| 1 | g.152307662_152307760del | CA1104841 | FLG | c.7127_7225del (p.Glu2376_Ser2408del)
| ExAC |
| 1 | g.152307725_152307756del | CA2746124081 | FLG | c.7130_7161del (p.Asp2377AlafsTer?)
| |
| 1 | g.152307756T>A | CA342049230 | FLG | c.7130A>T (p.Asp2377Val)
| |
| 1 | g.152307756T>C | CA342049231 | FLG | c.7130A>G (p.Asp2377Gly)
| gnomAD v4 |
| 1 | g.152307756T>G | CA342049232 | FLG | c.7130A>C (p.Asp2377Ala)
| |
| 1 | g.152307757C>A | CA342049233 | FLG | c.7129G>T (p.Asp2377Tyr)
| gnomAD v4 |
| 1 | g.152307757C= | CA1142122422 | FLG | c.7129G= (p.Asp2377=)
| |
| 1 | g.152307757C>G | CA342049234 | FLG | c.7129G>C (p.Asp2377His)
| gnomAD v4 |
| 1 | g.152307757C>T | CA1104887 | FLG | c.7129G>A (p.Asp2377Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307758T>A | CA342049236 | FLG | c.7128A>T (p.Glu2376Asp)
| |
| 1 | g.152307758T>C | CA420928293 | FLG | c.7128A>G (p.Glu2376=)
| gnomAD v4 |
| 1 | g.152307758T>G | CA342049235 | FLG | c.7128A>C (p.Glu2376Asp)
| |
| 1 | g.152307759T>A | CA342049237 | FLG | c.7127A>T (p.Glu2376Val)
| |
| 1 | g.152307759T>C | CA342049238 | FLG | c.7127A>G (p.Glu2376Gly)
| |
| 1 | g.152307759T>G | CA1104888 | FLG | c.7127A>C (p.Glu2376Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307759T= | CA2479949306 | FLG | c.7127A= (p.Glu2376=)
| |
| 1 | g.152307760C>A | CA342049239 | FLG | c.7126G>T (p.Glu2376Ter)
| dbSNP |
| 1 | g.152307760C= | CA1143707525 | FLG | c.7126G= (p.Glu2376=)
| |
| 1 | g.152307760C>G | CA342049240 | FLG | c.7126G>C (p.Glu2376Gln)
| dbSNP gnomAD v4 |
| 1 | g.152307760C>T | CA1104889 | FLG | c.7126G>A (p.Glu2376Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307761T>A | CA420928301 | FLG | c.7125A>T (p.Ser2375=)
| |
| 1 | g.152307761T>C | CA420928303 | FLG | c.7125A>G (p.Ser2375=)
| |
| 1 | g.152307761T>G | CA420928299 | FLG | c.7125A>C (p.Ser2375=)
| |
| 1 | g.152307762G>A | CA342049243 | FLG | c.7124C>T (p.Ser2375Leu)
| |
| 1 | g.152307762G>C | CA342049242 | FLG | c.7124C>G (p.Ser2375Ter)
| |
| 1 | g.152307762G>T | CA342049241 | FLG | c.7124C>A (p.Ser2375Ter)
| |
| 1 | g.152307763A>C | CA342049244 | FLG | c.7123T>G (p.Ser2375Ala)
| |
| 1 | g.152307763A>G | CA342049246 | FLG | c.7123T>C (p.Ser2375Pro)
| gnomAD v4 |
| 1 | g.152307763A>T | CA342049245 | FLG | c.7123T>A (p.Ser2375Thr)
| |
| 1 | g.152307764A= | CA2479949307 | FLG | c.7122T= (p.His2374=)
| |
| 1 | g.152307764A>C | CA342049247 | FLG | c.7122T>G (p.His2374Gln)
| |
| 1 | g.152307764A>G | CA1104890 | FLG | c.7122T>C (p.His2374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307764A>T | CA342049248 | FLG | c.7122T>A (p.His2374Gln)
| |
| 1 | g.152307765T>A | CA342049249 | FLG | c.7121A>T (p.His2374Leu)
| |
| 1 | g.152307765T>C | CA342049251 | FLG | c.7121A>G (p.His2374Arg)
| |
| 1 | g.152307765T>G | CA342049250 | FLG | c.7121A>C (p.His2374Pro)
| |
| 1 | g.152307766G>A | CA1104891 | FLG | c.7120C>T (p.His2374Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307766G>C | CA342049252 | FLG | c.7120C>G (p.His2374Asp)
| |
| 1 | g.152307766G= | CA1143451100 | FLG | c.7120C= (p.His2374=)
| |
| 1 | g.152307766G>T | CA342049253 | FLG | c.7120C>A (p.His2374Asn)
| gnomAD v4 |
| 1 | g.152307767T>A | CA420928314 | FLG | c.7119A>T (p.Gly2373=)
| |
| 1 | g.152307767T>C | CA420928315 | FLG | c.7119A>G (p.Gly2373=)
| |
| 1 | g.152307767T>G | CA420928316 | FLG | c.7119A>C (p.Gly2373=)
| |
| 1 | g.152307768C>A | CA342049254 | FLG | c.7118G>T (p.Gly2373Val)
| |
| 1 | g.152307768C>G | CA342049255 | FLG | c.7118G>C (p.Gly2373Ala)
| |
| 1 | g.152307768C>T | CA342049256 | FLG | c.7118G>A (p.Gly2373Glu)
| |
| 1 | g.152307769C>A | CA1104892 | FLG | c.7117G>T (p.Gly2373Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307769C= | CA1146559830 | FLG | c.7117G= (p.Gly2373=)
| |
| 1 | g.152307769C>G | CA342049257 | FLG | c.7117G>C (p.Gly2373Arg)
| |
| 1 | g.152307769C>T | CA342049258 | FLG | c.7117G>A (p.Gly2373Arg)
| dbSNP gnomAD v4 |
| 1 | g.152307769_152307773delinsCCTCA | CA2479949308 | FLG | c.7113_7117delinsTGAGG (p.Ser2371=)
| |
| 1 | g.152307770C>A | CA342049260 | FLG | c.7116G>T (p.Glu2372Asp)
| |
| 1 | g.152307770C= | CA2479949309 | FLG | c.7116G= (p.Glu2372=)
| |
