| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152304895T>A | CA342074092 | FLG | c.9991A>T (p.Arg3331Ter) c.9108+883A>T (n.9108+883A>T) | |
| 1 | g.152304895T>C | CA1103594 | FLG | c.9991A>G (p.Arg3331Gly) c.9108+883A>G (n.9108+883A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304895T>G | CA420927359 | FLG | c.9991A>C (p.Arg3331=) c.9108+883A>C (n.9108+883A>C) | |
| 1 | g.152304895T= | CA1142044582 | FLG | c.9991A= (p.Arg3331=) c.9108+883A= (n.9108+883A=) | |
| 1 | g.152304896A= | CA2479947708 | FLG | c.9990T= (p.Ser3330=) c.9108+882T= (n.9108+882T=) | |
| 1 | g.152304896A>C | CA342074097 | FLG | c.9990T>G (p.Ser3330Arg) c.9108+882T>G (n.9108+882T>G) | |
| 1 | g.152304896A>G | CA1103595 | FLG | c.9990T>C (p.Ser3330=) c.9108+882T>C (n.9108+882T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304896A>T | CA342074105 | FLG | c.9990T>A (p.Ser3330Arg) c.9108+882T>A (n.9108+882T>A) | |
| 1 | g.152304897C>A | CA342074108 | FLG | c.9989G>T (p.Ser3330Ile) c.9108+881G>T (n.9108+881G>T) | |
| 1 | g.152304897C= | CA2479947709 | FLG | c.9989G= (p.Ser3330=) c.9108+881G= (n.9108+881G=) | |
| 1 | g.152304897C>G | CA342074112 | FLG | c.9989G>C (p.Ser3330Thr) c.9108+881G>C (n.9108+881G>C) | dbSNP |
| 1 | g.152304897C>T | CA342074121 | FLG | c.9989G>A (p.Ser3330Asn) c.9108+881G>A (n.9108+881G>A) | dbSNP |
| 1 | g.152304898T>A | CA342074129 | FLG | c.9988A>T (p.Ser3330Cys) c.9108+880A>T (n.9108+880A>T) | gnomAD v4 |
| 1 | g.152304898T>C | CA30602602 | FLG | c.9988A>G (p.Ser3330Gly) c.9108+880A>G (n.9108+880A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304898T>G | CA342074126 | FLG | c.9988A>C (p.Ser3330Arg) c.9108+880A>C (n.9108+880A>C) | |
| 1 | g.152304898T= | CA1141292970 | FLG | c.9988A= (p.Ser3330=) c.9108+880A= (n.9108+880A=) | |
| 1 | g.152304899G>A | CA420926645 | FLG | c.9987C>T (p.Asp3329=) c.9108+879C>T (n.9108+879C>T) | |
| 1 | g.152304899G>C | CA342074138 | FLG | c.9987C>G (p.Asp3329Glu) c.9108+879C>G (n.9108+879C>G) | gnomAD v4 COSMIC |
| 1 | g.152304899G= | CA2479947710 | FLG | c.9987C= (p.Asp3329=) c.9108+879C= (n.9108+879C=) | |
| 1 | g.152304899G>T | CA342074142 | FLG | c.9987C>A (p.Asp3329Glu) c.9108+879C>A (n.9108+879C>A) | dbSNP |
| 1 | g.152304900T>A | CA342074143 | FLG | c.9986A>T (p.Asp3329Val) c.9108+878A>T (n.9108+878A>T) | |
| 1 | g.152304900T>C | CA342074144 | FLG | c.9986A>G (p.Asp3329Gly) c.9108+878A>G (n.9108+878A>G) | dbSNP gnomAD v4 |
| 1 | g.152304900T>G | CA342074145 | FLG | c.9986A>C (p.Asp3329Ala) c.9108+878A>C (n.9108+878A>C) | |
| 1 | g.152304900T= | CA2479947711 | FLG | c.9986A= (p.Asp3329=) c.9108+878A= (n.9108+878A=) | |
| 1 | g.152304901C>A | CA342074146 | FLG | c.9985G>T (p.Asp3329Tyr) c.9108+877G>T (n.9108+877G>T) | gnomAD v4 |
| 1 | g.152304901C= | CA2479947712 | FLG | c.9985G= (p.Asp3329=) c.9108+877G= (n.9108+877G=) | |
| 1 | g.152304901C>G | CA1103596 | FLG | c.9985G>C (p.Asp3329His) c.9108+877G>C (n.9108+877G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304901C>T | CA342074148 | FLG | c.9985G>A (p.Asp3329Asn) c.9108+877G>A (n.9108+877G>A) | |
| 1 | g.152304902T>A | CA342074151 | FLG | c.9984A>T (p.Arg3328Ser) c.9108+876A>T (n.9108+876A>T) | |
| 1 | g.152304902T>C | CA420926652 | FLG | c.9984A>G (p.Arg3328=) c.9108+876A>G (n.9108+876A>G) | |
| 1 | g.152304902T>G | CA342074154 | FLG | c.9984A>C (p.Arg3328Ser) c.9108+876A>C (n.9108+876A>C) | |
| 1 | g.152304903C>A | CA342074158 | FLG | c.9983G>T (p.Arg3328Ile) c.9108+875G>T (n.9108+875G>T) | |
| 1 | g.152304903C>G | CA342074167 | FLG | c.9983G>C (p.Arg3328Thr) c.9108+875G>C (n.9108+875G>C) | |
| 1 | g.152304903C>T | CA342074170 | FLG | c.9983G>A (p.Arg3328Lys) c.9108+875G>A (n.9108+875G>A) | dbSNP gnomAD v4 |
| 1 | g.152304904T>A | CA342074173 | FLG | c.9982A>T (p.Arg3328Ter) c.9108+874A>T (n.9108+874A>T) | |
| 1 | g.152304904T>C | CA342074174 | FLG | c.9982A>G (p.Arg3328Gly) c.9108+874A>G (n.9108+874A>G) | |
| 1 | g.152304904T>G | CA420926658 | FLG | c.9982A>C (p.Arg3328=) c.9108+874A>C (n.9108+874A>C) | |
| 1 | g.152304905G>A | CA420926659 | FLG | c.9981C>T (p.Val3327=) c.9108+873C>T (n.9108+873C>T) | |
| 1 | g.152304905G>C | CA420926661 | FLG | c.9981C>G (p.Val3327=) c.9108+873C>G (n.9108+873C>G) | |
| 1 | g.152304905G>T | CA420926663 | FLG | c.9981C>A (p.Val3327=) c.9108+873C>A (n.9108+873C>A) | |
| 1 | g.152304906A= | CA2479947713 | FLG | c.9980T= (p.Val3327=) c.9108+872T= (n.9108+872T=) | |
| 1 | g.152304906A>C | CA342074175 | FLG | c.9980T>G (p.Val3327Gly) c.9108+872T>G (n.9108+872T>G) | |
| 1 | g.152304906A>G | CA342074180 | FLG | c.9980T>C (p.Val3327Ala) c.9108+872T>C (n.9108+872T>C) | |
| 1 | g.152304906A>T | CA342074177 | FLG | c.9980T>A (p.Val3327Asp) c.9108+872T>A (n.9108+872T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304907C>A | CA1103597 | FLG | c.9979G>T (p.Val3327Phe) c.9108+871G>T (n.9108+871G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304907C= | CA2479947714 | FLG | c.9979G= (p.Val3327=) c.9108+871G= (n.9108+871G=) | |
| 1 | g.152304907C>G | CA342074190 | FLG | c.9979G>C (p.Val3327Leu) c.9108+871G>C (n.9108+871G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304907C>T | CA342074205 | FLG | c.9979G>A (p.Val3327Ile) c.9108+871G>A (n.9108+871G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304908T>A | CA420926668 | FLG | c.9978A>T (p.Ala3326=) c.9108+870A>T (n.9108+870A>T) | |
