Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304236T>A | CA342068204 | FLG | c.10650A>T (p.Glu3550Asp) c.9109-403A>T (n.9109-403A>T) | dbSNP gnomAD v4 |
1 | g.152304236T>C | CA1103244 | FLG | c.10650A>G (p.Glu3550=) c.9109-403A>G (n.9109-403A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304236T>G | CA342068208 | FLG | c.10650A>C (p.Glu3550Asp) c.9109-403A>C (n.9109-403A>C) | gnomAD v4 |
1 | g.152304236T= | CA1146071497 | FLG | c.10650A= (p.Glu3550=) c.9109-403A= (n.9109-403A=) | |
1 | g.152304237T>A | CA1103245 | FLG | c.10649A>T (p.Glu3550Val) c.9109-404A>T (n.9109-404A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304237T>C | CA342068213 | FLG | c.10649A>G (p.Glu3550Gly) c.9109-404A>G (n.9109-404A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304237T>G | CA342068216 | FLG | c.10649A>C (p.Glu3550Ala) c.9109-404A>C (n.9109-404A>C) | |
1 | g.152304237T= | CA1149154457 | FLG | c.10649A= (p.Glu3550=) c.9109-404A= (n.9109-404A=) | |
1 | g.152304238del | CA2647993468 | FLG | c.10648del (p.Glu3550LysfsTer?) c.9109-405del (n.9109-405del) | gnomAD v4 |
1 | g.152304238C>A | CA342068222 | FLG | c.10648G>T (p.Glu3550Ter) c.9109-405G>T (n.9109-405G>T) | |
1 | g.152304238C>G | CA342068224 | FLG | c.10648G>C (p.Glu3550Gln) c.9109-405G>C (n.9109-405G>C) | |
1 | g.152304238C>T | CA342068227 | FLG | c.10648G>A (p.Glu3550Lys) c.9109-405G>A (n.9109-405G>A) | |
1 | g.152304239T>A | CA420926255 | FLG | c.10647A>T (p.Ser3549=) c.9109-406A>T (n.9109-406A>T) | |
1 | g.152304239T>C | CA420926256 | FLG | c.10647A>G (p.Ser3549=) c.9109-406A>G (n.9109-406A>G) | |
1 | g.152304239T>G | CA420926257 | FLG | c.10647A>C (p.Ser3549=) c.9109-406A>C (n.9109-406A>C) | |
1 | g.152304240G>A | CA342068230 | FLG | c.10646C>T (p.Ser3549Leu) c.9109-407C>T (n.9109-407C>T) | |
1 | g.152304240G>C | CA342068233 | FLG | c.10646C>G (p.Ser3549Ter) c.9109-407C>G (n.9109-407C>G) | |
1 | g.152304240G>T | CA342068236 | FLG | c.10646C>A (p.Ser3549Ter) c.9109-407C>A (n.9109-407C>A) | |
1 | g.152304241A>C | CA342068239 | FLG | c.10645T>G (p.Ser3549Ala) c.9109-408T>G (n.9109-408T>G) | |
1 | g.152304241A>G | CA342068242 | FLG | c.10645T>C (p.Ser3549Pro) c.9109-408T>C (n.9109-408T>C) | gnomAD v3 gnomAD v4 |
1 | g.152304241A>T | CA342068245 | FLG | c.10645T>A (p.Ser3549Thr) c.9109-408T>A (n.9109-408T>A) | |
1 | g.152304242G>A | CA420926266 | FLG | c.10644C>T (p.His3548=) c.9109-409C>T (n.9109-409C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304242G>C | CA342068249 | FLG | c.10644C>G (p.His3548Gln) c.9109-409C>G (n.9109-409C>G) | |
1 | g.152304242G= | CA2479947347 | FLG | c.10644C= (p.His3548=) c.9109-409C= (n.9109-409C=) | |
1 | g.152304242G>T | CA342068250 | FLG | c.10644C>A (p.His3548Gln) c.9109-409C>A (n.9109-409C>A) | |
1 | g.152304243T>A | CA342068259 | FLG | c.10643A>T (p.His3548Leu) c.9109-410A>T (n.9109-410A>T) | |
1 | g.152304243T>C | CA342068257 | FLG | c.10643A>G (p.His3548Arg) c.9109-410A>G (n.9109-410A>G) | |
1 | g.152304243T>G | CA342068255 | FLG | c.10643A>C (p.His3548Pro) c.9109-410A>C (n.9109-410A>C) | gnomAD v4 |
1 | g.152304244G>A | CA342068263 | FLG | c.10642C>T (p.His3548Tyr) c.9109-411C>T (n.9109-411C>T) | |
1 | g.152304244G>C | CA342068266 | FLG | c.10642C>G (p.His3548Asp) c.9109-411C>G (n.9109-411C>G) | |
1 | g.152304244G>T | CA342068269 | FLG | c.10642C>A (p.His3548Asn) c.9109-411C>A (n.9109-411C>A) | gnomAD v4 |
1 | g.152304245T>A | CA420926275 | FLG | c.10641A>T (p.Gly3547=) c.9109-412A>T (n.9109-412A>T) | gnomAD v4 |
1 | g.152304245T>C | CA420926277 | FLG | c.10641A>G (p.Gly3547=) c.9109-412A>G (n.9109-412A>G) | gnomAD v4 |
1 | g.152304245T>G | CA420926278 | FLG | c.10641A>C (p.Gly3547=) c.9109-412A>C (n.9109-412A>C) | |
1 | g.152304246C>A | CA30600114 | FLG | c.10640G>T (p.Gly3547Val) c.9109-413G>T (n.9109-413G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304246C= | CA1142094645 | FLG | c.10640G= (p.Gly3547=) c.9109-413G= (n.9109-413G=) | |
1 | g.152304246C>G | CA342068274 | FLG | c.10640G>C (p.Gly3547Ala) c.9109-413G>C (n.9109-413G>C) | |
1 | g.152304246C>T | CA1103246 | FLG | c.10640G>A (p.Gly3547Glu) c.9109-413G>A (n.9109-413G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304247C>A | CA342068280 | FLG | c.10639G>T (p.Gly3547Ter) c.9109-414G>T (n.9109-414G>T) | |
1 | g.152304247C= | CA2479947349 | FLG | c.10639G= (p.Gly3547=) c.9109-414G= (n.9109-414G=) | |
1 | g.152304247C>G | CA342068281 | FLG | c.10639G>C (p.Gly3547Arg) c.9109-414G>C (n.9109-414G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304247C>T | CA342068284 | FLG | c.10639G>A (p.Gly3547Arg) c.9109-414G>A (n.9109-414G>A) | gnomAD v4 |
1 | g.152304247_152304251delinsCCTGA | CA2479947348 | FLG | c.10635_10639delinsTCAGG (p.Ser3545=) c.9109-418_9109-414delinsTCAGG (n.9109-418_9109-414delinsTCAGG) | |
1 | g.152304248C>A | CA342068286 | FLG | c.10638G>T (p.Gln3546His) c.9109-415G>T (n.9109-415G>T) | |
1 | g.152304248C= | CA1147601403 | FLG | c.10638G= (p.Gln3546=) c.9109-415G= (n.9109-415G=) | |
1 | g.152304248C>G | CA30600131 | FLG | c.10638G>C (p.Gln3546His) c.9109-415G>C (n.9109-415G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304248C>T | CA420926282 | FLG | c.10638G>A (p.Gln3546=) c.9109-415G>A (n.9109-415G>A) | |
