Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304332G>A | CA420926567 | FLG | c.10554C>T (p.His3518=) c.9109-499C>T (n.9109-499C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304332G>C | CA342068932 | FLG | c.10554C>G (p.His3518Gln) c.9109-499C>G (n.9109-499C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304332G= | CA2479947394 | FLG | c.10554C= (p.His3518=) c.9109-499C= (n.9109-499C=) | |
1 | g.152304332G>T | CA342068934 | FLG | c.10554C>A (p.His3518Gln) c.9109-499C>A (n.9109-499C>A) | |
1 | g.152304332_152304333delinsGT | CA2479947393 | FLG | c.10553_10554delinsAC (p.His3518=) c.9109-500_9109-499delinsAC (n.9109-500_9109-499delinsAC) | |
1 | g.152304333del | CA1103293 | FLG | c.10553del (p.His3518ProfsTer?) c.9109-500del (n.9109-500del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304333T>A | CA342068946 | FLG | c.10553A>T (p.His3518Leu) c.9109-500A>T (n.9109-500A>T) | |
1 | g.152304333T>C | CA342068950 | FLG | c.10553A>G (p.His3518Arg) c.9109-500A>G (n.9109-500A>G) | |
1 | g.152304333T>G | CA1103294 | FLG | c.10553A>C (p.His3518Pro) c.9109-500A>C (n.9109-500A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304333T= | CA2479947395 | FLG | c.10553A= (p.His3518=) c.9109-500A= (n.9109-500A=) | |
1 | g.152304334G>A | CA1103295 | FLG | c.10552C>T (p.His3518Tyr) c.9109-501C>T (n.9109-501C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304334G>C | CA342068979 | FLG | c.10552C>G (p.His3518Asp) c.9109-501C>G (n.9109-501C>G) | |
1 | g.152304334G= | CA1148277474 | FLG | c.10552C= (p.His3518=) c.9109-501C= (n.9109-501C=) | |
1 | g.152304334G>T | CA1103296 | FLG | c.10552C>A (p.His3518Asn) c.9109-501C>A (n.9109-501C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304335T>A | CA342068987 | FLG | c.10551A>T (p.Arg3517Ser) c.9109-502A>T (n.9109-502A>T) | |
1 | g.152304335T>C | CA420926572 | FLG | c.10551A>G (p.Arg3517=) c.9109-502A>G (n.9109-502A>G) | |
1 | g.152304335T>G | CA342068986 | FLG | c.10551A>C (p.Arg3517Ser) c.9109-502A>C (n.9109-502A>C) | |
1 | g.152304336C>A | CA1103297 | FLG | c.10550G>T (p.Arg3517Ile) c.9109-503G>T (n.9109-503G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304336C= | CA1142429974 | FLG | c.10550G= (p.Arg3517=) c.9109-503G= (n.9109-503G=) | |
1 | g.152304336C>G | CA342068998 | FLG | c.10550G>C (p.Arg3517Thr) c.9109-503G>C (n.9109-503G>C) | dbSNP |
1 | g.152304336C>T | CA342068999 | FLG | c.10550G>A (p.Arg3517Lys) c.9109-503G>A (n.9109-503G>A) | gnomAD v4 |
1 | g.152304337T>A | CA342069000 | FLG | c.10549A>T (p.Arg3517Ter) c.9109-504A>T (n.9109-504A>T) | |
1 | g.152304337T>C | CA342069001 | FLG | c.10549A>G (p.Arg3517Gly) c.9109-504A>G (n.9109-504A>G) | |
1 | g.152304337T>G | CA420926577 | FLG | c.10549A>C (p.Arg3517=) c.9109-504A>C (n.9109-504A>C) | |
1 | g.152304338A= | CA1148441147 | FLG | c.10548T= (p.Ser3516=) c.9109-505T= (n.9109-505T=) | |
1 | g.152304338A>C | CA420926578 | FLG | c.10548T>G (p.Ser3516=) c.9109-505T>G (n.9109-505T>G) | |
1 | g.152304338A>G | CA1103298 | FLG | c.10548T>C (p.Ser3516=) c.9109-505T>C (n.9109-505T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304338A>T | CA420926581 | FLG | c.10548T>A (p.Ser3516=) c.9109-505T>A (n.9109-505T>A) | |
1 | g.152304339G>A | CA342069024 | FLG | c.10547C>T (p.Ser3516Phe) c.9109-506C>T (n.9109-506C>T) | COSMIC |
1 | g.152304339G>C | CA342069009 | FLG | c.10547C>G (p.Ser3516Cys) c.9109-506C>G (n.9109-506C>G) | dbSNP |
1 | g.152304339G= | CA2479947396 | FLG | c.10547C= (p.Ser3516=) c.9109-506C= (n.9109-506C=) | |
1 | g.152304339G>T | CA342069010 | FLG | c.10547C>A (p.Ser3516Tyr) c.9109-506C>A (n.9109-506C>A) | |
1 | g.152304340A>C | CA342069031 | FLG | c.10546T>G (p.Ser3516Ala) c.9109-507T>G (n.9109-507T>G) | |
1 | g.152304340A>G | CA342069033 | FLG | c.10546T>C (p.Ser3516Pro) c.9109-507T>C (n.9109-507T>C) | |
1 | g.152304340A>T | CA342069034 | FLG | c.10546T>A (p.Ser3516Thr) c.9109-507T>A (n.9109-507T>A) | |
1 | g.152304341G>A | CA420926583 | FLG | c.10545C>T (p.Ser3515=) c.9109-508C>T (n.9109-508C>T) | COSMIC |
1 | g.152304341G>C | CA342069035 | FLG | c.10545C>G (p.Ser3515Arg) c.9109-508C>G (n.9109-508C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304341G= | CA2479947397 | FLG | c.10545C= (p.Ser3515=) c.9109-508C= (n.9109-508C=) | |
1 | g.152304341G>T | CA342069036 | FLG | c.10545C>A (p.Ser3515Arg) c.9109-508C>A (n.9109-508C>A) | |
1 | g.152304342C>A | CA342069040 | FLG | c.10544G>T (p.Ser3515Ile) c.9109-509G>T (n.9109-509G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304342C= | CA2479947398 | FLG | c.10544G= (p.Ser3515=) c.9109-509G= (n.9109-509G=) | |
1 | g.152304342C>G | CA342069042 | FLG | c.10544G>C (p.Ser3515Thr) c.9109-509G>C (n.9109-509G>C) | gnomAD v4 |
1 | g.152304342C>T | CA342069044 | FLG | c.10544G>A (p.Ser3515Asn) c.9109-509G>A (n.9109-509G>A) | |
1 | g.152304343T>A | CA342069046 | FLG | c.10543A>T (p.Ser3515Cys) c.9109-510A>T (n.9109-510A>T) | |
1 | g.152304343T>C | CA342069049 | FLG | c.10543A>G (p.Ser3515Gly) c.9109-510A>G (n.9109-510A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304343T>G | CA1103299 | FLG | c.10543A>C (p.Ser3515Arg) c.9109-510A>C (n.9109-510A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304343T= | CA2479947399 | FLG | c.10543A= (p.Ser3515=) c.9109-510A= (n.9109-510A=) | |
1 | g.152304344G>A | CA420926587 | FLG | c.10542C>T (p.Asp3514=) c.9109-511C>T (n.9109-511C>T) | gnomAD v4 |
1 | g.152304344G>C | CA342069058 | FLG | c.10542C>G (p.Asp3514Glu) c.9109-511C>G (n.9109-511C>G) | gnomAD v4 COSMIC |