| 1 | g.152307770C>G | CA342049259 | FLG | c.7116G>C (p.Glu2372Asp)
| |
| 1 | g.152307770C>T | CA420928326 | FLG | c.7116G>A (p.Glu2372=)
| dbSNP gnomAD v4 |
| 1 | g.152307772_152307775del | CA1104893 | FLG | c.7113_7116del (p.Ser2371ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307771T>A | CA342049261 | FLG | c.7115A>T (p.Glu2372Val)
| |
| 1 | g.152307771T>C | CA342049262 | FLG | c.7115A>G (p.Glu2372Gly)
| gnomAD v4 |
| 1 | g.152307771T>G | CA342049263 | FLG | c.7115A>C (p.Glu2372Ala)
| |
| 1 | g.152307772C>A | CA342049264 | FLG | c.7114G>T (p.Glu2372Ter)
| |
| 1 | g.152307772C>G | CA342049265 | FLG | c.7114G>C (p.Glu2372Gln)
| |
| 1 | g.152307772C>T | CA342049266 | FLG | c.7114G>A (p.Glu2372Lys)
| gnomAD v4 |
| 1 | g.152307773A= | CA2479949310 | FLG | c.7113T= (p.Ser2371=)
| |
| 1 | g.152307773A>C | CA342049267 | FLG | c.7113T>G (p.Ser2371Arg)
| |
| 1 | g.152307773A>G | CA420928328 | FLG | c.7113T>C (p.Ser2371=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307773A>T | CA342049268 | FLG | c.7113T>A (p.Ser2371Arg)
| |
| 1 | g.152307774C>A | CA342049269 | FLG | c.7112G>T (p.Ser2371Ile)
| |
| 1 | g.152307774C= | CA2479949311 | FLG | c.7112G= (p.Ser2371=)
| |
| 1 | g.152307774C>G | CA342049270 | FLG | c.7112G>C (p.Ser2371Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307774C>T | CA1104894 | FLG | c.7112G>A (p.Ser2371Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307775T>A | CA342049272 | FLG | c.7111A>T (p.Ser2371Cys)
| gnomAD v4 |
| 1 | g.152307775T>C | CA342049273 | FLG | c.7111A>G (p.Ser2371Gly)
| |
| 1 | g.152307775T>G | CA342049271 | FLG | c.7111A>C (p.Ser2371Arg)
| |
| 1 | g.152307776G>A | CA1104895 | FLG | c.7110C>T (p.Asp2370=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307776G>C | CA342049274 | FLG | c.7110C>G (p.Asp2370Glu)
| |
| 1 | g.152307776G= | CA1144071087 | FLG | c.7110C= (p.Asp2370=)
| |
| 1 | g.152307776G>T | CA342049275 | FLG | c.7110C>A (p.Asp2370Glu)
| |
| 1 | g.152307777T>A | CA342049276 | FLG | c.7109A>T (p.Asp2370Val)
| |
| 1 | g.152307777T>C | CA342049277 | FLG | c.7109A>G (p.Asp2370Gly)
| |
| 1 | g.152307777T>G | CA342049278 | FLG | c.7109A>C (p.Asp2370Ala)
| |
| 1 | g.152307778C>A | CA342049279 | FLG | c.7108G>T (p.Asp2370Tyr)
| |
| 1 | g.152307778C= | CA2479949312 | FLG | c.7108G= (p.Asp2370=)
| |
| 1 | g.152307778C>G | CA342049280 | FLG | c.7108G>C (p.Asp2370His)
| |
| 1 | g.152307778C>T | CA342049281 | FLG | c.7108G>A (p.Asp2370Asn)
| dbSNP gnomAD v4 |
| 1 | g.152307779A>C | CA342049282 | FLG | c.7107T>G (p.Ser2369Arg)
| gnomAD v4 |
| 1 | g.152307779A>G | CA420928343 | FLG | c.7107T>C (p.Ser2369=)
| |
| 1 | g.152307779A>T | CA342049283 | FLG | c.7107T>A (p.Ser2369Arg)
| |
| 1 | g.152307780C>A | CA342049285 | FLG | c.7106G>T (p.Ser2369Ile)
| |
| 1 | g.152307780C= | CA1148228655 | FLG | c.7106G= (p.Ser2369=)
| |
| 1 | g.152307780C>G | CA1104896 | FLG | c.7106G>C (p.Ser2369Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307780C>T | CA342049284 | FLG | c.7106G>A (p.Ser2369Asn)
| |
| 1 | g.152307781T>A | CA342049286 | FLG | c.7105A>T (p.Ser2369Cys)
| |
| 1 | g.152307781T>C | CA342049287 | FLG | c.7105A>G (p.Ser2369Gly)
| |
| 1 | g.152307781T>G | CA342049288 | FLG | c.7105A>C (p.Ser2369Arg)
| |
| 1 | g.152307782G>A | CA420928356 | FLG | c.7104C>T (p.Ala2368=)
| |
| 1 | g.152307782G>C | CA420928354 | FLG | c.7104C>G (p.Ala2368=)
| |
| 1 | g.152307782G= | CA2479949313 | FLG | c.7104C= (p.Ala2368=)
| |
| 1 | g.152307782G>T | CA420928355 | FLG | c.7104C>A (p.Ala2368=)
| dbSNP |
| 1 | g.152307783G>A | CA342049289 | FLG | c.7103C>T (p.Ala2368Val)
| dbSNP gnomAD v4 |
| 1 | g.152307783G>C | CA342049290 | FLG | c.7103C>G (p.Ala2368Gly)
| |
| 1 | g.152307783G= | CA2479949314 | FLG | c.7103C= (p.Ala2368=)
| |
| 1 | g.152307783G>T | CA342049291 | FLG | c.7103C>A (p.Ala2368Asp)
| |
| 1 | g.152307784C>A | CA342049292 | FLG | c.7102G>T (p.Ala2368Ser)
| dbSNP gnomAD v4 |
| 1 | g.152307784C= | CA1144164930 | FLG | c.7102G= (p.Ala2368=)
| |
| 1 | g.152307784C>G | CA342049293 | FLG | c.7102G>C (p.Ala2368Pro)
| |
| 1 | g.152307784C>T | CA30549147 | FLG | c.7102G>A (p.Ala2368Thr)
| dbSNP gnomAD v4 |
| 1 | g.152307785del | CA2647993486 | FLG | c.7102del (p.Ala2368ProfsTer?)