1 | g.152304251_152304254del | CA1103247 | FLG | c.10635_10638del (p.Ser3545ArgfsTer?) c.9109-418_9109-415del (n.9109-418_9109-415del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304249T>A | CA342068298 | FLG | c.10637A>T (p.Gln3546Leu) c.9109-416A>T (n.9109-416A>T) | |
1 | g.152304249T>C | CA1103248 | FLG | c.10637A>G (p.Gln3546Arg) c.9109-416A>G (n.9109-416A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304249T>G | CA342068295 | FLG | c.10637A>C (p.Gln3546Pro) c.9109-416A>C (n.9109-416A>C) | |
1 | g.152304249T= | CA1144132038 | FLG | c.10637A= (p.Gln3546=) c.9109-416A= (n.9109-416A=) | |
1 | g.152304250G>A | CA342068302 | FLG | c.10636C>T (p.Gln3546Ter) c.9109-417C>T (n.9109-417C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304250G>C | CA1103249 | FLG | c.10636C>G (p.Gln3546Glu) c.9109-417C>G (n.9109-417C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304250G= | CA2479947350 | FLG | c.10636C= (p.Gln3546=) c.9109-417C= (n.9109-417C=) | |
1 | g.152304250G>T | CA342068305 | FLG | c.10636C>A (p.Gln3546Lys) c.9109-417C>A (n.9109-417C>A) | |
1 | g.152304251A= | CA2479947351 | FLG | c.10635T= (p.Ser3545=) c.9109-418T= (n.9109-418T=) | |
1 | g.152304251A>C | CA342068308 | FLG | c.10635T>G (p.Ser3545Arg) c.9109-418T>G (n.9109-418T>G) | |
1 | g.152304251A>G | CA420926288 | FLG | c.10635T>C (p.Ser3545=) c.9109-418T>C (n.9109-418T>C) | |
1 | g.152304251A>T | CA1103250 | FLG | c.10635T>A (p.Ser3545Arg) c.9109-418T>A (n.9109-418T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304252C>A | CA342068321 | FLG | c.10634G>T (p.Ser3545Ile) c.9109-419G>T (n.9109-419G>T) | gnomAD v4 |
1 | g.152304252C>G | CA342068315 | FLG | c.10634G>C (p.Ser3545Thr) c.9109-419G>C (n.9109-419G>C) | gnomAD v4 |
1 | g.152304252C>T | CA342068317 | FLG | c.10634G>A (p.Ser3545Asn) c.9109-419G>A (n.9109-419G>A) | |
1 | g.152304253T>A | CA1103251 | FLG | c.10633A>T (p.Ser3545Cys) c.9109-420A>T (n.9109-420A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304253T>C | CA342068326 | FLG | c.10633A>G (p.Ser3545Gly) c.9109-420A>G (n.9109-420A>G) | gnomAD v4 |
1 | g.152304253T>G | CA342068329 | FLG | c.10633A>C (p.Ser3545Arg) c.9109-420A>C (n.9109-420A>C) | |
1 | g.152304253T= | CA1141946438 | FLG | c.10633A= (p.Ser3545=) c.9109-420A= (n.9109-420A=) | |
1 | g.152304254G>A | CA420926303 | FLG | c.10632C>T (p.Asp3544=) c.9109-421C>T (n.9109-421C>T) | gnomAD v4 |
1 | g.152304254G>C | CA30600140 | FLG | c.10632C>G (p.Asp3544Glu) c.9109-421C>G (n.9109-421C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304254G= | CA2479947352 | FLG | c.10632C= (p.Asp3544=) c.9109-421C= (n.9109-421C=) | |
1 | g.152304254G>T | CA342068335 | FLG | c.10632C>A (p.Asp3544Glu) c.9109-421C>A (n.9109-421C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304255T>A | CA342068346 | FLG | c.10631A>T (p.Asp3544Val) c.9109-422A>T (n.9109-422A>T) | |
1 | g.152304255T>C | CA342068342 | FLG | c.10631A>G (p.Asp3544Gly) c.9109-422A>G (n.9109-422A>G) | |
1 | g.152304255T>G | CA342068340 | FLG | c.10631A>C (p.Asp3544Ala) c.9109-422A>C (n.9109-422A>C) | |
1 | g.152304255dup | CA2647993469 | FLG | c.10631dup (p.Asp3544GlufsTer10) c.9109-422dup (n.9109-422dup) | gnomAD v4 |
1 | g.152304256C>A | CA342068349 | FLG | c.10630G>T (p.Asp3544Tyr) c.9109-423G>T (n.9109-423G>T) | |
1 | g.152304256C>G | CA342068353 | FLG | c.10630G>C (p.Asp3544His) c.9109-423G>C (n.9109-423G>C) | |
1 | g.152304256C>T | CA342068351 | FLG | c.10630G>A (p.Asp3544Asn) c.9109-423G>A (n.9109-423G>A) | |
1 | g.152304257A>C | CA342068356 | FLG | c.10629T>G (p.Ser3543Arg) c.9109-424T>G (n.9109-424T>G) | |
1 | g.152304257A>G | CA420926424 | FLG | c.10629T>C (p.Ser3543=) c.9109-424T>C (n.9109-424T>C) | gnomAD v4 |
1 | g.152304257A>T | CA342068359 | FLG | c.10629T>A (p.Ser3543Arg) c.9109-424T>A (n.9109-424T>A) | |
1 | g.152304258C>A | CA342068362 | FLG | c.10628G>T (p.Ser3543Ile) c.9109-425G>T (n.9109-425G>T) | |
1 | g.152304258C= | CA2479947353 | FLG | c.10628G= (p.Ser3543=) c.9109-425G= (n.9109-425G=) | |
1 | g.152304258C>G | CA342068363 | FLG | c.10628G>C (p.Ser3543Thr) c.9109-425G>C (n.9109-425G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304258C>T | CA342068366 | FLG | c.10628G>A (p.Ser3543Asn) c.9109-425G>A (n.9109-425G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304259T>A | CA342068371 | FLG | c.10627A>T (p.Ser3543Cys) c.9109-426A>T (n.9109-426A>T) | gnomAD v4 |
1 | g.152304259T>C | CA342068374 | FLG | c.10627A>G (p.Ser3543Gly) c.9109-426A>G (n.9109-426A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304259T>G | CA342068377 | FLG | c.10627A>C (p.Ser3543Arg) c.9109-426A>C (n.9109-426A>C) | |
1 | g.152304259T= | CA2479947354 | FLG | c.10627A= (p.Ser3543=) c.9109-426A= (n.9109-426A=) | |
1 | g.152304260G>A | CA1103252 | FLG | c.10626C>T (p.Asp3542=) c.9109-427C>T (n.9109-427C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304260G>C | CA1103253 | FLG | c.10626C>G (p.Asp3542Glu) c.9109-427C>G (n.9109-427C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304260G= | CA1148901758 | FLG | c.10626C= (p.Asp3542=) c.9109-427C= (n.9109-427C=) | |
1 | g.152304260G>T | CA342068383 | FLG | c.10626C>A (p.Asp3542Glu) c.9109-427C>A (n.9109-427C>A) | |
