| 1 | g.152311117A= | CA2479951197 | FLG | c.3769T= (p.Ser1257=)
| |
| 1 | g.152311117A>C | CA342081188 | FLG | c.3769T>G (p.Ser1257Ala)
| |
| 1 | g.152311117A>G | CA342081191 | FLG | c.3769T>C (p.Ser1257Pro)
| gnomAD v4 |
| 1 | g.152311117A>T | CA342081189 | FLG | c.3769T>A (p.Ser1257Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311118T>A | CA342081194 | FLG | c.3768A>T (p.Gln1256His)
| |
| 1 | g.152311118T>C | CA420930181 | FLG | c.3768A>G (p.Gln1256=)
| |
| 1 | g.152311118T>G | CA342081197 | FLG | c.3768A>C (p.Gln1256His)
| |
| 1 | g.152311119T>A | CA342081201 | FLG | c.3767A>T (p.Gln1256Leu)
| |
| 1 | g.152311119T>C | CA342081203 | FLG | c.3767A>G (p.Gln1256Arg)
| |
| 1 | g.152311119T>G | CA342081206 | FLG | c.3767A>C (p.Gln1256Pro)
| |
| 1 | g.152311120G>A | CA342081214 | FLG | c.3766C>T (p.Gln1256Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.152311120G>C | CA342081211 | FLG | c.3766C>G (p.Gln1256Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311120G= | CA2479951198 | FLG | c.3766C= (p.Gln1256=)
| |
| 1 | g.152311120G>T | CA1106523 | FLG | c.3766C>A (p.Gln1256Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311121T>A | CA342081217 | FLG | c.3765A>T (p.Glu1255Asp)
| |
| 1 | g.152311121T>C | CA1106524 | FLG | c.3765A>G (p.Glu1255=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311121T>G | CA342081220 | FLG | c.3765A>C (p.Glu1255Asp)
| gnomAD v4 |
| 1 | g.152311121T= | CA1142536944 | FLG | c.3765A= (p.Glu1255=)
| |
| 1 | g.152311122T>A | CA342081224 | FLG | c.3764A>T (p.Glu1255Val)
| |
| 1 | g.152311122T>C | CA1106525 | FLG | c.3764A>G (p.Glu1255Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311122T>G | CA342081226 | FLG | c.3764A>C (p.Glu1255Ala)
| |
| 1 | g.152311122T= | CA2479951199 | FLG | c.3764A= (p.Glu1255=)
| |
| 1 | g.152311123C>A | CA342081229 | FLG | c.3763G>T (p.Glu1255Ter)
| gnomAD v4 |
| 1 | g.152311123C= | CA2479951200 | FLG | c.3763G= (p.Glu1255=)
| |
| 1 | g.152311123C>G | CA342081233 | FLG | c.3763G>C (p.Glu1255Gln)
| |
| 1 | g.152311123C>T | CA342081231 | FLG | c.3763G>A (p.Glu1255Lys)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152311124C>A | CA342081236 | FLG | c.3762G>T (p.Gln1254His)
| |
| 1 | g.152311124C= | CA1141625182 | FLG | c.3762G= (p.Gln1254=)
| |
| 1 | g.152311124C>G | CA342081238 | FLG | c.3762G>C (p.Gln1254His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311124C>T | CA1106526 | FLG | c.3762G>A (p.Gln1254=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311125T>A | CA342081241 | FLG | c.3761A>T (p.Gln1254Leu)
| gnomAD v4 |
| 1 | g.152311125T>C | CA342081243 | FLG | c.3761A>G (p.Gln1254Arg)
| |
| 1 | g.152311125T>G | CA342081245 | FLG | c.3761A>C (p.Gln1254Pro)
| |
| 1 | g.152311126G>A | CA342081247 | FLG | c.3760C>T (p.Gln1254Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311126G>C | CA342081249 | FLG | c.3760C>G (p.Gln1254Glu)
| gnomAD v4 |
| 1 | g.152311126G= | CA2479951201 | FLG | c.3760C= (p.Gln1254=)
| |
| 1 | g.152311126G>T | CA342081250 | FLG | c.3760C>A (p.Gln1254Lys)
| gnomAD v4 COSMIC |
| 1 | g.152311127T>A | CA420930193 | FLG | c.3759A>T (p.Gly1253=)
| |
| 1 | g.152311127T>C | CA420930194 | FLG | c.3759A>G (p.Gly1253=)
| |
| 1 | g.152311127T>G | CA1106527 | FLG | c.3759A>C (p.Gly1253=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311127T= | CA2479951202 | FLG | c.3759A= (p.Gly1253=)
| |
| 1 | g.152311128C>A | CA342081252 | FLG | c.3758G>T (p.Gly1253Val)
| gnomAD v4 |
| 1 | g.152311128C= | CA1141686595 | FLG | c.3758G= (p.Gly1253=)
| |
| 1 | g.152311128C>G | CA342081254 | FLG | c.3758G>C (p.Gly1253Ala)
| |
| 1 | g.152311128C>T | CA1106528 | FLG | c.3758G>A (p.Gly1253Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311129C>A | CA1106529 | FLG | c.3757G>T (p.Gly1253Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311129C= | CA1143382078 | FLG | c.3757G= (p.Gly1253=)
