Lys) c.556C>A (p.Gln186Lys) c.626-1878C>A (n.626-1878C>A) | dbSNP |
| 3 | g.39394520C>G | CA352205395 | SLC25A38 | c.688C>G (p.Gln230Glu) c.685C>G (p.Gln229Glu) c.682C>G (p.Gln228Glu) c.*33C>G (n.*33C>G) c.736C>G (p.Gln246Glu) c.724C>G (p.Gln242Glu) c.718C>G (p.Gln240Glu) c.556C>G (p.Gln186Glu) c.626-1878C>G (n.626-1878C>G) | |
| 3 | g.39394520C>T | CA352205393 | SLC25A38 | c.688C>T (p.Gln230Ter) c.685C>T (p.Gln229Ter) c.682C>T (p.Gln228Ter) c.*33C>T (n.*33C>T) c.736C>T (p.Gln246Ter) c.724C>T (p.Gln242Ter) c.718C>T (p.Gln240Ter) c.556C>T (p.Gln186Ter) c.626-1878C>T (n.626-1878C>T) | |
| 3 | g.39394521A>C | CA352205398 | SLC25A38 | c.689A>C (p.Gln230Pro) c.686A>C (p.Gln229Pro) c.683A>C (p.Gln228Pro) c.*34A>C (n.*34A>C) c.737A>C (p.Gln246Pro) c.725A>C (p.Gln242Pro) c.719A>C (p.Gln240Pro) c.557A>C (p.Gln186Pro) c.626-1877A>C (n.626-1877A>C) | |
| 3 | g.39394521A>G | CA352205406 | SLC25A38 | c.689A>G (p.Gln230Arg) c.686A>G (p.Gln229Arg) c.683A>G (p.Gln228Arg) c.*34A>G (n.*34A>G) c.737A>G (p.Gln246Arg) c.725A>G (p.Gln242Arg) c.719A>G (p.Gln240Arg) c.557A>G (p.Gln186Arg) c.626-1877A>G (n.626-1877A>G) | |
| 3 | g.39394521A>T | CA352205411 | SLC25A38 | c.689A>T (p.Gln230Leu) c.686A>T (p.Gln229Leu) c.683A>T (p.Gln228Leu) c.*34A>T (n.*34A>T) c.737A>T (p.Gln246Leu) c.725A>T (p.Gln242Leu) c.719A>T (p.Gln240Leu) c.557A>T (p.Gln186Leu) c.626-1877A>T (n.626-1877A>T) | |
| 3 | g.39394522G>A | CA433164805 | SLC25A38 | c.690G>A (p.Gln230=) c.687G>A (p.Gln229=) c.684G>A (p.Gln228=) c.*35G>A (n.*35G>A) c.738G>A (p.Gln246=) c.726G>A (p.Gln242=) c.720G>A (p.Gln240=) c.558G>A (p.Gln186=) c.626-1876G>A (n.626-1876G>A) | |
| 3 | g.39394522G>C | CA352205413 | SLC25A38 | c.690G>C (p.Gln230His) c.687G>C (p.Gln229His) c.684G>C (p.Gln228His) c.*35G>C (n.*35G>C) c.738G>C (p.Gln246His) c.726G>C (p.Gln242His) c.720G>C (p.Gln240His) c.558G>C (p.Gln186His) c.626-1876G>C (n.626-1876G>C) | |
| 3 | g.39394522G>T | CA352205414 | SLC25A38 | c.690G>T (p.Gln230His) c.687G>T (p.Gln229His) c.684G>T (p.Gln228His) c.*35G>T (n.*35G>T) c.738G>T (p.Gln246His) c.726G>T (p.Gln242His) c.720G>T (p.Gln240His) c.558G>T (p.Gln186His) c.626-1876G>T (n.626-1876G>T) | |
| 3 | g.39394523C>A | CA352205417 | SLC25A38 | c.691C>A (p.Leu231Ile) c.688C>A (p.Leu230Ile) c.685C>A (p.Leu229Ile) c.*36C>A (n.*36C>A) c.739C>A (p.Leu247Ile) c.727C>A (p.Leu243Ile) c.721C>A (p.Leu241Ile) c.559C>A (p.Leu187Ile) c.626-1875C>A (n.626-1875C>A) | |
| 3 | g.39394523C= | CA1358939315 | SLC25A38 | c.691C= (p.Leu231=) c.688C= (p.Leu230=) c.685C= (p.Leu229=) c.*36C= (n.*36C=) c.739C= (p.Leu247=) c.727C= (p.Leu243=) c.721C= (p.Leu241=) c.559C= (p.Leu187=) c.626-1875C= (n.626-1875C=) | |
| 3 | g.39394523C>G | CA352205416 | SLC25A38 | c.691C>G (p.Leu231Val) c.688C>G (p.Leu230Val) c.685C>G (p.Leu229Val) c.*36C>G (n.*36C>G) c.739C>G (p.Leu247Val) c.727C>G (p.Leu243Val) c.721C>G (p.Leu241Val) c.559C>G (p.Leu187Val) c.626-1875C>G (n.626-1875C>G) | |
| 3 | g.39394523C>T | CA352205415 | SLC25A38 | c.691C>T (p.Leu231Phe) c.688C>T (p.Leu230Phe) c.685C>T (p.Leu229Phe) c.*36C>T (n.*36C>T) c.739C>T (p.Leu247Phe) c.727C>T (p.Leu243Phe) c.721C>T (p.Leu241Phe) c.559C>T (p.Leu187Phe) c.626-1875C>T (n.626-1875C>T) | dbSNP gnomAD v4 |
| 3 | g.39394524T>A | CA352205419 | SLC25A38 | c.692T>A (p.Leu231His) c.689T>A (p.Leu230His) c.686T>A (p.Leu229His) c.*37T>A (n.*37T>A) c.740T>A (p.Leu247His) c.728T>A (p.Leu243His) c.722T>A (p.Leu241His) c.560T>A (p.Leu187His) c.626-1874T>A (n.626-1874T>A) | |
| 3 | g.39394524T>C | CA352205422 | SLC25A38 | c.692T>C (p.Leu231Pro) c.689T>C (p.Leu230Pro) c.686T>C (p.Leu229Pro) c.*37T>C (n.*37T>C) c.740T>C (p.Leu247Pro) c.728T>C (p.Leu243Pro) c.722T>C (p.Leu241Pro) c.560T>C (p.Leu187Pro) c.626-1874T>C (n.626-1874T>C) | |
| 3 | g.39394524T>G | CA352205427 | SLC25A38 | c.692T>G (p.Leu231Arg) c.689T>G (p.Leu230Arg) c.686T>G (p.Leu229Arg) c.*37T>G (n.*37T>G) c.740T>G (p.Leu247Arg) c.728T>G (p.Leu243Arg) c.722T>G (p.Leu241Arg) c.560T>G (p.Leu187Arg) c.626-1874T>G (n.626-1874T>G) | |
| 3 | g.39394525T>A | CA433164813 | SLC25A38 | c.693T>A (p.Leu231=) c.690T>A (p.Leu230=) c.687T>A (p.Leu229=) c.*38T>A (n.*38T>A) c.741T>A (p.Leu247=) c.729T>A (p.Leu243=) c.723T>A (p.Leu241=) c.561T>A (p.Leu187=) c.626-1873T>A (n.626-1873T>A) | |
| 3 | g.39394525T>C | CA433164815 | SLC25A38 | c.693T>C (p.Leu231=) c.690T>C (p.Leu230=) c.687T>C (p.Leu229=) c.*38T>C (n.*38T>C) c.741T>C (p.Leu247=) c.729T>C (p.Leu243=) c.723T>C (p.Leu241=) c.561T>C (p.Leu187=) c.626-1873T>C (n.626-1873T>C) | |
| 3 | g.39394525T>G | CA433164816 | SLC25A38 | c.693T>G (p.Leu231=) c.690T>G (p.Leu230=) c.687T>G (p.Leu229=) c.*38T>G (n.*38T>G) c.741T>G (p.Leu247=) c.729T>G (p.Leu243=) c.723T>G (p.Leu241=) c.561T>G (p.Leu187=) c.626-1873T>G (n.626-1873T>G) | |
| 3 | g.39394526T>A | CA352205432 | SLC25A38 | c.694T>A (p.Tyr232Asn) c.691T>A (p.Tyr231Asn) c.688T>A (p.Tyr230Asn) c.*39T>A (n.*39T>A) c.742T>A (p.Tyr248Asn) c.730T>A (p.Tyr244Asn) c.724T>A (p.Tyr242Asn) c.562T>A (p.Tyr188Asn) c.626-1872T>A (n.626-1872T>A) | |
| 3 | g.39394526T>C | CA352205433 | SLC25A38 | c.694T>C (p.Tyr232His) c.691T>C (p.Tyr231His) c.688T>C (p.Tyr230His) c.*39T>C (n.*39T>C) c.742T>C (p.Tyr248His) c.730T>C (p.Tyr244His) c.724T>C (p.Tyr242His) c.562T>C (p.Tyr188His) c.626-1872T>C (n.626-1872T>C) | |
| 3 | g.39394526T>G | CA352205434 | SLC25A38 | c.694T>G (p.Tyr232Asp) c.691T>G (p.Tyr231Asp) c.688T>G (p.Tyr230Asp) c.*39T>G (n.*39T>G) c.742T>G (p.Tyr248Asp) c.730T>G (p.Tyr244Asp) c.724T>G (p.Tyr242Asp) c.562T>G (p.Tyr188Asp) c.626-1872T>G (n.626-1872T>G) | |
| 3 | g.39394527A>C | CA352205435 | SLC25A38 | c.695A>C (p.Tyr232Ser) c.692A>C (p.Tyr231Ser) c.689A>C (p.Tyr230Ser) c.*40A>C (n.*40A>C) c.743A>C (p.Tyr248Ser) c.731A>C (p.Tyr244Ser) c.725A>C (p.Tyr242Ser) c.563A>C (p.Tyr188Ser) c.626-1871A>C (n.626-1871A>C) | gnomAD v4 |
| 3 | g.39394527A>G | CA352205437 | SLC25A38 | c.695A>G (p.Tyr232Cys) c.692A>G (p.Tyr231Cys) c.689A>G (p.Tyr230Cys) c.*40A>G (n.*40A>G) c.743A>G (p.Tyr248Cys) c.731A>G (p.Tyr244Cys) c.725A>G (p.Tyr242Cys) c.563A>G (p.Tyr188Cys) c.626-1871A>G (n.626-1871A>G) | |
| 3 | g.39394527A>T | CA352205436 | SLC25A38 | c.695A>T (p.Tyr232Phe) c.692A>T (p.Tyr231Phe) c.689A>T (p.Tyr230Phe) c.*40A>T (n.*40A>T) c.743A>T (p.Tyr248Phe) c.731A>T (p.Tyr244Phe) c.725A>T (p.Tyr242Phe) c.563A>T (p.Tyr188Phe) c.626-1871A>T (n.626-1871A>T) | COSMIC |
| 3 | g.39394528T>A | CA352205439 | SLC25A38 | c.696T>A (p.Tyr232Ter) c.693T>A (p.Tyr231Ter) c.690T>A (p.Tyr230Ter) c.*41T>A (n.*41T>A) c.744T>A (p.Tyr248Ter) c.732T>A (p.Tyr244Ter) c.726T>A (p.Tyr242Ter) c.564T>A (p.Tyr188Ter) c.626-1870T>A (n.626-1870T>A) | |
| 3 | g.39394528T>C | CA2327540 | SLC25A38 | c.696T>C (p.Tyr232=) c.693T>C (p.Tyr231=) c.690T>C (p.Tyr230=) c.*41T>C (n.*41T>C) c.744T>C (p.Tyr248=) c.732T>C (p.Tyr244=) c.726T>C (p.Tyr242=) c.564T>C (p.Tyr188=) c.626-1870T>C (n.626-1870T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394528T>G | CA352205447 | SLC25A38 | c.696T>G (p.Tyr232Ter) c.693T>G (p.Tyr231Ter) c.690T>G (p.Tyr230Ter) c.*41T>G (n.*41T>G) c.744T>G (p.Tyr248Ter) c.732T>G (p.Tyr244Ter) c.726T>G (p.Tyr242Ter) c.564T>G (p.Tyr188Ter) c.626-1870T>G (n.626-1870T>G) | dbSNP gnomAD v2 |