1 | g.152304344G>T | CA342069060 | FLG | c.10542C>A (p.Asp3514Glu) c.9109-511C>A (n.9109-511C>A) | |
1 | g.152304345T>A | CA342069063 | FLG | c.10541A>T (p.Asp3514Val) c.9109-512A>T (n.9109-512A>T) | gnomAD v4 |
1 | g.152304345T>C | CA342069071 | FLG | c.10541A>G (p.Asp3514Gly) c.9109-512A>G (n.9109-512A>G) | |
1 | g.152304345T>G | CA342069065 | FLG | c.10541A>C (p.Asp3514Ala) c.9109-512A>C (n.9109-512A>C) | |
1 | g.152304346C>A | CA342069076 | FLG | c.10540G>T (p.Asp3514Tyr) c.9109-513G>T (n.9109-513G>T) | |
1 | g.152304346C= | CA2479947400 | FLG | c.10540G= (p.Asp3514=) c.9109-513G= (n.9109-513G=) | |
1 | g.152304346C>G | CA342069078 | FLG | c.10540G>C (p.Asp3514His) c.9109-513G>C (n.9109-513G>C) | |
1 | g.152304346C>T | CA30600455 | FLG | c.10540G>A (p.Asp3514Asn) c.9109-513G>A (n.9109-513G>A) | dbSNP |
1 | g.152304347C>A | CA1103301 | FLG | c.10539G>T (p.Ala3513=) c.9109-514G>T (n.9109-514G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304347C= | CA1144585579 | FLG | c.10539G= (p.Ala3513=) c.9109-514G= (n.9109-514G=) | |
1 | g.152304347C>G | CA1103300 | FLG | c.10539G>C (p.Ala3513=) c.9109-514G>C (n.9109-514G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304347C>T | CA30600458 | FLG | c.10539G>A (p.Ala3513=) c.9109-514G>A (n.9109-514G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304348G>A | CA1103302 | FLG | c.10538C>T (p.Ala3513Val) c.9109-515C>T (n.9109-515C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304348G>C | CA342069087 | FLG | c.10538C>G (p.Ala3513Gly) c.9109-515C>G (n.9109-515C>G) | |
1 | g.152304348G= | CA1141919557 | FLG | c.10538C= (p.Ala3513=) c.9109-515C= (n.9109-515C=) | |
1 | g.152304348G>T | CA342069088 | FLG | c.10538C>A (p.Ala3513Glu) c.9109-515C>A (n.9109-515C>A) | |
1 | g.152304349C>A | CA342069089 | FLG | c.10537G>T (p.Ala3513Ser) c.9109-516G>T (n.9109-516G>T) | dbSNP |
1 | g.152304349C= | CA2479947401 | FLG | c.10537G= (p.Ala3513=) c.9109-516G= (n.9109-516G=) | |
1 | g.152304349C>G | CA342069093 | FLG | c.10537G>C (p.Ala3513Pro) c.9109-516G>C (n.9109-516G>C) | |
1 | g.152304349C>T | CA342069094 | FLG | c.10537G>A (p.Ala3513Thr) c.9109-516G>A (n.9109-516G>A) | gnomAD v4 |
1 | g.152304350C>A | CA342069097 | FLG | c.10536G>T (p.Gln3512His) c.9109-517G>T (n.9109-517G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304350C= | CA2479947402 | FLG | c.10536G= (p.Gln3512=) c.9109-517G= (n.9109-517G=) | |
1 | g.152304350C>G | CA342069098 | FLG | c.10536G>C (p.Gln3512His) c.9109-517G>C (n.9109-517G>C) | |
1 | g.152304350C>T | CA420926593 | FLG | c.10536G>A (p.Gln3512=) c.9109-517G>A (n.9109-517G>A) | COSMIC |
1 | g.152304351T>A | CA342069101 | FLG | c.10535A>T (p.Gln3512Leu) c.9109-518A>T (n.9109-518A>T) | |
1 | g.152304351T>C | CA1103303 | FLG | c.10535A>G (p.Gln3512Arg) c.9109-518A>G (n.9109-518A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304351T>G | CA342069105 | FLG | c.10535A>C (p.Gln3512Pro) c.9109-518A>C (n.9109-518A>C) | dbSNP gnomAD v4 |
1 | g.152304351T= | CA1147588279 | FLG | c.10535A= (p.Gln3512=) c.9109-518A= (n.9109-518A=) | |
1 | g.152304352G>A | CA1103304 | FLG | c.10534C>T (p.Gln3512Ter) c.9109-519C>T (n.9109-519C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304352G>C | CA1103305 | FLG | c.10534C>G (p.Gln3512Glu) c.9109-519C>G (n.9109-519C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304352G= | CA1144274083 | FLG | c.10534C= (p.Gln3512=) c.9109-519C= (n.9109-519C=) | |
1 | g.152304352G>T | CA342069115 | FLG | c.10534C>A (p.Gln3512Lys) c.9109-519C>A (n.9109-519C>A) | dbSNP |
1 | g.152304353A= | CA1142091343 | FLG | c.10533T= (p.Thr3511=) c.9109-520T= (n.9109-520T=) | |
1 | g.152304353A>C | CA420926594 | FLG | c.10533T>G (p.Thr3511=) c.9109-520T>G (n.9109-520T>G) | |
1 | g.152304353A>G | CA1103306 | FLG | c.10533T>C (p.Thr3511=) c.9109-520T>C (n.9109-520T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304353A>T | CA420926596 | FLG | c.10533T>A (p.Thr3511=) c.9109-520T>A (n.9109-520T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304354G>A | CA1103307 | FLG | c.10532C>T (p.Thr3511Ile) c.9109-521C>T (n.9109-521C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304354G>C | CA342069118 | FLG | c.10532C>G (p.Thr3511Ser) c.9109-521C>G (n.9109-521C>G) | |
1 | g.152304354G= | CA1143477613 | FLG | c.10532C= (p.Thr3511=) c.9109-521C= (n.9109-521C=) | |
1 | g.152304354G>T | CA342069120 | FLG | c.10532C>A (p.Thr3511Asn) c.9109-521C>A (n.9109-521C>A) | dbSNP |
1 | g.152304355T>A | CA1103308 | FLG | c.10531A>T (p.Thr3511Ser) c.9109-522A>T (n.9109-522A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304355T>C | CA342069125 | FLG | c.10531A>G (p.Thr3511Ala) c.9109-522A>G (n.9109-522A>G) | gnomAD v4 |
1 | g.152304355T>G | CA342069127 | FLG | c.10531A>C (p.Thr3511Pro) c.9109-522A>C (n.9109-522A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304355T= | CA1145810027 | FLG | c.10531A= (p.Thr3511=) c.9109-522A= (n.9109-522A=) | |
1 | g.152304356G>A | CA420926599 | FLG | c.10530C>T (p.Ser3510=) c.9109-523C>T (n.9109-523C>T) | dbSNP |
1 | g.152304356G>C | CA420926601 | FLG | c.10530C>G (p.Ser3510=) c.9109-523C>G (n.9109-523C>G) | |
1 | g.152304356G= | CA2479947403 | FLG | c.10530C= (p.Ser3510=) c.9109-523C= (n.9109-523C=) | |
1 | g.152304356G>T | CA420926602 | FLG | c.10530C>A (p.Ser3510=) c.9109-523C>A (n.9109-523C>A) | |
1 | g.152304357G>A | CA342069129 | FLG | c.10529C>T (p.Ser3510Phe) c.9109-524C>T (n.9109-524C>T) | dbSNP gnomAD v4 |