| |
| 1 | g.152311129C>G | CA342081257 | FLG | c.3757G>C (p.Gly1253Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311129C>T | CA342081259 | FLG | c.3757G>A (p.Gly1253Arg)
| COSMIC |
| 1 | g.152311130C>A | CA420930201 | FLG | c.3756G>T (p.Val1252=)
| |
| 1 | g.152311130C= | CA2479951203 | FLG | c.3756G= (p.Val1252=)
| |
| 1 | g.152311130C>G | CA420930199 | FLG | c.3756G>C (p.Val1252=)
| dbSNP gnomAD v4 |
| 1 | g.152311130C>T | CA420930200 | FLG | c.3756G>A (p.Val1252=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311131A= | CA2479951204 | FLG | c.3755T= (p.Val1252=)
| |
| 1 | g.152311131A>C | CA342081261 | FLG | c.3755T>G (p.Val1252Gly)
| |
| 1 | g.152311131A>G | CA342081263 | FLG | c.3755T>C (p.Val1252Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311131A>T | CA342081264 | FLG | c.3755T>A (p.Val1252Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311132C>A | CA342081269 | FLG | c.3754G>T (p.Val1252Leu)
| dbSNP gnomAD v4 |
| 1 | g.152311132C= | CA1143383143 | FLG | c.3754G= (p.Val1252=)
| |
| 1 | g.152311132C>G | CA342081267 | FLG | c.3754G>C (p.Val1252Leu)
| |
| 1 | g.152311132C>T | CA30556772 | FLG | c.3754G>A (p.Val1252Met)
| dbSNP gnomAD v4 |
| 1 | g.152311133C>A | CA342081271 | FLG | c.3753G>T (p.Gln1251His)
| |
| 1 | g.152311133C= | CA2479951205 | FLG | c.3753G= (p.Gln1251=)
| |
| 1 | g.152311133C>G | CA342081273 | FLG | c.3753G>C (p.Gln1251His)
| |
| 1 | g.152311133C>T | CA420930203 | FLG | c.3753G>A (p.Gln1251=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311134T>A | CA1106530 | FLG | c.3752A>T (p.Gln1251Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311134T>C | CA342081276 | FLG | c.3752A>G (p.Gln1251Arg)
| COSMIC |
| 1 | g.152311134T>G | CA342081278 | FLG | c.3752A>C (p.Gln1251Pro)
| |
| 1 | g.152311134T= | CA1141966545 | FLG | c.3752A= (p.Gln1251=)
| |
| 1 | g.152311135G>A | CA342081284 | FLG | c.3751C>T (p.Gln1251Ter)
| dbSNP gnomAD v4 |
| 1 | g.152311135G>C | CA342081280 | FLG | c.3751C>G (p.Gln1251Glu)
| |
| 1 | g.152311135G= | CA2479951206 | FLG | c.3751C= (p.Gln1251=)
| |
| 1 | g.152311135G>T | CA342081282 | FLG | c.3751C>A (p.Gln1251Lys)
| COSMIC |
| 1 | g.152311136T>A | CA1106531 | FLG | c.3750A>T (p.Ser1250=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311136T>C | CA420930209 | FLG | c.3750A>G (p.Ser1250=)
| dbSNP |
| 1 | g.152311136T>G | CA420930208 | FLG | c.3750A>C (p.Ser1250=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311136T= | CA2479951207 | FLG | c.3750A= (p.Ser1250=)
| |
| 1 | g.152311137G>A | CA1106532 | FLG | c.3749C>T (p.Ser1250Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311137G>C | CA30556804 | FLG | c.3749C>G (p.Ser1250Ter)
| dbSNP gnomAD v4 |
| 1 | g.152311137G= | CA1143533525 | FLG | c.3749C= (p.Ser1250=)
| |
| 1 | g.152311137G>T | CA342081290 | FLG | c.3749C>A (p.Ser1250Ter)
| gnomAD v4 COSMIC |
| 1 | g.152311138A= | CA1143505007 | FLG | c.3748T= (p.Ser1250=)
| |
| 1 | g.152311138A>C | CA342081292 | FLG | c.3748T>G (p.Ser1250Ala)
| gnomAD v4 |
| 1 | g.152311138A>G | CA30556809 | FLG | c.3748T>C (p.Ser1250Pro)
| dbSNP |
| 1 | g.152311138A>T | CA1106533 | FLG | c.3748T>A (p.Ser1250Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311139G>A | CA420930211 | FLG | c.3747C>T (p.His1249=)
| dbSNP gnomAD v4 |
| 1 | g.152311139G>C | CA342081296 | FLG | c.3747C>G (p.His1249Gln)
| |
| 1 | g.152311139G= | CA1143691633 | FLG | c.3747C= (p.His1249=)
| |
| 1 | g.152311139G>T | CA1106534 | FLG | c.3747C>A (p.His1249Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311140T>A | CA342081300 | FLG | c.3746A>T (p.His1249Leu)
| |
| 1 | g.152311140T>C | CA342081301 | FLG | c.3746A>G (p.His1249Arg)
| |
| 1 | g.152311140T>G | CA342081303 | FLG | c.3746A>C (p.His1249Pro)
| |