| 3 | g.39394528T= | CA1358939316 | SLC25A38 | c.696T= (p.Tyr232=) c.693T= (p.Tyr231=) c.690T= (p.Tyr230=) c.*41T= (n.*41T=) c.744T= (p.Tyr248=) c.732T= (p.Tyr244=) c.726T= (p.Tyr242=) c.564T= (p.Tyr188=) c.626-1870T= (n.626-1870T=) | |
| 3 | g.39394529C>A | CA352205452 | SLC25A38 | c.697C>A (p.Pro233Thr) c.694C>A (p.Pro232Thr) c.691C>A (p.Pro231Thr) c.*42C>A (n.*42C>A) c.745C>A (p.Pro249Thr) c.733C>A (p.Pro245Thr) c.727C>A (p.Pro243Thr) c.565C>A (p.Pro189Thr) c.626-1869C>A (n.626-1869C>A) | |
| 3 | g.39394529C>G | CA352205455 | SLC25A38 | c.697C>G (p.Pro233Ala) c.694C>G (p.Pro232Ala) c.691C>G (p.Pro231Ala) c.*42C>G (n.*42C>G) c.745C>G (p.Pro249Ala) c.733C>G (p.Pro245Ala) c.727C>G (p.Pro243Ala) c.565C>G (p.Pro189Ala) c.626-1869C>G (n.626-1869C>G) | |
| 3 | g.39394529C>T | CA352205460 | SLC25A38 | c.697C>T (p.Pro233Ser) c.694C>T (p.Pro232Ser) c.691C>T (p.Pro231Ser) c.*42C>T (n.*42C>T) c.745C>T (p.Pro249Ser) c.733C>T (p.Pro245Ser) c.727C>T (p.Pro243Ser) c.565C>T (p.Pro189Ser) c.626-1869C>T (n.626-1869C>T) | |
| 3 | g.39394530C>A | CA352205466 | SLC25A38 | c.698C>A (p.Pro233Gln) c.695C>A (p.Pro232Gln) c.692C>A (p.Pro231Gln) c.*43C>A (n.*43C>A) c.746C>A (p.Pro249Gln) c.734C>A (p.Pro245Gln) c.728C>A (p.Pro243Gln) c.566C>A (p.Pro189Gln) c.626-1868C>A (n.626-1868C>A) | |
| 3 | g.39394530C>G | CA352205469 | SLC25A38 | c.698C>G (p.Pro233Arg) c.695C>G (p.Pro232Arg) c.692C>G (p.Pro231Arg) c.*43C>G (n.*43C>G) c.746C>G (p.Pro249Arg) c.734C>G (p.Pro245Arg) c.728C>G (p.Pro243Arg) c.566C>G (p.Pro189Arg) c.626-1868C>G (n.626-1868C>G) | gnomAD v4 |
| 3 | g.39394530C>T | CA352205477 | SLC25A38 | c.698C>T (p.Pro233Leu) c.695C>T (p.Pro232Leu) c.692C>T (p.Pro231Leu) c.*43C>T (n.*43C>T) c.746C>T (p.Pro249Leu) c.734C>T (p.Pro245Leu) c.728C>T (p.Pro243Leu) c.566C>T (p.Pro189Leu) c.626-1868C>T (n.626-1868C>T) | |
| 3 | g.39394531A= | CA1358939317 | SLC25A38 | c.699A= (p.Pro233=) c.696A= (p.Pro232=) c.693A= (p.Pro231=) c.*44A= (n.*44A=) c.747A= (p.Pro249=) c.735A= (p.Pro245=) c.729A= (p.Pro243=) c.567A= (p.Pro189=) c.626-1867A= (n.626-1867A=) | |
| 3 | g.39394531A>C | CA433164836 | SLC25A38 | c.699A>C (p.Pro233=) c.696A>C (p.Pro232=) c.693A>C (p.Pro231=) c.*44A>C (n.*44A>C) c.747A>C (p.Pro249=) c.735A>C (p.Pro245=) c.729A>C (p.Pro243=) c.567A>C (p.Pro189=) c.626-1867A>C (n.626-1867A>C) | |
| 3 | g.39394531A>G | CA433164838 | SLC25A38 | c.699A>G (p.Pro233=) c.696A>G (p.Pro232=) c.693A>G (p.Pro231=) c.*44A>G (n.*44A>G) c.747A>G (p.Pro249=) c.735A>G (p.Pro245=) c.729A>G (p.Pro243=) c.567A>G (p.Pro189=) c.626-1867A>G (n.626-1867A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394531A>T | CA433164839 | SLC25A38 | c.699A>T (p.Pro233=) c.696A>T (p.Pro232=) c.693A>T (p.Pro231=) c.*44A>T (n.*44A>T) c.747A>T (p.Pro249=) c.735A>T (p.Pro245=) c.729A>T (p.Pro243=) c.567A>T (p.Pro189=) c.626-1867A>T (n.626-1867A>T) | |
| 3 | g.39394532C>A | CA352205481 | SLC25A38 | c.700C>A (p.Leu234Met) c.697C>A (p.Leu233Met) c.694C>A (p.Leu232Met) c.*45C>A (n.*45C>A) c.748C>A (p.Leu250Met) c.736C>A (p.Leu246Met) c.730C>A (p.Leu244Met) c.568C>A (p.Leu190Met) c.626-1866C>A (n.626-1866C>A) | |
| 3 | g.39394532C>G | CA352205483 | SLC25A38 | c.700C>G (p.Leu234Val) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) c.*45C>G (n.*45C>G) c.748C>G (p.Leu250Val) c.736C>G (p.Leu246Val) c.730C>G (p.Leu244Val) c.568C>G (p.Leu190Val) c.626-1866C>G (n.626-1866C>G) | |
| 3 | g.39394532C>T | CA433164843 | SLC25A38 | c.700C>T (p.Leu234=) c.697C>T (p.Leu233=) c.694C>T (p.Leu232=) c.*45C>T (n.*45C>T) c.748C>T (p.Leu250=) c.736C>T (p.Leu246=) c.730C>T (p.Leu244=) c.568C>T (p.Leu190=) c.626-1866C>T (n.626-1866C>T) | |
| 3 | g.39394532_39394533delinsCT | CA1358939318 | SLC25A38 | c.700_701delinsCT (p.Leu234=) c.697_698delinsCT (p.Leu233=) c.694_695delinsCT (p.Leu232=) c.*45_*46delinsCT (n.*45_*46delinsCT) c.748_749delinsCT (p.Leu250=) c.736_737delinsCT (p.Leu246=) c.730_731delinsCT (p.Leu244=) c.568_569delinsCT (p.Leu190=) c.626-1866_626-1865delinsCT (n.626-1866_626-1865delinsCT) | |
| 3 | g.39394533del | CA913102802 | SLC25A38 | c.701del (p.Leu234ArgfsTer10) c.698del (p.Leu233ArgfsTer10) c.695del (p.Leu232ArgfsTer10) c.*46del (n.*46del) c.749del (p.Leu250ArgfsTer10) c.737del (p.Leu246ArgfsTer10) c.731del (p.Leu244ArgfsTer10) c.569del (p.Leu190ArgfsTer10) c.626-1865del (n.626-1865del) | dbSNP gnomAD v4 |
| 3 | g.39394533T>A | CA352205489 | SLC25A38 | c.701T>A (p.Leu234Gln) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) c.*46T>A (n.*46T>A) c.749T>A (p.Leu250Gln) c.737T>A (p.Leu246Gln) c.731T>A (p.Leu244Gln) c.569T>A (p.Leu190Gln) c.626-1865T>A (n.626-1865T>A) | |
| 3 | g.39394533T>C | CA352205497 | SLC25A38 | c.701T>C (p.Leu234Pro) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) c.*46T>C (n.*46T>C) c.749T>C (p.Leu250Pro) c.737T>C (p.Leu246Pro) c.731T>C (p.Leu244Pro) c.569T>C (p.Leu190Pro) c.626-1865T>C (n.626-1865T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394533T>G | CA352205492 | SLC25A38 | c.701T>G (p.Leu234Arg) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) c.*46T>G (n.*46T>G) c.749T>G (p.Leu250Arg) c.737T>G (p.Leu246Arg) c.731T>G (p.Leu244Arg) c.569T>G (p.Leu190Arg) c.626-1865T>G (n.626-1865T>G) | |
| 3 | g.39394533T= | CA1358939319 | SLC25A38 | c.701T= (p.Leu234=) c.698T= (p.Leu233=) c.695T= (p.Leu232=) c.*46T= (n.*46T=) c.749T= (p.Leu250=) c.737T= (p.Leu246=) c.731T= (p.Leu244=) c.569T= (p.Leu190=) c.626-1865T= (n.626-1865T=) | |
| 3 | g.39394534G>A | CA433164851 | SLC25A38 | c.702G>A (p.Leu234=) c.699G>A (p.Leu233=) c.696G>A (p.Leu232=) c.*47G>A (n.*47G>A) c.750G>A (p.Leu250=) c.738G>A (p.Leu246=) c.732G>A (p.Leu244=) c.570G>A (p.Leu190=) c.626-1864G>A (n.626-1864G>A) | gnomAD v4 |
| 3 | g.39394534G>C | CA433164849 | SLC25A38 | c.702G>C (p.Leu234=) c.699G>C (p.Leu233=) c.696G>C (p.Leu232=) c.*47G>C (n.*47G>C) c.750G>C (p.Leu250=) c.738G>C (p.Leu246=) c.732G>C (p.Leu244=) c.570G>C (p.Leu190=) c.626-1864G>C (n.626-1864G>C) | |
| 3 | g.39394534G>T | CA433164848 | SLC25A38 | c.702G>T (p.Leu234=) c.699G>T (p.Leu233=) c.696G>T (p.Leu232=) c.*47G>T (n.*47G>T) c.750G>T (p.Leu250=) c.738G>T (p.Leu246=) c.732G>T (p.Leu244=) c.570G>T (p.Leu190=) c.626-1864G>T (n.626-1864G>T) | |
| 3 | g.39394535A>C | CA352205502 | SLC25A38 | c.703A>C (p.Lys235Gln) c.700A>C (p.Lys234Gln) c.697A>C (p.Lys233Gln) c.*48A>C (n.*48A>C) c.751A>C (p.Lys251Gln) c.739A>C (p.Lys247Gln) c.733A>C (p.Lys245Gln) c.571A>C (p.Lys191Gln) c.626-1863A>C (n.626-1863A>C) | |
| 3 | g.39394535A>G | CA352205504 | SLC25A38 | c.703A>G (p.Lys235Glu) c.700A>G (p.Lys234Glu) c.697A>G (p.Lys233Glu) c.*48A>G (n.*48A>G) c.751A>G (p.Lys251Glu) c.739A>G (p.Lys247Glu) c.733A>G (p.Lys245Glu) c.571A>G (p.Lys191Glu) c.626-1863A>G (n.626-1863A>G) | |
| 3 | g.39394535A>T | CA352205505 | SLC25A38 | c.703A>T (p.Lys235Ter) c.700A>T (p.Lys234Ter) c.697A>T (p.Lys233Ter) c.*48A>T (n.*48A>T) c.751A>T (p.Lys251Ter) c.739A>T (p.Lys247Ter) c.733A>T (p.Lys245Ter) c.571A>T (p.Lys191Ter) c.626-1863A>T (n.626-1863A>T) | |
| 3 | g.39394536A= | CA1358939320 | SLC25A38 | c.704A= (p.Lys235=) c.701A= (p.Lys234=) c.698A= (p.Lys233=) c.*49A= (n.*49A=) c.752A= (p.Lys251=) c.740A= (p.Lys247=) c.734A= (p.Lys245=) c.572A= (p.Lys191=) c.626-1862A= (n.626-1862A=) | |
