| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152313982_152313987delinsCCCTGT | CA2479952761 | FLG | c.899_904delinsACAGGG (p.Asp300=) n.524_529delinsCCCTGT | |
| 1 | g.152313987_152313991del | CA16616891 | FLG | c.899_903del (p.Asp300GlyfsTer3) n.529_533del | ClinVar dbSNP gnomAD v4 |
| 1 | g.152313987T>A | CA342104369 | FLG | c.899A>T (p.Asp300Val) n.529T>A | |
| 1 | g.152313987T>C | CA342104374 | FLG | c.899A>G (p.Asp300Gly) n.529T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152313987T>G | CA342104371 | FLG | c.899A>C (p.Asp300Ala) n.529T>G | gnomAD v4 |
| 1 | g.152313987T= | CA2479952763 | FLG | c.899A= (p.Asp300=) n.529T= | |
| 1 | g.152313988C>A | CA342104377 | FLG | c.898G>T (p.Asp300Tyr) n.530C>A | |
| 1 | g.152313988C= | CA2479952764 | FLG | c.898G= (p.Asp300=) n.530C= | |
| 1 | g.152313988C>G | CA342104379 | FLG | c.898G>C (p.Asp300His) n.530C>G | |
| 1 | g.152313988C>T | CA342104382 | FLG | c.898G>A (p.Asp300Asn) n.530C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152313989C>A | CA342104384 | FLG | c.897G>T (p.Gln299His) n.531C>A | COSMIC |
| 1 | g.152313989C= | CA2479952765 | FLG | c.897G= (p.Gln299=) n.531C= | |
| 1 | g.152313989C>G | CA342104386 | FLG | c.897G>C (p.Gln299His) n.531C>G | gnomAD v4 |
| 1 | g.152313989C>T | CA1107873 | FLG | c.897G>A (p.Gln299=) n.531C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152313990T>A | CA342104395 | FLG | c.896A>T (p.Gln299Leu) n.532T>A | |
| 1 | g.152313990T>C | CA342104393 | FLG | c.896A>G (p.Gln299Arg) n.532T>C | dbSNP gnomAD v4 |
| 1 | g.152313990T>G | CA342104391 | FLG | c.896A>C (p.Gln299Pro) n.532T>G | |
| 1 | g.152313990T= | CA2479952766 | FLG | c.896A= (p.Gln299=) n.532T= | |
| 1 | g.152313991G>A | CA342104399 | FLG | c.895C>T (p.Gln299Ter) n.533G>A | |
| 1 | g.152313991G>C | CA342104402 | FLG | c.895C>G (p.Gln299Glu) n.533G>C | |
| 1 | g.152313991G= | CA1146398805 | FLG | c.895C= (p.Gln299=) n.533G= | |
| 1 | g.152313991G>T | CA1107874 | FLG | c.895C>A (p.Gln299Lys) n.533G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313992G>A | CA1107875 | FLG | c.894C>T (p.Ser298=) n.534G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313992G>C | CA1107876 | FLG | c.894C>G (p.Ser298Arg) n.534G>C | dbSNP ExAC gnomAD v2 |
| 1 | g.152313992G= | CA1141858406 | FLG | c.894C= (p.Ser298=) n.534G= | |
| 1 | g.152313992G>T | CA1107877 | FLG | c.894C>A (p.Ser298Arg) n.534G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313993C>A | CA342104413 | FLG | c.893G>T (p.Ser298Ile) n.535C>A | |
| 1 | g.152313993C>G | CA342104418 | FLG | c.893G>C (p.Ser298Thr) n.535C>G | |
| 1 | g.152313993C>T | CA342104416 | FLG | c.893G>A (p.Ser298Asn) n.535C>T | |
| 1 | g.152313994T>A | CA342104421 | FLG | c.892A>T (p.Ser298Cys) n.536T>A | |
| 1 | g.152313994T>C | CA342104424 | FLG | c.892A>G (p.Ser298Gly) n.536T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152313994T>G | CA342104427 | FLG | c.892A>C (p.Ser298Arg) n.536T>G | |
| 1 | g.152313994T= | CA2479952767 | FLG | c.892A= (p.Ser298=) n.536T= | |
| 1 | g.152313995A= | CA2479952768 | FLG | c.891T= (p.Val297=) n.537A= | |
| 1 | g.152313995A>C | CA420932243 | FLG | c.891T>G (p.Val297=) n.537A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152313995A>G | CA420932242 | FLG | c.891T>C (p.Val297=) n.537A>G | |
| 1 | g.152313995A>T | CA420932241 | FLG | c.891T>A (p.Val297=) n.537A>T | dbSNP |
| 1 | g.152313996A>C | CA342104430 | FLG | c.890T>G (p.Val297Gly) n.538A>C | |
| 1 | g.152313996A>G | CA342104433 | FLG | c.890T>C (p.Val297Ala) n.538A>G | |
| 1 | g.152313996A>T | CA342104436 | FLG | c.890T>A (p.Val297Asp) n.538A>T | |
| 1 | g.152313997C>A | CA1107878 | FLG | c.889G>T (p.Val297Phe) n.539C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313997C= | CA2479952769 | FLG | c.889G= (p.Val297=) n.539C= | |
| 1 | g.152313997C>G | CA342104441 | FLG | c.889G>C (p.Val297Leu) n.539C>G | |
| 1 | g.152313997C>T | CA342104443 | FLG | c.889G>A (p.Val297Ile) n.539C>T | |
| 1 | g.152313998T>A | CA30568559 | FLG | c.888A>T (p.Arg296Ser) n.540T>A | dbSNP gnomAD v4 |
| 1 | g.152313998T>C | CA420932245 | FLG | c.888A>G (p.Arg296=) n.540T>C | |
| 1 | g.152313998T>G | CA342104447 | FLG | c.888A>C (p.Arg296Ser) n.540T>G | |
| 1 | g.152313998T= | CA1143486055 | FLG | c.888A= (p.Arg296=) n.540T= | |
| 1 | g.152313999C>A | CA342104457 | FLG | c.887G>T (p.Arg296Ile) n.541C>A | COSMIC |
| 1 | g.152313999C= | CA2479952770 | FLG | c.887G= (p.Arg296=) n.541C= |