| 1 | g.152311141G>A | CA30556839 | FLG | c.3745C>T (p.His1249Tyr)
| dbSNP gnomAD v4 |
| 1 | g.152311141G>C | CA342081308 | FLG | c.3745C>G (p.His1249Asp)
| |
| 1 | g.152311141G= | CA2479951208 | FLG | c.3745C= (p.His1249=)
| |
| 1 | g.152311141G>T | CA342081306 | FLG | c.3745C>A (p.His1249Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311142T>A | CA342081310 | FLG | c.3744A>T (p.Arg1248Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311142T>C | CA1106535 | FLG | c.3744A>G (p.Arg1248=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311142T>G | CA342081313 | FLG | c.3744A>C (p.Arg1248Ser)
| |
| 1 | g.152311142T= | CA1141851015 | FLG | c.3744A= (p.Arg1248=)
| |
| 1 | g.152311143C>A | CA342081315 | FLG | c.3743G>T (p.Arg1248Ile)
| gnomAD v4 |
| 1 | g.152311143C>G | CA342081316 | FLG | c.3743G>C (p.Arg1248Thr)
| gnomAD v4 |
| 1 | g.152311143C>T | CA342081318 | FLG | c.3743G>A (p.Arg1248Lys)
| |
| 1 | g.152311144T>A | CA342081320 | FLG | c.3742A>T (p.Arg1248Ter)
| |
| 1 | g.152311144T>C | CA342081321 | FLG | c.3742A>G (p.Arg1248Gly)
| gnomAD v4 |
| 1 | g.152311144T>G | CA420930219 | FLG | c.3742A>C (p.Arg1248=)
| dbSNP |
| 1 | g.152311144T= | CA2479951209 | FLG | c.3742A= (p.Arg1248=)
| |
| 1 | g.152311145A= | CA2479951210 | FLG | c.3741T= (p.Ser1247=)
| |
| 1 | g.152311145A>C | CA420930220 | FLG | c.3741T>G (p.Ser1247=)
| gnomAD v4 |
| 1 | g.152311145A>G | CA420930221 | FLG | c.3741T>C (p.Ser1247=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311145A>T | CA420930222 | FLG | c.3741T>A (p.Ser1247=)
| gnomAD v4 |
| 1 | g.152311146G>A | CA342081324 | FLG | c.3740C>T (p.Ser1247Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311146G>C | CA342081325 | FLG | c.3740C>G (p.Ser1247Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311146G= | CA2479951211 | FLG | c.3740C= (p.Ser1247=)
| |
| 1 | g.152311146G>T | CA342081327 | FLG | c.3740C>A (p.Ser1247Tyr)
| |
| 1 | g.152311147A= | CA2479951212 | FLG | c.3739T= (p.Ser1247=)
| |
| 1 | g.152311147A>C | CA1106536 | FLG | c.3739T>G (p.Ser1247Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311147A>G | CA30556847 | FLG | c.3739T>C (p.Ser1247Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311147A>T | CA342081330 | FLG | c.3739T>A (p.Ser1247Thr)
| gnomAD v4 |
| 1 | g.152311148G>A | CA420930227 | FLG | c.3738C>T (p.Ser1246=)
| |
| 1 | g.152311148G>C | CA342081334 | FLG | c.3738C>G (p.Ser1246Arg)
| |
| 1 | g.152311148G= | CA2479951213 | FLG | c.3738C= (p.Ser1246=)
| |
| 1 | g.152311148G>T | CA342081335 | FLG | c.3738C>A (p.Ser1246Arg)
| dbSNP gnomAD v4 |
| 1 | g.152311149C>A | CA342081337 | FLG | c.3737G>T (p.Ser1246Ile)
| COSMIC |
| 1 | g.152311149C= | CA2479951214 | FLG | c.3737G= (p.Ser1246=)
| |
| 1 | g.152311149C>G | CA342081339 | FLG | c.3737G>C (p.Ser1246Thr)
| dbSNP gnomAD v4 |
| 1 | g.152311149C>T | CA342081341 | FLG | c.3737G>A (p.Ser1246Asn)
| |
| 1 | g.152311150T>A | CA342081343 | FLG | c.3736A>T (p.Ser1246Cys)
| |
| 1 | g.152311150T>C | CA342081345 | FLG | c.3736A>G (p.Ser1246Gly)
| |
| 1 | g.152311150T>G | CA342081347 | FLG | c.3736A>C (p.Ser1246Arg)
| |
| 1 | g.152311151G>A | CA420930234 | FLG | c.3735C>T (p.Asp1245=)
| |
| 1 | g.152311151G>C | CA342081349 | FLG | c.3735C>G (p.Asp1245Glu)
| |
| 1 | g.152311151G= | CA2479951215 | FLG | c.3735C= (p.Asp1245=)
| |
| 1 | g.152311151G>T | CA342081350 | FLG | c.3735C>A (p.Asp1245Glu)
| dbSNP |
| 1 | g.152311152T>A | CA342081353 | FLG | c.3734A>T (p.Asp1245Val)
| |
| 1 | g.152311152T>C | CA342081354 | FLG | c.3734A>G (p.Asp1245Gly)
| |
| 1 | g.152311152T>G | CA342081356 | FLG | c.3734A>C (p.Asp1245Ala)
| |
| 1 | g.152311152dup | CA526662250 | FLG | c.3734dup (p.Asp1245GlufsTer4)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311153C>A | CA342081359 | FLG | c.3733G>T (p.Asp1245Tyr)
| |
| 1 | g.152311153C>G | CA342081360 | FLG | c.3733G>C (p.Asp1245His)