| 1 | g.152304908T>C | CA420926669 | FLG | c.9978A>G (p.Ala3326=) c.9108+870A>G (n.9108+870A>G) | |
| 1 | g.152304908T>G | CA420926672 | FLG | c.9978A>C (p.Ala3326=) c.9108+870A>C (n.9108+870A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304908T= | CA2479947715 | FLG | c.9978A= (p.Ala3326=) c.9108+870A= (n.9108+870A=) | |
| 1 | g.152304909G>A | CA1103598 | FLG | c.9977C>T (p.Ala3326Val) c.9108+869C>T (n.9108+869C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304909G>C | CA342074208 | FLG | c.9977C>G (p.Ala3326Gly) c.9108+869C>G (n.9108+869C>G) | gnomAD v4 |
| 1 | g.152304909G= | CA2479947716 | FLG | c.9977C= (p.Ala3326=) c.9108+869C= (n.9108+869C=) | |
| 1 | g.152304909G>T | CA342074211 | FLG | c.9977C>A (p.Ala3326Glu) c.9108+869C>A (n.9108+869C>A) | |
| 1 | g.152304910C>A | CA342074217 | FLG | c.9976G>T (p.Ala3326Ser) c.9108+868G>T (n.9108+868G>T) | |
| 1 | g.152304910C>G | CA342074220 | FLG | c.9976G>C (p.Ala3326Pro) c.9108+868G>C (n.9108+868G>C) | |
| 1 | g.152304910C>T | CA342074222 | FLG | c.9976G>A (p.Ala3326Thr) c.9108+868G>A (n.9108+868G>A) | gnomAD v4 |
| 1 | g.152304911A= | CA2479947717 | FLG | c.9975T= (p.Ser3325=) c.9108+867T= (n.9108+867T=) | |
| 1 | g.152304911A>C | CA420926675 | FLG | c.9975T>G (p.Ser3325=) c.9108+867T>G (n.9108+867T>G) | dbSNP |
| 1 | g.152304911A>G | CA420926677 | FLG | c.9975T>C (p.Ser3325=) c.9108+867T>C (n.9108+867T>C) | |
| 1 | g.152304911A>T | CA420926679 | FLG | c.9975T>A (p.Ser3325=) c.9108+867T>A (n.9108+867T>A) | gnomAD v4 |
| 1 | g.152304912G>A | CA342074235 | FLG | c.9974C>T (p.Ser3325Phe) c.9108+866C>T (n.9108+866C>T) | |
| 1 | g.152304912G>C | CA342074237 | FLG | c.9974C>G (p.Ser3325Cys) c.9108+866C>G (n.9108+866C>G) | |
| 1 | g.152304912G= | CA2479947718 | FLG | c.9974C= (p.Ser3325=) c.9108+866C= (n.9108+866C=) | |
| 1 | g.152304912G>T | CA342074239 | FLG | c.9974C>A (p.Ser3325Tyr) c.9108+866C>A (n.9108+866C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304913A= | CA2479947719 | FLG | c.9973T= (p.Ser3325=) c.9108+865T= (n.9108+865T=) | |
| 1 | g.152304913A>C | CA342074243 | FLG | c.9973T>G (p.Ser3325Ala) c.9108+865T>G (n.9108+865T>G) | |
| 1 | g.152304913A>G | CA342074249 | FLG | c.9973T>C (p.Ser3325Pro) c.9108+865T>C (n.9108+865T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304913A>T | CA342074245 | FLG | c.9973T>A (p.Ser3325Thr) c.9108+865T>A (n.9108+865T>A) | |
| 1 | g.152304914T>A | CA1103599 | FLG | c.9972A>T (p.Ser3324=) c.9108+864A>T (n.9108+864A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304914T>C | CA420926684 | FLG | c.9972A>G (p.Ser3324=) c.9108+864A>G (n.9108+864A>G) | |
| 1 | g.152304914T>G | CA420926685 | FLG | c.9972A>C (p.Ser3324=) c.9108+864A>C (n.9108+864A>C) | |
| 1 | g.152304914T= | CA2479947720 | FLG | c.9972A= (p.Ser3324=) c.9108+864A= (n.9108+864A=) | |
| 1 | g.152304915G>A | CA1103600 | FLG | c.9971C>T (p.Ser3324Leu) c.9108+863C>T (n.9108+863C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304915G>C | CA342074255 | FLG | c.9971C>G (p.Ser3324Ter) c.9108+863C>G (n.9108+863C>G) | |
| 1 | g.152304915G= | CA1141922490 | FLG | c.9971C= (p.Ser3324=) c.9108+863C= (n.9108+863C=) | |
| 1 | g.152304915G>T | CA342074256 | FLG | c.9971C>A (p.Ser3324Ter) c.9108+863C>A (n.9108+863C>A) | |
| 1 | g.152304916A>C | CA342074257 | FLG | c.9970T>G (p.Ser3324Ala) c.9108+862T>G (n.9108+862T>G) | |
| 1 | g.152304916A>G | CA342074258 | FLG | c.9970T>C (p.Ser3324Pro) c.9108+862T>C (n.9108+862T>C) | gnomAD v4 |
| 1 | g.152304916A>T | CA342074259 | FLG | c.9970T>A (p.Ser3324Thr) c.9108+862T>A (n.9108+862T>A) | |
| 1 | g.152304917A= | CA1146634638 | FLG | c.9969T= (p.Ala3323=) c.9108+861T= (n.9108+861T=) | |
| 1 | g.152304917A>C | CA420926689 | FLG | c.9969T>G (p.Ala3323=) c.9108+861T>G (n.9108+861T>G) | gnomAD v4 |
| 1 | g.152304917A>G | CA1103601 | FLG | c.9969T>C (p.Ala3323=) c.9108+861T>C (n.9108+861T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304917A>T | CA420926687 | FLG | c.9969T>A (p.Ala3323=) c.9108+861T>A (n.9108+861T>A) | |
| 1 | g.152304918G>A | CA342074262 | FLG | c.9968C>T (p.Ala3323Val) c.9108+860C>T (n.9108+860C>T) | gnomAD v4 |
| 1 | g.152304918G>C | CA1103602 | FLG | c.9968C>G (p.Ala3323Gly) c.9108+860C>G (n.9108+860C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304918G= | CA2479947721 | FLG | c.9968C= (p.Ala3323=) c.9108+860C= (n.9108+860C=) | |
| 1 | g.152304918G>T | CA342074267 | FLG | c.9968C>A (p.Ala3323Asp) c.9108+860C>A (n.9108+860C>A) | |
| 1 | g.152304919C>A | CA342074279 | FLG | c.9967G>T (p.Ala3323Ser) c.9108+859G>T (n.9108+859G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304919C= | CA2479947722 | FLG | c.9967G= (p.Ala3323=) c.9108+859G= (n.9108+859G=) | |
| 1 | g.152304919C>G | CA342074277 | FLG | c.9967G>C (p.Ala3323Pro) c.9108+859G>C (n.9108+859G>C) | gnomAD v4 |
| 1 | g.152304919C>T | CA1103603 | FLG | c.9967G>A (p.Ala3323Thr) c.9108+859G>A (n.9108+859G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304920T>A | CA342074282 | FLG | c.9966A>T (p.Gln3322His) c.9108+858A>T (n.9108+858A>T) | dbSNP |
| 1 | g.152304920T>C | CA1103604 | FLG | c.9966A>G (p.Gln3322=) c.9108+858A>G (n.9108+858A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304920T>G | CA342074288 | FLG | c.9966A>C (p.Gln3322His) c.9108+858A>C (n.9108+858A>C) | |
