| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152310913_152310972dup | CA2647993604 | FLG | c.3924_3983dup (p.Arg1327_Gln1328insHisProGlyPheHisGlnGluAspArgAlaSerHisGlyHisSerAlaAspSerSerArg) | gnomAD v4 |
| 1 | g.152310949G>A | CA1106437 | FLG | c.3937C>T (p.Gln1313Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310949G>C | CA342080216 | FLG | c.3937C>G (p.Gln1313Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310949G= | CA1143894901 | FLG | c.3937C= (p.Gln1313=) | |
| 1 | g.152310949G>T | CA342080220 | FLG | c.3937C>A (p.Gln1313Lys) | gnomAD v4 |
| 1 | g.152310950A= | CA1141459123 | FLG | c.3936T= (p.His1312=) | |
| 1 | g.152310950A>C | CA342080224 | FLG | c.3936T>G (p.His1312Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310950A>G | CA420930471 | FLG | c.3936T>C (p.His1312=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310950A>T | CA1106438 | FLG | c.3936T>A (p.His1312Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310951T>A | CA342080234 | FLG | c.3935A>T (p.His1312Leu) | |
| 1 | g.152310951T>C | CA342080237 | FLG | c.3935A>G (p.His1312Arg) | |
| 1 | g.152310951T>G | CA342080235 | FLG | c.3935A>C (p.His1312Pro) | |
| 1 | g.152310952G>A | CA342080243 | FLG | c.3934C>T (p.His1312Tyr) | |
| 1 | g.152310952G>C | CA342080247 | FLG | c.3934C>G (p.His1312Asp) | |
| 1 | g.152310952G>T | CA342080245 | FLG | c.3934C>A (p.His1312Asn) | |
| 1 | g.152310953G>A | CA420930475 | FLG | c.3933C>T (p.Phe1311=) | gnomAD v4 |
| 1 | g.152310953G>C | CA342080250 | FLG | c.3933C>G (p.Phe1311Leu) | |
| 1 | g.152310953G>T | CA342080253 | FLG | c.3933C>A (p.Phe1311Leu) | |
| 1 | g.152310954A= | CA1140844009 | FLG | c.3932T= (p.Phe1311=) | |
| 1 | g.152310954A>C | CA342080263 | FLG | c.3932T>G (p.Phe1311Cys) | |
| 1 | g.152310954A>G | CA1106439 | FLG | c.3932T>C (p.Phe1311Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310954A>T | CA342080271 | FLG | c.3932T>A (p.Phe1311Tyr) | |
| 1 | g.152310955A= | CA2479950856 | FLG | c.3931T= (p.Phe1311=) | |
| 1 | g.152310955A>C | CA342080276 | FLG | c.3931T>G (p.Phe1311Val) | |
| 1 | g.152310955A>G | CA342080279 | FLG | c.3931T>C (p.Phe1311Leu) | gnomAD v4 |
| 1 | g.152310955A>T | CA1106441 | FLG | c.3931T>A (p.Phe1311Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310955_152310956delinsAC | CA2479950855 | FLG | c.3930_3931delinsGT (p.Gly1310=) | |
| 1 | g.152310956C>A | CA420930480 | FLG | c.3930G>T (p.Gly1310=) | |
| 1 | g.152310956C= | CA1148480197 | FLG | c.3930G= (p.Gly1310=) | |
| 1 | g.152310956C>G | CA420930479 | FLG | c.3930G>C (p.Gly1310=) | |
| 1 | g.152310956C>T | CA1106442 | FLG | c.3930G>A (p.Gly1310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310956_152310958delinsCCC | CA1148466990 | FLG | c.3928_3930delinsGGG (p.Gly1310=) | |
| 1 | g.152310958del | CA1106440 | FLG | c.3930del (p.Phe1311SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310957C>A | CA342080301 | FLG | c.3929G>T (p.Gly1310Val) | gnomAD v4 |
| 1 | g.152310957C= | CA2479950857 | FLG | c.3929G= (p.Gly1310=) | |
| 1 | g.152310957C>G | CA342080296 | FLG | c.3929G>C (p.Gly1310Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310957C>T | CA342080291 | FLG | c.3929G>A (p.Gly1310Glu) | |
| 1 | g.152310958C>A | CA342080304 | FLG | c.3928G>T (p.Gly1310Trp) | |
| 1 | g.152310958C= | CA2479950858 | FLG | c.3928G= (p.Gly1310=) | |
| 1 | g.152310958C>G | CA342080308 | FLG | c.3928G>C (p.Gly1310Arg) | |
| 1 | g.152310958C>T | CA1106443 | FLG | c.3928G>A (p.Gly1310Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310959A= | CA2479950860 | FLG | c.3927T= (p.Pro1309=) | |
| 1 | g.152310959A>C | CA420930484 | FLG | c.3927T>G (p.Pro1309=) | COSMIC |
| 1 | g.152310959A>G | CA1106444 | FLG | c.3927T>C (p.Pro1309=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310959A>T | CA1106445 | FLG | c.3927T>A (p.Pro1309=) | dbSNP ExAC gnomAD v2 |
| 1 | g.152310960G>A | CA342080322 | FLG | c.3926C>T (p.Pro1309Leu) | dbSNP |
| 1 | g.152310960G>C | CA1106446 | FLG | c.3926C>G (p.Pro1309Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310960G= | CA1143943468 | FLG | c.3926C= (p.Pro1309=) | |
| 1 | g.152310960G>T | CA1106447 | FLG | c.3926C>A (p.Pro1309His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310961G>A | CA342080335 | FLG | c.3925C>T (p.Pro1309Ser) | COSMIC |