1 | g.152304261T>A | CA342068392 | FLG | c.10625A>T (p.Asp3542Val) c.9109-428A>T (n.9109-428A>T) | |
1 | g.152304261T>C | CA342068390 | FLG | c.10625A>G (p.Asp3542Gly) c.9109-428A>G (n.9109-428A>G) | |
1 | g.152304261T>G | CA342068387 | FLG | c.10625A>C (p.Asp3542Ala) c.9109-428A>C (n.9109-428A>C) | |
1 | g.152304261_152304262delinsTC | CA2479947355 | FLG | c.10624_10625delinsGA (p.Asp3542=) c.9109-429_9109-428delinsGA (n.9109-429_9109-428delinsGA) | |
1 | g.152304262C>A | CA342068396 | FLG | c.10624G>T (p.Asp3542Tyr) c.9109-429G>T (n.9109-429G>T) | |
1 | g.152304262C= | CA1142111275 | FLG | c.10624G= (p.Asp3542=) c.9109-429G= (n.9109-429G=) | |
1 | g.152304262C>G | CA342068399 | FLG | c.10624G>C (p.Asp3542His) c.9109-429G>C (n.9109-429G>C) | gnomAD v4 |
1 | g.152304262C>T | CA1103255 | FLG | c.10624G>A (p.Asp3542Asn) c.9109-429G>A (n.9109-429G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304263del | CA1103254 | FLG | c.10624del (p.Asp3542ThrfsTer?) c.9109-429del (n.9109-429del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304263C>A | CA342068405 | FLG | c.10623G>T (p.Gln3541His) c.9109-430G>T (n.9109-430G>T) | |
1 | g.152304263C>G | CA342068407 | FLG | c.10623G>C (p.Gln3541His) c.9109-430G>C (n.9109-430G>C) | gnomAD v4 |
1 | g.152304263C>T | CA420926434 | FLG | c.10623G>A (p.Gln3541=) c.9109-430G>A (n.9109-430G>A) | gnomAD v4 |
1 | g.152304264T>A | CA342068411 | FLG | c.10622A>T (p.Gln3541Leu) c.9109-431A>T (n.9109-431A>T) | |
1 | g.152304264T>C | CA342068413 | FLG | c.10622A>G (p.Gln3541Arg) c.9109-431A>G (n.9109-431A>G) | |
1 | g.152304264T>G | CA342068414 | FLG | c.10622A>C (p.Gln3541Pro) c.9109-431A>C (n.9109-431A>C) | |
1 | g.152304265G>A | CA1103256 | FLG | c.10621C>T (p.Gln3541Ter) c.9109-432C>T (n.9109-432C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304265G>C | CA342068419 | FLG | c.10621C>G (p.Gln3541Glu) c.9109-432C>G (n.9109-432C>G) | |
1 | g.152304265G= | CA1149114236 | FLG | c.10621C= (p.Gln3541=) c.9109-432C= (n.9109-432C=) | |
1 | g.152304265G>T | CA342068421 | FLG | c.10621C>A (p.Gln3541Lys) c.9109-432C>A (n.9109-432C>A) | |
1 | g.152304266G>A | CA1103257 | FLG | c.10620C>T (p.Ser3540=) c.9109-433C>T (n.9109-433C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304266G>C | CA342068428 | FLG | c.10620C>G (p.Ser3540Arg) c.9109-433C>G (n.9109-433C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304266G= | CA1141900098 | FLG | c.10620C= (p.Ser3540=) c.9109-433C= (n.9109-433C=) | |
1 | g.152304266G>T | CA342068426 | FLG | c.10620C>A (p.Ser3540Arg) c.9109-433C>A (n.9109-433C>A) | |
1 | g.152304267C>A | CA342068439 | FLG | c.10619G>T (p.Ser3540Ile) c.9109-434G>T (n.9109-434G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304267C= | CA2479947356 | FLG | c.10619G= (p.Ser3540=) c.9109-434G= (n.9109-434G=) | |
1 | g.152304267C>G | CA342068434 | FLG | c.10619G>C (p.Ser3540Thr) c.9109-434G>C (n.9109-434G>C) | |
1 | g.152304267C>T | CA342068436 | FLG | c.10619G>A (p.Ser3540Asn) c.9109-434G>A (n.9109-434G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304268T>A | CA342068442 | FLG | c.10618A>T (p.Ser3540Cys) c.9109-435A>T (n.9109-435A>T) | gnomAD v4 |
1 | g.152304268T>C | CA342068445 | FLG | c.10618A>G (p.Ser3540Gly) c.9109-435A>G (n.9109-435A>G) | |
1 | g.152304268T>G | CA342068448 | FLG | c.10618A>C (p.Ser3540Arg) c.9109-435A>C (n.9109-435A>C) | |
1 | g.152304268_152304274del | CA2604727330 | FLG | c.10612_10618del (p.Ser3538AlafsTer?) c.9109-441_9109-435del (n.9109-441_9109-435del) | gnomAD v3 gnomAD v4 |
1 | g.152304269A>C | CA420926445 | FLG | c.10617T>G (p.Val3539=) c.9109-436T>G (n.9109-436T>G) | gnomAD v4 |
1 | g.152304269A>G | CA420926446 | FLG | c.10617T>C (p.Val3539=) c.9109-436T>C (n.9109-436T>C) | |
1 | g.152304269A>T | CA420926447 | FLG | c.10617T>A (p.Val3539=) c.9109-436T>A (n.9109-436T>A) | |
1 | g.152304270A= | CA2479947357 | FLG | c.10616T= (p.Val3539=) c.9109-437T= (n.9109-437T=) | |
1 | g.152304270A>C | CA342068452 | FLG | c.10616T>G (p.Val3539Gly) c.9109-437T>G (n.9109-437T>G) | dbSNP |
1 | g.152304270A>G | CA342068454 | FLG | c.10616T>C (p.Val3539Ala) c.9109-437T>C (n.9109-437T>C) | |
1 | g.152304270A>T | CA342068457 | FLG | c.10616T>A (p.Val3539Asp) c.9109-437T>A (n.9109-437T>A) | |
1 | g.152304271C>A | CA1103258 | FLG | c.10615G>T (p.Val3539Phe) c.9109-438G>T (n.9109-438G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304271C= | CA2479947358 | FLG | c.10615G= (p.Val3539=) c.9109-438G= (n.9109-438G=) | |
1 | g.152304271C>G | CA342068462 | FLG | c.10615G>C (p.Val3539Leu) c.9109-438G>C (n.9109-438G>C) | |
1 | g.152304271C>T | CA342068466 | FLG | c.10615G>A (p.Val3539Ile) c.9109-438G>A (n.9109-438G>A) | |
1 | g.152304272A= | CA2479947359 | FLG | c.10614T= (p.Ser3538=) c.9109-439T= (n.9109-439T=) | |
1 | g.152304272A>C | CA342068472 | FLG | c.10614T>G (p.Ser3538Arg) c.9109-439T>G (n.9109-439T>G) | |
1 | g.152304272A>G | CA420926450 | FLG | c.10614T>C (p.Ser3538=) c.9109-439T>C (n.9109-439T>C) | |
1 | g.152304272A>T | CA342068475 | FLG | c.10614T>A (p.Ser3538Arg) c.9109-439T>A (n.9109-439T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304273C>A | CA342068486 | FLG | c.10613G>T (p.Ser3538Ile) c.9109-440G>T (n.9109-440G>T) | COSMIC |
1 | g.152304273C>G | CA342068479 | FLG | c.10613G>C (p.Ser3538Thr) c.9109-440G>C (n.9109-440G>C) | |