| gnomAD v4 |
| 1 | g.152307784_152307788delinsCCTGA | CA2479949315 | FLG | c.7098_7102delinsTCAGG (p.Ser2366=)
| |
| 1 | g.152307785C>A | CA342049294 | FLG | c.7101G>T (p.Gln2367His)
| |
| 1 | g.152307785C= | CA2479949316 | FLG | c.7101G= (p.Gln2367=)
| |
| 1 | g.152307785C>G | CA1104898 | FLG | c.7101G>C (p.Gln2367His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307785C>T | CA420928369 | FLG | c.7101G>A (p.Gln2367=)
| |
| 1 | g.152307787_152307790del | CA1104897 | FLG | c.7098_7101del (p.Ser2366ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307786T>A | CA342049296 | FLG | c.7100A>T (p.Gln2367Leu)
| |
| 1 | g.152307786T>C | CA342049297 | FLG | c.7100A>G (p.Gln2367Arg)
| |
| 1 | g.152307786T>G | CA342049295 | FLG | c.7100A>C (p.Gln2367Pro)
| gnomAD v4 |
| 1 | g.152307787G>A | CA342049300 | FLG | c.7099C>T (p.Gln2367Ter)
| |
| 1 | g.152307787G>C | CA342049298 | FLG | c.7099C>G (p.Gln2367Glu)
| |
| 1 | g.152307787G>T | CA342049299 | FLG | c.7099C>A (p.Gln2367Lys)
| gnomAD v4 |
| 1 | g.152307788A= | CA2479949317 | FLG | c.7098T= (p.Ser2366=)
| |
| 1 | g.152307788A>C | CA342049301 | FLG | c.7098T>G (p.Ser2366Arg)
| |
| 1 | g.152307788A>G | CA420928375 | FLG | c.7098T>C (p.Ser2366=)
| dbSNP |
| 1 | g.152307788A>T | CA1104899 | FLG | c.7098T>A (p.Ser2366Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307789C>A | CA342049302 | FLG | c.7097G>T (p.Ser2366Ile)
| |
| 1 | g.152307789C= | CA1140788910 | FLG | c.7097G= (p.Ser2366=)
| |
| 1 | g.152307789C>G | CA1104900 | FLG | c.7097G>C (p.Ser2366Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307789C>T | CA342049303 | FLG | c.7097G>A (p.Ser2366Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307790T>A | CA342049304 | FLG | c.7096A>T (p.Ser2366Cys)
| |
| 1 | g.152307790T>C | CA342049305 | FLG | c.7096A>G (p.Ser2366Gly)
| |
| 1 | g.152307790T>G | CA342049306 | FLG | c.7096A>C (p.Ser2366Arg)
| |
| 1 | g.152307791A= | CA2479949318 | FLG | c.7095T= (p.Gly2365=)
| |
| 1 | g.152307791A>C | CA420928379 | FLG | c.7095T>G (p.Gly2365=)
| |
| 1 | g.152307791A>G | CA1104901 | FLG | c.7095T>C (p.Gly2365=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307791A>T | CA420928378 | FLG | c.7095T>A (p.Gly2365=)
| gnomAD v4 |
| 1 | g.152307792C>A | CA342049309 | FLG | c.7094G>T (p.Gly2365Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307792C= | CA2479949319 | FLG | c.7094G= (p.Gly2365=)
| |
| 1 | g.152307792C>G | CA342049307 | FLG | c.7094G>C (p.Gly2365Ala)
| |
| 1 | g.152307792C>T | CA342049308 | FLG | c.7094G>A (p.Gly2365Asp)
| gnomAD v4 |
| 1 | g.152307793C>A | CA342049310 | FLG | c.7093G>T (p.Gly2365Cys)
| |
| 1 | g.152307793C= | CA2479949320 | FLG | c.7093G= (p.Gly2365=)
| |
| 1 | g.152307793C>G | CA342049311 | FLG | c.7093G>C (p.Gly2365Arg)
| |
| 1 | g.152307793C>T | CA342049312 | FLG | c.7093G>A (p.Gly2365Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307794A= | CA1145193247 | FLG | c.7092T= (p.Ser2364=)
| |
| 1 | g.152307794A>C | CA1104902 | FLG | c.7092T>G (p.Ser2364Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307794A>G | CA420928382 | FLG | c.7092T>C (p.Ser2364=)
| |
| 1 | g.152307794A>T | CA1104903 | FLG | c.7092T>A (p.Ser2364Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307795C>A | CA1104904 | FLG | c.7091G>T (p.Ser2364Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307795C= | CA2479949321 | FLG | c.7091G= (p.Ser2364=)
| |
| 1 | g.152307795C>G | CA342049313 | FLG | c.7091G>C (p.Ser2364Thr)
| gnomAD v4 |
| 1 | g.152307795C>T | CA342049314 | FLG | c.7091G>A (p.Ser2364Asn)
| gnomAD v4 |
| 1 | g.152307796T>A | CA342049315 | FLG | c.7090A>T (p.Ser2364Cys)
| |
| 1 | g.152307796T>C | CA342049316 | FLG | c.7090A>G (p.Ser2364Gly)
| |
| 1 | g.152307796T>G | CA342049317 | FLG | c.7090A>C (p.Ser2364Arg)
| |