| 3 | g.39394536A>C | CA352205506 | SLC25A38 | c.704A>C (p.Lys235Thr) c.701A>C (p.Lys234Thr) c.698A>C (p.Lys233Thr) c.*49A>C (n.*49A>C) c.752A>C (p.Lys251Thr) c.740A>C (p.Lys247Thr) c.734A>C (p.Lys245Thr) c.572A>C (p.Lys191Thr) c.626-1862A>C (n.626-1862A>C) | |
| 3 | g.39394536A>G | CA2327541 | SLC25A38 | c.704A>G (p.Lys235Arg) c.701A>G (p.Lys234Arg) c.698A>G (p.Lys233Arg) c.*49A>G (n.*49A>G) c.752A>G (p.Lys251Arg) c.740A>G (p.Lys247Arg) c.734A>G (p.Lys245Arg) c.572A>G (p.Lys191Arg) c.626-1862A>G (n.626-1862A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394536A>T | CA352205508 | SLC25A38 | c.704A>T (p.Lys235Met) c.701A>T (p.Lys234Met) c.698A>T (p.Lys233Met) c.*49A>T (n.*49A>T) c.752A>T (p.Lys251Met) c.740A>T (p.Lys247Met) c.734A>T (p.Lys245Met) c.572A>T (p.Lys191Met) c.626-1862A>T (n.626-1862A>T) | |
| 3 | g.39394537G>A | CA433164858 | SLC25A38 | c.705G>A (p.Lys235=) c.702G>A (p.Lys234=) c.699G>A (p.Lys233=) c.*50G>A (n.*50G>A) c.753G>A (p.Lys251=) c.741G>A (p.Lys247=) c.735G>A (p.Lys245=) c.573G>A (p.Lys191=) c.626-1861G>A (n.626-1861G>A) | |
| 3 | g.39394537G>C | CA352205513 | SLC25A38 | c.705G>C (p.Lys235Asn) c.702G>C (p.Lys234Asn) c.699G>C (p.Lys233Asn) c.*50G>C (n.*50G>C) c.753G>C (p.Lys251Asn) c.741G>C (p.Lys247Asn) c.735G>C (p.Lys245Asn) c.573G>C (p.Lys191Asn) c.626-1861G>C (n.626-1861G>C) | |
| 3 | g.39394537G>T | CA352205518 | SLC25A38 | c.705G>T (p.Lys235Asn) c.702G>T (p.Lys234Asn) c.699G>T (p.Lys233Asn) c.*50G>T (n.*50G>T) c.753G>T (p.Lys251Asn) c.741G>T (p.Lys247Asn) c.735G>T (p.Lys245Asn) c.573G>T (p.Lys191Asn) c.626-1861G>T (n.626-1861G>T) | |
| 3 | g.39394538T>A | CA352205519 | SLC25A38 | c.706T>A (p.Phe236Ile) c.703T>A (p.Phe235Ile) c.700T>A (p.Phe234Ile) c.*51T>A (n.*51T>A) c.754T>A (p.Phe252Ile) c.742T>A (p.Phe248Ile) c.736T>A (p.Phe246Ile) c.574T>A (p.Phe192Ile) c.626-1860T>A (n.626-1860T>A) | |
| 3 | g.39394538T>C | CA352205522 | SLC25A38 | c.706T>C (p.Phe236Leu) c.703T>C (p.Phe235Leu) c.700T>C (p.Phe234Leu) c.*51T>C (n.*51T>C) c.754T>C (p.Phe252Leu) c.742T>C (p.Phe248Leu) c.736T>C (p.Phe246Leu) c.574T>C (p.Phe192Leu) c.626-1860T>C (n.626-1860T>C) | |
| 3 | g.39394538T>G | CA352205539 | SLC25A38 | c.706T>G (p.Phe236Val) c.703T>G (p.Phe235Val) c.700T>G (p.Phe234Val) c.*51T>G (n.*51T>G) c.754T>G (p.Phe252Val) c.742T>G (p.Phe248Val) c.736T>G (p.Phe246Val) c.574T>G (p.Phe192Val) c.626-1860T>G (n.626-1860T>G) | |
| 3 | g.39394539T>A | CA352205546 | SLC25A38 | c.707T>A (p.Phe236Tyr) c.704T>A (p.Phe235Tyr) c.701T>A (p.Phe234Tyr) c.*52T>A (n.*52T>A) c.755T>A (p.Phe252Tyr) c.743T>A (p.Phe248Tyr) c.737T>A (p.Phe246Tyr) c.575T>A (p.Phe192Tyr) c.626-1859T>A (n.626-1859T>A) | |
| 3 | g.39394539T>C | CA352205542 | SLC25A38 | c.707T>C (p.Phe236Ser) c.704T>C (p.Phe235Ser) c.701T>C (p.Phe234Ser) c.*52T>C (n.*52T>C) c.755T>C (p.Phe252Ser) c.743T>C (p.Phe248Ser) c.737T>C (p.Phe246Ser) c.575T>C (p.Phe192Ser) c.626-1859T>C (n.626-1859T>C) | |
| 3 | g.39394539T>G | CA352205545 | SLC25A38 | c.707T>G (p.Phe236Cys) c.704T>G (p.Phe235Cys) c.701T>G (p.Phe234Cys) c.*52T>G (n.*52T>G) c.755T>G (p.Phe252Cys) c.743T>G (p.Phe248Cys) c.737T>G (p.Phe246Cys) c.575T>G (p.Phe192Cys) c.626-1859T>G (n.626-1859T>G) | |
| 3 | g.39394540T>A | CA352205547 | SLC25A38 | c.708T>A (p.Phe236Leu) c.705T>A (p.Phe235Leu) c.702T>A (p.Phe234Leu) c.*53T>A (n.*53T>A) c.756T>A (p.Phe252Leu) c.744T>A (p.Phe248Leu) c.738T>A (p.Phe246Leu) c.576T>A (p.Phe192Leu) c.626-1858T>A (n.626-1858T>A) | |
| 3 | g.39394540T>C | CA433164870 | SLC25A38 | c.708T>C (p.Phe236=) c.705T>C (p.Phe235=) c.702T>C (p.Phe234=) c.*53T>C (n.*53T>C) c.756T>C (p.Phe252=) c.744T>C (p.Phe248=) c.738T>C (p.Phe246=) c.576T>C (p.Phe192=) c.626-1858T>C (n.626-1858T>C) | |
| 3 | g.39394540T>G | CA352205549 | SLC25A38 | c.708T>G (p.Phe236Leu) c.705T>G (p.Phe235Leu) c.702T>G (p.Phe234Leu) c.*53T>G (n.*53T>G) c.756T>G (p.Phe252Leu) c.744T>G (p.Phe248Leu) c.738T>G (p.Phe246Leu) c.576T>G (p.Phe192Leu) c.626-1858T>G (n.626-1858T>G) | |
| 3 | g.39394541C>A | CA352205552 | SLC25A38 | c.709C>A (p.Gln237Lys) c.706C>A (p.Gln236Lys) c.703C>A (p.Gln235Lys) c.*54C>A (n.*54C>A) c.757C>A (p.Gln253Lys) c.745C>A (p.Gln249Lys) c.739C>A (p.Gln247Lys) c.577C>A (p.Gln193Lys) c.626-1857C>A (n.626-1857C>A) | |
| 3 | g.39394541C= | CA1358939321 | SLC25A38 | c.709C= (p.Gln237=) c.706C= (p.Gln236=) c.703C= (p.Gln235=) c.*54C= (n.*54C=) c.757C= (p.Gln253=) c.745C= (p.Gln249=) c.739C= (p.Gln247=) c.577C= (p.Gln193=) c.626-1857C= (n.626-1857C=) | |
| 3 | g.39394541C>G | CA352205559 | SLC25A38 | c.709C>G (p.Gln237Glu) c.706C>G (p.Gln236Glu) c.703C>G (p.Gln235Glu) c.*54C>G (n.*54C>G) c.757C>G (p.Gln253Glu) c.745C>G (p.Gln249Glu) c.739C>G (p.Gln247Glu) c.577C>G (p.Gln193Glu) c.626-1857C>G (n.626-1857C>G) | |
| 3 | g.39394541C>T | CA352205563 | SLC25A38 | c.709C>T (p.Gln237Ter) c.706C>T (p.Gln236Ter) c.703C>T (p.Gln235Ter) c.*54C>T (n.*54C>T) c.757C>T (p.Gln253Ter) c.745C>T (p.Gln249Ter) c.739C>T (p.Gln247Ter) c.577C>T (p.Gln193Ter) c.626-1857C>T (n.626-1857C>T) | dbSNP gnomAD v4 |
| 3 | g.39394542A>C | CA352205577 | SLC25A38 | c.710A>C (p.Gln237Pro) c.707A>C (p.Gln236Pro) c.704A>C (p.Gln235Pro) c.*55A>C (n.*55A>C) c.758A>C (p.Gln253Pro) c.746A>C (p.Gln249Pro) c.740A>C (p.Gln247Pro) c.578A>C (p.Gln193Pro) c.626-1856A>C (n.626-1856A>C) | |
| 3 | g.39394542A>G | CA352205581 | SLC25A38 | c.710A>G (p.Gln237Arg) c.707A>G (p.Gln236Arg) c.704A>G (p.Gln235Arg) c.*55A>G (n.*55A>G) c.758A>G (p.Gln253Arg) c.746A>G (p.Gln249Arg) c.740A>G (p.Gln247Arg) c.578A>G (p.Gln193Arg) c.626-1856A>G (n.626-1856A>G) | |
| 3 | g.39394542A>T | CA352205584 | SLC25A38 | c.710A>T (p.Gln237Leu) c.707A>T (p.Gln236Leu) c.704A>T (p.Gln235Leu) c.*55A>T (n.*55A>T) c.758A>T (p.Gln253Leu) c.746A>T (p.Gln249Leu) c.740A>T (p.Gln247Leu) c.578A>T (p.Gln193Leu) c.626-1856A>T (n.626-1856A>T) | |
| 3 | g.39394543A= | CA1358939322 | SLC25A38 | c.711A= (p.Gln237=) c.708A= (p.Gln236=) c.705A= (p.Gln235=) c.*56A= (n.*56A=) c.759A= (p.Gln253=) c.747A= (p.Gln249=) c.741A= (p.Gln247=) c.579A= (p.Gln193=) c.626-1855A= (n.626-1855A=) | |
| 3 | g.39394543A>C | CA352205589 | SLC25A38 | c.711A>C (p.Gln237His) c.708A>C (p.Gln236His) c.705A>C (p.Gln235His) c.*56A>C (n.*56A>C) c.759A>C (p.Gln253His) c.747A>C (p.Gln249His) c.741A>C (p.Gln247His) c.579A>C (p.Gln193His) c.626-1855A>C (n.626-1855A>C) | |
| 3 | g.39394543A>G | CA2327542 | SLC25A38 | c.711A>G (p.Gln237=) c.708A>G (p.Gln236=) c.705A>G (p.Gln235=) c.*56A>G (n.*56A>G) c.759A>G (p.Gln253=) c.747A>G (p.Gln249=) c.741A>G (p.Gln247=) c.579A>G (p.Gln193=) c.626-1855A>G (n.626-1855A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394543A>T | CA352205598 | SLC25A38 | c.711A>T (p.Gln237His) c.708A>T (p.Gln236His) c.705A>T (p.Gln235His) c.*56A>T (n.*56A>T) c.759A>T (p.Gln253His) c.747A>T (p.Gln249His) c.741A>T (p.Gln247His) c.579A>T (p.Gln193His) c.626-1855A>T (n.626-1855A>T) | |
| 3 | g.39394544T>A | CA352205611 | SLC25A38 | c.712T>A (p.Trp238Arg) c.709T>A (p.Trp237Arg) c.706T>A (p.Trp236Arg) c.*57T>A (n.*57T>A) c.760T>A (p.Trp254Arg) c.748T>A (p.Trp250Arg) c.742T>A (p.Trp248Arg) c.580T>A (p.Trp194Arg) c.626-1854T>A (n.626-1854T>A) | |