1 | g.152304273C>T | CA342068482 | FLG | c.10613G>A (p.Ser3538Asn) c.9109-440G>A (n.9109-440G>A) | |
1 | g.152304274T>A | CA342068490 | FLG | c.10612A>T (p.Ser3538Cys) c.9109-441A>T (n.9109-441A>T) | |
1 | g.152304274T>C | CA342068491 | FLG | c.10612A>G (p.Ser3538Gly) c.9109-441A>G (n.9109-441A>G) | dbSNP |
1 | g.152304274T>G | CA342068494 | FLG | c.10612A>C (p.Ser3538Arg) c.9109-441A>C (n.9109-441A>C) | gnomAD v4 |
1 | g.152304274T= | CA2479947360 | FLG | c.10612A= (p.Ser3538=) c.9109-441A= (n.9109-441A=) | |
1 | g.152304275G>A | CA420926458 | FLG | c.10611C>T (p.Ser3537=) c.9109-442C>T (n.9109-442C>T) | |
1 | g.152304275G>C | CA420926460 | FLG | c.10611C>G (p.Ser3537=) c.9109-442C>G (n.9109-442C>G) | |
1 | g.152304275G>T | CA420926459 | FLG | c.10611C>A (p.Ser3537=) c.9109-442C>A (n.9109-442C>A) | |
1 | g.152304276G>A | CA342068497 | FLG | c.10610C>T (p.Ser3537Phe) c.9109-443C>T (n.9109-443C>T) | gnomAD v4 |
1 | g.152304276G>C | CA342068499 | FLG | c.10610C>G (p.Ser3537Cys) c.9109-443C>G (n.9109-443C>G) | |
1 | g.152304276G= | CA2479947361 | FLG | c.10610C= (p.Ser3537=) c.9109-443C= (n.9109-443C=) | |
1 | g.152304276G>T | CA30600216 | FLG | c.10610C>A (p.Ser3537Tyr) c.9109-443C>A (n.9109-443C>A) | dbSNP gnomAD v4 |
1 | g.152304276_152304286del | CA2604727332 | FLG | c.10600_10610del (p.Asn3534GlnfsTer3) c.9109-453_9109-443del (n.9109-453_9109-443del) | gnomAD v3 gnomAD v4 |
1 | g.152304277A= | CA1146250119 | FLG | c.10609T= (p.Ser3537=) c.9109-444T= (n.9109-444T=) | |
1 | g.152304277A>C | CA342068506 | FLG | c.10609T>G (p.Ser3537Ala) c.9109-444T>G (n.9109-444T>G) | |
1 | g.152304277A>G | CA1103260 | FLG | c.10609T>C (p.Ser3537Pro) c.9109-444T>C (n.9109-444T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304277A>T | CA1103259 | FLG | c.10609T>A (p.Ser3537Thr) c.9109-444T>A (n.9109-444T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304278T>A | CA420926464 | FLG | c.10608A>T (p.Gly3536=) c.9109-445A>T (n.9109-445A>T) | |
1 | g.152304278T>C | CA420926465 | FLG | c.10608A>G (p.Gly3536=) c.9109-445A>G (n.9109-445A>G) | |
1 | g.152304278T>G | CA420926466 | FLG | c.10608A>C (p.Gly3536=) c.9109-445A>C (n.9109-445A>C) | |
1 | g.152304279C>A | CA342068514 | FLG | c.10607G>T (p.Gly3536Val) c.9109-446G>T (n.9109-446G>T) | |
1 | g.152304279C= | CA2479947362 | FLG | c.10607G= (p.Gly3536=) c.9109-446G= (n.9109-446G=) | |
1 | g.152304279C>G | CA342068517 | FLG | c.10607G>C (p.Gly3536Ala) c.9109-446G>C (n.9109-446G>C) | |
1 | g.152304279C>T | CA342068521 | FLG | c.10607G>A (p.Gly3536Glu) c.9109-446G>A (n.9109-446G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304280C>A | CA342068527 | FLG | c.10606G>T (p.Gly3536Ter) c.9109-447G>T (n.9109-447G>T) | dbSNP gnomAD v4 |
1 | g.152304280C= | CA2479947363 | FLG | c.10606G= (p.Gly3536=) c.9109-447G= (n.9109-447G=) | |
1 | g.152304280C>G | CA1103261 | FLG | c.10606G>C (p.Gly3536Arg) c.9109-447G>C (n.9109-447G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304280C>T | CA342068524 | FLG | c.10606G>A (p.Gly3536Arg) c.9109-447G>A (n.9109-447G>A) | gnomAD v4 |
1 | g.152304281C>A | CA342068533 | FLG | c.10605G>T (p.Gln3535His) c.9109-448G>T (n.9109-448G>T) | |
1 | g.152304281C>G | CA342068535 | FLG | c.10605G>C (p.Gln3535His) c.9109-448G>C (n.9109-448G>C) | |
1 | g.152304281C>T | CA420926470 | FLG | c.10605G>A (p.Gln3535=) c.9109-448G>A (n.9109-448G>A) | |
1 | g.152304282T>A | CA342068540 | FLG | c.10604A>T (p.Gln3535Leu) c.9109-449A>T (n.9109-449A>T) | |
1 | g.152304282T>C | CA342068542 | FLG | c.10604A>G (p.Gln3535Arg) c.9109-449A>G (n.9109-449A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304282T>G | CA342068544 | FLG | c.10604A>C (p.Gln3535Pro) c.9109-449A>C (n.9109-449A>C) | gnomAD v4 |
1 | g.152304282T= | CA2479947364 | FLG | c.10604A= (p.Gln3535=) c.9109-449A= (n.9109-449A=) | |
1 | g.152304283G>A | CA342068549 | FLG | c.10603C>T (p.Gln3535Ter) c.9109-450C>T (n.9109-450C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304283G>C | CA342068552 | FLG | c.10603C>G (p.Gln3535Glu) c.9109-450C>G (n.9109-450C>G) | dbSNP |
1 | g.152304283G= | CA2479947365 | FLG | c.10603C= (p.Gln3535=) c.9109-450C= (n.9109-450C=) | |
1 | g.152304283G>T | CA342068555 | FLG | c.10603C>A (p.Gln3535Lys) c.9109-450C>A (n.9109-450C>A) | |
1 | g.152304284G>A | CA420926477 | FLG | c.10602C>T (p.Asn3534=) c.9109-451C>T (n.9109-451C>T) | gnomAD v4 |
1 | g.152304284G>C | CA1103262 | FLG | c.10602C>G (p.Asn3534Lys) c.9109-451C>G (n.9109-451C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304284G= | CA2479947366 | FLG | c.10602C= (p.Asn3534=) c.9109-451C= (n.9109-451C=) | |
1 | g.152304284G>T | CA342068560 | FLG | c.10602C>A (p.Asn3534Lys) c.9109-451C>A (n.9109-451C>A) | |
1 | g.152304285T>A | CA342068564 | FLG | c.10601A>T (p.Asn3534Ile) c.9109-452A>T (n.9109-452A>T) | gnomAD v4 |
1 | g.152304285T>C | CA1103263 | FLG | c.10601A>G (p.Asn3534Ser) c.9109-452A>G (n.9109-452A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304285T>G | CA342068569 | FLG | c.10601A>C (p.Asn3534Thr) c.9109-452A>C (n.9109-452A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304285T= | CA1147294941 | FLG | c.10601A= (p.Asn3534=) c.9109-452A= (n.9109-452A=) | |