| 1 | g.152304920T= | CA1140094308 | FLG | c.9966A= (p.Gln3322=) c.9108+858A= (n.9108+858A=) | |
| 1 | g.152304921T>A | CA342074291 | FLG | c.9965A>T (p.Gln3322Leu) c.9108+857A>T (n.9108+857A>T) | |
| 1 | g.152304921T>C | CA342074295 | FLG | c.9965A>G (p.Gln3322Arg) c.9108+857A>G (n.9108+857A>G) | |
| 1 | g.152304921T>G | CA342074299 | FLG | c.9965A>C (p.Gln3322Pro) c.9108+857A>C (n.9108+857A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304921T= | CA2479947723 | FLG | c.9965A= (p.Gln3322=) c.9108+857A= (n.9108+857A=) | |
| 1 | g.152304922G>A | CA30602649 | FLG | c.9964C>T (p.Gln3322Ter) c.9108+856C>T (n.9108+856C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304922G>C | CA342074308 | FLG | c.9964C>G (p.Gln3322Glu) c.9108+856C>G (n.9108+856C>G) | |
| 1 | g.152304922G= | CA1146275046 | FLG | c.9964C= (p.Gln3322=) c.9108+856C= (n.9108+856C=) | |
| 1 | g.152304922G>T | CA342074312 | FLG | c.9964C>A (p.Gln3322Lys) c.9108+856C>A (n.9108+856C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304923T>A | CA420926697 | FLG | c.9963A>T (p.Gly3321=) c.9108+855A>T (n.9108+855A>T) | |
| 1 | g.152304923T>C | CA420926700 | FLG | c.9963A>G (p.Gly3321=) c.9108+855A>G (n.9108+855A>G) | |
| 1 | g.152304923T>G | CA420926701 | FLG | c.9963A>C (p.Gly3321=) c.9108+855A>C (n.9108+855A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304923T= | CA2479947724 | FLG | c.9963A= (p.Gly3321=) c.9108+855A= (n.9108+855A=) | |
| 1 | g.152304924C>A | CA342074323 | FLG | c.9962G>T (p.Gly3321Val) c.9108+854G>T (n.9108+854G>T) | |
| 1 | g.152304924C>G | CA342074326 | FLG | c.9962G>C (p.Gly3321Ala) c.9108+854G>C (n.9108+854G>C) | |
| 1 | g.152304924C>T | CA342074332 | FLG | c.9962G>A (p.Gly3321Glu) c.9108+854G>A (n.9108+854G>A) | |
| 1 | g.152304925C>A | CA342074337 | FLG | c.9961G>T (p.Gly3321Ter) c.9108+853G>T (n.9108+853G>T) | |
| 1 | g.152304925C= | CA2479947725 | FLG | c.9961G= (p.Gly3321=) c.9108+853G= (n.9108+853G=) | |
| 1 | g.152304925C>G | CA342074344 | FLG | c.9961G>C (p.Gly3321Arg) c.9108+853G>C (n.9108+853G>C) | |
| 1 | g.152304925C>T | CA342074341 | FLG | c.9961G>A (p.Gly3321Arg) c.9108+853G>A (n.9108+853G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304926A= | CA1143486052 | FLG | c.9960T= (p.Arg3320=) c.9108+852T= (n.9108+852T=) | |
| 1 | g.152304926A>C | CA420926707 | FLG | c.9960T>G (p.Arg3320=) c.9108+852T>G (n.9108+852T>G) | gnomAD v4 |
| 1 | g.152304926A>G | CA1103605 | FLG | c.9960T>C (p.Arg3320=) c.9108+852T>C (n.9108+852T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304926A>T | CA420926708 | FLG | c.9960T>A (p.Arg3320=) c.9108+852T>A (n.9108+852T>A) | |
| 1 | g.152304927C>A | CA1103607 | FLG | c.9959G>T (p.Arg3320Leu) c.9108+851G>T (n.9108+851G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304927C= | CA1143383943 | FLG | c.9959G= (p.Arg3320=) c.9108+851G= (n.9108+851G=) | |
| 1 | g.152304927C>G | CA342074349 | FLG | c.9959G>C (p.Arg3320Pro) c.9108+851G>C (n.9108+851G>C) | |
| 1 | g.152304927C>T | CA1103606 | FLG | c.9959G>A (p.Arg3320His) c.9108+851G>A (n.9108+851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304928G>A | CA1103608 | FLG | c.9958C>T (p.Arg3320Cys) c.9108+850C>T (n.9108+850C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304928G>C | CA342074355 | FLG | c.9958C>G (p.Arg3320Gly) c.9108+850C>G (n.9108+850C>G) | dbSNP gnomAD v2 |
| 1 | g.152304928G= | CA2479947726 | FLG | c.9958C= (p.Arg3320=) c.9108+850C= (n.9108+850C=) | |
| 1 | g.152304928G>T | CA342074358 | FLG | c.9958C>A (p.Arg3320Ser) c.9108+850C>A (n.9108+850C>A) | |
| 1 | g.152304929C>A | CA420926711 | FLG | c.9957G>T (p.Pro3319=) c.9108+849G>T (n.9108+849G>T) | gnomAD v4 |
| 1 | g.152304929C= | CA2479947727 | FLG | c.9957G= (p.Pro3319=) c.9108+849G= (n.9108+849G=) | |
| 1 | g.152304929C>G | CA420926712 | FLG | c.9957G>C (p.Pro3319=) c.9108+849G>C (n.9108+849G>C) | |
| 1 | g.152304929C>T | CA1103609 | FLG | c.9957G>A (p.Pro3319=) c.9108+849G>A (n.9108+849G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304930G>A | CA1103611 | FLG | c.9956C>T (p.Pro3319Leu) c.9108+848C>T (n.9108+848C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304930G>C | CA1103610 | FLG | c.9956C>G (p.Pro3319Arg) c.9108+848C>G (n.9108+848C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304930G= | CA1141623134 | FLG | c.9956C= (p.Pro3319=) c.9108+848C= (n.9108+848C=) | |
| 1 | g.152304930G>T | CA342074369 | FLG | c.9956C>A (p.Pro3319Gln) c.9108+848C>A (n.9108+848C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304931G>A | CA342074370 | FLG | c.9955C>T (p.Pro3319Ser) c.9108+847C>T (n.9108+847C>T) | |
| 1 | g.152304931G>C | CA1103612 | FLG | c.9955C>G (p.Pro3319Ala) c.9108+847C>G (n.9108+847C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304931G= | CA1143520122 | FLG | c.9955C= (p.Pro3319=) c.9108+847C= (n.9108+847C=) | |
| 1 | g.152304931G>T | CA342074371 | FLG | c.9955C>A (p.Pro3319Thr) c.9108+847C>A (n.9108+847C>A) | |
| 1 | g.152304932A>C | CA342074372 | FLG | c.9954T>G (p.Ile3318Met) c.9108+846T>G (n.9108+846T>G) | |
| 1 | g.152304932A>G | CA420926717 | FLG | c.9954T>C (p.Ile3318=) c.9108+846T>C (n.9108+846T>C) | |