1 | g.152304357G>C | CA1103309 | FLG | c.10529C>G (p.Ser3510Cys) c.9109-524C>G (n.9109-524C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304357G= | CA2479947404 | FLG | c.10529C= (p.Ser3510=) c.9109-524C= (n.9109-524C=) | |
1 | g.152304357G>T | CA342069132 | FLG | c.10529C>A (p.Ser3510Tyr) c.9109-524C>A (n.9109-524C>A) | |
1 | g.152304358A>C | CA342069136 | FLG | c.10528T>G (p.Ser3510Ala) c.9109-525T>G (n.9109-525T>G) | |
1 | g.152304358A>G | CA342069144 | FLG | c.10528T>C (p.Ser3510Pro) c.9109-525T>C (n.9109-525T>C) | |
1 | g.152304358A>T | CA342069139 | FLG | c.10528T>A (p.Ser3510Thr) c.9109-525T>A (n.9109-525T>A) | |
1 | g.152304359A>C | CA420926607 | FLG | c.10527T>G (p.Ala3509=) c.9109-526T>G (n.9109-526T>G) | |
1 | g.152304359A>G | CA420926609 | FLG | c.10527T>C (p.Ala3509=) c.9109-526T>C (n.9109-526T>C) | |
1 | g.152304359A>T | CA420926611 | FLG | c.10527T>A (p.Ala3509=) c.9109-526T>A (n.9109-526T>A) | |
1 | g.152304360G>A | CA342069149 | FLG | c.10526C>T (p.Ala3509Val) c.9109-527C>T (n.9109-527C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304360G>C | CA342069151 | FLG | c.10526C>G (p.Ala3509Gly) c.9109-527C>G (n.9109-527C>G) | gnomAD v4 |
1 | g.152304360G= | CA2479947405 | FLG | c.10526C= (p.Ala3509=) c.9109-527C= (n.9109-527C=) | |
1 | g.152304360G>T | CA342069152 | FLG | c.10526C>A (p.Ala3509Asp) c.9109-527C>A (n.9109-527C>A) | |
1 | g.152304361C>A | CA342069157 | FLG | c.10525G>T (p.Ala3509Ser) c.9109-528G>T (n.9109-528G>T) | dbSNP gnomAD v4 |
1 | g.152304361C= | CA2479947406 | FLG | c.10525G= (p.Ala3509=) c.9109-528G= (n.9109-528G=) | |
1 | g.152304361C>G | CA342069160 | FLG | c.10525G>C (p.Ala3509Pro) c.9109-528G>C (n.9109-528G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304361C>T | CA342069162 | FLG | c.10525G>A (p.Ala3509Thr) c.9109-528G>A (n.9109-528G>A) | gnomAD v4 |
1 | g.152304362T>A | CA342069166 | FLG | c.10524A>T (p.Glu3508Asp) c.9109-529A>T (n.9109-529A>T) | |
1 | g.152304362T>C | CA1103310 | FLG | c.10524A>G (p.Glu3508=) c.9109-529A>G (n.9109-529A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304362T>G | CA342069167 | FLG | c.10524A>C (p.Glu3508Asp) c.9109-529A>C (n.9109-529A>C) | |
1 | g.152304362T= | CA1147312873 | FLG | c.10524A= (p.Glu3508=) c.9109-529A= (n.9109-529A=) | |
1 | g.152304363T>A | CA342069168 | FLG | c.10523A>T (p.Glu3508Val) c.9109-530A>T (n.9109-530A>T) | |
1 | g.152304363T>C | CA342069169 | FLG | c.10523A>G (p.Glu3508Gly) c.9109-530A>G (n.9109-530A>G) | |
1 | g.152304363T>G | CA342069172 | FLG | c.10523A>C (p.Glu3508Ala) c.9109-530A>C (n.9109-530A>C) | |
1 | g.152304364C>A | CA342069184 | FLG | c.10522G>T (p.Glu3508Ter) c.9109-531G>T (n.9109-531G>T) | |
1 | g.152304364C>G | CA342069180 | FLG | c.10522G>C (p.Glu3508Gln) c.9109-531G>C (n.9109-531G>C) | |
1 | g.152304364C>T | CA342069183 | FLG | c.10522G>A (p.Glu3508Lys) c.9109-531G>A (n.9109-531G>A) | COSMIC |
1 | g.152304365A= | CA2479947407 | FLG | c.10521T= (p.His3507=) c.9109-532T= (n.9109-532T=) | |
1 | g.152304365A>C | CA342069189 | FLG | c.10521T>G (p.His3507Gln) c.9109-532T>G (n.9109-532T>G) | |
1 | g.152304365A>G | CA420926616 | FLG | c.10521T>C (p.His3507=) c.9109-532T>C (n.9109-532T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304365A>T | CA342069195 | FLG | c.10521T>A (p.His3507Gln) c.9109-532T>A (n.9109-532T>A) | |
1 | g.152304366T>A | CA342069198 | FLG | c.10520A>T (p.His3507Leu) c.9109-533A>T (n.9109-533A>T) | |
1 | g.152304366T>C | CA342069201 | FLG | c.10520A>G (p.His3507Arg) c.9109-533A>G (n.9109-533A>G) | |
1 | g.152304366T>G | CA342069218 | FLG | c.10520A>C (p.His3507Pro) c.9109-533A>C (n.9109-533A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304366T= | CA2479947408 | FLG | c.10520A= (p.His3507=) c.9109-533A= (n.9109-533A=) | |
1 | g.152304367G>A | CA30600485 | FLG | c.10519C>T (p.His3507Tyr) c.9109-534C>T (n.9109-534C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304367G>C | CA342069227 | FLG | c.10519C>G (p.His3507Asp) c.9109-534C>G (n.9109-534C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304367G= | CA1144937993 | FLG | c.10519C= (p.His3507=) c.9109-534C= (n.9109-534C=) | |
1 | g.152304367G>T | CA342069230 | FLG | c.10519C>A (p.His3507Asn) c.9109-534C>A (n.9109-534C>A) | |
1 | g.152304368G>A | CA1103311 | FLG | c.10518C>T (p.His3506=) c.9109-535C>T (n.9109-535C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304368G>C | CA342069238 | FLG | c.10518C>G (p.His3506Gln) c.9109-535C>G (n.9109-535C>G) | |
1 | g.152304368G= | CA2479947409 | FLG | c.10518C= (p.His3506=) c.9109-535C= (n.9109-535C=) | |
1 | g.152304368G>T | CA1103312 | FLG | c.10518C>A (p.His3506Gln) c.9109-535C>A (n.9109-535C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304369T>A | CA342069252 | FLG | c.10517A>T (p.His3506Leu) c.9109-536A>T (n.9109-536A>T) | |
1 | g.152304369T>C | CA342069250 | FLG | c.10517A>G (p.His3506Arg) c.9109-536A>G (n.9109-536A>G) | gnomAD v4 |
1 | g.152304369T>G | CA1103313 | FLG | c.10517A>C (p.His3506Pro) c.9109-536A>C (n.9109-536A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304369T= | CA2479947410 | FLG | c.10517A= (p.His3506=) c.9109-536A= (n.9109-536A=) | |
1 | g.152304370G>A | CA1103314 | FLG | c.10516C>T (p.His3506Tyr) c.9109-537C>T (n.9109-537C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304370G>C | CA342069255 | FLG | c.10516C>G (p.His3506Asp) c.9109-537C>G (n.9109-537C>G) | |
1 | g.152304370G= | CA2479947411 | FLG | c.10516C= (p.His3506=) c.9109-537C= (n.9109-537C=) | |