| gnomAD v4 |
| 1 | g.152311153C>T | CA342081358 | FLG | c.3733G>A (p.Asp1245Asn)
| gnomAD v4 |
| 1 | g.152311154A= | CA2479951216 | FLG | c.3732T= (p.Ala1244=)
| |
| 1 | g.152311154A>C | CA420930241 | FLG | c.3732T>G (p.Ala1244=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311154A>G | CA420930240 | FLG | c.3732T>C (p.Ala1244=)
| |
| 1 | g.152311154A>T | CA420930239 | FLG | c.3732T>A (p.Ala1244=)
| |
| 1 | g.152311155G>A | CA342081363 | FLG | c.3731C>T (p.Ala1244Val)
| dbSNP gnomAD v4 |
| 1 | g.152311155G>C | CA342081364 | FLG | c.3731C>G (p.Ala1244Gly)
| |
| 1 | g.152311155G= | CA2479951217 | FLG | c.3731C= (p.Ala1244=)
| |
| 1 | g.152311155G>T | CA342081366 | FLG | c.3731C>A (p.Ala1244Asp)
| |
| 1 | g.152311156C>A | CA342081368 | FLG | c.3730G>T (p.Ala1244Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311156C= | CA2479951218 | FLG | c.3730G= (p.Ala1244=)
| |
| 1 | g.152311156C>G | CA342081370 | FLG | c.3730G>C (p.Ala1244Pro)
| |
| 1 | g.152311156C>T | CA342081372 | FLG | c.3730G>A (p.Ala1244Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311157C>A | CA342081378 | FLG | c.3729G>T (p.Trp1243Cys)
| |
| 1 | g.152311157C= | CA2479951219 | FLG | c.3729G= (p.Trp1243=)
| |
| 1 | g.152311157C>G | CA342081375 | FLG | c.3729G>C (p.Trp1243Cys)
| |
| 1 | g.152311157C>T | CA342081377 | FLG | c.3729G>A (p.Trp1243Ter)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311158C>A | CA342081381 | FLG | c.3728G>T (p.Trp1243Leu)
| |
| 1 | g.152311158C= | CA2479951220 | FLG | c.3728G= (p.Trp1243=)
| |
| 1 | g.152311158C>G | CA342081382 | FLG | c.3728G>C (p.Trp1243Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311158C>T | CA342081384 | FLG | c.3728G>A (p.Trp1243Ter)
| dbSNP gnomAD v4 |
| 1 | g.152311159A= | CA2479951221 | FLG | c.3727T= (p.Trp1243=)
| |
| 1 | g.152311159A>C | CA342081387 | FLG | c.3727T>G (p.Trp1243Gly)
| |
| 1 | g.152311159A>G | CA342081388 | FLG | c.3727T>C (p.Trp1243Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311159A>T | CA342081389 | FLG | c.3727T>A (p.Trp1243Arg)
| |
| 1 | g.152311160A= | CA2479951223 | FLG | c.3726T= (p.Ser1242=)
| |
| 1 | g.152311160A>C | CA420930247 | FLG | c.3726T>G (p.Ser1242=)
| |
| 1 | g.152311160A>G | CA420930250 | FLG | c.3726T>C (p.Ser1242=)
| dbSNP |
| 1 | g.152311160A>T | CA420930251 | FLG | c.3726T>A (p.Ser1242=)
| |
| 1 | g.152311160_152311161delinsAG | CA2479951222 | FLG | c.3725_3726delinsCT (p.Ser1242=)
| |
| 1 | g.152311161del | CA1106537 | FLG | c.3725del (p.Ser1242PhefsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311161G>A | CA342081390 | FLG | c.3725C>T (p.Ser1242Phe)
| gnomAD v4 |
| 1 | g.152311161G>C | CA342081393 | FLG | c.3725C>G (p.Ser1242Cys)
| |
| 1 | g.152311161G>T | CA342081391 | FLG | c.3725C>A (p.Ser1242Tyr)
| |
| 1 | g.152311162A= | CA2479951224 | FLG | c.3724T= (p.Ser1242=)
| |
| 1 | g.152311162A>C | CA342081395 | FLG | c.3724T>G (p.Ser1242Ala)
| |
| 1 | g.152311162A>G | CA1106538 | FLG | c.3724T>C (p.Ser1242Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311162A>T | CA342081397 | FLG | c.3724T>A (p.Ser1242Thr)
| |
| 1 | g.152311163G>A | CA420930259 | FLG | c.3723C>T (p.Ala1241=)
| gnomAD v4 COSMIC |
| 1 | g.152311163G>C | CA420930260 | FLG | c.3723C>G (p.Ala1241=)
| |
| 1 | g.152311163G>T | CA420930261 | FLG | c.3723C>A (p.Ala1241=)
| |
| 1 | g.152311164G>A | CA342081400 | FLG | c.3722C>T (p.Ala1241Val)
| gnomAD v4 |
| 1 | g.152311164G>C | CA342081402 | FLG | c.3722C>G (p.Ala1241Gly)
| gnomAD v4 |
| 1 | g.152311164G>T | CA342081403 | FLG | c.3722C>A (p.Ala1241Asp)
| |
| 1 | g.152311165C>A | CA1106539 | FLG | c.3721G>T (p.Ala1241Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311165C= | CA2479951225 | FLG | c.3721G= (p.Ala1241=)
| |
| 1 | g.152311165C>G | CA342081406 | FLG | c.3721G>C (p.Ala1241Pro)
| |
