Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.185144949_185144951del | CA2764845864 | SLC25A4 | c.297_299del (p.Phe99del) | |
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 |
4 | g.185144958T>A | CA442866903 | SLC25A4 | c.306T>A (p.Gly102=) | |
4 | g.185144958T>C | CA442866905 | SLC25A4 | c.306T>C (p.Gly102=) | dbSNP |
4 | g.185144958T>G | CA442866908 | SLC25A4 | c.306T>G (p.Gly102=) | |
4 | g.185144958T= | CA1519347213 | SLC25A4 | c.306T= (p.Gly102=) | |
4 | g.185144959G>A | CA358896346 | SLC25A4 | c.307G>A (p.Val103Met) | dbSNP |
4 | g.185144959G>C | CA358896347 | SLC25A4 | c.307G>C (p.Val103Leu) | |
4 | g.185144959G= | CA1519347215 | SLC25A4 | c.307G= (p.Val103=) | |
4 | g.185144959G>T | CA358896348 | SLC25A4 | c.307G>T (p.Val103Leu) | |
4 | g.185144960T>A | CA358896349 | SLC25A4 | c.308T>A (p.Val103Glu) | |
4 | g.185144960T>C | CA358896350 | SLC25A4 | c.308T>C (p.Val103Ala) | |
4 | g.185144960T>G | CA358896351 | SLC25A4 | c.308T>G (p.Val103Gly) | |
4 | g.185144961G>A | CA442866920 | SLC25A4 | c.309G>A (p.Val103=) | |
4 | g.185144961G>C | CA442866924 | SLC25A4 | c.309G>C (p.Val103=) | |
4 | g.185144961G>T | CA442866921 | SLC25A4 | c.309G>T (p.Val103=) | |
4 | g.185144962G>A | CA358896352 | SLC25A4 | c.310G>A (p.Asp104Asn) | dbSNP |
4 | g.185144962G>C | CA358896353 | SLC25A4 | c.310G>C (p.Asp104His) | |
4 | g.185144962G= | CA1519347218 | SLC25A4 | c.310G= (p.Asp104=) | |
4 | g.185144962G>T | CA358896354 | SLC25A4 | c.310G>T (p.Asp104Tyr) | gnomAD v4 COSMIC |
4 | g.185144963A= | CA1519347223 | SLC25A4 | c.311A= (p.Asp104=) | |
4 | g.185144963A>C | CA358896355 | SLC25A4 | c.311A>C (p.Asp104Ala) |