1 | g.152304370G>T | CA342069260 | FLG | c.10516C>A (p.His3506Asn) c.9109-537C>A (n.9109-537C>A) | |
1 | g.152304371A= | CA2479947412 | FLG | c.10515T= (p.His3505=) c.9109-538T= (n.9109-538T=) | |
1 | g.152304371A>C | CA342069270 | FLG | c.10515T>G (p.His3505Gln) c.9109-538T>G (n.9109-538T>G) | |
1 | g.152304371A>G | CA420926623 | FLG | c.10515T>C (p.His3505=) c.9109-538T>C (n.9109-538T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304371A>T | CA1103315 | FLG | c.10515T>A (p.His3505Gln) c.9109-538T>A (n.9109-538T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304372T>A | CA342069277 | FLG | c.10514A>T (p.His3505Leu) c.9109-539A>T (n.9109-539A>T) | |
1 | g.152304372T>C | CA1103316 | FLG | c.10514A>G (p.His3505Arg) c.9109-539A>G (n.9109-539A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304372T>G | CA342069281 | FLG | c.10514A>C (p.His3505Pro) c.9109-539A>C (n.9109-539A>C) | |
1 | g.152304372T= | CA1140416063 | FLG | c.10514A= (p.His3505=) c.9109-539A= (n.9109-539A=) | |
1 | g.152304373G>A | CA342069296 | FLG | c.10513C>T (p.His3505Tyr) c.9109-540C>T (n.9109-540C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304373G>C | CA342069304 | FLG | c.10513C>G (p.His3505Asp) c.9109-540C>G (n.9109-540C>G) | |
1 | g.152304373G= | CA2479947413 | FLG | c.10513C= (p.His3505=) c.9109-540C= (n.9109-540C=) | |
1 | g.152304373G>T | CA342069299 | FLG | c.10513C>A (p.His3505Asn) c.9109-540C>A (n.9109-540C>A) | gnomAD v4 |
1 | g.152304374C>A | CA420926626 | FLG | c.10512G>T (p.Ser3504=) c.9109-541G>T (n.9109-541G>T) | gnomAD v4 COSMIC |
1 | g.152304374C= | CA1141674621 | FLG | c.10512G= (p.Ser3504=) c.9109-541G= (n.9109-541G=) | |
1 | g.152304374C>G | CA420926627 | FLG | c.10512G>C (p.Ser3504=) c.9109-541G>C (n.9109-541G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304374C>T | CA1103317 | FLG | c.10512G>A (p.Ser3504=) c.9109-541G>A (n.9109-541G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304375G>A | CA342069313 | FLG | c.10511C>T (p.Ser3504Leu) c.9109-542C>T (n.9109-542C>T) | dbSNP gnomAD v4 COSMIC |
1 | g.152304375G>C | CA1103318 | FLG | c.10511C>G (p.Ser3504Trp) c.9109-542C>G (n.9109-542C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304375G= | CA1149070837 | FLG | c.10511C= (p.Ser3504=) c.9109-542C= (n.9109-542C=) | |
1 | g.152304375G>T | CA342069316 | FLG | c.10511C>A (p.Ser3504Ter) c.9109-542C>A (n.9109-542C>A) | |
1 | g.152304376A= | CA2479947414 | FLG | c.10510T= (p.Ser3504=) c.9109-543T= (n.9109-543T=) | |
1 | g.152304376A>C | CA342069319 | FLG | c.10510T>G (p.Ser3504Ala) c.9109-543T>G (n.9109-543T>G) | |
1 | g.152304376A>G | CA342069326 | FLG | c.10510T>C (p.Ser3504Pro) c.9109-543T>C (n.9109-543T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304376A>T | CA342069322 | FLG | c.10510T>A (p.Ser3504Thr) c.9109-543T>A (n.9109-543T>A) | |
1 | g.152304377C>A | CA342069331 | FLG | c.10509G>T (p.Trp3503Cys) c.9109-544G>T (n.9109-544G>T) | gnomAD v4 |
1 | g.152304377C>G | CA342069334 | FLG | c.10509G>C (p.Trp3503Cys) c.9109-544G>C (n.9109-544G>C) | |
1 | g.152304377C>T | CA342069342 | FLG | c.10509G>A (p.Trp3503Ter) c.9109-544G>A (n.9109-544G>A) | |
1 | g.152304378C>A | CA342069345 | FLG | c.10508G>T (p.Trp3503Leu) c.9109-545G>T (n.9109-545G>T) | gnomAD v4 |
1 | g.152304378C>G | CA342069346 | FLG | c.10508G>C (p.Trp3503Ser) c.9109-545G>C (n.9109-545G>C) | |
1 | g.152304378C>T | CA342069352 | FLG | c.10508G>A (p.Trp3503Ter) c.9109-545G>A (n.9109-545G>A) | |
1 | g.152304379A= | CA1140413033 | FLG | c.10507T= (p.Trp3503=) c.9109-546T= (n.9109-546T=) | |
1 | g.152304379A>C | CA1103319 | FLG | c.10507T>G (p.Trp3503Gly) c.9109-546T>G (n.9109-546T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304379A>G | CA342069359 | FLG | c.10507T>C (p.Trp3503Arg) c.9109-546T>C (n.9109-546T>C) | dbSNP gnomAD v4 |
1 | g.152304379A>T | CA342069362 | FLG | c.10507T>A (p.Trp3503Arg) c.9109-546T>A (n.9109-546T>A) | |
1 | g.152304380T>A | CA420926634 | FLG | c.10506A>T (p.Ser3502=) c.9109-547A>T (n.9109-547A>T) | |
1 | g.152304380T>C | CA420926635 | FLG | c.10506A>G (p.Ser3502=) c.9109-547A>G (n.9109-547A>G) | |
1 | g.152304380T>G | CA420926636 | FLG | c.10506A>C (p.Ser3502=) c.9109-547A>C (n.9109-547A>C) | |
1 | g.152304381G>A | CA342069363 | FLG | c.10505C>T (p.Ser3502Leu) c.9109-548C>T (n.9109-548C>T) | |
1 | g.152304381G>C | CA342069364 | FLG | c.10505C>G (p.Ser3502Ter) c.9109-548C>G (n.9109-548C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304381G= | CA2479947415 | FLG | c.10505C= (p.Ser3502=) c.9109-548C= (n.9109-548C=) | |
1 | g.152304381G>T | CA342069365 | FLG | c.10505C>A (p.Ser3502Ter) c.9109-548C>A (n.9109-548C>A) | |
1 | g.152304382A= | CA1142340915 | FLG | c.10504T= (p.Ser3502=) c.9109-549T= (n.9109-549T=) | |
1 | g.152304382A>C | CA342069383 | FLG | c.10504T>G (p.Ser3502Ala) c.9109-549T>G (n.9109-549T>G) | |
1 | g.152304382A>G | CA1103320 | FLG | c.10504T>C (p.Ser3502Pro) c.9109-549T>C (n.9109-549T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304382A>T | CA342069366 | FLG | c.10504T>A (p.Ser3502Thr) c.9109-549T>A (n.9109-549T>A) | |
1 | g.152304383G>A | CA1103321 | FLG | c.10503C>T (p.His3501=) c.9109-550C>T (n.9109-550C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304383G>C | CA342069394 | FLG | c.10503C>G (p.His3501Gln) c.9109-550C>G (n.9109-550C>G) | gnomAD v4 |
1 | g.152304383G= | CA1147491512 | FLG | c.10503C= (p.His3501=) c.9109-550C= (n.9109-550C=) | |