| 1 | g.152311165C>T | CA342081408 | FLG | c.3721G>A (p.Ala1241Thr)
| COSMIC |
| 1 | g.152311166A>C | CA420930268 | FLG | c.3720T>G (p.Ala1240=)
| |
| 1 | g.152311166A>G | CA420930269 | FLG | c.3720T>C (p.Ala1240=)
| gnomAD v4 |
| 1 | g.152311166A>T | CA420930270 | FLG | c.3720T>A (p.Ala1240=)
| |
| 1 | g.152311167G>A | CA342081410 | FLG | c.3719C>T (p.Ala1240Val)
| dbSNP |
| 1 | g.152311167G>C | CA342081412 | FLG | c.3719C>G (p.Ala1240Gly)
| |
| 1 | g.152311167G>T | CA342081414 | FLG | c.3719C>A (p.Ala1240Asp)
| |
| 1 | g.152311168C>A | CA342081416 | FLG | c.3718G>T (p.Ala1240Ser)
| gnomAD v4 |
| 1 | g.152311168C= | CA2479951226 | FLG | c.3718G= (p.Ala1240=)
| |
| 1 | g.152311168C>G | CA342081417 | FLG | c.3718G>C (p.Ala1240Pro)
| |
| 1 | g.152311168C>T | CA1106540 | FLG | c.3718G>A (p.Ala1240Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311169T>A | CA342081418 | FLG | c.3717A>T (p.Glu1239Asp)
| |
| 1 | g.152311169T>C | CA420930401 | FLG | c.3717A>G (p.Glu1239=)
| |
| 1 | g.152311169T>G | CA342081419 | FLG | c.3717A>C (p.Glu1239Asp)
| |
| 1 | g.152311170T>A | CA342081421 | FLG | c.3716A>T (p.Glu1239Val)
| |
| 1 | g.152311170T>C | CA342081423 | FLG | c.3716A>G (p.Glu1239Gly)
| |
| 1 | g.152311170T>G | CA1106541 | FLG | c.3716A>C (p.Glu1239Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311170T= | CA1141680547 | FLG | c.3716A= (p.Glu1239=)
| |
| 1 | g.152311171C>A | CA342081426 | FLG | c.3715G>T (p.Glu1239Ter)
| |
| 1 | g.152311171C= | CA2479951227 | FLG | c.3715G= (p.Glu1239=)
| |
| 1 | g.152311171C>G | CA342081428 | FLG | c.3715G>C (p.Glu1239Gln)
| |
| 1 | g.152311171C>T | CA1106542 | FLG | c.3715G>A (p.Glu1239Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311172A= | CA2479951228 | FLG | c.3714T= (p.His1238=)
| |
| 1 | g.152311172A>C | CA342081431 | FLG | c.3714T>G (p.His1238Gln)
| |
| 1 | g.152311172A>G | CA420930402 | FLG | c.3714T>C (p.His1238=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311172A>T | CA342081432 | FLG | c.3714T>A (p.His1238Gln)
| |
| 1 | g.152311173T>A | CA342081433 | FLG | c.3713A>T (p.His1238Leu)
| |
| 1 | g.152311173T>C | CA1106543 | FLG | c.3713A>G (p.His1238Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311173T>G | CA342081434 | FLG | c.3713A>C (p.His1238Pro)
| |
| 1 | g.152311173T= | CA2479951229 | FLG | c.3713A= (p.His1238=)
| |
| 1 | g.152311174G>A | CA342081438 | FLG | c.3712C>T (p.His1238Tyr)
| |
| 1 | g.152311174G>C | CA1106544 | FLG | c.3712C>G (p.His1238Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311174G= | CA2479951230 | FLG | c.3712C= (p.His1238=)
| |
| 1 | g.152311174G>T | CA342081437 | FLG | c.3712C>A (p.His1238Asn)
| |
| 1 | g.152311175G>A | CA1106545 | FLG | c.3711C>T (p.His1237=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311175G>C | CA342081440 | FLG | c.3711C>G (p.His1237Gln)
| |
| 1 | g.152311175G= | CA1143961127 | FLG | c.3711C= (p.His1237=)
| |
| 1 | g.152311175G>T | CA342081441 | FLG | c.3711C>A (p.His1237Gln)
| gnomAD v4 |
| 1 | g.152311176T>A | CA342081442 | FLG | c.3710A>T (p.His1237Leu)
| |
| 1 | g.152311176T>C | CA342081443 | FLG | c.3710A>G (p.His1237Arg)
| COSMIC |
| 1 | g.152311176T>G | CA342081445 | FLG | c.3710A>C (p.His1237Pro)
| dbSNP |
| 1 | g.152311176T= | CA2479951231 | FLG | c.3710A= (p.His1237=)
| |
| 1 | g.152311177G>A | CA342081448 | FLG | c.3709C>T (p.His1237Tyr)
| gnomAD v4 |
| 1 | g.152311177G>C | CA342081449 | FLG | c.3709C>G (p.His1237Asp)
| dbSNP gnomAD v4 |
| 1 | g.152311177G>T | CA342081451 | FLG | c.3709C>A (p.His1237Asn)
| |
| 1 | g.152311178A>C | CA420930404 | FLG | c.3708T>G (p.Arg1236=)
| |
| 1 | g.152311178A>G | CA420930408 | FLG | c.3708T>C (p.Arg1236=)
| gnomAD v4 |
| 1 | g.152311178A>T | CA420930406 | FLG | c.3708T>A (p.Arg1236=)
| |
| 1 | g.152311179del | CA2647993629 | FLG | c.3707del (p.Arg1236LeufsTer?)