1 | g.152304285_152304286del | CA2647993480 | FLG | c.10600_10601del (p.Asn3534ProfsTer6) c.9109-453_9109-452del (n.9109-453_9109-452del) | gnomAD v4 |
1 | g.152304286T>A | CA1103264 | FLG | c.10600A>T (p.Asn3534Tyr) c.9109-453A>T (n.9109-453A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304286T>C | CA342068575 | FLG | c.10600A>G (p.Asn3534Asp) c.9109-453A>G (n.9109-453A>G) | gnomAD v4 |
1 | g.152304286T>G | CA1103265 | FLG | c.10600A>C (p.Asn3534His) c.9109-453A>C (n.9109-453A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304286T= | CA1140416061 | FLG | c.10600A= (p.Asn3534=) c.9109-453A= (n.9109-453A=) | |
1 | g.152304287C>A | CA342068580 | FLG | c.10599G>T (p.Arg3533Ser) c.9109-454G>T (n.9109-454G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304287C= | CA2479947367 | FLG | c.10599G= (p.Arg3533=) c.9109-454G= (n.9109-454G=) | |
1 | g.152304287C>G | CA342068583 | FLG | c.10599G>C (p.Arg3533Ser) c.9109-454G>C (n.9109-454G>C) | |
1 | g.152304287C>T | CA420926488 | FLG | c.10599G>A (p.Arg3533=) c.9109-454G>A (n.9109-454G>A) | dbSNP gnomAD v4 COSMIC |
1 | g.152304287_152304288insGT | CA2647993481 | FLG | c.10598_10599insAC (p.Asn3534ArgfsTer?) c.9109-455_9109-454insAC (n.9109-455_9109-454insAC) | gnomAD v4 |
1 | g.152304288C>A | CA342068587 | FLG | c.10598G>T (p.Arg3533Met) c.9109-455G>T (n.9109-455G>T) | |
1 | g.152304288C>G | CA342068589 | FLG | c.10598G>C (p.Arg3533Thr) c.9109-455G>C (n.9109-455G>C) | gnomAD v4 |
1 | g.152304288C>T | CA342068592 | FLG | c.10598G>A (p.Arg3533Lys) c.9109-455G>A (n.9109-455G>A) | |
1 | g.152304289T>A | CA342068595 | FLG | c.10597A>T (p.Arg3533Trp) c.9109-456A>T (n.9109-456A>T) | gnomAD v4 |
1 | g.152304289T>C | CA342068598 | FLG | c.10597A>G (p.Arg3533Gly) c.9109-456A>G (n.9109-456A>G) | |
1 | g.152304289T>G | CA420926491 | FLG | c.10597A>C (p.Arg3533=) c.9109-456A>C (n.9109-456A>C) | |
1 | g.152304290G>A | CA1103266 | FLG | c.10596C>T (p.Ser3532=) c.9109-457C>T (n.9109-457C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304290G>C | CA342068602 | FLG | c.10596C>G (p.Ser3532Arg) c.9109-457C>G (n.9109-457C>G) | |
1 | g.152304290G= | CA2479947368 | FLG | c.10596C= (p.Ser3532=) c.9109-457C= (n.9109-457C=) | |
1 | g.152304290G>T | CA342068605 | FLG | c.10596C>A (p.Ser3532Arg) c.9109-457C>A (n.9109-457C>A) | |
1 | g.152304291C>A | CA342068609 | FLG | c.10595G>T (p.Ser3532Ile) c.9109-458G>T (n.9109-458G>T) | dbSNP |
1 | g.152304291C= | CA2479947369 | FLG | c.10595G= (p.Ser3532=) c.9109-458G= (n.9109-458G=) | |
1 | g.152304291C>G | CA342068612 | FLG | c.10595G>C (p.Ser3532Thr) c.9109-458G>C (n.9109-458G>C) | |
1 | g.152304291C>T | CA342068615 | FLG | c.10595G>A (p.Ser3532Asn) c.9109-458G>A (n.9109-458G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304292T>A | CA342068623 | FLG | c.10594A>T (p.Ser3532Cys) c.9109-459A>T (n.9109-459A>T) | gnomAD v4 |
1 | g.152304292T>C | CA342068625 | FLG | c.10594A>G (p.Ser3532Gly) c.9109-459A>G (n.9109-459A>G) | gnomAD v4 COSMIC |
1 | g.152304292T>G | CA342068618 | FLG | c.10594A>C (p.Ser3532Arg) c.9109-459A>C (n.9109-459A>C) | |
1 | g.152304293T>A | CA420926498 | FLG | c.10593A>T (p.Thr3531=) c.9109-460A>T (n.9109-460A>T) | |
1 | g.152304293T>C | CA420926500 | FLG | c.10593A>G (p.Thr3531=) c.9109-460A>G (n.9109-460A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304293T>G | CA420926502 | FLG | c.10593A>C (p.Thr3531=) c.9109-460A>C (n.9109-460A>C) | gnomAD v4 |
1 | g.152304294G>A | CA342068628 | FLG | c.10592C>T (p.Thr3531Ile) c.9109-461C>T (n.9109-461C>T) | gnomAD v4 |
1 | g.152304294G>C | CA1103267 | FLG | c.10592C>G (p.Thr3531Arg) c.9109-461C>G (n.9109-461C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304294G= | CA2479947370 | FLG | c.10592C= (p.Thr3531=) c.9109-461C= (n.9109-461C=) | |
1 | g.152304294G>T | CA342068636 | FLG | c.10592C>A (p.Thr3531Lys) c.9109-461C>A (n.9109-461C>A) | dbSNP |
1 | g.152304295T>A | CA342068640 | FLG | c.10591A>T (p.Thr3531Ser) c.9109-462A>T (n.9109-462A>T) | |
1 | g.152304295T>C | CA342068642 | FLG | c.10591A>G (p.Thr3531Ala) c.9109-462A>G (n.9109-462A>G) | |
1 | g.152304295T>G | CA342068644 | FLG | c.10591A>C (p.Thr3531Pro) c.9109-462A>C (n.9109-462A>C) | |
1 | g.152304296C>A | CA1103268 | FLG | c.10590G>T (p.Arg3530Ser) c.9109-463G>T (n.9109-463G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304296C= | CA1140814079 | FLG | c.10590G= (p.Arg3530=) c.9109-463G= (n.9109-463G=) | |
1 | g.152304296C>G | CA342068649 | FLG | c.10590G>C (p.Arg3530Ser) c.9109-463G>C (n.9109-463G>C) | gnomAD v4 |
1 | g.152304296C>T | CA1103269 | FLG | c.10590G>A (p.Arg3530=) c.9109-463G>A (n.9109-463G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304297C>A | CA342068654 | FLG | c.10589G>T (p.Arg3530Met) c.9109-464G>T (n.9109-464G>T) | |
1 | g.152304297C= | CA2479947371 | FLG | c.10589G= (p.Arg3530=) c.9109-464G= (n.9109-464G=) | |
1 | g.152304297C>G | CA342068657 | FLG | c.10589G>C (p.Arg3530Thr) c.9109-464G>C (n.9109-464G>C) | |
1 | g.152304297C>T | CA30600272 | FLG | c.10589G>A (p.Arg3530Lys) c.9109-464G>A (n.9109-464G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304298T>A | CA342068664 | FLG | c.10588A>T (p.Arg3530Trp) c.9109-465A>T (n.9109-465A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304298T>C | CA342068662 | FLG | c.10588A>G (p.Arg3530Gly) c.9109-465A>G (n.9109-465A>G) | |