| 3 | g.39394544T>C | CA2327543 | SLC25A38 | c.712T>C (p.Trp238Arg) c.709T>C (p.Trp237Arg) c.706T>C (p.Trp236Arg) c.*57T>C (n.*57T>C) c.760T>C (p.Trp254Arg) c.748T>C (p.Trp250Arg) c.742T>C (p.Trp248Arg) c.580T>C (p.Trp194Arg) c.626-1854T>C (n.626-1854T>C) | dbSNP ExAC gnomAD v2 |
| 3 | g.39394544T>G | CA352205604 | SLC25A38 | c.712T>G (p.Trp238Gly) c.709T>G (p.Trp237Gly) c.706T>G (p.Trp236Gly) c.*57T>G (n.*57T>G) c.760T>G (p.Trp254Gly) c.748T>G (p.Trp250Gly) c.742T>G (p.Trp248Gly) c.580T>G (p.Trp194Gly) c.626-1854T>G (n.626-1854T>G) | |
| 3 | g.39394544T= | CA1358939323 | SLC25A38 | c.712T= (p.Trp238=) c.709T= (p.Trp237=) c.706T= (p.Trp236=) c.*57T= (n.*57T=) c.760T= (p.Trp254=) c.748T= (p.Trp250=) c.742T= (p.Trp248=) c.580T= (p.Trp194=) c.626-1854T= (n.626-1854T=) | |
| 3 | g.39394545G>A | CA352205619 | SLC25A38 | c.713G>A (p.Trp238Ter) c.710G>A (p.Trp237Ter) c.707G>A (p.Trp236Ter) c.*58G>A (n.*58G>A) c.761G>A (p.Trp254Ter) c.749G>A (p.Trp250Ter) c.743G>A (p.Trp248Ter) c.581G>A (p.Trp194Ter) c.626-1853G>A (n.626-1853G>A) | |
| 3 | g.39394545G>C | CA352205616 | SLC25A38 | c.713G>C (p.Trp238Ser) c.710G>C (p.Trp237Ser) c.707G>C (p.Trp236Ser) c.*58G>C (n.*58G>C) c.761G>C (p.Trp254Ser) c.749G>C (p.Trp250Ser) c.743G>C (p.Trp248Ser) c.581G>C (p.Trp194Ser) c.626-1853G>C (n.626-1853G>C) | |
| 3 | g.39394545G>T | CA352205617 | SLC25A38 | c.713G>T (p.Trp238Leu) c.710G>T (p.Trp237Leu) c.707G>T (p.Trp236Leu) c.*58G>T (n.*58G>T) c.761G>T (p.Trp254Leu) c.749G>T (p.Trp250Leu) c.743G>T (p.Trp248Leu) c.581G>T (p.Trp194Leu) c.626-1853G>T (n.626-1853G>T) | |
| 3 | g.39394546G>A | CA352205621 | SLC25A38 | c.714G>A (p.Trp238Ter) c.711G>A (p.Trp237Ter) c.708G>A (p.Trp236Ter) c.*59G>A (n.*59G>A) c.762G>A (p.Trp254Ter) c.750G>A (p.Trp250Ter) c.744G>A (p.Trp248Ter) c.582G>A (p.Trp194Ter) c.626-1852G>A (n.626-1852G>A) | |
| 3 | g.39394546G>C | CA352205623 | SLC25A38 | c.714G>C (p.Trp238Cys) c.711G>C (p.Trp237Cys) c.708G>C (p.Trp236Cys) c.*59G>C (n.*59G>C) c.762G>C (p.Trp254Cys) c.750G>C (p.Trp250Cys) c.744G>C (p.Trp248Cys) c.582G>C (p.Trp194Cys) c.626-1852G>C (n.626-1852G>C) | |
| 3 | g.39394546G>T | CA352205627 | SLC25A38 | c.714G>T (p.Trp238Cys) c.711G>T (p.Trp237Cys) c.708G>T (p.Trp236Cys) c.*59G>T (n.*59G>T) c.762G>T (p.Trp254Cys) c.750G>T (p.Trp250Cys) c.744G>T (p.Trp248Cys) c.582G>T (p.Trp194Cys) c.626-1852G>T (n.626-1852G>T) | |
| 3 | g.39394547A>C | CA352205631 | SLC25A38 | c.715A>C (p.Ile239Leu) c.712A>C (p.Ile238Leu) c.709A>C (p.Ile237Leu) c.*60A>C (n.*60A>C) c.763A>C (p.Ile255Leu) c.751A>C (p.Ile251Leu) c.745A>C (p.Ile249Leu) c.583A>C (p.Ile195Leu) c.626-1851A>C (n.626-1851A>C) | |
| 3 | g.39394547A>G | CA352205634 | SLC25A38 | c.715A>G (p.Ile239Val) c.712A>G (p.Ile238Val) c.709A>G (p.Ile237Val) c.*60A>G (n.*60A>G) c.763A>G (p.Ile255Val) c.751A>G (p.Ile251Val) c.745A>G (p.Ile249Val) c.583A>G (p.Ile195Val) c.626-1851A>G (n.626-1851A>G) | |
| 3 | g.39394547A>T | CA352205638 | SLC25A38 | c.715A>T (p.Ile239Phe) c.712A>T (p.Ile238Phe) c.709A>T (p.Ile237Phe) c.*60A>T (n.*60A>T) c.763A>T (p.Ile255Phe) c.751A>T (p.Ile251Phe) c.745A>T (p.Ile249Phe) c.583A>T (p.Ile195Phe) c.626-1851A>T (n.626-1851A>T) | |
| 3 | g.39394548T>A | CA352205639 | SLC25A38 | c.716T>A (p.Ile239Asn) c.713T>A (p.Ile238Asn) c.710T>A (p.Ile237Asn) c.*61T>A (n.*61T>A) c.764T>A (p.Ile255Asn) c.752T>A (p.Ile251Asn) c.746T>A (p.Ile249Asn) c.584T>A (p.Ile195Asn) c.626-1850T>A (n.626-1850T>A) | |
| 3 | g.39394548T>C | CA352205640 | SLC25A38 | c.716T>C (p.Ile239Thr) c.713T>C (p.Ile238Thr) c.710T>C (p.Ile237Thr) c.*61T>C (n.*61T>C) c.764T>C (p.Ile255Thr) c.752T>C (p.Ile251Thr) c.746T>C (p.Ile249Thr) c.584T>C (p.Ile195Thr) c.626-1850T>C (n.626-1850T>C) | dbSNP gnomAD v4 |
| 3 | g.39394548T>G | CA352205641 | SLC25A38 | c.716T>G (p.Ile239Ser) c.713T>G (p.Ile238Ser) c.710T>G (p.Ile237Ser) c.*61T>G (n.*61T>G) c.764T>G (p.Ile255Ser) c.752T>G (p.Ile251Ser) c.746T>G (p.Ile249Ser) c.584T>G (p.Ile195Ser) c.626-1850T>G (n.626-1850T>G) | |
| 3 | g.39394548T= | CA1358939324 | SLC25A38 | c.716T= (p.Ile239=) c.713T= (p.Ile238=) c.710T= (p.Ile237=) c.*61T= (n.*61T=) c.764T= (p.Ile255=) c.752T= (p.Ile251=) c.746T= (p.Ile249=) c.584T= (p.Ile195=) c.626-1850T= (n.626-1850T=) | |
| 3 | g.39394549T>A | CA433164900 | SLC25A38 | c.717T>A (p.Ile239=) c.714T>A (p.Ile238=) c.711T>A (p.Ile237=) c.*62T>A (n.*62T>A) c.765T>A (p.Ile255=) c.753T>A (p.Ile251=) c.747T>A (p.Ile249=) c.585T>A (p.Ile195=) c.626-1849T>A (n.626-1849T>A) | |
| 3 | g.39394549T>C | CA433164901 | SLC25A38 | c.717T>C (p.Ile239=) c.714T>C (p.Ile238=) c.711T>C (p.Ile237=) c.*62T>C (n.*62T>C) c.765T>C (p.Ile255=) c.753T>C (p.Ile251=) c.747T>C (p.Ile249=) c.585T>C (p.Ile195=) c.626-1849T>C (n.626-1849T>C) | |
| 3 | g.39394549T>G | CA352205642 | SLC25A38 | c.717T>G (p.Ile239Met) c.714T>G (p.Ile238Met) c.711T>G (p.Ile237Met) c.*62T>G (n.*62T>G) c.765T>G (p.Ile255Met) c.753T>G (p.Ile251Met) c.747T>G (p.Ile249Met) c.585T>G (p.Ile195Met) c.626-1849T>G (n.626-1849T>G) | |
| 3 | g.39394550G>A | CA352205654 | SLC25A38 | c.718G>A (p.Gly240Ser) c.715G>A (p.Gly239Ser) c.712G>A (p.Gly238Ser) c.*63G>A (n.*63G>A) c.766G>A (p.Gly256Ser) c.754G>A (p.Gly252Ser) c.748G>A (p.Gly250Ser) c.586G>A (p.Gly196Ser) c.626-1848G>A (n.626-1848G>A) | |
| 3 | g.39394550G>C | CA352205646 | SLC25A38 | c.718G>C (p.Gly240Arg) c.715G>C (p.Gly239Arg) c.712G>C (p.Gly238Arg) c.*63G>C (n.*63G>C) c.766G>C (p.Gly256Arg) c.754G>C (p.Gly252Arg) c.748G>C (p.Gly250Arg) c.586G>C (p.Gly196Arg) c.626-1848G>C (n.626-1848G>C) | |
| 3 | g.39394550G>T | CA352205651 | SLC25A38 | c.718G>T (p.Gly240Cys) c.715G>T (p.Gly239Cys) c.712G>T (p.Gly238Cys) c.*63G>T (n.*63G>T) c.766G>T (p.Gly256Cys) c.754G>T (p.Gly252Cys) c.748G>T (p.Gly250Cys) c.586G>T (p.Gly196Cys) c.626-1848G>T (n.626-1848G>T) | |
| 3 | g.39394551G>A | CA352205658 | SLC25A38 | c.719G>A (p.Gly240Asp) c.716G>A (p.Gly239Asp) c.713G>A (p.Gly238Asp) c.*64G>A (n.*64G>A) c.767G>A (p.Gly256Asp) c.755G>A (p.Gly252Asp) c.749G>A (p.Gly250Asp) c.587G>A (p.Gly196Asp) c.626-1847G>A (n.626-1847G>A) | COSMIC |
| 3 | g.39394551G>C | CA352205665 | SLC25A38 | c.719G>C (p.Gly240Ala) c.716G>C (p.Gly239Ala) c.713G>C (p.Gly238Ala) c.*64G>C (n.*64G>C) c.767G>C (p.Gly256Ala) c.755G>C (p.Gly252Ala) c.749G>C (p.Gly250Ala) c.587G>C (p.Gly196Ala) c.626-1847G>C (n.626-1847G>C) | |
| 3 | g.39394551G>T | CA352205668 | SLC25A38 | c.719G>T (p.Gly240Val) c.716G>T (p.Gly239Val) c.713G>T (p.Gly238Val) c.*64G>T (n.*64G>T) c.767G>T (p.Gly256Val) c.755G>T (p.Gly252Val) c.749G>T (p.Gly250Val) c.587G>T (p.Gly196Val) c.626-1847G>T (n.626-1847G>T) | |
| 3 | g.39394552C>A | CA433164908 | SLC25A38 | c.720C>A (p.Gly240=) c.717C>A (p.Gly239=) c.714C>A (p.Gly238=) c.*65C>A (n.*65C>A) c.768C>A (p.Gly256=) c.756C>A (p.Gly252=) c.750C>A (p.Gly250=) c.588C>A (p.Gly196=) c.626-1846C>A (n.626-1846C>A) | |
| 3 | g.39394552C>G | CA433164910 | SLC25A38 | c.720C>G (p.Gly240=) c.717C>G (p.Gly239=) c.714C>G (p.Gly238=) c.*65C>G (n.*65C>G) c.768C>G (p.Gly256=) c.756C>G (p.Gly252=) c.750C>G (p.Gly250=) c.588C>G (p.Gly196=) c.626-1846C>G (n.626-1846C>G) | |