| 1 | g.152304932A>T | CA420926718 | FLG | c.9954T>A (p.Ile3318=) c.9108+846T>A (n.9108+846T>A) | |
| 1 | g.152304933A= | CA1142048012 | FLG | c.9953T= (p.Ile3318=) c.9108+845T= (n.9108+845T=) | |
| 1 | g.152304933A>C | CA342074373 | FLG | c.9953T>G (p.Ile3318Ser) c.9108+845T>G (n.9108+845T>G) | |
| 1 | g.152304933A>G | CA1103613 | FLG | c.9953T>C (p.Ile3318Thr) c.9108+845T>C (n.9108+845T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304933A>T | CA342074378 | FLG | c.9953T>A (p.Ile3318Asn) c.9108+845T>A (n.9108+845T>A) | |
| 1 | g.152304934T>A | CA342074382 | FLG | c.9952A>T (p.Ile3318Phe) c.9108+844A>T (n.9108+844A>T) | gnomAD v4 |
| 1 | g.152304934T>C | CA342074387 | FLG | c.9952A>G (p.Ile3318Val) c.9108+844A>G (n.9108+844A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304934T>G | CA342074384 | FLG | c.9952A>C (p.Ile3318Leu) c.9108+844A>C (n.9108+844A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304934T= | CA2479947728 | FLG | c.9952A= (p.Ile3318=) c.9108+844A= (n.9108+844A=) | |
| 1 | g.152304935G>A | CA420926723 | FLG | c.9951C>T (p.Gly3317=) c.9108+843C>T (n.9108+843C>T) | |
| 1 | g.152304935G>C | CA420926724 | FLG | c.9951C>G (p.Gly3317=) c.9108+843C>G (n.9108+843C>G) | dbSNP |
| 1 | g.152304935G= | CA2479947729 | FLG | c.9951C= (p.Gly3317=) c.9108+843C= (n.9108+843C=) | |
| 1 | g.152304935G>T | CA420926725 | FLG | c.9951C>A (p.Gly3317=) c.9108+843C>A (n.9108+843C>A) | gnomAD v4 |
| 1 | g.152304936C>A | CA342074395 | FLG | c.9950G>T (p.Gly3317Val) c.9108+842G>T (n.9108+842G>T) | |
| 1 | g.152304936C>G | CA342074397 | FLG | c.9950G>C (p.Gly3317Ala) c.9108+842G>C (n.9108+842G>C) | |
| 1 | g.152304936C>T | CA342074400 | FLG | c.9950G>A (p.Gly3317Asp) c.9108+842G>A (n.9108+842G>A) | |
| 1 | g.152304937C>A | CA342074402 | FLG | c.9949G>T (p.Gly3317Cys) c.9108+841G>T (n.9108+841G>T) | |
| 1 | g.152304937C= | CA2479947730 | FLG | c.9949G= (p.Gly3317=) c.9108+841G= (n.9108+841G=) | |
| 1 | g.152304937C>G | CA30602680 | FLG | c.9949G>C (p.Gly3317Arg) c.9108+841G>C (n.9108+841G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304937C>T | CA342074407 | FLG | c.9949G>A (p.Gly3317Ser) c.9108+841G>A (n.9108+841G>A) | |
| 1 | g.152304938T>A | CA420926727 | FLG | c.9948A>T (p.Ser3316=) c.9108+840A>T (n.9108+840A>T) | |
| 1 | g.152304938T>C | CA1103614 | FLG | c.9948A>G (p.Ser3316=) c.9108+840A>G (n.9108+840A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304938T>G | CA420926726 | FLG | c.9948A>C (p.Ser3316=) c.9108+840A>C (n.9108+840A>C) | |
| 1 | g.152304938T= | CA2479947731 | FLG | c.9948A= (p.Ser3316=) c.9108+840A= (n.9108+840A=) | |
| 1 | g.152304939G>A | CA342074416 | FLG | c.9947C>T (p.Ser3316Leu) c.9108+839C>T (n.9108+839C>T) | |
| 1 | g.152304939G>C | CA1103615 | FLG | c.9947C>G (p.Ser3316Ter) c.9108+839C>G (n.9108+839C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304939G= | CA1142305986 | FLG | c.9947C= (p.Ser3316=) c.9108+839C= (n.9108+839C=) | |
| 1 | g.152304939G>T | CA342074419 | FLG | c.9947C>A (p.Ser3316Ter) c.9108+839C>A (n.9108+839C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304940A>C | CA342074428 | FLG | c.9946T>G (p.Ser3316Ala) c.9108+838T>G (n.9108+838T>G) | |
| 1 | g.152304940A>G | CA342074425 | FLG | c.9946T>C (p.Ser3316Pro) c.9108+838T>C (n.9108+838T>C) | |
| 1 | g.152304940A>T | CA342074422 | FLG | c.9946T>A (p.Ser3316Thr) c.9108+838T>A (n.9108+838T>A) | |
| 1 | g.152304941G>A | CA420926732 | FLG | c.9945C>T (p.His3315=) c.9108+837C>T (n.9108+837C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304941G>C | CA1103616 | FLG | c.9945C>G (p.His3315Gln) c.9108+837C>G (n.9108+837C>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.152304941G= | CA2479947732 | FLG | c.9945C= (p.His3315=) c.9108+837C= (n.9108+837C=) | |
| 1 | g.152304941G>T | CA342074439 | FLG | c.9945C>A (p.His3315Gln) c.9108+837C>A (n.9108+837C>A) | |
| 1 | g.152304942T>A | CA342074443 | FLG | c.9944A>T (p.His3315Leu) c.9108+836A>T (n.9108+836A>T) | |
| 1 | g.152304942T>C | CA342074447 | FLG | c.9944A>G (p.His3315Arg) c.9108+836A>G (n.9108+836A>G) | |
| 1 | g.152304942T>G | CA342074451 | FLG | c.9944A>C (p.His3315Pro) c.9108+836A>C (n.9108+836A>C) | COSMIC |
| 1 | g.152304943G>A | CA342074457 | FLG | c.9943C>T (p.His3315Tyr) c.9108+835C>T (n.9108+835C>T) | dbSNP gnomAD v4 |
| 1 | g.152304943G>C | CA342074459 | FLG | c.9943C>G (p.His3315Asp) c.9108+835C>G (n.9108+835C>G) | |
| 1 | g.152304943G= | CA2479947733 | FLG | c.9943C= (p.His3315=) c.9108+835C= (n.9108+835C=) | |
| 1 | g.152304943G>T | CA342074461 | FLG | c.9943C>A (p.His3315Asn) c.9108+835C>A (n.9108+835C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304944T>A | CA342074463 | FLG | c.9942A>T (p.Arg3314Ser) c.9108+834A>T (n.9108+834A>T) | |
| 1 | g.152304944T>C | CA420926736 | FLG | c.9942A>G (p.Arg3314=) c.9108+834A>G (n.9108+834A>G) | |
| 1 | g.152304944T>G | CA342074464 | FLG | c.9942A>C (p.Arg3314Ser) c.9108+834A>C (n.9108+834A>C) | |
| 1 | g.152304945C>A | CA342074465 | FLG | c.9941G>T (p.Arg3314Ile) c.9108+833G>T (n.9108+833G>T) | |
| 1 | g.152304945C>G | CA342074466 | FLG | c.9941G>C (p.Arg3314Thr) c.9108+833G>C (n.9108+833G>C) | |
| 1 | g.152304945C>T | CA342074467 | FLG | c.9941G>A (p.Arg3314Lys) c.9108+833G>A (n.9108+833G>A) | gnomAD v4 |
