| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152311048_152311049delinsAG | CA2479951163 | FLG | c.3837_3838delinsCT (p.His1279=) | |
| 1 | g.152311049del | CA16616974 | FLG | c.3837del (p.Ser1280GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.152311049G>A | CA420930046 | FLG | c.3837C>T (p.His1279=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311049G>C | CA342080838 | FLG | c.3837C>G (p.His1279Gln) | |
| 1 | g.152311049G= | CA2479951164 | FLG | c.3837C= (p.His1279=) | |
| 1 | g.152311049G>T | CA342080841 | FLG | c.3837C>A (p.His1279Gln) | |
| 1 | g.152311050T>A | CA342080844 | FLG | c.3836A>T (p.His1279Leu) | |
| 1 | g.152311050T>C | CA342080848 | FLG | c.3836A>G (p.His1279Arg) | |
| 1 | g.152311050T>G | CA342080846 | FLG | c.3836A>C (p.His1279Pro) | |
| 1 | g.152311051G>A | CA342080849 | FLG | c.3835C>T (p.His1279Tyr) | |
| 1 | g.152311051G>C | CA342080850 | FLG | c.3835C>G (p.His1279Asp) | |
| 1 | g.152311051G= | CA2479951165 | FLG | c.3835C= (p.His1279=) | |
| 1 | g.152311051G>T | CA342080852 | FLG | c.3835C>A (p.His1279Asn) | dbSNP |
| 1 | g.152311052T>A | CA342080855 | FLG | c.3834A>T (p.Arg1278Ser) | |
| 1 | g.152311052T>C | CA420930054 | FLG | c.3834A>G (p.Arg1278=) | dbSNP gnomAD v4 |
| 1 | g.152311052T>G | CA342080857 | FLG | c.3834A>C (p.Arg1278Ser) | |
| 1 | g.152311052T= | CA2479951166 | FLG | c.3834A= (p.Arg1278=) | |
| 1 | g.152311053C>A | CA342080860 | FLG | c.3833G>T (p.Arg1278Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311053C= | CA1142322776 | FLG | c.3833G= (p.Arg1278=) | |
| 1 | g.152311053C>G | CA1106493 | FLG | c.3833G>C (p.Arg1278Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311053C>T | CA342080863 | FLG | c.3833G>A (p.Arg1278Lys) | |
| 1 | g.152311054T>A | CA342080866 | FLG | c.3832A>T (p.Arg1278Ter) | |
| 1 | g.152311054T>C | CA1106494 | FLG | c.3832A>G (p.Arg1278Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311054T>G | CA420930062 | FLG | c.3832A>C (p.Arg1278=) | |
| 1 | g.152311054T= | CA1141217062 | FLG | c.3832A= (p.Arg1278=) | |
| 1 | g.152311055C>A | CA342080875 | FLG | c.3831G>T (p.Glu1277Asp) | |
| 1 | g.152311055C= | CA2479951167 | FLG | c.3831G= (p.Glu1277=) | |
| 1 | g.152311055C>G | CA342080873 | FLG | c.3831G>C (p.Glu1277Asp) | COSMIC |
| 1 | g.152311055C>T | CA1106495 | FLG | c.3831G>A (p.Glu1277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311056del | CA2647993619 | FLG | c.3830del (p.Glu1277GlyfsTer?) | gnomAD v4 |
| 1 | g.152311056T>A | CA342080878 | FLG | c.3830A>T (p.Glu1277Val) | |
| 1 | g.152311056T>C | CA342080882 | FLG | c.3830A>G (p.Glu1277Gly) | |
| 1 | g.152311056T>G | CA342080879 | FLG | c.3830A>C (p.Glu1277Ala) | |
| 1 | g.152311057C>A | CA342080884 | FLG | c.3829G>T (p.Glu1277Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311057C= | CA1141681427 | FLG | c.3829G= (p.Glu1277=) | |
| 1 | g.152311057C>G | CA1106496 | FLG | c.3829G>C (p.Glu1277Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311057C>T | CA342080887 | FLG | c.3829G>A (p.Glu1277Lys) | |
| 1 | g.152311058A= | CA2479951168 | FLG | c.3828T= (p.Ser1276=) | |
| 1 | g.152311058A>C | CA342080891 | FLG | c.3828T>G (p.Ser1276Arg) | |
| 1 | g.152311058A>G | CA420930071 | FLG | c.3828T>C (p.Ser1276=) | dbSNP gnomAD v4 |
| 1 | g.152311058A>T | CA342080893 | FLG | c.3828T>A (p.Ser1276Arg) | |
| 1 | g.152311059C>A | CA342080894 | FLG | c.3827G>T (p.Ser1276Ile) | gnomAD v4 |
| 1 | g.152311059C= | CA2479951169 | FLG | c.3827G= (p.Ser1276=) | |
| 1 | g.152311059C>G | CA1106497 | FLG | c.3827G>C (p.Ser1276Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311059C>T | CA342080897 | FLG | c.3827G>A (p.Ser1276Asn) | COSMIC |
| 1 | g.152311060T>A | CA342080899 | FLG | c.3826A>T (p.Ser1276Cys) | |
| 1 | g.152311060T>C | CA342080900 | FLG | c.3826A>G (p.Ser1276Gly) | |
| 1 | g.152311060T>G | CA342080901 | FLG | c.3826A>C (p.Ser1276Arg) | |
| 1 | g.152311061G>A | CA1106498 | FLG | c.3825C>T (p.Asp1275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311061G>C | CA342080906 | FLG | c.3825C>G (p.Asp1275Glu) |