1 | g.152304298T>G | CA420926509 | FLG | c.10588A>C (p.Arg3530=) c.9109-465A>C (n.9109-465A>C) | |
1 | g.152304298T= | CA2479947372 | FLG | c.10588A= (p.Arg3530=) c.9109-465A= (n.9109-465A=) | |
1 | g.152304298_152304299delinsTG | CA2479947373 | FLG | c.10587_10588delinsCA (p.Pro3529=) c.9109-466_9109-465delinsCA (n.9109-466_9109-465delinsCA) | |
1 | g.152304299G>A | CA420926517 | FLG | c.10587C>T (p.Pro3529=) c.9109-466C>T (n.9109-466C>T) | |
1 | g.152304299G>C | CA420926515 | FLG | c.10587C>G (p.Pro3529=) c.9109-466C>G (n.9109-466C>G) | |
1 | g.152304299G>T | CA420926513 | FLG | c.10587C>A (p.Pro3529=) c.9109-466C>A (n.9109-466C>A) | gnomAD v4 |
1 | g.152304300_152304301dup | CA2647993482 | FLG | c.10586_10587dup (p.Arg3530ProfsTer?) c.9109-467_9109-466dup (n.9109-467_9109-466dup) | gnomAD v4 |
1 | g.152304301del | CA1103270 | FLG | c.10587del (p.Arg3530GlyfsTer?) c.9109-466del (n.9109-466del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304300G>A | CA342068668 | FLG | c.10586C>T (p.Pro3529Leu) c.9109-467C>T (n.9109-467C>T) | COSMIC |
1 | g.152304300G>C | CA342068671 | FLG | c.10586C>G (p.Pro3529Arg) c.9109-467C>G (n.9109-467C>G) | gnomAD v4 |
1 | g.152304300G>T | CA342068674 | FLG | c.10586C>A (p.Pro3529His) c.9109-467C>A (n.9109-467C>A) | |
1 | g.152304301G>A | CA1103271 | FLG | c.10585C>T (p.Pro3529Ser) c.9109-468C>T (n.9109-468C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304301G>C | CA342068681 | FLG | c.10585C>G (p.Pro3529Ala) c.9109-468C>G (n.9109-468C>G) | |
1 | g.152304301G= | CA1140426999 | FLG | c.10585C= (p.Pro3529=) c.9109-468C= (n.9109-468C=) | |
1 | g.152304301G>T | CA342068685 | FLG | c.10585C>A (p.Pro3529Thr) c.9109-468C>A (n.9109-468C>A) | |
1 | g.152304301_152304302delinsGC | CA2479947374 | FLG | c.10584_10585delinsGC (p.Gly3528=) c.9109-469_9109-468delinsGC (n.9109-469_9109-468delinsGC) | |
1 | g.152304302C>A | CA420926519 | FLG | c.10584G>T (p.Gly3528=) c.9109-469G>T (n.9109-469G>T) | dbSNP gnomAD v4 |
1 | g.152304302C= | CA2479947375 | FLG | c.10584G= (p.Gly3528=) c.9109-469G= (n.9109-469G=) | |
1 | g.152304302C>G | CA420926524 | FLG | c.10584G>C (p.Gly3528=) c.9109-469G>C (n.9109-469G>C) | |
1 | g.152304302C>T | CA420926521 | FLG | c.10584G>A (p.Gly3528=) c.9109-469G>A (n.9109-469G>A) | gnomAD v4 |
1 | g.152304305del | CA1007763776 | FLG | c.10584del (p.Arg3530GlyfsTer?) c.9109-469del (n.9109-469del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304303C>A | CA342068689 | FLG | c.10583G>T (p.Gly3528Val) c.9109-470G>T (n.9109-470G>T) | gnomAD v4 |
1 | g.152304303C= | CA2479947376 | FLG | c.10583G= (p.Gly3528=) c.9109-470G= (n.9109-470G=) | |
1 | g.152304303C>G | CA342068694 | FLG | c.10583G>C (p.Gly3528Ala) c.9109-470G>C (n.9109-470G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304303C>T | CA342068697 | FLG | c.10583G>A (p.Gly3528Glu) c.9109-470G>A (n.9109-470G>A) | dbSNP gnomAD v4 |
1 | g.152304304C>A | CA342068702 | FLG | c.10582G>T (p.Gly3528Trp) c.9109-471G>T (n.9109-471G>T) | |
1 | g.152304304C>G | CA342068704 | FLG | c.10582G>C (p.Gly3528Arg) c.9109-471G>C (n.9109-471G>C) | gnomAD v4 |
1 | g.152304304C>T | CA342068706 | FLG | c.10582G>A (p.Gly3528Arg) c.9109-471G>A (n.9109-471G>A) | |
1 | g.152304305C>A | CA420926527 | FLG | c.10581G>T (p.Ala3527=) c.9109-472G>T (n.9109-472G>T) | |
1 | g.152304305C= | CA1143384904 | FLG | c.10581G= (p.Ala3527=) c.9109-472G= (n.9109-472G=) | |
1 | g.152304305C>G | CA420926529 | FLG | c.10581G>C (p.Ala3527=) c.9109-472G>C (n.9109-472G>C) | gnomAD v4 |
1 | g.152304305C>T | CA1103272 | FLG | c.10581G>A (p.Ala3527=) c.9109-472G>A (n.9109-472G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304306G>A | CA1103274 | FLG | c.10580C>T (p.Ala3527Val) c.9109-473C>T (n.9109-473C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304306G>C | CA342068711 | FLG | c.10580C>G (p.Ala3527Gly) c.9109-473C>G (n.9109-473C>G) | |
1 | g.152304306G= | CA1140427000 | FLG | c.10580C= (p.Ala3527=) c.9109-473C= (n.9109-473C=) | |
1 | g.152304306G>T | CA1103273 | FLG | c.10580C>A (p.Ala3527Glu) c.9109-473C>A (n.9109-473C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304307C>A | CA342068719 | FLG | c.10579G>T (p.Ala3527Ser) c.9109-474G>T (n.9109-474G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304307C= | CA2479947377 | FLG | c.10579G= (p.Ala3527=) c.9109-474G= (n.9109-474G=) | |
1 | g.152304307C>G | CA342068729 | FLG | c.10579G>C (p.Ala3527Pro) c.9109-474G>C (n.9109-474G>C) | |
1 | g.152304307C>T | CA342068722 | FLG | c.10579G>A (p.Ala3527Thr) c.9109-474G>A (n.9109-474G>A) | gnomAD v4 |
1 | g.152304308T>A | CA420926533 | FLG | c.10578A>T (p.Ser3526=) c.9109-475A>T (n.9109-475A>T) | |
1 | g.152304308T>C | CA420926534 | FLG | c.10578A>G (p.Ser3526=) c.9109-475A>G (n.9109-475A>G) | |
1 | g.152304308T>G | CA1103275 | FLG | c.10578A>C (p.Ser3526=) c.9109-475A>C (n.9109-475A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304308T= | CA2479947378 | FLG | c.10578A= (p.Ser3526=) c.9109-475A= (n.9109-475A=) | |
1 | g.152304309G>A | CA342068736 | FLG | c.10577C>T (p.Ser3526Leu) c.9109-476C>T (n.9109-476C>T) | dbSNP |