| 1 | g.152307797G>A | CA420928388 | FLG | c.7089C>T (p.Ser2363=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307797G>C | CA420928390 | FLG | c.7089C>G (p.Ser2363=)
| |
| 1 | g.152307797G= | CA2479949322 | FLG | c.7089C= (p.Ser2363=)
| |
| 1 | g.152307797G>T | CA420928389 | FLG | c.7089C>A (p.Ser2363=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307798G>A | CA342049318 | FLG | c.7088C>T (p.Ser2363Phe)
| gnomAD v4 |
| 1 | g.152307798G>C | CA1104906 | FLG | c.7088C>G (p.Ser2363Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307798G= | CA1142415212 | FLG | c.7088C= (p.Ser2363=)
| |
| 1 | g.152307798G>T | CA1104905 | FLG | c.7088C>A (p.Ser2363Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307799A= | CA2479949323 | FLG | c.7087T= (p.Ser2363=)
| |
| 1 | g.152307799A>C | CA342049319 | FLG | c.7087T>G (p.Ser2363Ala)
| dbSNP |
| 1 | g.152307799A>G | CA342049320 | FLG | c.7087T>C (p.Ser2363Pro)
| gnomAD v4 |
| 1 | g.152307799A>T | CA342049321 | FLG | c.7087T>A (p.Ser2363Thr)
| |
| 1 | g.152307800C>A | CA1104907 | FLG | c.7086G>T (p.Gly2362=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307800C= | CA2479949324 | FLG | c.7086G= (p.Gly2362=)
| |
| 1 | g.152307800C>G | CA1104909 | FLG | c.7086G>C (p.Gly2362=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152307800C>T | CA1104908 | FLG | c.7086G>A (p.Gly2362=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307801C>A | CA342049322 | FLG | c.7085G>T (p.Gly2362Val)
| dbSNP gnomAD v4 |
| 1 | g.152307801C= | CA2479949325 | FLG | c.7085G= (p.Gly2362=)
| |
| 1 | g.152307801C>G | CA342049323 | FLG | c.7085G>C (p.Gly2362Ala)
| |
| 1 | g.152307801C>T | CA342049324 | FLG | c.7085G>A (p.Gly2362Glu)
| gnomAD v4 |
| 1 | g.152307802C>A | CA342049325 | FLG | c.7084G>T (p.Gly2362Trp)
| |
| 1 | g.152307802C= | CA2479949326 | FLG | c.7084G= (p.Gly2362=)
| |
| 1 | g.152307802C>G | CA342049326 | FLG | c.7084G>C (p.Gly2362Arg)
| |
| 1 | g.152307802C>T | CA342049327 | FLG | c.7084G>A (p.Gly2362Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307803T>A | CA420928398 | FLG | c.7083A>T (p.Arg2361=)
| |
| 1 | g.152307803T>C | CA420928399 | FLG | c.7083A>G (p.Arg2361=)
| gnomAD v4 |
| 1 | g.152307803T>G | CA420928400 | FLG | c.7083A>C (p.Arg2361=)
| |
| 1 | g.152307804C>A | CA342049329 | FLG | c.7082G>T (p.Arg2361Leu)
| |
| 1 | g.152307804C= | CA2479949327 | FLG | c.7082G= (p.Arg2361=)
| |
| 1 | g.152307804C>G | CA342049330 | FLG | c.7082G>C (p.Arg2361Pro)
| gnomAD v4 |
| 1 | g.152307804C>T | CA342049328 | FLG | c.7082G>A (p.Arg2361Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307804_152307805delinsCG | CA2479949328 | FLG | c.7081_7082delinsCG (p.Arg2361=)
| |
| 1 | g.152307805G>A | CA1104911 | FLG | c.7081C>T (p.Arg2361Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307805G>C | CA342049331 | FLG | c.7081C>G (p.Arg2361Gly)
| gnomAD v4 |
| 1 | g.152307805G= | CA1144364894 | FLG | c.7081C= (p.Arg2361=)
| |
| 1 | g.152307805G>T | CA1104910 | FLG | c.7081C>A (p.Arg2361=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307806del | CA526662197 | FLG | c.7081del (p.Arg2361GlufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307806G>A | CA420928407 | FLG | c.7080C>T (p.His2360=)
| |
| 1 | g.152307806G>C | CA342049332 | FLG | c.7080C>G (p.His2360Gln)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.152307806G= | CA2479949329 | FLG | c.7080C= (p.His2360=)
| |
| 1 | g.152307806G>T | CA342049333 | FLG | c.7080C>A (p.His2360Gln)
| gnomAD v4 |
| 1 | g.152307807T>A | CA342049336 | FLG | c.7079A>T (p.His2360Leu)
| |
| 1 | g.152307807T>C | CA342049334 | FLG | c.7079A>G (p.His2360Arg)
| dbSNP gnomAD v4 |
| 1 | g.152307807T>G | CA342049335 | FLG | c.7079A>C (p.His2360Pro)
| |
| 1 | g.152307807T= | CA2479949330 | FLG | c.7079A= (p.His2360=)
| |
| 1 | g.152307808G>A | CA342049337 | FLG | c.7078C>T (p.His2360Tyr)