| gnomAD v4 |
| 1 | g.152311179C>A | CA342081453 | FLG | c.3707G>T (p.Arg1236Leu)
| |
| 1 | g.152311179C= | CA1143518223 | FLG | c.3707G= (p.Arg1236=)
| |
| 1 | g.152311179C>G | CA342081455 | FLG | c.3707G>C (p.Arg1236Pro)
| |
| 1 | g.152311179C>T | CA1106546 | FLG | c.3707G>A (p.Arg1236His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311180G>A | CA1106547 | FLG | c.3706C>T (p.Arg1236Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311180G>C | CA342081460 | FLG | c.3706C>G (p.Arg1236Gly)
| |
| 1 | g.152311180G= | CA1141976482 | FLG | c.3706C= (p.Arg1236=)
| |
| 1 | g.152311180G>T | CA342081458 | FLG | c.3706C>A (p.Arg1236Ser)
| gnomAD v4 |
| 1 | g.152311181T>A | CA420930409 | FLG | c.3705A>T (p.Ser1235=)
| |
| 1 | g.152311181T>C | CA1106548 | FLG | c.3705A>G (p.Ser1235=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311181T>G | CA420930411 | FLG | c.3705A>C (p.Ser1235=)
| dbSNP gnomAD v2 |
| 1 | g.152311181T= | CA2479951232 | FLG | c.3705A= (p.Ser1235=)
| |
| 1 | g.152311182G>A | CA342081463 | FLG | c.3704C>T (p.Ser1235Leu)
| |
| 1 | g.152311182G>C | CA342081464 | FLG | c.3704C>G (p.Ser1235Ter)
| |
| 1 | g.152311182G>T | CA342081465 | FLG | c.3704C>A (p.Ser1235Ter)
| |
| 1 | g.152311183A>C | CA342081466 | FLG | c.3703T>G (p.Ser1235Ala)
| |
| 1 | g.152311183A>G | CA342081467 | FLG | c.3703T>C (p.Ser1235Pro)
| |
| 1 | g.152311183A>T | CA342081468 | FLG | c.3703T>A (p.Ser1235Thr)
| |
| 1 | g.152311183_152311184delinsAC | CA2479951233 | FLG | c.3702_3703delinsGT (p.Gly1234=)
| |
| 1 | g.152311184C>A | CA1106550 | FLG | c.3702G>T (p.Gly1234=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311184C= | CA2479951234 | FLG | c.3702G= (p.Gly1234=)
| |
| 1 | g.152311184C>G | CA420930414 | FLG | c.3702G>C (p.Gly1234=)
| |
| 1 | g.152311184C>T | CA420930413 | FLG | c.3702G>A (p.Gly1234=)
| gnomAD v4 |
| 1 | g.152311184_152311186delinsCCC | CA1144228977 | FLG | c.3700_3702delinsGGG (p.Gly1234=)
| |
| 1 | g.152311186del | CA1106549 | FLG | c.3702del (p.Ser1235HisfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311185C>A | CA342081469 | FLG | c.3701G>T (p.Gly1234Val)
| dbSNP gnomAD v4 |
| 1 | g.152311185C= | CA1148269489 | FLG | c.3701G= (p.Gly1234=)
| |
| 1 | g.152311185C>G | CA342081470 | FLG | c.3701G>C (p.Gly1234Ala)
| |
| 1 | g.152311185C>T | CA1106551 | FLG | c.3701G>A (p.Gly1234Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311186C>A | CA342081471 | FLG | c.3700G>T (p.Gly1234Trp)
| |
| 1 | g.152311186C= | CA2479951235 | FLG | c.3700G= (p.Gly1234=)
| |
| 1 | g.152311186C>G | CA342081472 | FLG | c.3700G>C (p.Gly1234Arg)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311186C>T | CA1106552 | FLG | c.3700G>A (p.Gly1234Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311187T>A | CA420930418 | FLG | c.3699A>T (p.Ser1233=)
| |
| 1 | g.152311187T>C | CA420930421 | FLG | c.3699A>G (p.Ser1233=)
| gnomAD v4 |
| 1 | g.152311187T>G | CA420930420 | FLG | c.3699A>C (p.Ser1233=)
| |
| 1 | g.152311188G>A | CA342081473 | FLG | c.3698C>T (p.Ser1233Leu)
| dbSNP |
| 1 | g.152311188G>C | CA342081476 | FLG | c.3698C>G (p.Ser1233Ter)
| gnomAD v4 |
| 1 | g.152311188G= | CA2479951236 | FLG | c.3698C= (p.Ser1233=)
| |
| 1 | g.152311188G>T | CA342081474 | FLG | c.3698C>A (p.Ser1233Ter)
| gnomAD v4 |
| 1 | g.152311189A= | CA2479951237 | FLG | c.3697T= (p.Ser1233=)
| |
| 1 | g.152311189A>C | CA1106553 | FLG | c.3697T>G (p.Ser1233Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311189A>G | CA342081479 | FLG | c.3697T>C (p.Ser1233Pro)
| |
| 1 | g.152311189A>T | CA342081481 | FLG | c.3697T>A (p.Ser1233Thr)
| gnomAD v4 |
| 1 | g.152311190G>A | CA30556945 | FLG | c.3696C>T (p.His1232=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311190G>C | CA342081484 | FLG | c.3696C>G (p.His1232Gln)
| |
| 1 | g.152311190G= | CA1143449212 | FLG | c.3696C= (p.His1232=)
| |
| 1 | g.152311190G>T | CA342081485 | FLG | c.3696C>A (p.His1232Gln)
| |
| 1 | g.152311191T>A | CA342081489 | FLG | c.3695A>T (p.His1232Leu)
| |
| 1 | g.152311191T>C | CA342081490 | FLG | c.3695A>G (p.His1232Arg)
| |
| 1 | g.152311191T>G | CA342081492 | FLG | c.3695A>C (p.His1232Pro)
| |
| 1 | g.152311192G>A | CA342081494 | FLG | c.3694C>T (p.His1232Tyr)
| dbSNP |
| 1 | g.152311192G>C | CA342081496 | FLG | c.3694C>G (p.His1232Asp)
| |