1 | g.152304383G>T | CA342069393 | FLG | c.10503C>A (p.His3501Gln) c.9109-550C>A (n.9109-550C>A) | |
1 | g.152304384T>A | CA342069405 | FLG | c.10502A>T (p.His3501Leu) c.9109-551A>T (n.9109-551A>T) | |
1 | g.152304384T>C | CA342069410 | FLG | c.10502A>G (p.His3501Arg) c.9109-551A>G (n.9109-551A>G) | |
1 | g.152304384T>G | CA342069412 | FLG | c.10502A>C (p.His3501Pro) c.9109-551A>C (n.9109-551A>C) | |
1 | g.152304385G>A | CA342069418 | FLG | c.10501C>T (p.His3501Tyr) c.9109-552C>T (n.9109-552C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304385G>C | CA342069425 | FLG | c.10501C>G (p.His3501Asp) c.9109-552C>G (n.9109-552C>G) | |
1 | g.152304385G= | CA2479947416 | FLG | c.10501C= (p.His3501=) c.9109-552C= (n.9109-552C=) | |
1 | g.152304385G>T | CA1103322 | FLG | c.10501C>A (p.His3501Asn) c.9109-552C>A (n.9109-552C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304386C>A | CA342069429 | FLG | c.10500G>T (p.Arg3500Ser) c.9109-553G>T (n.9109-553G>T) | gnomAD v4 |
1 | g.152304386C= | CA2479947417 | FLG | c.10500G= (p.Arg3500=) c.9109-553G= (n.9109-553G=) | |
1 | g.152304386C>G | CA342069430 | FLG | c.10500G>C (p.Arg3500Ser) c.9109-553G>C (n.9109-553G>C) | |
1 | g.152304386C>T | CA1103323 | FLG | c.10500G>A (p.Arg3500=) c.9109-553G>A (n.9109-553G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304387C>A | CA342069433 | FLG | c.10499G>T (p.Arg3500Met) c.9109-554G>T (n.9109-554G>T) | |
1 | g.152304387C>G | CA342069438 | FLG | c.10499G>C (p.Arg3500Thr) c.9109-554G>C (n.9109-554G>C) | |
1 | g.152304387C>T | CA342069442 | FLG | c.10499G>A (p.Arg3500Lys) c.9109-554G>A (n.9109-554G>A) | gnomAD v4 |
1 | g.152304388T>A | CA342069444 | FLG | c.10498A>T (p.Arg3500Trp) c.9109-555A>T (n.9109-555A>T) | |
1 | g.152304388T>C | CA342069446 | FLG | c.10498A>G (p.Arg3500Gly) c.9109-555A>G (n.9109-555A>G) | |
1 | g.152304388T>G | CA420926363 | FLG | c.10498A>C (p.Arg3500=) c.9109-555A>C (n.9109-555A>C) | |
1 | g.152304388dup | CA2647993490 | FLG | c.10498dup (p.Arg3500LysfsTer9) c.9109-555dup (n.9109-555dup) | gnomAD v4 |
1 | g.152304389G>A | CA30600533 | FLG | c.10497C>T (p.Ser3499=) c.9109-556C>T (n.9109-556C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304389G>C | CA420926364 | FLG | c.10497C>G (p.Ser3499=) c.9109-556C>G (n.9109-556C>G) | |
1 | g.152304389G= | CA1140427001 | FLG | c.10497C= (p.Ser3499=) c.9109-556C= (n.9109-556C=) | |
1 | g.152304389G>T | CA420926365 | FLG | c.10497C>A (p.Ser3499=) c.9109-556C>A (n.9109-556C>A) | |
1 | g.152304389_152304390insCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCA | CA2647993491 | FLG | c.10496_10497insTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTG (p.Arg3500GlyfsTer?) c.9109-557_9109-556insTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTG (n.9109-557_9109-556insTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGTG) | gnomAD v4 |
1 | g.152304390G>A | CA342069454 | FLG | c.10496C>T (p.Ser3499Phe) c.9109-557C>T (n.9109-557C>T) | |
1 | g.152304390G>C | CA342069460 | FLG | c.10496C>G (p.Ser3499Cys) c.9109-557C>G (n.9109-557C>G) | COSMIC |
1 | g.152304390G= | CA2479947418 | FLG | c.10496C= (p.Ser3499=) c.9109-557C= (n.9109-557C=) | |
1 | g.152304390G>T | CA342069462 | FLG | c.10496C>A (p.Ser3499Tyr) c.9109-557C>A (n.9109-557C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304391A= | CA2479947419 | FLG | c.10495T= (p.Ser3499=) c.9109-558T= (n.9109-558T=) | |
1 | g.152304391A>C | CA342069464 | FLG | c.10495T>G (p.Ser3499Ala) c.9109-558T>G (n.9109-558T>G) | dbSNP |
1 | g.152304391A>G | CA342069465 | FLG | c.10495T>C (p.Ser3499Pro) c.9109-558T>C (n.9109-558T>C) | |
1 | g.152304391A>T | CA342069468 | FLG | c.10495T>A (p.Ser3499Thr) c.9109-558T>A (n.9109-558T>A) | gnomAD v4 |
1 | g.152304391_152304508del | CA2647993492 | FLG | c.10378_10495del (p.Ser3460ProfsTer?) c.9109-675_9109-558del (n.9109-675_9109-558del) | gnomAD v4 |
1 | g.152304392G>A | CA420926370 | FLG | c.10494C>T (p.Gly3498=) c.9109-559C>T (n.9109-559C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304392G>C | CA420926372 | FLG | c.10494C>G (p.Gly3498=) c.9109-559C>G (n.9109-559C>G) | |
1 | g.152304392G= | CA2479947420 | FLG | c.10494C= (p.Gly3498=) c.9109-559C= (n.9109-559C=) | |
1 | g.152304392G>T | CA420926369 | FLG | c.10494C>A (p.Gly3498=) c.9109-559C>A (n.9109-559C>A) | |
1 | g.152304393C>A | CA342069472 | FLG | c.10493G>T (p.Gly3498Val) c.9109-560G>T (n.9109-560G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304393C= | CA2479947421 | FLG | c.10493G= (p.Gly3498=) c.9109-560G= (n.9109-560G=) | |
1 | g.152304393C>G | CA342069473 | FLG | c.10493G>C (p.Gly3498Ala) c.9109-560G>C (n.9109-560G>C) | |
1 | g.152304393C>T | CA342069475 | FLG | c.10493G>A (p.Gly3498Asp) c.9109-560G>A (n.9109-560G>A) | gnomAD v4 |
1 | g.152304394C>A | CA1103325 | FLG | c.10492G>T (p.Gly3498Cys) c.9109-561G>T (n.9109-561G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304394C= | CA1142131190 | FLG | c.10492G= (p.Gly3498=) c.9109-561G= (n.9109-561G=) | |
1 | g.152304394C>G | CA342069486 | FLG | c.10492G>C (p.Gly3498Arg) c.9109-561G>C (n.9109-561G>C) | |
1 | g.152304394C>T | CA1103324 | FLG | c.10492G>A (p.Gly3498Ser) c.9109-561G>A (n.9109-561G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304395A= | CA1139987786 | FLG | c.10491T= (p.Asp3497=) c.9109-562T= (n.9109-562T=) | |
1 | g.152304395A>C | CA342069487 | FLG | c.10491T>G (p.Asp3497Glu) c.9109-562T>G (n.9109-562T>G) | |