| 3 | g.39394552C>T | CA433164912 | SLC25A38 | c.720C>T (p.Gly240=) c.717C>T (p.Gly239=) c.714C>T (p.Gly238=) c.*65C>T (n.*65C>T) c.768C>T (p.Gly256=) c.756C>T (p.Gly252=) c.750C>T (p.Gly250=) c.588C>T (p.Gly196=) c.626-1846C>T (n.626-1846C>T) | |
| 3 | g.39394553C>A | CA352205672 | SLC25A38 | c.721C>A (p.Gln241Lys) c.718C>A (p.Gln240Lys) c.715C>A (p.Gln239Lys) c.*66C>A (n.*66C>A) c.769C>A (p.Gln257Lys) c.757C>A (p.Gln253Lys) c.751C>A (p.Gln251Lys) c.589C>A (p.Gln197Lys) c.626-1845C>A (n.626-1845C>A) | |
| 3 | g.39394553C>G | CA352205673 | SLC25A38 | c.721C>G (p.Gln241Glu) c.718C>G (p.Gln240Glu) c.715C>G (p.Gln239Glu) c.*66C>G (n.*66C>G) c.769C>G (p.Gln257Glu) c.757C>G (p.Gln253Glu) c.751C>G (p.Gln251Glu) c.589C>G (p.Gln197Glu) c.626-1845C>G (n.626-1845C>G) | |
| 3 | g.39394553C>T | CA352205674 | SLC25A38 | c.721C>T (p.Gln241Ter) c.718C>T (p.Gln240Ter) c.715C>T (p.Gln239Ter) c.*66C>T (n.*66C>T) c.769C>T (p.Gln257Ter) c.757C>T (p.Gln253Ter) c.751C>T (p.Gln251Ter) c.589C>T (p.Gln197Ter) c.626-1845C>T (n.626-1845C>T) | |
| 3 | g.39394554A>C | CA352205676 | SLC25A38 | c.722A>C (p.Gln241Pro) c.719A>C (p.Gln240Pro) c.716A>C (p.Gln239Pro) c.*67A>C (n.*67A>C) c.770A>C (p.Gln257Pro) c.758A>C (p.Gln253Pro) c.752A>C (p.Gln251Pro) c.590A>C (p.Gln197Pro) c.626-1844A>C (n.626-1844A>C) | |
| 3 | g.39394554A>G | CA352205678 | SLC25A38 | c.722A>G (p.Gln241Arg) c.719A>G (p.Gln240Arg) c.716A>G (p.Gln239Arg) c.*67A>G (n.*67A>G) c.770A>G (p.Gln257Arg) c.758A>G (p.Gln253Arg) c.752A>G (p.Gln251Arg) c.590A>G (p.Gln197Arg) c.626-1844A>G (n.626-1844A>G) | |
| 3 | g.39394554A>T | CA352205680 | SLC25A38 | c.722A>T (p.Gln241Leu) c.719A>T (p.Gln240Leu) c.716A>T (p.Gln239Leu) c.*67A>T (n.*67A>T) c.770A>T (p.Gln257Leu) c.758A>T (p.Gln253Leu) c.752A>T (p.Gln251Leu) c.590A>T (p.Gln197Leu) c.626-1844A>T (n.626-1844A>T) | |
| 3 | g.39394555A>C | CA352205688 | SLC25A38 | c.723A>C (p.Gln241His) c.720A>C (p.Gln240His) c.717A>C (p.Gln239His) c.*68A>C (n.*68A>C) c.771A>C (p.Gln257His) c.759A>C (p.Gln253His) c.753A>C (p.Gln251His) c.591A>C (p.Gln197His) c.626-1843A>C (n.626-1843A>C) | |
| 3 | g.39394555A>G | CA433164919 | SLC25A38 | c.723A>G (p.Gln241=) c.720A>G (p.Gln240=) c.717A>G (p.Gln239=) c.*68A>G (n.*68A>G) c.771A>G (p.Gln257=) c.759A>G (p.Gln253=) c.753A>G (p.Gln251=) c.591A>G (p.Gln197=) c.626-1843A>G (n.626-1843A>G) | |
| 3 | g.39394555A>T | CA352205692 | SLC25A38 | c.723A>T (p.Gln241His) c.720A>T (p.Gln240His) c.717A>T (p.Gln239His) c.*68A>T (n.*68A>T) c.771A>T (p.Gln257His) c.759A>T (p.Gln253His) c.753A>T (p.Gln251His) c.591A>T (p.Gln197His) c.626-1843A>T (n.626-1843A>T) | |
| 3 | g.39394556G>A | CA352205694 | SLC25A38 | c.724G>A (p.Ala242Thr) c.721G>A (p.Ala241Thr) c.718G>A (p.Ala240Thr) c.*69G>A (n.*69G>A) c.772G>A (p.Ala258Thr) c.760G>A (p.Ala254Thr) c.754G>A (p.Ala252Thr) c.592G>A (p.Ala198Thr) c.626-1842G>A (n.626-1842G>A) | gnomAD v4 |
| 3 | g.39394556G>C | CA352205695 | SLC25A38 | c.724G>C (p.Ala242Pro) c.721G>C (p.Ala241Pro) c.718G>C (p.Ala240Pro) c.*69G>C (n.*69G>C) c.772G>C (p.Ala258Pro) c.760G>C (p.Ala254Pro) c.754G>C (p.Ala252Pro) c.592G>C (p.Ala198Pro) c.626-1842G>C (n.626-1842G>C) | |
| 3 | g.39394556G>T | CA352205693 | SLC25A38 | c.724G>T (p.Ala242Ser) c.721G>T (p.Ala241Ser) c.718G>T (p.Ala240Ser) c.*69G>T (n.*69G>T) c.772G>T (p.Ala258Ser) c.760G>T (p.Ala254Ser) c.754G>T (p.Ala252Ser) c.592G>T (p.Ala198Ser) c.626-1842G>T (n.626-1842G>T) | |
| 3 | g.39394557C>A | CA352205699 | SLC25A38 | c.725C>A (p.Ala242Glu) c.722C>A (p.Ala241Glu) c.719C>A (p.Ala240Glu) c.*70C>A (n.*70C>A) c.773C>A (p.Ala258Glu) c.761C>A (p.Ala254Glu) c.755C>A (p.Ala252Glu) c.593C>A (p.Ala198Glu) c.626-1841C>A (n.626-1841C>A) | |
| 3 | g.39394557C>G | CA352205708 | SLC25A38 | c.725C>G (p.Ala242Gly) c.722C>G (p.Ala241Gly) c.719C>G (p.Ala240Gly) c.*70C>G (n.*70C>G) c.773C>G (p.Ala258Gly) c.761C>G (p.Ala254Gly) c.755C>G (p.Ala252Gly) c.593C>G (p.Ala198Gly) c.626-1841C>G (n.626-1841C>G) | |
| 3 | g.39394557C>T | CA352205711 | SLC25A38 | c.725C>T (p.Ala242Val) c.722C>T (p.Ala241Val) c.719C>T (p.Ala240Val) c.*70C>T (n.*70C>T) c.773C>T (p.Ala258Val) c.761C>T (p.Ala254Val) c.755C>T (p.Ala252Val) c.593C>T (p.Ala198Val) c.626-1841C>T (n.626-1841C>T) | |
| 3 | g.39394558A>C | CA433164930 | SLC25A38 | c.726A>C (p.Ala242=) c.723A>C (p.Ala241=) c.720A>C (p.Ala240=) c.*71A>C (n.*71A>C) c.774A>C (p.Ala258=) c.762A>C (p.Ala254=) c.756A>C (p.Ala252=) c.594A>C (p.Ala198=) c.626-1840A>C (n.626-1840A>C) | |
| 3 | g.39394558A>G | CA433164932 | SLC25A38 | c.726A>G (p.Ala242=) c.723A>G (p.Ala241=) c.720A>G (p.Ala240=) c.*71A>G (n.*71A>G) c.774A>G (p.Ala258=) c.762A>G (p.Ala254=) c.756A>G (p.Ala252=) c.594A>G (p.Ala198=) c.626-1840A>G (n.626-1840A>G) | |
| 3 | g.39394558A>T | CA433164934 | SLC25A38 | c.726A>T (p.Ala242=) c.723A>T (p.Ala241=) c.720A>T (p.Ala240=) c.*71A>T (n.*71A>T) c.774A>T (p.Ala258=) c.762A>T (p.Ala254=) c.756A>T (p.Ala252=) c.594A>T (p.Ala198=) c.626-1840A>T (n.626-1840A>T) | |
| 3 | g.39394559G>A | CA352205712 | SLC25A38 | c.727G>A (p.Val243Met) c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) c.*72G>A (n.*72G>A) c.775G>A (p.Val259Met) c.763G>A (p.Val255Met) c.757G>A (p.Val253Met) c.595G>A (p.Val199Met) c.626-1839G>A (n.626-1839G>A) | |
| 3 | g.39394559G>C | CA352205713 | SLC25A38 | c.727G>C (p.Val243Leu) c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) c.*72G>C (n.*72G>C) c.775G>C (p.Val259Leu) c.763G>C (p.Val255Leu) c.757G>C (p.Val253Leu) c.595G>C (p.Val199Leu) c.626-1839G>C (n.626-1839G>C) | |
| 3 | g.39394559G>T | CA352205714 | SLC25A38 | c.727G>T (p.Val243Leu) c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) c.*72G>T (n.*72G>T) c.775G>T (p.Val259Leu) c.763G>T (p.Val255Leu) c.757G>T (p.Val253Leu) c.595G>T (p.Val199Leu) c.626-1839G>T (n.626-1839G>T) | |
| 3 | g.39394560T>A | CA352205717 | SLC25A38 | c.728T>A (p.Val243Glu) c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) c.*73T>A (n.*73T>A) c.776T>A (p.Val259Glu) c.764T>A (p.Val255Glu) c.758T>A (p.Val253Glu) c.596T>A (p.Val199Glu) c.626-1838T>A (n.626-1838T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394560T>C | CA352205718 | SLC25A38 | c.728T>C (p.Val243Ala) c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) c.*73T>C (n.*73T>C) c.776T>C (p.Val259Ala) c.764T>C (p.Val255Ala) c.758T>C (p.Val253Ala) c.596T>C (p.Val199Ala) c.626-1838T>C (n.626-1838T>C) | |
| 3 | g.39394560T>G | CA352205720 | SLC25A38 | c.728T>G (p.Val243Gly) c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) c.*73T>G (n.*73T>G) c.776T>G (p.Val259Gly) c.764T>G (p.Val255Gly) c.758T>G (p.Val253Gly) c.596T>G (p.Val199Gly) c.626-1838T>G (n.626-1838T>G) | |
| 3 | g.39394560T= | CA1358939325 | SLC25A38 | c.728T= (p.Val243=) c.725T= (p.Val242=) c.722T= (p.Val241=) c.*73T= (n.*73T=) c.776T= (p.Val259=) c.764T= (p.Val255=) c.758T= (p.Val253=) c.596T= (p.Val199=) c.626-1838T= (n.626-1838T=) | |
| 3 | g.39394561G>A | CA433164943 | SLC25A38 | c.729G>A (p.Val243=) c.726G>A (p.Val242=) c.723G>A (p.Val241=) c.*74G>A (n.*74G>A) c.777G>A (p.Val259=) c.765G>A (p.Val255=) c.759G>A (p.Val253=) c.597G>A (p.Val199=) c.626-1837G>A (n.626-1837G>A) | dbSNP |