| 1 | g.152304946T>A | CA342074469 | FLG | c.9940A>T (p.Arg3314Ter) c.9108+832A>T (n.9108+832A>T) | COSMIC |
| 1 | g.152304946T>C | CA1103617 | FLG | c.9940A>G (p.Arg3314Gly) c.9108+832A>G (n.9108+832A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304946T>G | CA420926739 | FLG | c.9940A>C (p.Arg3314=) c.9108+832A>C (n.9108+832A>C) | |
| 1 | g.152304946T= | CA2479947734 | FLG | c.9940A= (p.Arg3314=) c.9108+832A= (n.9108+832A=) | |
| 1 | g.152304947G>A | CA420926741 | FLG | c.9939C>T (p.Ser3313=) c.9108+831C>T (n.9108+831C>T) | |
| 1 | g.152304947G>C | CA420926742 | FLG | c.9939C>G (p.Ser3313=) c.9108+831C>G (n.9108+831C>G) | |
| 1 | g.152304947G>T | CA420926743 | FLG | c.9939C>A (p.Ser3313=) c.9108+831C>A (n.9108+831C>A) | |
| 1 | g.152304948G>A | CA342074473 | FLG | c.9938C>T (p.Ser3313Phe) c.9108+830C>T (n.9108+830C>T) | gnomAD v4 |
| 1 | g.152304948G>C | CA1103618 | FLG | c.9938C>G (p.Ser3313Cys) c.9108+830C>G (n.9108+830C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304948G= | CA2479947735 | FLG | c.9938C= (p.Ser3313=) c.9108+830C= (n.9108+830C=) | |
| 1 | g.152304948G>T | CA342074475 | FLG | c.9938C>A (p.Ser3313Tyr) c.9108+830C>A (n.9108+830C>A) | dbSNP |
| 1 | g.152304949A= | CA2479947736 | FLG | c.9937T= (p.Ser3313=) c.9108+829T= (n.9108+829T=) | |
| 1 | g.152304949A>C | CA342074478 | FLG | c.9937T>G (p.Ser3313Ala) c.9108+829T>G (n.9108+829T>G) | gnomAD v4 |
| 1 | g.152304949A>G | CA342074485 | FLG | c.9937T>C (p.Ser3313Pro) c.9108+829T>C (n.9108+829T>C) | dbSNP |
| 1 | g.152304949A>T | CA342074489 | FLG | c.9937T>A (p.Ser3313Thr) c.9108+829T>A (n.9108+829T>A) | |
| 1 | g.152304950G>A | CA420926746 | FLG | c.9936C>T (p.Ser3312=) c.9108+828C>T (n.9108+828C>T) | |
| 1 | g.152304950G>C | CA342074493 | FLG | c.9936C>G (p.Ser3312Arg) c.9108+828C>G (n.9108+828C>G) | |
| 1 | g.152304950G>T | CA342074500 | FLG | c.9936C>A (p.Ser3312Arg) c.9108+828C>A (n.9108+828C>A) | |
| 1 | g.152304951C>A | CA342074503 | FLG | c.9935G>T (p.Ser3312Ile) c.9108+827G>T (n.9108+827G>T) | |
| 1 | g.152304951C= | CA2479947737 | FLG | c.9935G= (p.Ser3312=) c.9108+827G= (n.9108+827G=) | |
| 1 | g.152304951C>G | CA342074505 | FLG | c.9935G>C (p.Ser3312Thr) c.9108+827G>C (n.9108+827G>C) | dbSNP |
| 1 | g.152304951C>T | CA342074507 | FLG | c.9935G>A (p.Ser3312Asn) c.9108+827G>A (n.9108+827G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304952T>A | CA342074511 | FLG | c.9934A>T (p.Ser3312Cys) c.9108+826A>T (n.9108+826A>T) | dbSNP |
| 1 | g.152304952T>C | CA342074514 | FLG | c.9934A>G (p.Ser3312Gly) c.9108+826A>G (n.9108+826A>G) | |
| 1 | g.152304952T>G | CA342074518 | FLG | c.9934A>C (p.Ser3312Arg) c.9108+826A>C (n.9108+826A>C) | |
| 1 | g.152304952T= | CA2479947738 | FLG | c.9934A= (p.Ser3312=) c.9108+826A= (n.9108+826A=) | |
| 1 | g.152304953G>A | CA420926748 | FLG | c.9933C>T (p.Asp3311=) c.9108+825C>T (n.9108+825C>T) | |
| 1 | g.152304953G>C | CA342074521 | FLG | c.9933C>G (p.Asp3311Glu) c.9108+825C>G (n.9108+825C>G) | |
| 1 | g.152304953G>T | CA342074524 | FLG | c.9933C>A (p.Asp3311Glu) c.9108+825C>A (n.9108+825C>A) | |
| 1 | g.152304954T>A | CA342074527 | FLG | c.9932A>T (p.Asp3311Val) c.9108+824A>T (n.9108+824A>T) | |
| 1 | g.152304954T>C | CA342074534 | FLG | c.9932A>G (p.Asp3311Gly) c.9108+824A>G (n.9108+824A>G) | |
| 1 | g.152304954T>G | CA342074532 | FLG | c.9932A>C (p.Asp3311Ala) c.9108+824A>C (n.9108+824A>C) | |
| 1 | g.152304955C>A | CA342074538 | FLG | c.9931G>T (p.Asp3311Tyr) c.9108+823G>T (n.9108+823G>T) | |
| 1 | g.152304955C>G | CA342074541 | FLG | c.9931G>C (p.Asp3311His) c.9108+823G>C (n.9108+823G>C) | |
| 1 | g.152304955C>T | CA342074543 | FLG | c.9931G>A (p.Asp3311Asn) c.9108+823G>A (n.9108+823G>A) | |
| 1 | g.152304956T>A | CA420926749 | FLG | c.9930A>T (p.Ala3310=) c.9108+822A>T (n.9108+822A>T) | |
| 1 | g.152304956T>C | CA420926751 | FLG | c.9930A>G (p.Ala3310=) c.9108+822A>G (n.9108+822A>G) | dbSNP gnomAD v4 |
| 1 | g.152304956T>G | CA420926753 | FLG | c.9930A>C (p.Ala3310=) c.9108+822A>C (n.9108+822A>C) | |
| 1 | g.152304956T= | CA2479947739 | FLG | c.9930A= (p.Ala3310=) c.9108+822A= (n.9108+822A=) | |
| 1 | g.152304959_152305091del | CA526662124 | FLG | c.9798_9930del (p.His3266GlnfsTer?) c.9108+690_9108+822del (n.9108+690_9108+822del) | gnomAD v2 |
| 1 | g.152304957G>A | CA1103619 | FLG | c.9929C>T (p.Ala3310Val) c.9108+821C>T (n.9108+821C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304957G>C | CA342074549 | FLG | c.9929C>G (p.Ala3310Gly) c.9108+821C>G (n.9108+821C>G) | gnomAD v4 |
| 1 | g.152304957G= | CA2479947740 | FLG | c.9929C= (p.Ala3310=) c.9108+821C= (n.9108+821C=) | |
| 1 | g.152304957G>T | CA342074553 | FLG | c.9929C>A (p.Ala3310Glu) c.9108+821C>A (n.9108+821C>A) | dbSNP gnomAD v4 |
| 1 | g.152304958C>A | CA342074554 | FLG | c.9928G>T (p.Ala3310Ser) c.9108+820G>T (n.9108+820G>T) | |
| 1 | g.152304958C= | CA2479947741 | FLG | c.9928G= (p.Ala3310=) c.9108+820G= (n.9108+820G=) | |
| 1 | g.152304958C>G | CA342074555 | FLG | c.9928G>C (p.Ala3310Pro) c.9108+820G>C (n.9108+820G>C) | dbSNP |
| 1 | g.152304958C>T | CA342074556 | FLG | c.9928G>A (p.Ala3310Thr) c.9108+820G>A (n.9108+820G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304959T>A | CA420926759 | FLG | c.9927A>T (p.Ser3309=) c.9108+819A>T (n.9108+819A>T) | |