1 | g.152304309G>C | CA342068737 | FLG | c.10577C>G (p.Ser3526Ter) c.9109-476C>G (n.9109-476C>G) | |
1 | g.152304309G= | CA2479947379 | FLG | c.10577C= (p.Ser3526=) c.9109-476C= (n.9109-476C=) | |
1 | g.152304309G>T | CA342068741 | FLG | c.10577C>A (p.Ser3526Ter) c.9109-476C>A (n.9109-476C>A) | dbSNP gnomAD v4 |
1 | g.152304310A>C | CA342068744 | FLG | c.10576T>G (p.Ser3526Ala) c.9109-477T>G (n.9109-477T>G) | |
1 | g.152304310A>G | CA342068746 | FLG | c.10576T>C (p.Ser3526Pro) c.9109-477T>C (n.9109-477T>C) | |
1 | g.152304310A>T | CA342068748 | FLG | c.10576T>A (p.Ser3526Thr) c.9109-477T>A (n.9109-477T>A) | |
1 | g.152304311T>A | CA342068750 | FLG | c.10575A>T (p.Gln3525His) c.9109-478A>T (n.9109-478A>T) | |
1 | g.152304311T>C | CA420926538 | FLG | c.10575A>G (p.Gln3525=) c.9109-478A>G (n.9109-478A>G) | gnomAD v4 |
1 | g.152304311T>G | CA342068751 | FLG | c.10575A>C (p.Gln3525His) c.9109-478A>C (n.9109-478A>C) | COSMIC |
1 | g.152304312T>A | CA342068752 | FLG | c.10574A>T (p.Gln3525Leu) c.9109-479A>T (n.9109-479A>T) | gnomAD v4 |
1 | g.152304312T>C | CA342068753 | FLG | c.10574A>G (p.Gln3525Arg) c.9109-479A>G (n.9109-479A>G) | |
1 | g.152304312T>G | CA342068754 | FLG | c.10574A>C (p.Gln3525Pro) c.9109-479A>C (n.9109-479A>C) | |
1 | g.152304313G>A | CA342068765 | FLG | c.10573C>T (p.Gln3525Ter) c.9109-480C>T (n.9109-480C>T) | |
1 | g.152304313G>C | CA1103276 | FLG | c.10573C>G (p.Gln3525Glu) c.9109-480C>G (n.9109-480C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304313G= | CA2479947380 | FLG | c.10573C= (p.Gln3525=) c.9109-480C= (n.9109-480C=) | |
1 | g.152304313G>T | CA1103277 | FLG | c.10573C>A (p.Gln3525Lys) c.9109-480C>A (n.9109-480C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304314T>A | CA420926544 | FLG | c.10572A>T (p.Gly3524=) c.9109-481A>T (n.9109-481A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304314T>C | CA420926545 | FLG | c.10572A>G (p.Gly3524=) c.9109-481A>G (n.9109-481A>G) | dbSNP |
1 | g.152304314T>G | CA420926546 | FLG | c.10572A>C (p.Gly3524=) c.9109-481A>C (n.9109-481A>C) | |
1 | g.152304314T= | CA2479947382 | FLG | c.10572A= (p.Gly3524=) c.9109-481A= (n.9109-481A=) | |
1 | g.152304314_152304315delinsTC | CA2479947381 | FLG | c.10571_10572delinsGA (p.Gly3524=) c.9109-482_9109-481delinsGA (n.9109-482_9109-481delinsGA) | |
1 | g.152304315C>A | CA342068767 | FLG | c.10571G>T (p.Gly3524Val) c.9109-482G>T (n.9109-482G>T) | gnomAD v4 |
1 | g.152304315C= | CA2479947384 | FLG | c.10571G= (p.Gly3524=) c.9109-482G= (n.9109-482G=) | |
1 | g.152304315C>G | CA342068769 | FLG | c.10571G>C (p.Gly3524Ala) c.9109-482G>C (n.9109-482G>C) | |
1 | g.152304315C>T | CA342068772 | FLG | c.10571G>A (p.Gly3524Glu) c.9109-482G>A (n.9109-482G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304317del | CA2479947383 | FLG | c.10571del (p.Gly3524AspfsTer?) c.9109-482del (n.9109-482del) | dbSNP gnomAD v4 |
1 | g.152304316C>A | CA30600351 | FLG | c.10570G>T (p.Gly3524Ter) c.9109-483G>T (n.9109-483G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304316C= | CA2479947385 | FLG | c.10570G= (p.Gly3524=) c.9109-483G= (n.9109-483G=) | |
1 | g.152304316C>G | CA342068779 | FLG | c.10570G>C (p.Gly3524Arg) c.9109-483G>C (n.9109-483G>C) | |
1 | g.152304316C>T | CA1103278 | FLG | c.10570G>A (p.Gly3524Arg) c.9109-483G>A (n.9109-483G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304317C>A | CA342068784 | FLG | c.10569G>T (p.Gln3523His) c.9109-484G>T (n.9109-484G>T) | |
1 | g.152304317C>G | CA342068786 | FLG | c.10569G>C (p.Gln3523His) c.9109-484G>C (n.9109-484G>C) | gnomAD v4 |
1 | g.152304317C>T | CA420926550 | FLG | c.10569G>A (p.Gln3523=) c.9109-484G>A (n.9109-484G>A) | |
1 | g.152304318T>A | CA342068787 | FLG | c.10568A>T (p.Gln3523Leu) c.9109-485A>T (n.9109-485A>T) | |
1 | g.152304318T>C | CA342068789 | FLG | c.10568A>G (p.Gln3523Arg) c.9109-485A>G (n.9109-485A>G) | |
1 | g.152304318T>G | CA342068792 | FLG | c.10568A>C (p.Gln3523Pro) c.9109-485A>C (n.9109-485A>C) | gnomAD v4 |
1 | g.152304318_152304322delinsTGGCC | CA2479947386 | FLG | c.10564_10568delinsGGCCA (p.Gly3522=) c.9109-489_9109-485delinsGGCCA (n.9109-489_9109-485delinsGGCCA) | |
1 | g.152304319G>A | CA342068798 | FLG | c.10567C>T (p.Gln3523Ter) c.9109-486C>T (n.9109-486C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304319G>C | CA342068814 | FLG | c.10567C>G (p.Gln3523Glu) c.9109-486C>G (n.9109-486C>G) | gnomAD v4 |
1 | g.152304319G= | CA2479947387 | FLG | c.10567C= (p.Gln3523=) c.9109-486C= (n.9109-486C=) | |
1 | g.152304319G>T | CA342068797 | FLG | c.10567C>A (p.Gln3523Lys) c.9109-486C>A (n.9109-486C>A) | gnomAD v4 |
1 | g.152304321_152304324del | CA526662129 | FLG | c.10564_10567del (p.Gly3522ArgfsTer?) c.9109-489_9109-486del (n.9109-489_9109-486del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304320G>A | CA420926554 | FLG | c.10566C>T (p.Gly3522=) c.9109-487C>T (n.9109-487C>T) | dbSNP |
1 | g.152304320G>C | CA420926556 | FLG | c.10566C>G (p.Gly3522=) c.9109-487C>G (n.9109-487C>G) | gnomAD v4 |
1 | g.152304320G= | CA2479947388 | FLG | c.10566C= (p.Gly3522=) c.9109-487C= (n.9109-487C=) | |
1 | g.152304320G>T | CA1103279 | FLG | c.10566C>A (p.Gly3522=) c.9109-487C>A (n.9109-487C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304320_152304321insA | CA2647993484 | FLG | c.10565_10566insT (p.Gln3523ProfsTer18) c.9109-488_9109-487insT (n.9109-488_9109-487insT) | gnomAD v4 |