| 3 | g.39394561G>C | CA433164946 | SLC25A38 | c.729G>C (p.Val243=) c.726G>C (p.Val242=) c.723G>C (p.Val241=) c.*74G>C (n.*74G>C) c.777G>C (p.Val259=) c.765G>C (p.Val255=) c.759G>C (p.Val253=) c.597G>C (p.Val199=) c.626-1837G>C (n.626-1837G>C) | |
| 3 | g.39394561G= | CA1358939326 | SLC25A38 | c.729G= (p.Val243=) c.726G= (p.Val242=) c.723G= (p.Val241=) c.*74G= (n.*74G=) c.777G= (p.Val259=) c.765G= (p.Val255=) c.759G= (p.Val253=) c.597G= (p.Val199=) c.626-1837G= (n.626-1837G=) | |
| 3 | g.39394561G>T | CA433164945 | SLC25A38 | c.729G>T (p.Val243=) c.726G>T (p.Val242=) c.723G>T (p.Val241=) c.*74G>T (n.*74G>T) c.777G>T (p.Val259=) c.765G>T (p.Val255=) c.759G>T (p.Val253=) c.597G>T (p.Val199=) c.626-1837G>T (n.626-1837G>T) | |
| 3 | g.39394562A= | CA1358939327 | SLC25A38 | c.730A= (p.Thr244=) c.727A= (p.Thr243=) c.724A= (p.Thr242=) c.*75A= (n.*75A=) c.778A= (p.Thr260=) c.766A= (p.Thr256=) c.760A= (p.Thr254=) c.598A= (p.Thr200=) c.626-1836A= (n.626-1836A=) | |
| 3 | g.39394562A>C | CA352205736 | SLC25A38 | c.730A>C (p.Thr244Pro) c.727A>C (p.Thr243Pro) c.724A>C (p.Thr242Pro) c.*75A>C (n.*75A>C) c.778A>C (p.Thr260Pro) c.766A>C (p.Thr256Pro) c.760A>C (p.Thr254Pro) c.598A>C (p.Thr200Pro) c.626-1836A>C (n.626-1836A>C) | |
| 3 | g.39394562A>G | CA352205738 | SLC25A38 | c.730A>G (p.Thr244Ala) c.727A>G (p.Thr243Ala) c.724A>G (p.Thr242Ala) c.*75A>G (n.*75A>G) c.778A>G (p.Thr260Ala) c.766A>G (p.Thr256Ala) c.760A>G (p.Thr254Ala) c.598A>G (p.Thr200Ala) c.626-1836A>G (n.626-1836A>G) | dbSNP |
| 3 | g.39394562A>T | CA352205740 | SLC25A38 | c.730A>T (p.Thr244Ser) c.727A>T (p.Thr243Ser) c.724A>T (p.Thr242Ser) c.*75A>T (n.*75A>T) c.778A>T (p.Thr260Ser) c.766A>T (p.Thr256Ser) c.760A>T (p.Thr254Ser) c.598A>T (p.Thr200Ser) c.626-1836A>T (n.626-1836A>T) | |
| 3 | g.39394563C>A | CA352205761 | SLC25A38 | c.731C>A (p.Thr244Lys) c.728C>A (p.Thr243Lys) c.725C>A (p.Thr242Lys) c.*76C>A (n.*76C>A) c.779C>A (p.Thr260Lys) c.767C>A (p.Thr256Lys) c.761C>A (p.Thr254Lys) c.599C>A (p.Thr200Lys) c.626-1835C>A (n.626-1835C>A) | |
| 3 | g.39394563C>G | CA352205763 | SLC25A38 | c.731C>G (p.Thr244Arg) c.728C>G (p.Thr243Arg) c.725C>G (p.Thr242Arg) c.*76C>G (n.*76C>G) c.779C>G (p.Thr260Arg) c.767C>G (p.Thr256Arg) c.761C>G (p.Thr254Arg) c.599C>G (p.Thr200Arg) c.626-1835C>G (n.626-1835C>G) | gnomAD v4 |
| 3 | g.39394563C>T | CA352205745 | SLC25A38 | c.731C>T (p.Thr244Ile) c.728C>T (p.Thr243Ile) c.725C>T (p.Thr242Ile) c.*76C>T (n.*76C>T) c.779C>T (p.Thr260Ile) c.767C>T (p.Thr256Ile) c.761C>T (p.Thr254Ile) c.599C>T (p.Thr200Ile) c.626-1835C>T (n.626-1835C>T) | |
| 3 | g.39394564A= | CA1358939328 | SLC25A38 | c.732A= (p.Thr244=) c.729A= (p.Thr243=) c.726A= (p.Thr242=) c.*77A= (n.*77A=) c.780A= (p.Thr260=) c.768A= (p.Thr256=) c.762A= (p.Thr254=) c.600A= (p.Thr200=) c.626-1834A= (n.626-1834A=) | |
| 3 | g.39394564A>C | CA433164955 | SLC25A38 | c.732A>C (p.Thr244=) c.729A>C (p.Thr243=) c.726A>C (p.Thr242=) c.*77A>C (n.*77A>C) c.780A>C (p.Thr260=) c.768A>C (p.Thr256=) c.762A>C (p.Thr254=) c.600A>C (p.Thr200=) c.626-1834A>C (n.626-1834A>C) | |
| 3 | g.39394564A>G | CA2327544 | SLC25A38 | c.732A>G (p.Thr244=) c.729A>G (p.Thr243=) c.726A>G (p.Thr242=) c.*77A>G (n.*77A>G) c.780A>G (p.Thr260=) c.768A>G (p.Thr256=) c.762A>G (p.Thr254=) c.600A>G (p.Thr200=) c.626-1834A>G (n.626-1834A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394564A>T | CA433164958 | SLC25A38 | c.732A>T (p.Thr244=) c.729A>T (p.Thr243=) c.726A>T (p.Thr242=) c.*77A>T (n.*77A>T) c.780A>T (p.Thr260=) c.768A>T (p.Thr256=) c.762A>T (p.Thr254=) c.600A>T (p.Thr200=) c.626-1834A>T (n.626-1834A>T) | |
| 3 | g.39394565C>A | CA352205774 | SLC25A38 | c.733C>A (p.Leu245Ile) c.730C>A (p.Leu244Ile) c.727C>A (p.Leu243Ile) c.*78C>A (n.*78C>A) c.781C>A (p.Leu261Ile) c.769C>A (p.Leu257Ile) c.763C>A (p.Leu255Ile) c.601C>A (p.Leu201Ile) c.626-1833C>A (n.626-1833C>A) | |
| 3 | g.39394565C= | CA1358939329 | SLC25A38 | c.733C= (p.Leu245=) c.730C= (p.Leu244=) c.727C= (p.Leu243=) c.*78C= (n.*78C=) c.781C= (p.Leu261=) c.769C= (p.Leu257=) c.763C= (p.Leu255=) c.601C= (p.Leu201=) c.626-1833C= (n.626-1833C=) | |
| 3 | g.39394565C>G | CA352205777 | SLC25A38 | c.733C>G (p.Leu245Val) c.730C>G (p.Leu244Val) c.727C>G (p.Leu243Val) c.*78C>G (n.*78C>G) c.781C>G (p.Leu261Val) c.769C>G (p.Leu257Val) c.763C>G (p.Leu255Val) c.601C>G (p.Leu201Val) c.626-1833C>G (n.626-1833C>G) | |
| 3 | g.39394565C>T | CA352205785 | SLC25A38 | c.733C>T (p.Leu245Phe) c.730C>T (p.Leu244Phe) c.727C>T (p.Leu243Phe) c.*78C>T (n.*78C>T) c.781C>T (p.Leu261Phe) c.769C>T (p.Leu257Phe) c.763C>T (p.Leu255Phe) c.601C>T (p.Leu201Phe) c.626-1833C>T (n.626-1833C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394566T>A | CA352205789 | SLC25A38 | c.734T>A (p.Leu245His) c.731T>A (p.Leu244His) c.728T>A (p.Leu243His) c.*79T>A (n.*79T>A) c.782T>A (p.Leu261His) c.770T>A (p.Leu257His) c.764T>A (p.Leu255His) c.602T>A (p.Leu201His) c.626-1832T>A (n.626-1832T>A) | |
| 3 | g.39394566T>C | CA352205791 | SLC25A38 | c.734T>C (p.Leu245Pro) c.731T>C (p.Leu244Pro) c.728T>C (p.Leu243Pro) c.*79T>C (n.*79T>C) c.782T>C (p.Leu261Pro) c.770T>C (p.Leu257Pro) c.764T>C (p.Leu255Pro) c.602T>C (p.Leu201Pro) c.626-1832T>C (n.626-1832T>C) | |
| 3 | g.39394566T>G | CA2327545 | SLC25A38 | c.734T>G (p.Leu245Arg) c.731T>G (p.Leu244Arg) c.728T>G (p.Leu243Arg) c.*79T>G (n.*79T>G) c.782T>G (p.Leu261Arg) c.770T>G (p.Leu257Arg) c.764T>G (p.Leu255Arg) c.602T>G (p.Leu201Arg) c.626-1832T>G (n.626-1832T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394566T= | CA1358939330 | SLC25A38 | c.734T= (p.Leu245=) c.731T= (p.Leu244=) c.728T= (p.Leu243=) c.*79T= (n.*79T=) c.782T= (p.Leu261=) c.770T= (p.Leu257=) c.764T= (p.Leu255=) c.602T= (p.Leu201=) c.626-1832T= (n.626-1832T=) | |
| 3 | g.39394567T>A | CA433164967 | SLC25A38 | c.735T>A (p.Leu245=) c.732T>A (p.Leu244=) c.729T>A (p.Leu243=) c.*80T>A (n.*80T>A) c.783T>A (p.Leu261=) c.771T>A (p.Leu257=) c.765T>A (p.Leu255=) c.603T>A (p.Leu201=) c.626-1831T>A (n.626-1831T>A) | |
| 3 | g.39394567T>C | CA433164968 | SLC25A38 | c.735T>C (p.Leu245=) c.732T>C (p.Leu244=) c.729T>C (p.Leu243=) c.*80T>C (n.*80T>C) c.783T>C (p.Leu261=) c.771T>C (p.Leu257=) c.765T>C (p.Leu255=) c.603T>C (p.Leu201=) c.626-1831T>C (n.626-1831T>C) | |
| 3 | g.39394567T>G | CA433164971 | SLC25A38 | c.735T>G (p.Leu245=) c.732T>G (p.Leu244=) c.729T>G (p.Leu243=) c.*80T>G (n.*80T>G) c.783T>G (p.Leu261=) c.771T>G (p.Leu257=) c.765T>G (p.Leu255=) c.603T>G (p.Leu201=) c.626-1831T>G (n.626-1831T>G) | |
| 3 | g.39394568A= | CA1358939331 | SLC25A38 | c.736A= (p.Ile246=) c.733A= (p.Ile245=) c.730A= (p.Ile244=) c.*81A= (n.*81A=) c.784A= (p.Ile262=) c.772A= (p.Ile258=) c.766A= (p.Ile256=) c.604A= (p.Ile202=) c.626-1830A= (n.626-1830A=) | |
| 3 | g.39394568A>C | CA352205796 | SLC25A38 | c.736A>C (p.Ile246Leu) c.733A>C (p.Ile245Leu) c.730A>C (p.Ile244Leu) c.*81A>C (n.*81A>C) c.784A>C (p.Ile262Leu) c.772A>C (p.Ile258Leu) c.766A>C (p.Ile256Leu) c.604A>C (p.Ile202Leu) c.626-1830A>C (n.626-1830A>C) | |
| 3 | g.39394568A>G | CA352205800 | SLC25A38 | c.736A>G (p.Ile246Val) c.733A>G (p.Ile245Val) c.730A>G (p.Ile244Val) c.*81A>G (n.*81A>G) c.784A>G (p.Ile262Val) c.772A>G (p.Ile258Val) c.766A>G (p.Ile256Val) c.604A>G (p.Ile202Val) c.626-1830A>G (n.626-1830A>G) | dbSNP gnomAD v4 |
