| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del) | gnomAD v4 |
| 1 | g.152310781T>A | CA342077302 | FLG | c.4105A>T (p.Arg1369Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310781T>C | CA342077305 | FLG | c.4105A>G (p.Arg1369Gly) | |
| 1 | g.152310781T>G | CA420930425 | FLG | c.4105A>C (p.Arg1369=) | |
| 1 | g.152310781T= | CA2479951059 | FLG | c.4105A= (p.Arg1369=) | |
| 1 | g.152310782G>A | CA420930427 | FLG | c.4104C>T (p.Ser1368=) | |
| 1 | g.152310782G>C | CA420930429 | FLG | c.4104C>G (p.Ser1368=) | |
| 1 | g.152310782G>T | CA420930430 | FLG | c.4104C>A (p.Ser1368=) | |
| 1 | g.152310783G>A | CA30555160 | FLG | c.4103C>T (p.Ser1368Phe) | dbSNP gnomAD v4 |
| 1 | g.152310783G>C | CA342077311 | FLG | c.4103C>G (p.Ser1368Cys) | |
| 1 | g.152310783G= | CA2479951060 | FLG | c.4103C= (p.Ser1368=) | |
| 1 | g.152310783G>T | CA342077317 | FLG | c.4103C>A (p.Ser1368Tyr) | |
| 1 | g.152310784A>C | CA342077321 | FLG | c.4102T>G (p.Ser1368Ala) | |
| 1 | g.152310784A>G | CA342077327 | FLG | c.4102T>C (p.Ser1368Pro) | gnomAD v4 |
| 1 | g.152310784A>T | CA342077324 | FLG | c.4102T>A (p.Ser1368Thr) | |
| 1 | g.152310785G>A | CA420930086 | FLG | c.4101C>T (p.Ser1367=) | |
| 1 | g.152310785G>C | CA342078684 | FLG | c.4101C>G (p.Ser1367Arg) | gnomAD v4 |
| 1 | g.152310785G>T | CA342078685 | FLG | c.4101C>A (p.Ser1367Arg) | gnomAD v4 |
| 1 | g.152310786C>A | CA342078686 | FLG | c.4100G>T (p.Ser1367Ile) | dbSNP |
| 1 | g.152310786C= | CA2479951061 | FLG | c.4100G= (p.Ser1367=) | |
| 1 | g.152310786C>G | CA342078689 | FLG | c.4100G>C (p.Ser1367Thr) | |
| 1 | g.152310786C>T | CA342078692 | FLG | c.4100G>A (p.Ser1367Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310787T>A | CA342078694 | FLG | c.4099A>T (p.Ser1367Cys) | |
| 1 | g.152310787T>C | CA342078696 | FLG | c.4099A>G (p.Ser1367Gly) | gnomAD v4 |
| 1 | g.152310787T>G | CA342078698 | FLG | c.4099A>C (p.Ser1367Arg) | |
| 1 | g.152310788G>A | CA420930097 | FLG | c.4098C>T (p.Asp1366=) | dbSNP |
| 1 | g.152310788G>C | CA342078700 | FLG | c.4098C>G (p.Asp1366Glu) | |
| 1 | g.152310788G= | CA2479951062 | FLG | c.4098C= (p.Asp1366=) | |
| 1 | g.152310788G>T | CA342078703 | FLG | c.4098C>A (p.Asp1366Glu) | |
| 1 | g.152310789T>A | CA342078707 | FLG | c.4097A>T (p.Asp1366Val) | |
| 1 | g.152310789T>C | CA1106370 | FLG | c.4097A>G (p.Asp1366Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310789T>G | CA342078709 | FLG | c.4097A>C (p.Asp1366Ala) | |
| 1 | g.152310789T= | CA2479951063 | FLG | c.4097A= (p.Asp1366=) | |
| 1 | g.152310790C>A | CA342078715 | FLG | c.4096G>T (p.Asp1366Tyr) | |
| 1 | g.152310790C= | CA2479951064 | FLG | c.4096G= (p.Asp1366=) | |
| 1 | g.152310790C>G | CA342078725 | FLG | c.4096G>C (p.Asp1366His) | |
| 1 | g.152310790C>T | CA1106371 | FLG | c.4096G>A (p.Asp1366Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310791T>A | CA1106372 | FLG | c.4095A>T (p.Ala1365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310791T>C | CA420930107 | FLG | c.4095A>G (p.Ala1365=) | |
| 1 | g.152310791T>G | CA420930108 | FLG | c.4095A>C (p.Ala1365=) | |
| 1 | g.152310791T= | CA1140272323 | FLG | c.4095A= (p.Ala1365=) | |
| 1 | g.152310792G>A | CA342078729 | FLG | c.4094C>T (p.Ala1365Val) | |
| 1 | g.152310792G>C | CA342078730 | FLG | c.4094C>G (p.Ala1365Gly) | |
| 1 | g.152310792G>T | CA342078731 | FLG | c.4094C>A (p.Ala1365Glu) | |
| 1 | g.152310793C>A | CA342078736 | FLG | c.4093G>T (p.Ala1365Ser) | |
| 1 | g.152310793C>G | CA342078740 | FLG | c.4093G>C (p.Ala1365Pro) | |
| 1 | g.152310793C>T | CA342078751 | FLG | c.4093G>A (p.Ala1365Thr) | COSMIC |
| 1 | g.152310794T>A | CA420930110 | FLG | c.4092A>T (p.Ser1364=) | |
| 1 | g.152310794T>C | CA420930112 | FLG | c.4092A>G (p.Ser1364=) | |
| 1 | g.152310794T>G | CA420930115 | FLG | c.4092A>C (p.Ser1364=) |