1 | g.152304395A>G | CA1103326 | FLG | c.10491T>C (p.Asp3497=) c.9109-562T>C (n.9109-562T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304395A>T | CA342069489 | FLG | c.10491T>A (p.Asp3497Glu) c.9109-562T>A (n.9109-562T>A) | |
1 | g.152304396T>A | CA342069490 | FLG | c.10490A>T (p.Asp3497Val) c.9109-563A>T (n.9109-563A>T) | |
1 | g.152304396T>C | CA342069491 | FLG | c.10490A>G (p.Asp3497Gly) c.9109-563A>G (n.9109-563A>G) | |
1 | g.152304396T>G | CA342069492 | FLG | c.10490A>C (p.Asp3497Ala) c.9109-563A>C (n.9109-563A>C) | |
1 | g.152304397C>A | CA342069493 | FLG | c.10489G>T (p.Asp3497Tyr) c.9109-564G>T (n.9109-564G>T) | gnomAD v4 |
1 | g.152304397C= | CA1143451099 | FLG | c.10489G= (p.Asp3497=) c.9109-564G= (n.9109-564G=) | |
1 | g.152304397C>G | CA1103327 | FLG | c.10489G>C (p.Asp3497His) c.9109-564G>C (n.9109-564G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304397C>T | CA342069495 | FLG | c.10489G>A (p.Asp3497Asn) c.9109-564G>A (n.9109-564G>A) | dbSNP gnomAD v4 |
1 | g.152304398T>A | CA420926385 | FLG | c.10488A>T (p.Gly3496=) c.9109-565A>T (n.9109-565A>T) | |
1 | g.152304398T>C | CA420926387 | FLG | c.10488A>G (p.Gly3496=) c.9109-565A>G (n.9109-565A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304398T>G | CA420926386 | FLG | c.10488A>C (p.Gly3496=) c.9109-565A>C (n.9109-565A>C) | |
1 | g.152304398T= | CA2479947422 | FLG | c.10488A= (p.Gly3496=) c.9109-565A= (n.9109-565A=) | |
1 | g.152304399C>A | CA342069496 | FLG | c.10487G>T (p.Gly3496Val) c.9109-566G>T (n.9109-566G>T) | |
1 | g.152304399C= | CA1141535090 | FLG | c.10487G= (p.Gly3496=) c.9109-566G= (n.9109-566G=) | |
1 | g.152304399C>G | CA342069498 | FLG | c.10487G>C (p.Gly3496Ala) c.9109-566G>C (n.9109-566G>C) | |
1 | g.152304399C>T | CA1103328 | FLG | c.10487G>A (p.Gly3496Glu) c.9109-566G>A (n.9109-566G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304400C>A | CA342069513 | FLG | c.10486G>T (p.Gly3496Ter) c.9109-567G>T (n.9109-567G>T) | |
1 | g.152304400C>G | CA342069514 | FLG | c.10486G>C (p.Gly3496Arg) c.9109-567G>C (n.9109-567G>C) | |
1 | g.152304400C>T | CA342069508 | FLG | c.10486G>A (p.Gly3496Arg) c.9109-567G>A (n.9109-567G>A) | gnomAD v4 |
1 | g.152304401T>A | CA420926390 | FLG | c.10485A>T (p.Ser3495=) c.9109-568A>T (n.9109-568A>T) | |
1 | g.152304401T>C | CA420926391 | FLG | c.10485A>G (p.Ser3495=) c.9109-568A>G (n.9109-568A>G) | |
1 | g.152304401T>G | CA1103329 | FLG | c.10485A>C (p.Ser3495=) c.9109-568A>C (n.9109-568A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304401T= | CA1143441657 | FLG | c.10485A= (p.Ser3495=) c.9109-568A= (n.9109-568A=) | |
1 | g.152304402G>A | CA342069515 | FLG | c.10484C>T (p.Ser3495Leu) c.9109-569C>T (n.9109-569C>T) | COSMIC |
1 | g.152304402G>C | CA342069516 | FLG | c.10484C>G (p.Ser3495Ter) c.9109-569C>G (n.9109-569C>G) | |
1 | g.152304402G>T | CA342069519 | FLG | c.10484C>A (p.Ser3495Ter) c.9109-569C>A (n.9109-569C>A) | |
1 | g.152304403A= | CA2479947423 | FLG | c.10483T= (p.Ser3495=) c.9109-570T= (n.9109-570T=) | |
1 | g.152304403A>C | CA342069529 | FLG | c.10483T>G (p.Ser3495Ala) c.9109-570T>G (n.9109-570T>G) | |
1 | g.152304403A>G | CA342069525 | FLG | c.10483T>C (p.Ser3495Pro) c.9109-570T>C (n.9109-570T>C) | |
1 | g.152304403A>T | CA1103330 | FLG | c.10483T>A (p.Ser3495Thr) c.9109-570T>A (n.9109-570T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304404T>A | CA342069543 | FLG | c.10482A>T (p.Gln3494His) c.9109-571A>T (n.9109-571A>T) | |
1 | g.152304404T>C | CA1103331 | FLG | c.10482A>G (p.Gln3494=) c.9109-571A>G (n.9109-571A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304404T>G | CA342069555 | FLG | c.10482A>C (p.Gln3494His) c.9109-571A>C (n.9109-571A>C) | |
1 | g.152304404T= | CA1141733080 | FLG | c.10482A= (p.Gln3494=) c.9109-571A= (n.9109-571A=) | |
1 | g.152304405T>A | CA342069560 | FLG | c.10481A>T (p.Gln3494Leu) c.9109-572A>T (n.9109-572A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304405T>C | CA342069562 | FLG | c.10481A>G (p.Gln3494Arg) c.9109-572A>G (n.9109-572A>G) | |
1 | g.152304405T>G | CA342069564 | FLG | c.10481A>C (p.Gln3494Pro) c.9109-572A>C (n.9109-572A>C) | |
1 | g.152304405T= | CA2479947424 | FLG | c.10481A= (p.Gln3494=) c.9109-572A= (n.9109-572A=) | |
1 | g.152304406G>A | CA342069567 | FLG | c.10480C>T (p.Gln3494Ter) c.9109-573C>T (n.9109-573C>T) | gnomAD v4 COSMIC |
1 | g.152304406G>C | CA342069574 | FLG | c.10480C>G (p.Gln3494Glu) c.9109-573C>G (n.9109-573C>G) | |
1 | g.152304406G= | CA2479947425 | FLG | c.10480C= (p.Gln3494=) c.9109-573C= (n.9109-573C=) | |
1 | g.152304406G>T | CA342069571 | FLG | c.10480C>A (p.Gln3494Lys) c.9109-573C>A (n.9109-573C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304407T>A | CA342069578 | FLG | c.10479A>T (p.Glu3493Asp) c.9109-574A>T (n.9109-574A>T) | |
1 | g.152304407T>C | CA420926405 | FLG | c.10479A>G (p.Glu3493=) c.9109-574A>G (n.9109-574A>G) | dbSNP gnomAD v4 |
1 | g.152304407T>G | CA342069587 | FLG | c.10479A>C (p.Glu3493Asp) c.9109-574A>C (n.9109-574A>C) | |
1 | g.152304407T= | CA2479947426 | FLG | c.10479A= (p.Glu3493=) c.9109-574A= (n.9109-574A=) | |
1 | g.152304408T>A | CA342069588 | FLG | c.10478A>T (p.Glu3493Val) c.9109-575A>T (n.9109-575A>T) | dbSNP |
1 | g.152304408T>C | CA342069590 | FLG | c.10478A>G (p.Glu3493Gly) c.9109-575A>G (n.9109-575A>G) | |
1 | g.152304408T>G | CA342069589 | FLG | c.10478A>C (p.Glu3493Ala) c.9109-575A>C (n.9109-575A>C) | |
1 | g.152304408T= | CA2479947427 | FLG | c.10478A= (p.Glu3493=) c.9109-575A= (n.9109-575A=) | |