| 3 | g.39394568A>T | CA352205798 | SLC25A38 | c.736A>T (p.Ile246Phe) c.733A>T (p.Ile245Phe) c.730A>T (p.Ile244Phe) c.*81A>T (n.*81A>T) c.784A>T (p.Ile262Phe) c.772A>T (p.Ile258Phe) c.766A>T (p.Ile256Phe) c.604A>T (p.Ile202Phe) c.626-1830A>T (n.626-1830A>T) | |
| 3 | g.39394569T>A | CA352205804 | SLC25A38 | c.737T>A (p.Ile246Asn) c.734T>A (p.Ile245Asn) c.731T>A (p.Ile244Asn) c.*82T>A (n.*82T>A) c.785T>A (p.Ile262Asn) c.773T>A (p.Ile258Asn) c.767T>A (p.Ile256Asn) c.605T>A (p.Ile202Asn) c.626-1829T>A (n.626-1829T>A) | |
| 3 | g.39394569T>C | CA2327546 | SLC25A38 | c.737T>C (p.Ile246Thr) c.734T>C (p.Ile245Thr) c.731T>C (p.Ile244Thr) c.*82T>C (n.*82T>C) c.785T>C (p.Ile262Thr) c.773T>C (p.Ile258Thr) c.767T>C (p.Ile256Thr) c.605T>C (p.Ile202Thr) c.626-1829T>C (n.626-1829T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394569T>G | CA352205808 | SLC25A38 | c.737T>G (p.Ile246Ser) c.734T>G (p.Ile245Ser) c.731T>G (p.Ile244Ser) c.*82T>G (n.*82T>G) c.785T>G (p.Ile262Ser) c.773T>G (p.Ile258Ser) c.767T>G (p.Ile256Ser) c.605T>G (p.Ile202Ser) c.626-1829T>G (n.626-1829T>G) | |
| 3 | g.39394569T= | CA1358939332 | SLC25A38 | c.737T= (p.Ile246=) c.734T= (p.Ile245=) c.731T= (p.Ile244=) c.*82T= (n.*82T=) c.785T= (p.Ile262=) c.773T= (p.Ile258=) c.767T= (p.Ile256=) c.605T= (p.Ile202=) c.626-1829T= (n.626-1829T=) | |
| 3 | g.39394572del | CA2665163036 | SLC25A38 | c.740del (p.Phe247SerfsTer?) c.737del (p.Phe246SerfsTer22) c.734del (p.Phe245SerfsTer22) c.*85del (n.*85del) c.788del (p.Phe263SerfsTer22) c.776del (p.Phe259SerfsTer22) c.770del (p.Phe257SerfsTer22) c.608del (p.Phe203SerfsTer22) c.626-1826del (n.626-1826del) | gnomAD v4 |
| 3 | g.39394570T>A | CA433164981 | SLC25A38 | c.738T>A (p.Ile246=) c.735T>A (p.Ile245=) c.732T>A (p.Ile244=) c.*83T>A (n.*83T>A) c.786T>A (p.Ile262=) c.774T>A (p.Ile258=) c.768T>A (p.Ile256=) c.606T>A (p.Ile202=) c.626-1828T>A (n.626-1828T>A) | |
| 3 | g.39394570T>C | CA433164982 | SLC25A38 | c.738T>C (p.Ile246=) c.735T>C (p.Ile245=) c.732T>C (p.Ile244=) c.*83T>C (n.*83T>C) c.786T>C (p.Ile262=) c.774T>C (p.Ile258=) c.768T>C (p.Ile256=) c.606T>C (p.Ile202=) c.626-1828T>C (n.626-1828T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.39394570T>G | CA352205815 | SLC25A38 | c.738T>G (p.Ile246Met) c.735T>G (p.Ile245Met) c.732T>G (p.Ile244Met) c.*83T>G (n.*83T>G) c.786T>G (p.Ile262Met) c.774T>G (p.Ile258Met) c.768T>G (p.Ile256Met) c.606T>G (p.Ile202Met) c.626-1828T>G (n.626-1828T>G) | |
| 3 | g.39394571T>A | CA352205818 | SLC25A38 | c.739T>A (p.Phe247Ile) c.736T>A (p.Phe246Ile) c.733T>A (p.Phe245Ile) c.*84T>A (n.*84T>A) c.787T>A (p.Phe263Ile) c.775T>A (p.Phe259Ile) c.769T>A (p.Phe257Ile) c.607T>A (p.Phe203Ile) c.626-1827T>A (n.626-1827T>A) | |
| 3 | g.39394571T>C | CA352205817 | SLC25A38 | c.739T>C (p.Phe247Leu) c.736T>C (p.Phe246Leu) c.733T>C (p.Phe245Leu) c.*84T>C (n.*84T>C) c.787T>C (p.Phe263Leu) c.775T>C (p.Phe259Leu) c.769T>C (p.Phe257Leu) c.607T>C (p.Phe203Leu) c.626-1827T>C (n.626-1827T>C) | |
| 3 | g.39394571T>G | CA352205816 | SLC25A38 | c.739T>G (p.Phe247Val) c.736T>G (p.Phe246Val) c.733T>G (p.Phe245Val) c.*84T>G (n.*84T>G) c.787T>G (p.Phe263Val) c.775T>G (p.Phe259Val) c.769T>G (p.Phe257Val) c.607T>G (p.Phe203Val) c.626-1827T>G (n.626-1827T>G) | |
| 3 | g.39394572T>A | CA352205821 | SLC25A38 | c.740T>A (p.Phe247Tyr) c.737T>A (p.Phe246Tyr) c.734T>A (p.Phe245Tyr) c.*85T>A (n.*85T>A) c.788T>A (p.Phe263Tyr) c.776T>A (p.Phe259Tyr) c.770T>A (p.Phe257Tyr) c.608T>A (p.Phe203Tyr) c.626-1826T>A (n.626-1826T>A) | |
| 3 | g.39394572T>C | CA352205827 | SLC25A38 | c.740T>C (p.Phe247Ser) c.737T>C (p.Phe246Ser) c.734T>C (p.Phe245Ser) c.*85T>C (n.*85T>C) c.788T>C (p.Phe263Ser) c.776T>C (p.Phe259Ser) c.770T>C (p.Phe257Ser) c.608T>C (p.Phe203Ser) c.626-1826T>C (n.626-1826T>C) | |
| 3 | g.39394572T>G | CA352205823 | SLC25A38 | c.740T>G (p.Phe247Cys) c.737T>G (p.Phe246Cys) c.734T>G (p.Phe245Cys) c.*85T>G (n.*85T>G) c.788T>G (p.Phe263Cys) c.776T>G (p.Phe259Cys) c.770T>G (p.Phe257Cys) c.608T>G (p.Phe203Cys) c.626-1826T>G (n.626-1826T>G) | |
| 3 | g.39394573C>A | CA352205831 | SLC25A38 | c.741C>A (p.Phe247Leu) c.738C>A (p.Phe246Leu) c.735C>A (p.Phe245Leu) c.*86C>A (n.*86C>A) c.789C>A (p.Phe263Leu) c.777C>A (p.Phe259Leu) c.771C>A (p.Phe257Leu) c.609C>A (p.Phe203Leu) c.626-1825C>A (n.626-1825C>A) | |
| 3 | g.39394573C= | CA1358939333 | SLC25A38 | c.741C= (p.Phe247=) c.738C= (p.Phe246=) c.735C= (p.Phe245=) c.*86C= (n.*86C=) c.789C= (p.Phe263=) c.777C= (p.Phe259=) c.771C= (p.Phe257=) c.609C= (p.Phe203=) c.626-1825C= (n.626-1825C=) | |
| 3 | g.39394573C>G | CA352205835 | SLC25A38 | c.741C>G (p.Phe247Leu) c.738C>G (p.Phe246Leu) c.735C>G (p.Phe245Leu) c.*86C>G (n.*86C>G) c.789C>G (p.Phe263Leu) c.777C>G (p.Phe259Leu) c.771C>G (p.Phe257Leu) c.609C>G (p.Phe203Leu) c.626-1825C>G (n.626-1825C>G) | |
| 3 | g.39394573C>T | CA433164993 | SLC25A38 | c.741C>T (p.Phe247=) c.738C>T (p.Phe246=) c.735C>T (p.Phe245=) c.*86C>T (n.*86C>T) c.789C>T (p.Phe263=) c.777C>T (p.Phe259=) c.771C>T (p.Phe257=) c.609C>T (p.Phe203=) c.626-1825C>T (n.626-1825C>T) | dbSNP |
| 3 | g.39394574A= | CA1358939334 | SLC25A38 | c.742A= (p.Lys248=) c.739A= (p.Lys247=) c.736A= (p.Lys246=) c.*87A= (n.*87A=) c.790A= (p.Lys264=) c.778A= (p.Lys260=) c.772A= (p.Lys258=) c.610A= (p.Lys204=) c.626-1824A= (n.626-1824A=) | |
| 3 | g.39394574A>C | CA352205836 | SLC25A38 | c.742A>C (p.Lys248Gln) c.739A>C (p.Lys247Gln) c.736A>C (p.Lys246Gln) c.*87A>C (n.*87A>C) c.790A>C (p.Lys264Gln) c.778A>C (p.Lys260Gln) c.772A>C (p.Lys258Gln) c.610A>C (p.Lys204Gln) c.626-1824A>C (n.626-1824A>C) | |
| 3 | g.39394574A>G | CA352205837 | SLC25A38 | c.742A>G (p.Lys248Glu) c.739A>G (p.Lys247Glu) c.736A>G (p.Lys246Glu) c.*87A>G (n.*87A>G) c.790A>G (p.Lys264Glu) c.778A>G (p.Lys260Glu) c.772A>G (p.Lys258Glu) c.610A>G (p.Lys204Glu) c.626-1824A>G (n.626-1824A>G) | |
| 3 | g.39394574A>T | CA114774 | SLC25A38 | c.742A>T (p.Lys248Ter) c.739A>T (p.Lys247Ter) c.736A>T (p.Lys246Ter) c.*87A>T (n.*87A>T) c.790A>T (p.Lys264Ter) c.778A>T (p.Lys260Ter) c.772A>T (p.Lys258Ter) c.610A>T (p.Lys204Ter) c.626-1824A>T (n.626-1824A>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.39394575A>C | CA352205843 | SLC25A38 | c.743A>C (p.Lys248Thr) c.740A>C (p.Lys247Thr) c.737A>C (p.Lys246Thr) c.*88A>C (n.*88A>C) c.791A>C (p.Lys264Thr) c.779A>C (p.Lys260Thr) c.773A>C (p.Lys258Thr) c.611A>C (p.Lys204Thr) c.626-1823A>C (n.626-1823A>C) | |
| 3 | g.39394575A>G | CA352205844 | SLC25A38 | c.743A>G (p.Lys248Arg) c.740A>G (p.Lys247Arg) c.737A>G (p.Lys246Arg) c.*88A>G (n.*88A>G) c.791A>G (p.Lys264Arg) c.779A>G (p.Lys260Arg) c.773A>G (p.Lys258Arg) c.611A>G (p.Lys204Arg) c.626-1823A>G (n.626-1823A>G) | gnomAD v4 |
| 3 | g.39394575A>T | CA352205845 | SLC25A38 | c.743A>T (p.Lys248Ile) c.740A>T (p.Lys247Ile) c.737A>T (p.Lys246Ile) c.*88A>T (n.*88A>T) c.791A>T (p.Lys264Ile) c.779A>T (p.Lys260Ile) c.773A>T (p.Lys258Ile) c.611A>T (p.Lys204Ile) c.626-1823A>T (n.626-1823A>T) | |
| 3 | g.39394578_39394581del | CA2755919946 | SLC25A38 | c.741+2_741+5del c.738+2_738+5del c.*89+2_*89+5del c.792+2_792+5del c.780+2_780+5del c.774+2_774+5del c.612+2_612+5del c.626-1820_626-1817del (n.626-1820_626-1817del) | |