| 1 | g.152304959T>C | CA420926761 | FLG | c.9927A>G (p.Ser3309=) c.9108+819A>G (n.9108+819A>G) | |
| 1 | g.152304959T>G | CA420926760 | FLG | c.9927A>C (p.Ser3309=) c.9108+819A>C (n.9108+819A>C) | |
| 1 | g.152304960G>A | CA342074558 | FLG | c.9926C>T (p.Ser3309Leu) c.9108+818C>T (n.9108+818C>T) | |
| 1 | g.152304960G>C | CA342074561 | FLG | c.9926C>G (p.Ser3309Ter) c.9108+818C>G (n.9108+818C>G) | dbSNP |
| 1 | g.152304960G= | CA2479947742 | FLG | c.9926C= (p.Ser3309=) c.9108+818C= (n.9108+818C=) | |
| 1 | g.152304960G>T | CA342074563 | FLG | c.9926C>A (p.Ser3309Ter) c.9108+818C>A (n.9108+818C>A) | |
| 1 | g.152304961A>C | CA342074584 | FLG | c.9925T>G (p.Ser3309Ala) c.9108+817T>G (n.9108+817T>G) | |
| 1 | g.152304961A>G | CA342074567 | FLG | c.9925T>C (p.Ser3309Pro) c.9108+817T>C (n.9108+817T>C) | gnomAD v4 |
| 1 | g.152304961A>T | CA342074574 | FLG | c.9925T>A (p.Ser3309Thr) c.9108+817T>A (n.9108+817T>A) | |
| 1 | g.152304962C>A | CA342074589 | FLG | c.9924G>T (p.Gln3308His) c.9108+816G>T (n.9108+816G>T) | gnomAD v4 |
| 1 | g.152304962C>G | CA342074590 | FLG | c.9924G>C (p.Gln3308His) c.9108+816G>C (n.9108+816G>C) | |
| 1 | g.152304962C>T | CA420926764 | FLG | c.9924G>A (p.Gln3308=) c.9108+816G>A (n.9108+816G>A) | |
| 1 | g.152304963T>A | CA1103620 | FLG | c.9923A>T (p.Gln3308Leu) c.9108+815A>T (n.9108+815A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304963T>C | CA342074597 | FLG | c.9923A>G (p.Gln3308Arg) c.9108+815A>G (n.9108+815A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304963T>G | CA342074600 | FLG | c.9923A>C (p.Gln3308Pro) c.9108+815A>C (n.9108+815A>C) | gnomAD v4 |
| 1 | g.152304963T= | CA1141894834 | FLG | c.9923A= (p.Gln3308=) c.9108+815A= (n.9108+815A=) | |
| 1 | g.152304964G>A | CA342074603 | FLG | c.9922C>T (p.Gln3308Ter) c.9108+814C>T (n.9108+814C>T) | |
| 1 | g.152304964G>C | CA1103621 | FLG | c.9922C>G (p.Gln3308Glu) c.9108+814C>G (n.9108+814C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304964G= | CA1148463973 | FLG | c.9922C= (p.Gln3308=) c.9108+814C= (n.9108+814C=) | |
| 1 | g.152304964G>T | CA342074608 | FLG | c.9922C>A (p.Gln3308Lys) c.9108+814C>A (n.9108+814C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304964_152304965insGAG | CA2581934940 | FLG | c.9922_9923insTCC (p.Gln3307_Gln3308insLeu) c.9108+814_9108+815insTCC (n.9108+814_9108+815insTCC) | |
| 1 | g.152304965C>A | CA342074611 | FLG | c.9921G>T (p.Gln3307His) c.9108+813G>T (n.9108+813G>T) | |
| 1 | g.152304965C= | CA1143742104 | FLG | c.9921G= (p.Gln3307=) c.9108+813G= (n.9108+813G=) | |
| 1 | g.152304965C>G | CA342074615 | FLG | c.9921G>C (p.Gln3307His) c.9108+813G>C (n.9108+813G>C) | |
| 1 | g.152304965C>T | CA1103622 | FLG | c.9921G>A (p.Gln3307=) c.9108+813G>A (n.9108+813G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304966T>A | CA342074632 | FLG | c.9920A>T (p.Gln3307Leu) c.9108+812A>T (n.9108+812A>T) | |
| 1 | g.152304966T>C | CA342074633 | FLG | c.9920A>G (p.Gln3307Arg) c.9108+812A>G (n.9108+812A>G) | dbSNP |
| 1 | g.152304966T>G | CA342074631 | FLG | c.9920A>C (p.Gln3307Pro) c.9108+812A>C (n.9108+812A>C) | |
| 1 | g.152304967G>A | CA342074634 | FLG | c.9919C>T (p.Gln3307Ter) c.9108+811C>T (n.9108+811C>T) | dbSNP |
| 1 | g.152304967G>C | CA342074635 | FLG | c.9919C>G (p.Gln3307Glu) c.9108+811C>G (n.9108+811C>G) | |
| 1 | g.152304967G= | CA2479947743 | FLG | c.9919C= (p.Gln3307=) c.9108+811C= (n.9108+811C=) | |
| 1 | g.152304967G>T | CA342074637 | FLG | c.9919C>A (p.Gln3307Lys) c.9108+811C>A (n.9108+811C>A) | COSMIC |
| 1 | g.152304968G>A | CA420926770 | FLG | c.9918C>T (p.His3306=) c.9108+810C>T (n.9108+810C>T) | gnomAD v4 |
| 1 | g.152304968G>C | CA342074639 | FLG | c.9918C>G (p.His3306Gln) c.9108+810C>G (n.9108+810C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304968G= | CA2479947744 | FLG | c.9918C= (p.His3306=) c.9108+810C= (n.9108+810C=) | |
| 1 | g.152304968G>T | CA1103623 | FLG | c.9918C>A (p.His3306Gln) c.9108+810C>A (n.9108+810C>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.152304969T>A | CA342074653 | FLG | c.9917A>T (p.His3306Leu) c.9108+809A>T (n.9108+809A>T) | |
| 1 | g.152304969T>C | CA342074649 | FLG | c.9917A>G (p.His3306Arg) c.9108+809A>G (n.9108+809A>G) | |
| 1 | g.152304969T>G | CA342074646 | FLG | c.9917A>C (p.His3306Pro) c.9108+809A>C (n.9108+809A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304969T= | CA2479947745 | FLG | c.9917A= (p.His3306=) c.9108+809A= (n.9108+809A=) | |
| 1 | g.152304970G>A | CA342074660 | FLG | c.9916C>T (p.His3306Tyr) c.9108+808C>T (n.9108+808C>T) | |
| 1 | g.152304970G>C | CA342074670 | FLG | c.9916C>G (p.His3306Asp) c.9108+808C>G (n.9108+808C>G) | |
| 1 | g.152304970G>T | CA342074674 | FLG | c.9916C>A (p.His3306Asn) c.9108+808C>A (n.9108+808C>A) | |
| 1 | g.152304971G>A | CA420926773 | FLG | c.9915C>T (p.Arg3305=) c.9108+807C>T (n.9108+807C>T) | |
| 1 | g.152304971G>C | CA420926775 | FLG | c.9915C>G (p.Arg3305=) c.9108+807C>G (n.9108+807C>G) | |
| 1 | g.152304971G= | CA2479947746 | FLG | c.9915C= (p.Arg3305=) c.9108+807C= (n.9108+807C=) | |
| 1 | g.152304971G>T | CA420926777 | FLG | c.9915C>A (p.Arg3305=) c.9108+807C>A (n.9108+807C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304972C>A | CA342074681 | FLG | c.9914G>T (p.Arg3305Leu) c.9108+806G>T (n.9108+806G>T) | |