| gnomAD v4 |
| 1 | g.152307808G>C | CA342049338 | FLG | c.7078C>G (p.His2360Asp)
| |
| 1 | g.152307808G>T | CA342049339 | FLG | c.7078C>A (p.His2360Asn)
| gnomAD v4 |
| 1 | g.152307809T>A | CA420928412 | FLG | c.7077A>T (p.Gly2359=)
| |
| 1 | g.152307809T>C | CA420928414 | FLG | c.7077A>G (p.Gly2359=)
| gnomAD v4 |
| 1 | g.152307809T>G | CA420928415 | FLG | c.7077A>C (p.Gly2359=)
| |
| 1 | g.152307810C>A | CA342049340 | FLG | c.7076G>T (p.Gly2359Val)
| |
| 1 | g.152307810C= | CA2479949331 | FLG | c.7076G= (p.Gly2359=)
| |
| 1 | g.152307810C>G | CA342049341 | FLG | c.7076G>C (p.Gly2359Ala)
| |
| 1 | g.152307810C>T | CA342049342 | FLG | c.7076G>A (p.Gly2359Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307811C>A | CA342049344 | FLG | c.7075G>T (p.Gly2359Ter)
| |
| 1 | g.152307811C>G | CA342049345 | FLG | c.7075G>C (p.Gly2359Arg)
| |
| 1 | g.152307811C>T | CA342049343 | FLG | c.7075G>A (p.Gly2359Arg)
| gnomAD v4 |
| 1 | g.152307812A>C | CA342049346 | FLG | c.7074T>G (p.Ser2358Arg)
| |
| 1 | g.152307812A>G | CA420928420 | FLG | c.7074T>C (p.Ser2358=)
| gnomAD v4 |
| 1 | g.152307812A>T | CA342049347 | FLG | c.7074T>A (p.Ser2358Arg)
| |
| 1 | g.152307813C>A | CA342049348 | FLG | c.7073G>T (p.Ser2358Ile)
| |
| 1 | g.152307813C= | CA1144084755 | FLG | c.7073G= (p.Ser2358=)
| |
| 1 | g.152307813C>G | CA1104913 | FLG | c.7073G>C (p.Ser2358Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307813C>T | CA1104912 | FLG | c.7073G>A (p.Ser2358Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307814T>A | CA342049349 | FLG | c.7072A>T (p.Ser2358Cys)
| |
| 1 | g.152307814T>C | CA342049350 | FLG | c.7072A>G (p.Ser2358Gly)
| |
| 1 | g.152307814T>G | CA342049351 | FLG | c.7072A>C (p.Ser2358Arg)
| |
| 1 | g.152307815G>A | CA420928425 | FLG | c.7071C>T (p.Asp2357=)
| gnomAD v4 |
| 1 | g.152307815G>C | CA342049352 | FLG | c.7071C>G (p.Asp2357Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307815G= | CA2479949332 | FLG | c.7071C= (p.Asp2357=)
| |
| 1 | g.152307815G>T | CA342049353 | FLG | c.7071C>A (p.Asp2357Glu)
| |
| 1 | g.152307815_152307817delinsGTC | CA2479949333 | FLG | c.7069_7071delinsGAC (p.Asp2357=)
| |
| 1 | g.152307816T>A | CA342049354 | FLG | c.7070A>T (p.Asp2357Val)
| |
| 1 | g.152307816T>C | CA342049355 | FLG | c.7070A>G (p.Asp2357Gly)
| |
| 1 | g.152307816T>G | CA342049356 | FLG | c.7070A>C (p.Asp2357Ala)
| |
| 1 | g.152307819_152307820del | CA2479949334 | FLG | c.7069_7070del (p.Asp2357GlnfsTer9)
| dbSNP gnomAD v4 |
| 1 | g.152307817C>A | CA342049359 | FLG | c.7069G>T (p.Asp2357Tyr)
| |
| 1 | g.152307817C>G | CA342049358 | FLG | c.7069G>C (p.Asp2357His)
| gnomAD v4 |
| 1 | g.152307817C>T | CA342049357 | FLG | c.7069G>A (p.Asp2357Asn)
| |
| 1 | g.152307818T>A | CA342049360 | FLG | c.7068A>T (p.Arg2356Ser)
| COSMIC |
| 1 | g.152307818T>C | CA420928430 | FLG | c.7068A>G (p.Arg2356=)
| |
| 1 | g.152307818T>G | CA342049361 | FLG | c.7068A>C (p.Arg2356Ser)
| |
| 1 | g.152307819C>A | CA342049362 | FLG | c.7067G>T (p.Arg2356Ile)
| |
| 1 | g.152307819C= | CA2479949335 | FLG | c.7067G= (p.Arg2356=)
| |
| 1 | g.152307819C>G | CA30549201 | FLG | c.7067G>C (p.Arg2356Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307819C>T | CA342049363 | FLG | c.7067G>A (p.Arg2356Lys)
| |
| 1 | g.152307820T>A | CA342049364 | FLG | c.7066A>T (p.Arg2356Ter)
| |
| 1 | g.152307820T>C | CA342049365 | FLG | c.7066A>G (p.Arg2356Gly)
| gnomAD v4 |
| 1 | g.152307820T>G | CA420928431 | FLG | c.7066A>C (p.Arg2356=)
| |
| 1 | g.152307821G>A | CA420928432 | FLG | c.7065C>T (p.Val2355=)
| |
| 1 | g.152307821G>C | CA420928433 | FLG | c.7065C>G (p.Val2355=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307821G= | CA2479949336 | FLG | c.7065C= (p.Val2355=)
| |