1 | g.152304409C>A | CA342069592 | FLG | c.10477G>T (p.Glu3493Ter) c.9109-576G>T (n.9109-576G>T) | |
1 | g.152304409C= | CA1142026727 | FLG | c.10477G= (p.Glu3493=) c.9109-576G= (n.9109-576G=) | |
1 | g.152304409C>G | CA342069598 | FLG | c.10477G>C (p.Glu3493Gln) c.9109-576G>C (n.9109-576G>C) | |
1 | g.152304409C>T | CA1103332 | FLG | c.10477G>A (p.Glu3493Lys) c.9109-576G>A (n.9109-576G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304409_152304410insCTT | CA526662116 | FLG | c.10476_10477insAAG (p.Asp3492_Glu3493insLys) c.9109-577_9109-576insAAG (n.9109-577_9109-576insAAG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304410G>A | CA1103333 | FLG | c.10476C>T (p.Asp3492=) c.9109-577C>T (n.9109-577C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304410G>C | CA1103334 | FLG | c.10476C>G (p.Asp3492Glu) c.9109-577C>G (n.9109-577C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304410G= | CA1142020920 | FLG | c.10476C= (p.Asp3492=) c.9109-577C= (n.9109-577C=) | |
1 | g.152304410G>T | CA342069599 | FLG | c.10476C>A (p.Asp3492Glu) c.9109-577C>A (n.9109-577C>A) | |
1 | g.152304411T>A | CA342069600 | FLG | c.10475A>T (p.Asp3492Val) c.9109-578A>T (n.9109-578A>T) | gnomAD v4 |
1 | g.152304411T>C | CA342069602 | FLG | c.10475A>G (p.Asp3492Gly) c.9109-578A>G (n.9109-578A>G) | COSMIC |
1 | g.152304411T>G | CA342069604 | FLG | c.10475A>C (p.Asp3492Ala) c.9109-578A>C (n.9109-578A>C) | |
1 | g.152304412C>A | CA342069612 | FLG | c.10474G>T (p.Asp3492Tyr) c.9109-579G>T (n.9109-579G>T) | dbSNP COSMIC |
1 | g.152304412C= | CA2479947428 | FLG | c.10474G= (p.Asp3492=) c.9109-579G= (n.9109-579G=) | |
1 | g.152304412C>G | CA342069616 | FLG | c.10474G>C (p.Asp3492His) c.9109-579G>C (n.9109-579G>C) | |
1 | g.152304412C>T | CA1103335 | FLG | c.10474G>A (p.Asp3492Asn) c.9109-579G>A (n.9109-579G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304413A= | CA1139987787 | FLG | c.10473T= (p.Asn3491=) c.9109-580T= (n.9109-580T=) | |
1 | g.152304413A>C | CA1103337 | FLG | c.10473T>G (p.Asn3491Lys) c.9109-580T>G (n.9109-580T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304413A>G | CA1103336 | FLG | c.10473T>C (p.Asn3491=) c.9109-580T>C (n.9109-580T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304413A>T | CA342069632 | FLG | c.10473T>A (p.Asn3491Lys) c.9109-580T>A (n.9109-580T>A) | |
1 | g.152304414T>A | CA342069636 | FLG | c.10472A>T (p.Asn3491Ile) c.9109-581A>T (n.9109-581A>T) | |
1 | g.152304414T>C | CA342069642 | FLG | c.10472A>G (p.Asn3491Ser) c.9109-581A>G (n.9109-581A>G) | |
1 | g.152304414T>G | CA342069640 | FLG | c.10472A>C (p.Asn3491Thr) c.9109-581A>C (n.9109-581A>C) | |
1 | g.152304414_152304417delinsTTAC | CA2479947429 | FLG | c.10469_10472delinsGTAA (p.Arg3490=) c.9109-584_9109-581delinsGTAA (n.9109-584_9109-581delinsGTAA) | |
1 | g.152304415T>A | CA342069646 | FLG | c.10471A>T (p.Asn3491Tyr) c.9109-582A>T (n.9109-582A>T) | |
1 | g.152304415T>C | CA342069651 | FLG | c.10471A>G (p.Asn3491Asp) c.9109-582A>G (n.9109-582A>G) | dbSNP |
1 | g.152304415T>G | CA342069655 | FLG | c.10471A>C (p.Asn3491His) c.9109-582A>C (n.9109-582A>C) | |
1 | g.152304415T= | CA2479947430 | FLG | c.10471A= (p.Asn3491=) c.9109-582A= (n.9109-582A=) | |
1 | g.152304415_152304417del | CA526662117 | FLG | c.10469_10471del (p.Arg3490_Asn3491delinsHis) c.9109-584_9109-582del (n.9109-584_9109-582del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304416A= | CA1148265405 | FLG | c.10470T= (p.Arg3490=) c.9109-583T= (n.9109-583T=) | |
1 | g.152304416A>C | CA420926425 | FLG | c.10470T>G (p.Arg3490=) c.9109-583T>G (n.9109-583T>G) | |
1 | g.152304416A>G | CA1103338 | FLG | c.10470T>C (p.Arg3490=) c.9109-583T>C (n.9109-583T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304416A>T | CA420926422 | FLG | c.10470T>A (p.Arg3490=) c.9109-583T>A (n.9109-583T>A) | |
1 | g.152304417C>A | CA342069664 | FLG | c.10469G>T (p.Arg3490Leu) c.9109-584G>T (n.9109-584G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304417C= | CA1143936861 | FLG | c.10469G= (p.Arg3490=) c.9109-584G= (n.9109-584G=) | |
1 | g.152304417C>G | CA1103340 | FLG | c.10469G>C (p.Arg3490Pro) c.9109-584G>C (n.9109-584G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304417C>T | CA1103339 | FLG | c.10469G>A (p.Arg3490His) c.9109-584G>A (n.9109-584G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304418G>A | CA1103341 | FLG | c.10468C>T (p.Arg3490Cys) c.9109-585C>T (n.9109-585C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304418G>C | CA342069677 | FLG | c.10468C>G (p.Arg3490Gly) c.9109-585C>G (n.9109-585C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304418G= | CA1141369372 | FLG | c.10468C= (p.Arg3490=) c.9109-585C= (n.9109-585C=) | |
1 | g.152304418G>T | CA342069678 | FLG | c.10468C>A (p.Arg3490Ser) c.9109-585C>A (n.9109-585C>A) | COSMIC |
1 | g.152304419A= | CA2479947431 | FLG | c.10467T= (p.Thr3489=) c.9109-586T= (n.9109-586T=) | |
1 | g.152304419A>C | CA420926429 | FLG | c.10467T>G (p.Thr3489=) c.9109-586T>G (n.9109-586T>G) | |
1 | g.152304419A>G | CA420926428 | FLG | c.10467T>C (p.Thr3489=) c.9109-586T>C (n.9109-586T>C) | dbSNP |
1 | g.152304419A>T | CA1103342 | FLG | c.10467T>A (p.Thr3489=) c.9109-586T>A (n.9109-586T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304420G>A | CA1103343 | FLG | c.10466C>T (p.Thr3489Ile) c.9109-587C>T (n.9109-587C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304420G>C | CA342069682 | FLG | c.10466C>G (p.Thr3489Ser) c.9109-587C>G (n.9109-587C>G) | |