| 1 | g.152304972C= | CA1142178946 | FLG | c.9914G= (p.Arg3305=) c.9108+806G= (n.9108+806G=) | |
| 1 | g.152304972C>G | CA342074683 | FLG | c.9914G>C (p.Arg3305Pro) c.9108+806G>C (n.9108+806G>C) | |
| 1 | g.152304972C>T | CA1103624 | FLG | c.9914G>A (p.Arg3305His) c.9108+806G>A (n.9108+806G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304973G>A | CA342074688 | FLG | c.9913C>T (p.Arg3305Cys) c.9108+805C>T (n.9108+805C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304973G>C | CA342074694 | FLG | c.9913C>G (p.Arg3305Gly) c.9108+805C>G (n.9108+805C>G) | gnomAD v4 |
| 1 | g.152304973G= | CA2479947747 | FLG | c.9913C= (p.Arg3305=) c.9108+805C= (n.9108+805C=) | |
| 1 | g.152304973G>T | CA342074691 | FLG | c.9913C>A (p.Arg3305Ser) c.9108+805C>A (n.9108+805C>A) | COSMIC |
| 1 | g.152304974G>A | CA420926779 | FLG | c.9912C>T (p.Ser3304=) c.9108+804C>T (n.9108+804C>T) | |
| 1 | g.152304974G>C | CA420926780 | FLG | c.9912C>G (p.Ser3304=) c.9108+804C>G (n.9108+804C>G) | |
| 1 | g.152304974G>T | CA420926781 | FLG | c.9912C>A (p.Ser3304=) c.9108+804C>A (n.9108+804C>A) | COSMIC |
| 1 | g.152304975G>A | CA1103625 | FLG | c.9911C>T (p.Ser3304Phe) c.9108+803C>T (n.9108+803C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304975G>C | CA342074702 | FLG | c.9911C>G (p.Ser3304Cys) c.9108+803C>G (n.9108+803C>G) | |
| 1 | g.152304975G= | CA2479947748 | FLG | c.9911C= (p.Ser3304=) c.9108+803C= (n.9108+803C=) | |
| 1 | g.152304975G>T | CA342074705 | FLG | c.9911C>A (p.Ser3304Tyr) c.9108+803C>A (n.9108+803C>A) | |
| 1 | g.152304975_152304976delinsGA | CA2479947749 | FLG | c.9910_9911delinsTC (p.Ser3304=) c.9108+802_9108+803delinsTC (n.9108+802_9108+803delinsTC) | |
| 1 | g.152304976del | CA526662125 | FLG | c.9910del (p.Ser3304ProfsTer?) c.9108+802del (n.9108+802del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304976A= | CA2479947750 | FLG | c.9910T= (p.Ser3304=) c.9108+802T= (n.9108+802T=) | |
| 1 | g.152304976A>C | CA342074706 | FLG | c.9910T>G (p.Ser3304Ala) c.9108+802T>G (n.9108+802T>G) | |
| 1 | g.152304976A>G | CA342074708 | FLG | c.9910T>C (p.Ser3304Pro) c.9108+802T>C (n.9108+802T>C) | dbSNP |
| 1 | g.152304976A>T | CA342074710 | FLG | c.9910T>A (p.Ser3304Thr) c.9108+802T>A (n.9108+802T>A) | |
| 1 | g.152304977T>A | CA420926783 | FLG | c.9909A>T (p.Gly3303=) c.9108+801A>T (n.9108+801A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304977T>C | CA420926785 | FLG | c.9909A>G (p.Gly3303=) c.9108+801A>G (n.9108+801A>G) | |
| 1 | g.152304977T>G | CA420926787 | FLG | c.9909A>C (p.Gly3303=) c.9108+801A>C (n.9108+801A>C) | |
| 1 | g.152304977T= | CA2479947751 | FLG | c.9909A= (p.Gly3303=) c.9108+801A= (n.9108+801A=) | |
| 1 | g.152304977_152304978delinsTC | CA2479947752 | FLG | c.9908_9909delinsGA (p.Gly3303=) c.9108+800_9108+801delinsGA (n.9108+800_9108+801delinsGA) | |
| 1 | g.152304978C>A | CA342074712 | FLG | c.9908G>T (p.Gly3303Val) c.9108+800G>T (n.9108+800G>T) | |
| 1 | g.152304978C>G | CA342074714 | FLG | c.9908G>C (p.Gly3303Ala) c.9108+800G>C (n.9108+800G>C) | |
| 1 | g.152304978C>T | CA342074716 | FLG | c.9908G>A (p.Gly3303Glu) c.9108+800G>A (n.9108+800G>A) | gnomAD v4 COSMIC |
| 1 | g.152304979del | CA2479947753 | FLG | c.9908del (p.Gly3303AspfsTer?) c.9108+800del (n.9108+800del) | dbSNP |
| 1 | g.152304979C>A | CA342074718 | FLG | c.9907G>T (p.Gly3303Ter) c.9108+799G>T (n.9108+799G>T) | |
| 1 | g.152304979C= | CA2479947754 | FLG | c.9907G= (p.Gly3303=) c.9108+799G= (n.9108+799G=) | |
| 1 | g.152304979C>G | CA342074720 | FLG | c.9907G>C (p.Gly3303Arg) c.9108+799G>C (n.9108+799G>C) | gnomAD v4 |
| 1 | g.152304979C>T | CA1103626 | FLG | c.9907G>A (p.Gly3303Arg) c.9108+799G>A (n.9108+799G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304980G>A | CA1103627 | FLG | c.9906C>T (p.His3302=) c.9108+798C>T (n.9108+798C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304980G>C | CA342074723 | FLG | c.9906C>G (p.His3302Gln) c.9108+798C>G (n.9108+798C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304980G= | CA1142050982 | FLG | c.9906C= (p.His3302=) c.9108+798C= (n.9108+798C=) | |
| 1 | g.152304980G>T | CA342074726 | FLG | c.9906C>A (p.His3302Gln) c.9108+798C>A (n.9108+798C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304981T>A | CA30602741 | FLG | c.9905A>T (p.His3302Leu) c.9108+797A>T (n.9108+797A>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.152304981T>C | CA342074739 | FLG | c.9905A>G (p.His3302Arg) c.9108+797A>G (n.9108+797A>G) | |
| 1 | g.152304981T>G | CA342074736 | FLG | c.9905A>C (p.His3302Pro) c.9108+797A>C (n.9108+797A>C) | |
| 1 | g.152304981T= | CA2479947755 | FLG | c.9905A= (p.His3302=) c.9108+797A= (n.9108+797A=) | |
| 1 | g.152304982G>A | CA342074749 | FLG | c.9904C>T (p.His3302Tyr) c.9108+796C>T (n.9108+796C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304982G>C | CA342074751 | FLG | c.9904C>G (p.His3302Asp) c.9108+796C>G (n.9108+796C>G) | |
| 1 | g.152304982G= | CA2479947756 | FLG | c.9904C= (p.His3302=) c.9108+796C= (n.9108+796C=) | |
| 1 | g.152304982G>T | CA342074755 | FLG | c.9904C>A (p.His3302Asn) c.9108+796C>A (n.9108+796C>A) | |
| 1 | g.152304983T>A | CA342074758 | FLG | c.9903A>T (p.Arg3301Ser) c.9108+795A>T (n.9108+795A>T) | |