| 1 | g.152307821G>T | CA420928434 | FLG | c.7065C>A (p.Val2355=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307822A= | CA2479949337 | FLG | c.7064T= (p.Val2355=)
| |
| 1 | g.152307822A>C | CA342049366 | FLG | c.7064T>G (p.Val2355Gly)
| |
| 1 | g.152307822A>G | CA342049367 | FLG | c.7064T>C (p.Val2355Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307822A>T | CA342049368 | FLG | c.7064T>A (p.Val2355Asp)
| |
| 1 | g.152307823C>A | CA342049369 | FLG | c.7063G>T (p.Val2355Phe)
| gnomAD v4 |
| 1 | g.152307823C= | CA2479949338 | FLG | c.7063G= (p.Val2355=)
| |
| 1 | g.152307823C>G | CA342049370 | FLG | c.7063G>C (p.Val2355Leu)
| |
| 1 | g.152307823C>T | CA342049371 | FLG | c.7063G>A (p.Val2355Ile)
| dbSNP |
| 1 | g.152307824T>A | CA420928438 | FLG | c.7062A>T (p.Ala2354=)
| |
| 1 | g.152307824T>C | CA1104914 | FLG | c.7062A>G (p.Ala2354=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307824T>G | CA420928439 | FLG | c.7062A>C (p.Ala2354=)
| |
| 1 | g.152307824T= | CA1148259690 | FLG | c.7062A= (p.Ala2354=)
| |
| 1 | g.152307824_152307833delinsTGCAGATGAA | CA2479949339 | FLG | c.7053_7062delinsTTCATCTGCA (p.Ala2351=)
| |
| 1 | g.152307825G>A | CA342049374 | FLG | c.7061C>T (p.Ala2354Val)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152307825G>C | CA342049373 | FLG | c.7061C>G (p.Ala2354Gly)
| |
| 1 | g.152307825G= | CA2479949340 | FLG | c.7061C= (p.Ala2354=)
| |
| 1 | g.152307825G>T | CA342049372 | FLG | c.7061C>A (p.Ala2354Glu)
| |
| 1 | g.152307827_152307835del | CA30549207 | FLG | c.7053_7061del (p.Ser2352_Ala2354del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307826C>A | CA342049375 | FLG | c.7060G>T (p.Ala2354Ser)
| gnomAD v4 |
| 1 | g.152307826C>G | CA342049376 | FLG | c.7060G>C (p.Ala2354Pro)
| |
| 1 | g.152307826C>T | CA342049377 | FLG | c.7060G>A (p.Ala2354Thr)
| |
| 1 | g.152307827A>C | CA420928445 | FLG | c.7059T>G (p.Ser2353=)
| |
| 1 | g.152307827A>G | CA420928447 | FLG | c.7059T>C (p.Ser2353=)
| |
| 1 | g.152307827A>T | CA420928448 | FLG | c.7059T>A (p.Ser2353=)
| |
| 1 | g.152307828G>A | CA342049378 | FLG | c.7058C>T (p.Ser2353Phe)
| |
| 1 | g.152307828G>C | CA1104915 | FLG | c.7058C>G (p.Ser2353Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307828G= | CA1143401940 | FLG | c.7058C= (p.Ser2353=)
| |
| 1 | g.152307828G>T | CA1104916 | FLG | c.7058C>A (p.Ser2353Tyr)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152307829A>C | CA342049381 | FLG | c.7057T>G (p.Ser2353Ala)
| |
| 1 | g.152307829A>G | CA342049380 | FLG | c.7057T>C (p.Ser2353Pro)
| |
| 1 | g.152307829A>T | CA342049379 | FLG | c.7057T>A (p.Ser2353Thr)
| |
| 1 | g.152307830T>A | CA420928453 | FLG | c.7056A>T (p.Ser2352=)
| |
| 1 | g.152307830T>C | CA420928454 | FLG | c.7056A>G (p.Ser2352=)
| gnomAD v4 |
| 1 | g.152307830T>G | CA420928455 | FLG | c.7056A>C (p.Ser2352=)
| |
| 1 | g.152307831G>A | CA342049382 | FLG | c.7055C>T (p.Ser2352Leu)
| |
| 1 | g.152307831G>C | CA1104917 | FLG | c.7055C>G (p.Ser2352Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307831G= | CA1148409392 | FLG | c.7055C= (p.Ser2352=)
| |
| 1 | g.152307831G>T | CA342049383 | FLG | c.7055C>A (p.Ser2352Ter)
| |
| 1 | g.152307832A>C | CA342049384 | FLG | c.7054T>G (p.Ser2352Ala)
| |
| 1 | g.152307832A>G | CA342049385 | FLG | c.7054T>C (p.Ser2352Pro)
| |
| 1 | g.152307832A>T | CA342049386 | FLG | c.7054T>A (p.Ser2352Thr)
| gnomAD v4 |
| 1 | g.152307833A>C | CA420928457 | FLG | c.7053T>G (p.Ala2351=)
| gnomAD v4 |
| 1 | g.152307833A>G | CA420928459 | FLG | c.7053T>C (p.Ala2351=)
| |
| 1 | g.152307833A>T | CA420928460 | FLG | c.7053T>A (p.Ala2351=)
| |
| 1 | g.152307834G>A | CA342049387 | FLG | c.7052C>T (p.Ala2351Val)
| |
| 1 | g.152307834G>C | CA342049389 | FLG | c.7052C>G (p.Ala2351Gly)
| gnomAD v4 |
| 1 | g.152307834G= | CA2479949341 | FLG | c.7052C= (p.Ala2351=)
| |