| 1 | g.152311192G= | CA1148714072 | FLG | c.3694C= (p.His1232=)
| |
| 1 | g.152311192G>T | CA1106554 | FLG | c.3694C>A (p.His1232Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311193C>A | CA342081500 | FLG | c.3693G>T (p.Arg1231Ser)
| |
| 1 | g.152311193C= | CA1143385860 | FLG | c.3693G= (p.Arg1231=)
| |
| 1 | g.152311193C>G | CA342081504 | FLG | c.3693G>C (p.Arg1231Ser)
| |
| 1 | g.152311193C>T | CA1106555 | FLG | c.3693G>A (p.Arg1231=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311194C>A | CA1106556 | FLG | c.3692G>T (p.Arg1231Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311194C= | CA1141264572 | FLG | c.3692G= (p.Arg1231=)
| |
| 1 | g.152311194C>G | CA342081509 | FLG | c.3692G>C (p.Arg1231Thr)
| |
| 1 | g.152311194C>T | CA342081510 | FLG | c.3692G>A (p.Arg1231Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311195T>A | CA342081513 | FLG | c.3691A>T (p.Arg1231Trp)
| |
| 1 | g.152311195T>C | CA342081516 | FLG | c.3691A>G (p.Arg1231Gly)
| |
| 1 | g.152311195T>G | CA420930424 | FLG | c.3691A>C (p.Arg1231=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311195T= | CA2479951238 | FLG | c.3691A= (p.Arg1231=)
| |
| 1 | g.152311196G>A | CA30556955 | FLG | c.3690C>T (p.Ser1230=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311196G>C | CA420930426 | FLG | c.3690C>G (p.Ser1230=)
| |
| 1 | g.152311196G= | CA2479951239 | FLG | c.3690C= (p.Ser1230=)
| |
| 1 | g.152311196G>T | CA420930428 | FLG | c.3690C>A (p.Ser1230=)
| |
| 1 | g.152311197G>A | CA342081522 | FLG | c.3689C>T (p.Ser1230Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311197G>C | CA342081520 | FLG | c.3689C>G (p.Ser1230Cys)
| |
| 1 | g.152311197G= | CA2479951240 | FLG | c.3689C= (p.Ser1230=)
| |
| 1 | g.152311197G>T | CA342081518 | FLG | c.3689C>A (p.Ser1230Tyr)
| |
| 1 | g.152311198A= | CA1143884409 | FLG | c.3688T= (p.Ser1230=)
| |
| 1 | g.152311198A>C | CA342081525 | FLG | c.3688T>G (p.Ser1230Ala)
| |
| 1 | g.152311198A>G | CA342081527 | FLG | c.3688T>C (p.Ser1230Pro)
| |
| 1 | g.152311198A>T | CA1106557 | FLG | c.3688T>A (p.Ser1230Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311199G>A | CA420930431 | FLG | c.3687C>T (p.Gly1229=)
| gnomAD v4 |
| 1 | g.152311199G>C | CA420930433 | FLG | c.3687C>G (p.Gly1229=)
| |
| 1 | g.152311199G>T | CA420930432 | FLG | c.3687C>A (p.Gly1229=)
| |
| 1 | g.152311200C>A | CA342081533 | FLG | c.3686G>T (p.Gly1229Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311200C= | CA2479951241 | FLG | c.3686G= (p.Gly1229=)
| |
| 1 | g.152311200C>G | CA342081534 | FLG | c.3686G>C (p.Gly1229Ala)
| |
| 1 | g.152311200C>T | CA342081535 | FLG | c.3686G>A (p.Gly1229Asp)
| dbSNP |
| 1 | g.152311201C>A | CA342081536 | FLG | c.3685G>T (p.Gly1229Cys)
| |
| 1 | g.152311201C= | CA1144199415 | FLG | c.3685G= (p.Gly1229=)
| |
| 1 | g.152311201C>G | CA342081537 | FLG | c.3685G>C (p.Gly1229Arg)
| dbSNP gnomAD v4 |
| 1 | g.152311201C>T | CA1106558 | FLG | c.3685G>A (p.Gly1229Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311202G>A | CA1106559 | FLG | c.3684C>T (p.Asp1228=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311202G>C | CA342081538 | FLG | c.3684C>G (p.Asp1228Glu)
| gnomAD v4 |
| 1 | g.152311202G= | CA1143749738 | FLG | c.3684C= (p.Asp1228=)
| |
| 1 | g.152311202G>T | CA342081539 | FLG | c.3684C>A (p.Asp1228Glu)
| |
| 1 | g.152311203T>A | CA342081540 | FLG | c.3683A>T (p.Asp1228Val)
| |
| 1 | g.152311203T>C | CA342081541 | FLG | c.3683A>G (p.Asp1228Gly)
| |
| 1 | g.152311203T>G | CA342081542 | FLG | c.3683A>C (p.Asp1228Ala)
| |
| 1 | g.152311204C>A | CA342081543 | FLG | c.3682G>T (p.Asp1228Tyr)
| |
| 1 | g.152311204C= | CA2479951242 | FLG | c.3682G= (p.Asp1228=)
| |
| 1 | g.152311204C>G | CA342081544 | FLG | c.3682G>C (p.Asp1228His)
| gnomAD v4 |
| 1 | g.152311204C>T | CA342081545 | FLG | c.3682G>A (p.Asp1228Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311205T>A | CA1106560 | FLG | c.3681A>T (p.Gly1227=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311205T>C | CA420930434 | FLG | c.3681A>G (p.Gly1227=)
| gnomAD v4 |
| 1 | g.152311205T>G | CA420930435 | FLG | c.3681A>C (p.Gly1227=)
| |
| 1 | g.152311205T= | CA1142076742 | FLG | c.3681A= (p.Gly1227=)
| |
| 1 | g.152311206C>A | CA1106561 | FLG | c.3680G>T (p.Gly1227Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311206C= | CA2479951243 | FLG | c.3680G= (p.Gly1227=)