| 3 | g.39394576A>C | CA352205846 | SLC25A38 | c.744A>C (p.Lys248Asn) c.741A>C (p.Lys247Asn) c.738A>C (p.Lys246Asn) c.*89A>C (n.*89A>C) c.792A>C (p.Lys264Asn) c.780A>C (p.Lys260Asn) c.774A>C (p.Lys258Asn) c.612A>C (p.Lys204Asn) c.626-1822A>C (n.626-1822A>C) | |
| 3 | g.39394576A>G | CA433165003 | SLC25A38 | c.744A>G (p.Lys248=) c.741A>G (p.Lys247=) c.738A>G (p.Lys246=) c.*89A>G (n.*89A>G) c.792A>G (p.Lys264=) c.780A>G (p.Lys260=) c.774A>G (p.Lys258=) c.612A>G (p.Lys204=) c.626-1822A>G (n.626-1822A>G) | |
| 3 | g.39394576A>T | CA352205847 | SLC25A38 | c.744A>T (p.Lys248Asn) c.741A>T (p.Lys247Asn) c.738A>T (p.Lys246Asn) c.*89A>T (n.*89A>T) c.792A>T (p.Lys264Asn) c.780A>T (p.Lys260Asn) c.774A>T (p.Lys258Asn) c.612A>T (p.Lys204Asn) c.626-1822A>T (n.626-1822A>T) | |
| 3 | g.39394577G>A | CA352205848 | SLC25A38 | c.741+1G>A (n.741+1G>A) c.738+1G>A (n.738+1G>A) c.*89+1G>A (n.*89+1G>A) c.792+1G>A (n.792+1G>A) c.780+1G>A (n.780+1G>A) c.774+1G>A (n.774+1G>A) c.612+1G>A (n.612+1G>A) c.626-1821G>A (n.626-1821G>A) | |
| 3 | g.39394577G>C | CA352205851 | SLC25A38 | c.741+1G>C (n.741+1G>C) c.738+1G>C (n.738+1G>C) c.*89+1G>C (n.*89+1G>C) c.792+1G>C (n.792+1G>C) c.780+1G>C (n.780+1G>C) c.774+1G>C (n.774+1G>C) c.612+1G>C (n.612+1G>C) c.626-1821G>C (n.626-1821G>C) | |
| 3 | g.39394577G>T | CA352205854 | SLC25A38 | c.741+1G>T (n.741+1G>T) c.738+1G>T (n.738+1G>T) c.*89+1G>T (n.*89+1G>T) c.792+1G>T (n.792+1G>T) c.780+1G>T (n.780+1G>T) c.774+1G>T (n.774+1G>T) c.612+1G>T (n.612+1G>T) c.626-1821G>T (n.626-1821G>T) | |
| 3 | g.39394578T>A | CA352205862 | SLC25A38 | c.741+2T>A (n.741+2T>A) c.738+2T>A (n.738+2T>A) c.*89+2T>A (n.*89+2T>A) c.792+2T>A (n.792+2T>A) c.780+2T>A (n.780+2T>A) c.774+2T>A (n.774+2T>A) c.612+2T>A (n.612+2T>A) c.626-1820T>A (n.626-1820T>A) | |
| 3 | g.39394578T>C | CA2327547 | SLC25A38 | c.741+2T>C (n.741+2T>C) c.738+2T>C (n.738+2T>C) c.*89+2T>C (n.*89+2T>C) c.792+2T>C (n.792+2T>C) c.780+2T>C (n.780+2T>C) c.774+2T>C (n.774+2T>C) c.612+2T>C (n.612+2T>C) c.626-1820T>C (n.626-1820T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.39394578T>G | CA352205858 | SLC25A38 | c.741+2T>G (n.741+2T>G) c.738+2T>G (n.738+2T>G) c.*89+2T>G (n.*89+2T>G) c.792+2T>G (n.792+2T>G) c.780+2T>G (n.780+2T>G) c.774+2T>G (n.774+2T>G) c.612+2T>G (n.612+2T>G) c.626-1820T>G (n.626-1820T>G) | |
| 3 | g.39394578T= | CA1358939335 | SLC25A38 | c.741+2T= (n.741+2T=) c.738+2T= (n.738+2T=) c.*89+2T= (n.*89+2T=) c.792+2T= (n.792+2T=) c.780+2T= (n.780+2T=) c.774+2T= (n.774+2T=) c.612+2T= (n.612+2T=) c.626-1820T= (n.626-1820T=) | |
| 3 | g.39394580A>C | CA2665163045 | SLC25A38 | c.741+4A>C (n.741+4A>C) c.738+4A>C (n.738+4A>C) c.*89+4A>C (n.*89+4A>C) c.792+4A>C (n.792+4A>C) c.780+4A>C (n.780+4A>C) c.774+4A>C (n.774+4A>C) c.612+4A>C (n.612+4A>C) c.626-1818A>C (n.626-1818A>C) | gnomAD v4 |
| 3 | g.39394581G>C | CA2499216774 | SLC25A38 | c.741+5G>C (n.741+5G>C) c.738+5G>C (n.738+5G>C) c.*89+5G>C (n.*89+5G>C) c.792+5G>C (n.792+5G>C) c.780+5G>C (n.780+5G>C) c.774+5G>C (n.774+5G>C) c.612+5G>C (n.612+5G>C) c.626-1817G>C (n.626-1817G>C) | ClinVar dbSNP |
| 3 | g.39394582A>C | CA2665163046 | SLC25A38 | c.741+6A>C (n.741+6A>C) c.738+6A>C (n.738+6A>C) c.*89+6A>C (n.*89+6A>C) c.792+6A>C (n.792+6A>C) c.780+6A>C (n.780+6A>C) c.774+6A>C (n.774+6A>C) c.612+6A>C (n.612+6A>C) c.626-1816A>C (n.626-1816A>C) | gnomAD v4 |
| 3 | g.39394583C>G | CA2755919947 | SLC25A38 | c.741+7C>G (n.741+7C>G) c.738+7C>G (n.738+7C>G) c.*89+7C>G (n.*89+7C>G) c.792+7C>G (n.792+7C>G) c.780+7C>G (n.780+7C>G) c.774+7C>G (n.774+7C>G) c.612+7C>G (n.612+7C>G) c.626-1815C>G (n.626-1815C>G) | |
| 3 | g.39394585A>T | CA2665163047 | SLC25A38 | c.741+9A>T (n.741+9A>T) c.738+9A>T (n.738+9A>T) c.*89+9A>T (n.*89+9A>T) c.792+9A>T (n.792+9A>T) c.780+9A>T (n.780+9A>T) c.774+9A>T (n.774+9A>T) c.612+9A>T (n.612+9A>T) c.626-1813A>T (n.626-1813A>T) | gnomAD v4 |
| 3 | g.39394586C= | CA1358939336 | SLC25A38 | c.741+10C= (n.741+10C=) c.738+10C= (n.738+10C=) c.*89+10C= (n.*89+10C=) c.792+10C= (n.792+10C=) c.780+10C= (n.780+10C=) c.774+10C= (n.774+10C=) c.612+10C= (n.612+10C=) c.626-1812C= (n.626-1812C=) | |
| 3 | g.39394586C>G | CA542617041 | SLC25A38 | c.741+10C>G (n.741+10C>G) c.738+10C>G (n.738+10C>G) c.*89+10C>G (n.*89+10C>G) c.792+10C>G (n.792+10C>G) c.780+10C>G (n.780+10C>G) c.774+10C>G (n.774+10C>G) c.612+10C>G (n.612+10C>G) c.626-1812C>G (n.626-1812C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394586C>T | CA2665163050 | SLC25A38 | c.741+10C>T (n.741+10C>T) c.738+10C>T (n.738+10C>T) c.*89+10C>T (n.*89+10C>T) c.792+10C>T (n.792+10C>T) c.780+10C>T (n.780+10C>T) c.774+10C>T (n.774+10C>T) c.612+10C>T (n.612+10C>T) c.626-1812C>T (n.626-1812C>T) | gnomAD v4 |
| 3 | g.39394587A>G | CA2665163051 | SLC25A38 | c.741+11A>G (n.741+11A>G) c.738+11A>G (n.738+11A>G) c.*89+11A>G (n.*89+11A>G) c.792+11A>G (n.792+11A>G) c.780+11A>G (n.780+11A>G) c.774+11A>G (n.774+11A>G) c.612+11A>G (n.612+11A>G) c.626-1811A>G (n.626-1811A>G) | gnomAD v4 |
| 3 | g.39394588A>G | CA2739279774 | SLC25A38 | c.741+12A>G (n.741+12A>G) c.738+12A>G (n.738+12A>G) c.*89+12A>G (n.*89+12A>G) c.792+12A>G (n.792+12A>G) c.780+12A>G (n.780+12A>G) c.774+12A>G (n.774+12A>G) c.612+12A>G (n.612+12A>G) c.626-1810A>G (n.626-1810A>G) | ClinVar |
| 3 | g.39394592A>G | CA2665163052 | SLC25A38 | c.741+16A>G (n.741+16A>G) c.738+16A>G (n.738+16A>G) c.*89+16A>G (n.*89+16A>G) c.792+16A>G (n.792+16A>G) c.780+16A>G (n.780+16A>G) c.774+16A>G (n.774+16A>G) c.612+16A>G (n.612+16A>G) c.626-1806A>G (n.626-1806A>G) | gnomAD v4 |
| 3 | g.39394594G>A | CA73040732 | SLC25A38 | c.741+18G>A (n.741+18G>A) c.738+18G>A (n.738+18G>A) c.*89+18G>A (n.*89+18G>A) c.792+18G>A (n.792+18G>A) c.780+18G>A (n.780+18G>A) c.774+18G>A (n.774+18G>A) c.612+18G>A (n.612+18G>A) c.626-1804G>A (n.626-1804G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394594G>C | CA2327548 | SLC25A38 | c.741+18G>C (n.741+18G>C) c.738+18G>C (n.738+18G>C) c.*89+18G>C (n.*89+18G>C) c.792+18G>C (n.792+18G>C) c.780+18G>C (n.780+18G>C) c.774+18G>C (n.774+18G>C) c.612+18G>C (n.612+18G>C) c.626-1804G>C (n.626-1804G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394594G= | CA1358939337 | SLC25A38 | c.741+18G= (n.741+18G=) c.738+18G= (n.738+18G=) c.*89+18G= (n.*89+18G=) c.792+18G= (n.792+18G=) c.780+18G= (n.780+18G=) c.774+18G= (n.774+18G=) c.612+18G= (n.612+18G=) c.626-1804G= (n.626-1804G=) | |
| 3 | g.39394597C>A | CA2665163057 | SLC25A38 | c.741+21C>A (n.741+21C>A) c.738+21C>A (n.738+21C>A) c.*89+21C>A (n.*89+21C>A) c.792+21C>A (n.792+21C>A) c.780+21C>A (n.780+21C>A) c.774+21C>A (n.774+21C>A) c.612+21C>A (n.612+21C>A) c.626-1801C>A (n.626-1801C>A) | gnomAD v4 |
| 3 | g.39394597C= | CA1358939338 | SLC25A38 | c.741+21C= (n.741+21C=) c.738+21C= (n.738+21C=) c.*89+21C= (n.*89+21C=) c.792+21C= (n.792+21C=) c.780+21C= (n.780+21C=) c.774+21C= (n.774+21C=) c.612+21C= (n.612+21C=) c.626-1801C= (n.626-1801C=) | |
| 3 | g.39394597C>T | CA542617042 | SLC25A38 | c.741+21C>T (n.741+21C>T) c.738+21C>T (n.738+21C>T) c.*89+21C>T (n.*89+21C>T) c.792+21C>T (n.792+21C>T) c.780+21C>T (n.780+21C>T) c.774+21C>T (n.774+21C>T) c.612+21C>T (n.612+21C>T) c.626-1801C>T (n.626-1801C>T) | dbSNP gnomAD v2 gnomAD v4 |