| 1 | g.152307834G>T | CA342049388 | FLG | c.7052C>A (p.Ala2351Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307835C>A | CA342049390 | FLG | c.7051G>T (p.Ala2351Ser)
| |
| 1 | g.152307835C>G | CA342049391 | FLG | c.7051G>C (p.Ala2351Pro)
| gnomAD v4 |
| 1 | g.152307835C>T | CA342049392 | FLG | c.7051G>A (p.Ala2351Thr)
| |
| 1 | g.152307836T>A | CA342049393 | FLG | c.7050A>T (p.Gln2350His)
| |
| 1 | g.152307836T>C | CA420928464 | FLG | c.7050A>G (p.Gln2350=)
| |
| 1 | g.152307836T>G | CA342049395 | FLG | c.7050A>C (p.Gln2350His)
| |
| 1 | g.152307837T>A | CA342049396 | FLG | c.7049A>T (p.Gln2350Leu)
| |
| 1 | g.152307837T>C | CA342049397 | FLG | c.7049A>G (p.Gln2350Arg)
| |
| 1 | g.152307837T>G | CA342049398 | FLG | c.7049A>C (p.Gln2350Pro)
| |
| 1 | g.152307838_152307839del | CA2647993488 | FLG | c.7048_7049del (p.Gln2350SerfsTer16)
| gnomAD v4 |
| 1 | g.152307838G>A | CA1104918 | FLG | c.7048C>T (p.Gln2350Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307838G>C | CA342049399 | FLG | c.7048C>G (p.Gln2350Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307838G= | CA2479949342 | FLG | c.7048C= (p.Gln2350=)
| |
| 1 | g.152307838G>T | CA342049400 | FLG | c.7048C>A (p.Gln2350Lys)
| dbSNP |
| 1 | g.152307839T>A | CA420928469 | FLG | c.7047A>T (p.Gly2349=)
| |
| 1 | g.152307839T>C | CA420928470 | FLG | c.7047A>G (p.Gly2349=)
| dbSNP |
| 1 | g.152307839T>G | CA420928472 | FLG | c.7047A>C (p.Gly2349=)
| |
| 1 | g.152307839T= | CA2479949343 | FLG | c.7047A= (p.Gly2349=)
| |
| 1 | g.152307840C>A | CA342049401 | FLG | c.7046G>T (p.Gly2349Val)
| gnomAD v4 |
| 1 | g.152307840C= | CA2479949345 | FLG | c.7046G= (p.Gly2349=)
| |
| 1 | g.152307840C>G | CA342049403 | FLG | c.7046G>C (p.Gly2349Ala)
| |
| 1 | g.152307840C>T | CA342049402 | FLG | c.7046G>A (p.Gly2349Glu)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152307840_152307842delinsCCG | CA2479949344 | FLG | c.7044_7046delinsCGG (p.His2348=)
| |
| 1 | g.152307841C>A | CA342049404 | FLG | c.7045G>T (p.Gly2349Ter)
| dbSNP |
| 1 | g.152307841C= | CA2479949346 | FLG | c.7045G= (p.Gly2349=)
| |
| 1 | g.152307841C>G | CA342049406 | FLG | c.7045G>C (p.Gly2349Arg)
| gnomAD v4 |
| 1 | g.152307841C>T | CA342049405 | FLG | c.7045G>A (p.Gly2349Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307841_152307842del | CA526662205 | FLG | c.7044_7045del (p.His2348GlnfsTer18)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307842G>A | CA1104919 | FLG | c.7044C>T (p.His2348=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307842G>C | CA1104920 | FLG | c.7044C>G (p.His2348Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307842G= | CA1142156106 | FLG | c.7044C= (p.His2348=)
| |
| 1 | g.152307842G>T | CA342049407 | FLG | c.7044C>A (p.His2348Gln)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152307843T>A | CA342049408 | FLG | c.7043A>T (p.His2348Leu)
| |
| 1 | g.152307843T>C | CA30549223 | FLG | c.7043A>G (p.His2348Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307843T>G | CA342049409 | FLG | c.7043A>C (p.His2348Pro)
| |
| 1 | g.152307843T= | CA2479949347 | FLG | c.7043A= (p.His2348=)
| |
| 1 | g.152307844G>A | CA342049410 | FLG | c.7042C>T (p.His2348Tyr)
| |
| 1 | g.152307844G>C | CA342049411 | FLG | c.7042C>G (p.His2348Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307844G= | CA2479949348 | FLG | c.7042C= (p.His2348=)
| |
| 1 | g.152307844G>T | CA342049412 | FLG | c.7042C>A (p.His2348Asn)
| |
| 1 | g.152307845C>A | CA420928583 | FLG | c.7041G>T (p.Gly2347=)
| |
| 1 | g.152307845C= | CA2479949349 | FLG | c.7041G= (p.Gly2347=)
| |
| 1 | g.152307845C>G | CA420928581 | FLG | c.7041G>C (p.Gly2347=)
| |
| 1 | g.152307845C>T | CA420928580 | FLG | c.7041G>A (p.Gly2347=)
| dbSNP gnomAD v4 |
| 1 | g.152307845_152307846insAC | CA2647993489 | FLG | c.7041_7042insTG (p.His2348CysfsTer?)