| |
| 1 | g.152311206C>G | CA342081546 | FLG | c.3680G>C (p.Gly1227Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311206C>T | CA1106562 | FLG | c.3680G>A (p.Gly1227Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311207C>A | CA342081547 | FLG | c.3679G>T (p.Gly1227Ter)
| |
| 1 | g.152311207C= | CA2479951244 | FLG | c.3679G= (p.Gly1227=)
| |
| 1 | g.152311207C>G | CA342081548 | FLG | c.3679G>C (p.Gly1227Arg)
| gnomAD v4 |
| 1 | g.152311207C>T | CA1106563 | FLG | c.3679G>A (p.Gly1227Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311208T>A | CA420930436 | FLG | c.3678A>T (p.Ser1226=)
| |
| 1 | g.152311208T>C | CA420930437 | FLG | c.3678A>G (p.Ser1226=)
| |
| 1 | g.152311208T>G | CA1106564 | FLG | c.3678A>C (p.Ser1226=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311208T= | CA2479951245 | FLG | c.3678A= (p.Ser1226=)
| |
| 1 | g.152311209G>A | CA342081550 | FLG | c.3677C>T (p.Ser1226Leu)
| gnomAD v4 |
| 1 | g.152311209G>C | CA342081549 | FLG | c.3677C>G (p.Ser1226Ter)
| |
| 1 | g.152311209G= | CA2479951246 | FLG | c.3677C= (p.Ser1226=)
| |
| 1 | g.152311209G>T | CA30557009 | FLG | c.3677C>A (p.Ser1226Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311210A= | CA2479951248 | FLG | c.3676T= (p.Ser1226=)
| |
| 1 | g.152311210A>C | CA342081551 | FLG | c.3676T>G (p.Ser1226Ala)
| |
| 1 | g.152311210A>G | CA342081553 | FLG | c.3676T>C (p.Ser1226Pro)
| |
| 1 | g.152311210A>T | CA342081552 | FLG | c.3676T>A (p.Ser1226Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311210_152311214delinsATTGT | CA2479951247 | FLG | c.3672_3676delinsACAAT (p.Lys1224=)
| |
| 1 | g.152311211T>A | CA342081554 | FLG | c.3675A>T (p.Gln1225His)
| |
| 1 | g.152311211T>C | CA1106566 | FLG | c.3675A>G (p.Gln1225=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311211T>G | CA342081555 | FLG | c.3675A>C (p.Gln1225His)
| dbSNP gnomAD v4 |
| 1 | g.152311211T= | CA2479951249 | FLG | c.3675A= (p.Gln1225=)
| |
| 1 | g.152311215_152311218del | CA1106565 | FLG | c.3672_3675del (p.Lys1224AsnfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311212T>A | CA342081556 | FLG | c.3674A>T (p.Gln1225Leu)
| |
| 1 | g.152311212T>C | CA342081557 | FLG | c.3674A>G (p.Gln1225Arg)
| |
| 1 | g.152311212T>G | CA342081558 | FLG | c.3674A>C (p.Gln1225Pro)
| |
| 1 | g.152311212_152311213delinsTG | CA2479951250 | FLG | c.3673_3674delinsCA (p.Gln1225=)
| |
| 1 | g.152311213del | CA1106567 | FLG | c.3673del (p.Gln1225AsnfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311213G>A | CA342081559 | FLG | c.3673C>T (p.Gln1225Ter)
| |
| 1 | g.152311213G>C | CA342081560 | FLG | c.3673C>G (p.Gln1225Glu)
| gnomAD v4 |
| 1 | g.152311213G= | CA2479951251 | FLG | c.3673C= (p.Gln1225=)
| |
| 1 | g.152311213G>T | CA1106568 | FLG | c.3673C>A (p.Gln1225Lys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152311214T>A | CA342081561 | FLG | c.3672A>T (p.Lys1224Asn)
| |
| 1 | g.152311214T>C | CA420930442 | FLG | c.3672A>G (p.Lys1224=)
| gnomAD v4 |
| 1 | g.152311214T>G | CA342081562 | FLG | c.3672A>C (p.Lys1224Asn)
| |
| 1 | g.152311216del | CA342081563 | FLG | c.3672del (p.Lys1224AsnfsTer?)
| |
| 1 | g.152311215T>A | CA342081564 | FLG | c.3671A>T (p.Lys1224Ile)
| |
| 1 | g.152311215T>C | CA1106569 | FLG | c.3671A>G (p.Lys1224Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311215T>G | CA342081565 | FLG | c.3671A>C (p.Lys1224Thr)
| |
| 1 | g.152311215T= | CA2479951252 | FLG | c.3671A= (p.Lys1224=)
| |
| 1 | g.152311216_152311218del | CA2746127706 | FLG | c.3669_3671del (p.Asp1223_Lys1224delinsGlu)
| |
| 1 | g.152311216T>A | CA342081566 | FLG | c.3670A>T (p.Lys1224Ter)
| dbSNP |
| 1 | g.152311216T>C | CA1106570 | FLG | c.3670A>G (p.Lys1224Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311216T>G | CA342081567 | FLG | c.3670A>C (p.Lys1224Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311216T= | CA2479951253 | FLG | c.3670A= (p.Lys1224=)
| |
| 1 | g.152311217G>A | CA420930445 | FLG | c.3669C>T (p.Asp1223=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311217G>C | CA1106571 | FLG | c.3669C>G (p.Asp1223Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311217G= | CA2479951254 | FLG | c.3669C= (p.Asp1223=)
| |
| 1 | g.152311217G>T | CA342081568 | FLG | c.3669C>A (p.Asp1223Glu)
| dbSNP gnomAD v4 |
