| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.185144945T>A | CA358896319 | SLC25A4 | c.293T>A (p.Leu98His) | |
| 4 | g.185144945T>C | CA127986 | SLC25A4 | c.293T>C (p.Leu98Pro) | ClinVar dbSNP |
| 4 | g.185144945T>G | CA358896320 | SLC25A4 | c.293T>G (p.Leu98Arg) | |
| 4 | g.185144945T= | CA1519347187 | SLC25A4 | c.293T= (p.Leu98=) | |
| 4 | g.185144946C>A | CA3156445 | SLC25A4 | c.294C>A (p.Leu98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185144946C= | CA1519347190 | SLC25A4 | c.294C= (p.Leu98=) | |
| 4 | g.185144946C>G | CA112005775 | SLC25A4 | c.294C>G (p.Leu98=) | dbSNP |
| 4 | g.185144946C>T | CA442615248 | SLC25A4 | c.294C>T (p.Leu98=) | |
| 4 | g.185144947T>A | CA358896321 | SLC25A4 | c.295T>A (p.Phe99Ile) | |
| 4 | g.185144947T>C | CA358896322 | SLC25A4 | c.295T>C (p.Phe99Leu) | |
| 4 | g.185144947T>G | CA358896323 | SLC25A4 | c.295T>G (p.Phe99Val) | |
| 4 | g.185144948T>A | CA358896325 | SLC25A4 | c.296T>A (p.Phe99Tyr) | |
| 4 | g.185144948T>C | CA358896326 | SLC25A4 | c.296T>C (p.Phe99Ser) | |
| 4 | g.185144948T>G | CA358896324 | SLC25A4 | c.296T>G (p.Phe99Cys) | |
| 4 | g.185144949C>A | CA358896327 | SLC25A4 | c.297C>A (p.Phe99Leu) | |
| 4 | g.185144949C>G | CA358896328 | SLC25A4 | c.297C>G (p.Phe99Leu) | |
| 4 | g.185144949C>T | CA442615249 | SLC25A4 | c.297C>T (p.Phe99=) | |
| 4 | g.185144950T>A | CA358896329 | SLC25A4 | c.298T>A (p.Leu100Ile) | |
| 4 | g.185144950T>C | CA442615250 | SLC25A4 | c.298T>C (p.Leu100=) | dbSNP |
| 4 | g.185144950T>G | CA358896330 | SLC25A4 | c.298T>G (p.Leu100Val) | |
| 4 | g.185144950T= | CA1519347193 | SLC25A4 | c.298T= (p.Leu100=) | |
| 4 | g.185144951T>A | CA358896331 | SLC25A4 | c.299T>A (p.Leu100Ter) | gnomAD v4 |
| 4 | g.185144951T>C | CA358896332 | SLC25A4 | c.299T>C (p.Leu100Ser) | |
| 4 | g.185144951T>G | CA358896333 | SLC25A4 | c.299T>G (p.Leu100Ter) | gnomAD v4 |
| 4 | g.185144952A= | CA1519347196 | SLC25A4 | c.300A= (p.Leu100=) | |
| 4 | g.185144952A>C | CA358896334 | SLC25A4 | c.300A>C (p.Leu100Phe) | |
| 4 | g.185144952A>G | CA442866885 | SLC25A4 | c.300A>G (p.Leu100=) | dbSNP |
| 4 | g.185144952A>T | CA358896335 | SLC25A4 | c.300A>T (p.Leu100Phe) | |
| 4 | g.185144952_185144953delinsAG | CA1519347198 | SLC25A4 | c.300_301delinsAG (p.Leu100=) | |
| 4 | g.185144953G>A | CA358896338 | SLC25A4 | c.301G>A (p.Gly101Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144953G>C | CA358896337 | SLC25A4 | c.301G>C (p.Gly101Arg) | |
| 4 | g.185144953G= | CA1519347200 | SLC25A4 | c.301G= (p.Gly101=) | |
| 4 | g.185144953G>T | CA358896336 | SLC25A4 | c.301G>T (p.Gly101Trp) | |
| 4 | g.185144957del | CA1071902731 | SLC25A4 | c.305del (p.Gly102ValfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144954G>A | CA358896339 | SLC25A4 | c.302G>A (p.Gly101Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185144954G>C | CA3156447 | SLC25A4 | c.302G>C (p.Gly101Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144954G= | CA1519347204 | SLC25A4 | c.302G= (p.Gly101=) | |
| 4 | g.185144954G>T | CA3156446 | SLC25A4 | c.302G>T (p.Gly101Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 4 | g.185144955G>A | CA442866897 | SLC25A4 | c.303G>A (p.Gly101=) | dbSNP |
| 4 | g.185144955G>C | CA442866891 | SLC25A4 | c.303G>C (p.Gly101=) | |
| 4 | g.185144955G= | CA1519347208 | SLC25A4 | c.303G= (p.Gly101=) | |
| 4 | g.185144955G>T | CA442866892 | SLC25A4 | c.303G>T (p.Gly101=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185144956G>A | CA358896340 | SLC25A4 | c.304G>A (p.Gly102Ser) | gnomAD v4 |
| 4 | g.185144956G>C | CA358896341 | SLC25A4 | c.304G>C (p.Gly102Arg) | |
| 4 | g.185144956G>T | CA358896342 | SLC25A4 | c.304G>T (p.Gly102Cys) | |
| 4 | g.185144957G>A | CA358896343 | SLC25A4 | c.305G>A (p.Gly102Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185144957G>C | CA358896345 | SLC25A4 | c.305G>C (p.Gly102Ala) | |
| 4 | g.185144957G= | CA1519347210 | SLC25A4 | c.305G= (p.Gly102=) | |
| 4 | g.185144957G>T | CA358896344 | SLC25A4 | c.305G>T (p.Gly102Val) | dbSNP |
| 4 | g.185144960_185144961dup | CA2672840946 | SLC25A4 | c.308_309dup (p.Asp104TrpfsTer?) | gnomAD v4 |