| gnomAD v4 |
| 1 | g.152307846C>A | CA342049413 | FLG | c.7040G>T (p.Gly2347Val)
| |
| 1 | g.152307846C= | CA2479949350 | FLG | c.7040G= (p.Gly2347=)
| |
| 1 | g.152307846C>G | CA30549227 | FLG | c.7040G>C (p.Gly2347Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307846C>T | CA342049414 | FLG | c.7040G>A (p.Gly2347Glu)
| dbSNP gnomAD v4 |
| 1 | g.152307847C>A | CA342049415 | FLG | c.7039G>T (p.Gly2347Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307847C= | CA2479949351 | FLG | c.7039G= (p.Gly2347=)
| |
| 1 | g.152307847C>G | CA30549228 | FLG | c.7039G>C (p.Gly2347Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307847C>T | CA342049416 | FLG | c.7039G>A (p.Gly2347Arg)
| |
| 1 | g.152307847_152307848insGG | CA526662206 | FLG | c.7038_7039insCC (p.Gly2347ProfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307848A>C | CA342049417 | FLG | c.7038T>G (p.Ile2346Met)
| |
| 1 | g.152307848A>G | CA420928592 | FLG | c.7038T>C (p.Ile2346=)
| gnomAD v4 |
| 1 | g.152307848A>T | CA420928591 | FLG | c.7038T>A (p.Ile2346=)
| |
| 1 | g.152307849A= | CA1141713102 | FLG | c.7037T= (p.Ile2346=)
| |
| 1 | g.152307849A>C | CA342049418 | FLG | c.7037T>G (p.Ile2346Ser)
| |
| 1 | g.152307849A>G | CA1104921 | FLG | c.7037T>C (p.Ile2346Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307849A>T | CA1104922 | FLG | c.7037T>A (p.Ile2346Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307850T>A | CA342049419 | FLG | c.7036A>T (p.Ile2346Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307850T>C | CA342049420 | FLG | c.7036A>G (p.Ile2346Val)
| |
| 1 | g.152307850T>G | CA342049421 | FLG | c.7036A>C (p.Ile2346Leu)
| |
| 1 | g.152307850T= | CA2479949352 | FLG | c.7036A= (p.Ile2346=)
| |
| 1 | g.152307851G>A | CA420928598 | FLG | c.7035C>T (p.Gly2345=)
| gnomAD v4 |
| 1 | g.152307851G>C | CA420928604 | FLG | c.7035C>G (p.Gly2345=)
| |
| 1 | g.152307851G>T | CA420928600 | FLG | c.7035C>A (p.Gly2345=)
| gnomAD v4 |
| 1 | g.152307852C>A | CA342049422 | FLG | c.7034G>T (p.Gly2345Val)
| |
| 1 | g.152307852C= | CA2479949353 | FLG | c.7034G= (p.Gly2345=)
| |
| 1 | g.152307852C>G | CA342049423 | FLG | c.7034G>C (p.Gly2345Ala)
| dbSNP gnomAD v4 |
| 1 | g.152307852C>T | CA342049424 | FLG | c.7034G>A (p.Gly2345Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307853C>A | CA342049426 | FLG | c.7033G>T (p.Gly2345Cys)
| |
| 1 | g.152307853C= | CA2479949354 | FLG | c.7033G= (p.Gly2345=)
| |
| 1 | g.152307853C>G | CA342049427 | FLG | c.7033G>C (p.Gly2345Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307853C>T | CA342049425 | FLG | c.7033G>A (p.Gly2345Ser)
| gnomAD v4 |
| 1 | g.152307854T>A | CA1104923 | FLG | c.7032A>T (p.Ser2344=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307854T>C | CA420928610 | FLG | c.7032A>G (p.Ser2344=)
| gnomAD v4 |
| 1 | g.152307854T>G | CA420928611 | FLG | c.7032A>C (p.Ser2344=)
| |
| 1 | g.152307854T= | CA1143620221 | FLG | c.7032A= (p.Ser2344=)
| |
| 1 | g.152307855G>A | CA342049428 | FLG | c.7031C>T (p.Ser2344Leu)
| gnomAD v4 |
| 1 | g.152307855G>C | CA1104924 | FLG | c.7031C>G (p.Ser2344Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307855G= | CA1143883112 | FLG | c.7031C= (p.Ser2344=)
| |
| 1 | g.152307855G>T | CA342049429 | FLG | c.7031C>A (p.Ser2344Ter)
| gnomAD v4 |
| 1 | g.152307856A= | CA2479949355 | FLG | c.7030T= (p.Ser2344=)
| |
| 1 | g.152307856A>C | CA342049430 | FLG | c.7030T>G (p.Ser2344Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307856A>G | CA342049431 | FLG | c.7030T>C (p.Ser2344Pro)
| |
| 1 | g.152307856A>T | CA1104925 | FLG | c.7030T>A (p.Ser2344Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