| 1 | g.152304983T>C | CA420926794 | FLG | c.9903A>G (p.Arg3301=) c.9108+795A>G (n.9108+795A>G) | |
| 1 | g.152304983T>G | CA342074764 | FLG | c.9903A>C (p.Arg3301Ser) c.9108+795A>C (n.9108+795A>C) | |
| 1 | g.152304984C>A | CA1103628 | FLG | c.9902G>T (p.Arg3301Ile) c.9108+794G>T (n.9108+794G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304984C= | CA2479947757 | FLG | c.9902G= (p.Arg3301=) c.9108+794G= (n.9108+794G=) | |
| 1 | g.152304984C>G | CA342074767 | FLG | c.9902G>C (p.Arg3301Thr) c.9108+794G>C (n.9108+794G>C) | |
| 1 | g.152304984C>T | CA342074769 | FLG | c.9902G>A (p.Arg3301Lys) c.9108+794G>A (n.9108+794G>A) | gnomAD v4 |
| 1 | g.152304985T>A | CA342074772 | FLG | c.9901A>T (p.Arg3301Ter) c.9108+793A>T (n.9108+793A>T) | ClinVar gnomAD v4 |
| 1 | g.152304985T>C | CA342074775 | FLG | c.9901A>G (p.Arg3301Gly) c.9108+793A>G (n.9108+793A>G) | gnomAD v4 |
| 1 | g.152304985T>G | CA420926798 | FLG | c.9901A>C (p.Arg3301=) c.9108+793A>C (n.9108+793A>C) | gnomAD v4 |
| 1 | g.152304986C>A | CA342074778 | FLG | c.9900G>T (p.Glu3300Asp) c.9108+792G>T (n.9108+792G>T) | |
| 1 | g.152304986C= | CA1147042453 | FLG | c.9900G= (p.Glu3300=) c.9108+792G= (n.9108+792G=) | |
| 1 | g.152304986C>G | CA342074781 | FLG | c.9900G>C (p.Glu3300Asp) c.9108+792G>C (n.9108+792G>C) | dbSNP |
| 1 | g.152304986C>T | CA1103629 | FLG | c.9900G>A (p.Glu3300=) c.9108+792G>A (n.9108+792G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304987T>A | CA342074789 | FLG | c.9899A>T (p.Glu3300Val) c.9108+791A>T (n.9108+791A>T) | |
| 1 | g.152304987T>C | CA342074787 | FLG | c.9899A>G (p.Glu3300Gly) c.9108+791A>G (n.9108+791A>G) | |
| 1 | g.152304987T>G | CA342074784 | FLG | c.9899A>C (p.Glu3300Ala) c.9108+791A>C (n.9108+791A>C) | |
| 1 | g.152304988C>A | CA342074794 | FLG | c.9898G>T (p.Glu3300Ter) c.9108+790G>T (n.9108+790G>T) | |
| 1 | g.152304988C>G | CA342074797 | FLG | c.9898G>C (p.Glu3300Gln) c.9108+790G>C (n.9108+790G>C) | COSMIC |
| 1 | g.152304988C>T | CA342074799 | FLG | c.9898G>A (p.Glu3300Lys) c.9108+790G>A (n.9108+790G>A) | |
| 1 | g.152304989T>A | CA420926804 | FLG | c.9897A>T (p.Gly3299=) c.9108+789A>T (n.9108+789A>T) | |
| 1 | g.152304989T>C | CA420926805 | FLG | c.9897A>G (p.Gly3299=) c.9108+789A>G (n.9108+789A>G) | |
| 1 | g.152304989T>G | CA420926808 | FLG | c.9897A>C (p.Gly3299=) c.9108+789A>C (n.9108+789A>C) | |
| 1 | g.152304990C>A | CA342074803 | FLG | c.9896G>T (p.Gly3299Val) c.9108+788G>T (n.9108+788G>T) | |
| 1 | g.152304990C= | CA2479947758 | FLG | c.9896G= (p.Gly3299=) c.9108+788G= (n.9108+788G=) | |
| 1 | g.152304990C>G | CA342074805 | FLG | c.9896G>C (p.Gly3299Ala) c.9108+788G>C (n.9108+788G>C) | dbSNP gnomAD v2 |
| 1 | g.152304990C>T | CA342074810 | FLG | c.9896G>A (p.Gly3299Glu) c.9108+788G>A (n.9108+788G>A) | |
| 1 | g.152304991C>A | CA342074815 | FLG | c.9895G>T (p.Gly3299Ter) c.9108+787G>T (n.9108+787G>T) | |
| 1 | g.152304991C= | CA2479947760 | FLG | c.9895G= (p.Gly3299=) c.9108+787G= (n.9108+787G=) | |
| 1 | g.152304991C>G | CA342074818 | FLG | c.9895G>C (p.Gly3299Arg) c.9108+787G>C (n.9108+787G>C) | gnomAD v4 |
| 1 | g.152304991C>T | CA342074821 | FLG | c.9895G>A (p.Gly3299Arg) c.9108+787G>A (n.9108+787G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304991_152304992delinsCT | CA2479947759 | FLG | c.9894_9895delinsAG (p.Pro3298=) c.9108+786_9108+787delinsAG (n.9108+786_9108+787delinsAG) | |
| 1 | g.152304992del | CA1103630 | FLG | c.9894del (p.Gly3299GlufsTer?) c.9108+786del (n.9108+786del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304992T>A | CA420926814 | FLG | c.9894A>T (p.Pro3298=) c.9108+786A>T (n.9108+786A>T) | |
| 1 | g.152304992T>C | CA420926813 | FLG | c.9894A>G (p.Pro3298=) c.9108+786A>G (n.9108+786A>G) | |
| 1 | g.152304992T>G | CA420926816 | FLG | c.9894A>C (p.Pro3298=) c.9108+786A>C (n.9108+786A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304992T= | CA2479947761 | FLG | c.9894A= (p.Pro3298=) c.9108+786A= (n.9108+786A=) | |
| 1 | g.152304993G>A | CA342074825 | FLG | c.9893C>T (p.Pro3298Leu) c.9108+785C>T (n.9108+785C>T) | COSMIC |
| 1 | g.152304993G>C | CA342074827 | FLG | c.9893C>G (p.Pro3298Arg) c.9108+785C>G (n.9108+785C>G) | |
| 1 | g.152304993G>T | CA342074829 | FLG | c.9893C>A (p.Pro3298Gln) c.9108+785C>A (n.9108+785C>A) | COSMIC |
| 1 | g.152304994G>A | CA342074834 | FLG | c.9892C>T (p.Pro3298Ser) c.9108+784C>T (n.9108+784C>T) | |
| 1 | g.152304994G>C | CA1103631 | FLG | c.9892C>G (p.Pro3298Ala) c.9108+784C>G (n.9108+784C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304994G= | CA1142076435 | FLG | c.9892C= (p.Pro3298=) c.9108+784C= (n.9108+784C=) | |
| 1 | g.152304994G>T | CA342074832 | FLG | c.9892C>A (p.Pro3298Thr) c.9108+784C>A (n.9108+784C>A) | |
| 1 | g.152304995A= | CA2479947763 | FLG | c.9891T= (p.Ser3297=) c.9108+783T= (n.9108+783T=) | |
| 1 | g.152304995A>C | CA342074838 | FLG | c.9891T>G (p.Ser3297Arg) c.9108+783T>G (n.9108+783T>G) | gnomAD v4 |
| 1 | g.152304995A>G | CA1103632 | FLG | c.9891T>C (p.Ser3297=) c.9108+783T>C (n.9108+783T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304995A>T | CA342074843 | FLG | c.9891T>A (p.Ser3297Arg) c.9108+783T>A (n.9108+783T>A) | |
| 1 | g.152304995_152304996delinsAC | CA2479947762 | FLG | c.9890_9891delinsGT (p.Ser3297=) c.9108+782_9108+783delinsGT (n.9108+782_9108+783delinsGT) |