1 | g.152304321C>A | CA1103280 | FLG | c.10565G>T (p.Gly3522Val) c.9109-488G>T (n.9109-488G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304321C= | CA1147658161 | FLG | c.10565G= (p.Gly3522=) c.9109-488G= (n.9109-488G=) | |
1 | g.152304321C>G | CA342068817 | FLG | c.10565G>C (p.Gly3522Ala) c.9109-488G>C (n.9109-488G>C) | |
1 | g.152304321C>T | CA1103281 | FLG | c.10565G>A (p.Gly3522Asp) c.9109-488G>A (n.9109-488G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304322C>A | CA1103283 | FLG | c.10564G>T (p.Gly3522Cys) c.9109-489G>T (n.9109-489G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304322C= | CA1141431108 | FLG | c.10564G= (p.Gly3522=) c.9109-489G= (n.9109-489G=) | |
1 | g.152304322C>G | CA342068826 | FLG | c.10564G>C (p.Gly3522Arg) c.9109-489G>C (n.9109-489G>C) | |
1 | g.152304322C>T | CA1103282 | FLG | c.10564G>A (p.Gly3522Ser) c.9109-489G>A (n.9109-489G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304323G>A | CA1103284 | FLG | c.10563C>T (p.Ser3521=) c.9109-490C>T (n.9109-490C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304323G>C | CA1103286 | FLG | c.10563C>G (p.Ser3521=) c.9109-490C>G (n.9109-490C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304323G= | CA1141626146 | FLG | c.10563C= (p.Ser3521=) c.9109-490C= (n.9109-490C=) | |
1 | g.152304323G>T | CA1103285 | FLG | c.10563C>A (p.Ser3521=) c.9109-490C>A (n.9109-490C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304323_152304325del | CA2647993485 | FLG | c.10561_10563del (p.Ser3521del) c.9109-492_9109-490del (n.9109-492_9109-490del) | gnomAD v4 |
1 | g.152304324G>A | CA1103288 | FLG | c.10562C>T (p.Ser3521Phe) c.9109-491C>T (n.9109-491C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304324G>C | CA342068840 | FLG | c.10562C>G (p.Ser3521Cys) c.9109-491C>G (n.9109-491C>G) | dbSNP gnomAD v4 |
1 | g.152304324G= | CA2479947389 | FLG | c.10562C= (p.Ser3521=) c.9109-491C= (n.9109-491C=) | |
1 | g.152304324G>T | CA1103287 | FLG | c.10562C>A (p.Ser3521Tyr) c.9109-491C>A (n.9109-491C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304325A= | CA1144408182 | FLG | c.10561T= (p.Ser3521=) c.9109-492T= (n.9109-492T=) | |
1 | g.152304325A>C | CA1103289 | FLG | c.10561T>G (p.Ser3521Ala) c.9109-492T>G (n.9109-492T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304325A>G | CA342068864 | FLG | c.10561T>C (p.Ser3521Pro) c.9109-492T>C (n.9109-492T>C) | |
1 | g.152304325A>T | CA342068855 | FLG | c.10561T>A (p.Ser3521Thr) c.9109-492T>A (n.9109-492T>A) | |
1 | g.152304326C>A | CA342068868 | FLG | c.10560G>T (p.Gln3520His) c.9109-493G>T (n.9109-493G>T) | |
1 | g.152304326C>G | CA342068869 | FLG | c.10560G>C (p.Gln3520His) c.9109-493G>C (n.9109-493G>C) | |
1 | g.152304326C>T | CA420926560 | FLG | c.10560G>A (p.Gln3520=) c.9109-493G>A (n.9109-493G>A) | |
1 | g.152304327T>A | CA342068870 | FLG | c.10559A>T (p.Gln3520Leu) c.9109-494A>T (n.9109-494A>T) | gnomAD v4 |
1 | g.152304327T>C | CA342068871 | FLG | c.10559A>G (p.Gln3520Arg) c.9109-494A>G (n.9109-494A>G) | |
1 | g.152304327T>G | CA1103290 | FLG | c.10559A>C (p.Gln3520Pro) c.9109-494A>C (n.9109-494A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304327T= | CA1141175225 | FLG | c.10559A= (p.Gln3520=) c.9109-494A= (n.9109-494A=) | |
1 | g.152304328G>A | CA1103291 | FLG | c.10558C>T (p.Gln3520Ter) c.9109-495C>T (n.9109-495C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304328G>C | CA342068884 | FLG | c.10558C>G (p.Gln3520Glu) c.9109-495C>G (n.9109-495C>G) | gnomAD v4 COSMIC |
1 | g.152304328G= | CA2479947390 | FLG | c.10558C= (p.Gln3520=) c.9109-495C= (n.9109-495C=) | |
1 | g.152304328G>T | CA342068896 | FLG | c.10558C>A (p.Gln3520Lys) c.9109-495C>A (n.9109-495C>A) | |
1 | g.152304328_152304329insCCGG | CA2647993487 | FLG | c.10558_10559insCGGC (p.Gln3520ProfsTer22) c.9109-495_9109-494insCGGC (n.9109-495_9109-494insCGGC) | gnomAD v4 |
1 | g.152304329T>A | CA420926563 | FLG | c.10557A>T (p.Ser3519=) c.9109-496A>T (n.9109-496A>T) | |
1 | g.152304329T>C | CA420926565 | FLG | c.10557A>G (p.Ser3519=) c.9109-496A>G (n.9109-496A>G) | dbSNP |
1 | g.152304329T>G | CA420926564 | FLG | c.10557A>C (p.Ser3519=) c.9109-496A>C (n.9109-496A>C) | |
1 | g.152304329T= | CA2479947391 | FLG | c.10557A= (p.Ser3519=) c.9109-496A= (n.9109-496A=) | |
1 | g.152304330G>A | CA1103292 | FLG | c.10556C>T (p.Ser3519Leu) c.9109-497C>T (n.9109-497C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304330G>C | CA30600398 | FLG | c.10556C>G (p.Ser3519Ter) c.9109-497C>G (n.9109-497C>G) | dbSNP gnomAD v4 |
1 | g.152304330G= | CA2479947392 | FLG | c.10556C= (p.Ser3519=) c.9109-497C= (n.9109-497C=) | |
1 | g.152304330G>T | CA342068921 | FLG | c.10556C>A (p.Ser3519Ter) c.9109-497C>A (n.9109-497C>A) | |
1 | g.152304331A>C | CA342068926 | FLG | c.10555T>G (p.Ser3519Ala) c.9109-498T>G (n.9109-498T>G) | |
1 | g.152304331A>G | CA342068928 | FLG | c.10555T>C (p.Ser3519Pro) c.9109-498T>C (n.9109-498T>C) | |
1 | g.152304331A>T | CA342068930 | FLG | c.10555T>A (p.Ser3519Thr) c.9109-498T>A (n.9109-498T>A) | gnomAD v4 |
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 |