1 | g.152304420G= | CA2479947432 | FLG | c.10466C= (p.Thr3489=) c.9109-587C= (n.9109-587C=) | |
1 | g.152304420G>T | CA342069684 | FLG | c.10466C>A (p.Thr3489Asn) c.9109-587C>A (n.9109-587C>A) | |
1 | g.152304421T>A | CA342069691 | FLG | c.10465A>T (p.Thr3489Ser) c.9109-588A>T (n.9109-588A>T) | |
1 | g.152304421T>C | CA342069701 | FLG | c.10465A>G (p.Thr3489Ala) c.9109-588A>G (n.9109-588A>G) | |
1 | g.152304421T>G | CA342069705 | FLG | c.10465A>C (p.Thr3489Pro) c.9109-588A>C (n.9109-588A>C) | |
1 | g.152304421T= | CA2479947433 | FLG | c.10465A= (p.Thr3489=) c.9109-588A= (n.9109-588A=) | |
1 | g.152304423del | CA2647993495 | FLG | c.10465del (p.Thr3489LeufsTer?) c.9109-588del (n.9109-588del) | gnomAD v4 |
1 | g.152304421_152304422insGAAC | CA1103344 | FLG | c.10464_10465insGTTC (p.Thr3489ValfsTer4) c.9109-589_9109-588insGTTC (n.9109-589_9109-588insGTTC) | dbSNP ExAC |
1 | g.152304422T>A | CA342069711 | FLG | c.10464A>T (p.Gln3488His) c.9109-589A>T (n.9109-589A>T) | |
1 | g.152304422T>C | CA420926436 | FLG | c.10464A>G (p.Gln3488=) c.9109-589A>G (n.9109-589A>G) | gnomAD v4 |
1 | g.152304422T>G | CA342069716 | FLG | c.10464A>C (p.Gln3488His) c.9109-589A>C (n.9109-589A>C) | |
1 | g.152304423T>A | CA342069721 | FLG | c.10463A>T (p.Gln3488Leu) c.9109-590A>T (n.9109-590A>T) | |
1 | g.152304423T>C | CA342069724 | FLG | c.10463A>G (p.Gln3488Arg) c.9109-590A>G (n.9109-590A>G) | |
1 | g.152304423T>G | CA342069726 | FLG | c.10463A>C (p.Gln3488Pro) c.9109-590A>C (n.9109-590A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304423T= | CA2479947435 | FLG | c.10463A= (p.Gln3488=) c.9109-590A= (n.9109-590A=) | |
1 | g.152304423_152304424delinsTG | CA2479947434 | FLG | c.10462_10463delinsCA (p.Gln3488=) c.9109-591_9109-590delinsCA (n.9109-591_9109-590delinsCA) | |
1 | g.152304424del | CA526662118 | FLG | c.10462del (p.Gln3488LysfsTer?) c.9109-591del (n.9109-591del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304424G>A | CA342069733 | FLG | c.10462C>T (p.Gln3488Ter) c.9109-591C>T (n.9109-591C>T) | |
1 | g.152304424G>C | CA342069731 | FLG | c.10462C>G (p.Gln3488Glu) c.9109-591C>G (n.9109-591C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304424G= | CA1148481828 | FLG | c.10462C= (p.Gln3488=) c.9109-591C= (n.9109-591C=) | |
1 | g.152304424G>T | CA1103345 | FLG | c.10462C>A (p.Gln3488Lys) c.9109-591C>A (n.9109-591C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304425T>A | CA342069735 | FLG | c.10461A>T (p.Arg3487Ser) c.9109-592A>T (n.9109-592A>T) | |
1 | g.152304425T>C | CA420926442 | FLG | c.10461A>G (p.Arg3487=) c.9109-592A>G (n.9109-592A>G) | dbSNP gnomAD v2 |
1 | g.152304425T>G | CA342069738 | FLG | c.10461A>C (p.Arg3487Ser) c.9109-592A>C (n.9109-592A>C) | |
1 | g.152304425T= | CA2479947436 | FLG | c.10461A= (p.Arg3487=) c.9109-592A= (n.9109-592A=) | |
1 | g.152304426C>A | CA342069743 | FLG | c.10460G>T (p.Arg3487Ile) c.9109-593G>T (n.9109-593G>T) | |
1 | g.152304426C>G | CA342069746 | FLG | c.10460G>C (p.Arg3487Thr) c.9109-593G>C (n.9109-593G>C) | |
1 | g.152304426C>T | CA342069749 | FLG | c.10460G>A (p.Arg3487Lys) c.9109-593G>A (n.9109-593G>A) | gnomAD v4 |
1 | g.152304427T>A | CA342069752 | FLG | c.10459A>T (p.Arg3487Ter) c.9109-594A>T (n.9109-594A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.152304427T>C | CA342069753 | FLG | c.10459A>G (p.Arg3487Gly) c.9109-594A>G (n.9109-594A>G) | |
1 | g.152304427T>G | CA420926448 | FLG | c.10459A>C (p.Arg3487=) c.9109-594A>C (n.9109-594A>C) | |
1 | g.152304427T= | CA2479947437 | FLG | c.10459A= (p.Arg3487=) c.9109-594A= (n.9109-594A=) | |
1 | g.152304428G>A | CA420926449 | FLG | c.10458C>T (p.Ser3486=) c.9109-595C>T (n.9109-595C>T) | gnomAD v4 |
1 | g.152304428G>C | CA342069754 | FLG | c.10458C>G (p.Ser3486Arg) c.9109-595C>G (n.9109-595C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304428G= | CA2479947438 | FLG | c.10458C= (p.Ser3486=) c.9109-595C= (n.9109-595C=) | |
1 | g.152304428G>T | CA342069755 | FLG | c.10458C>A (p.Ser3486Arg) c.9109-595C>A (n.9109-595C>A) | |
1 | g.152304429C>A | CA342069757 | FLG | c.10457G>T (p.Ser3486Ile) c.9109-596G>T (n.9109-596G>T) | |
1 | g.152304429C>G | CA342069760 | FLG | c.10457G>C (p.Ser3486Thr) c.9109-596G>C (n.9109-596G>C) | |
1 | g.152304429C>T | CA342069766 | FLG | c.10457G>A (p.Ser3486Asn) c.9109-596G>A (n.9109-596G>A) | |
1 | g.152304430T>A | CA342069771 | FLG | c.10456A>T (p.Ser3486Cys) c.9109-597A>T (n.9109-597A>T) | |
1 | g.152304430T>C | CA342069772 | FLG | c.10456A>G (p.Ser3486Gly) c.9109-597A>G (n.9109-597A>G) | |
1 | g.152304430T>G | CA342069770 | FLG | c.10456A>C (p.Ser3486Arg) c.9109-597A>C (n.9109-597A>C) | |
1 | g.152304431G>A | CA420926456 | FLG | c.10455C>T (p.Ala3485=) c.9109-598C>T (n.9109-598C>T) | |
1 | g.152304431G>C | CA420926457 | FLG | c.10455C>G (p.Ala3485=) c.9109-598C>G (n.9109-598C>G) | |
1 | g.152304431G= | CA1147975596 | FLG | c.10455C= (p.Ala3485=) c.9109-598C= (n.9109-598C=) | |
1 | g.152304431G>T | CA1103346 | FLG | c.10455C>A (p.Ala3485=) c.9109-598C>A (n.9109-598C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304432G>A | CA1103347 | FLG | c.10454C>T (p.Ala3485Val) c.9109-599C>T (n.9109-599C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304432G>C | CA342069776 | FLG | c.10454C>G (p.Ala3485Gly) c.9109-599C>G (n.9109-599C>G) | |
1 | g.152304432G= | CA1143391554 | FLG | c.10454C= (p.Ala3485=) c.9109-599C= (n.9109-599C=) | |
1 | g.152304432G>T | CA342069778 | FLG | c.10454C>A (p.Ala3485Asp) c.9109-599C>A (n.9109-599C>A) | gnomAD v4 |