| 1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del)
| gnomAD v4 |
| 1 | g.152310896G>A | CA420930306 | FLG | c.3990C>T (p.Gly1330=)
| dbSNP gnomAD v2 |
| 1 | g.152310896G>C | CA420930307 | FLG | c.3990C>G (p.Gly1330=)
| |
| 1 | g.152310896G= | CA2479951124 | FLG | c.3990C= (p.Gly1330=)
| |
| 1 | g.152310896G>T | CA420930308 | FLG | c.3990C>A (p.Gly1330=)
| gnomAD v4 |
| 1 | g.152310897C>A | CA342079855 | FLG | c.3989G>T (p.Gly1330Val)
| |
| 1 | g.152310897C= | CA2479951125 | FLG | c.3989G= (p.Gly1330=)
| |
| 1 | g.152310897C>G | CA342079865 | FLG | c.3989G>C (p.Gly1330Ala)
| gnomAD v3 gnomAD v4 |
| 1 | g.152310897C>T | CA1106412 | FLG | c.3989G>A (p.Gly1330Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310898C>A | CA342079878 | FLG | c.3988G>T (p.Gly1330Cys)
| |
| 1 | g.152310898C= | CA2479951126 | FLG | c.3988G= (p.Gly1330=)
| |
| 1 | g.152310898C>G | CA342079871 | FLG | c.3988G>C (p.Gly1330Arg)
| |
| 1 | g.152310898C>T | CA342079874 | FLG | c.3988G>A (p.Gly1330Ser)
| dbSNP |
| 1 | g.152310899T>A | CA420930312 | FLG | c.3987A>T (p.Ser1329=)
| gnomAD v4 |
| 1 | g.152310899T>C | CA420930310 | FLG | c.3987A>G (p.Ser1329=)
| |
| 1 | g.152310899T>G | CA420930313 | FLG | c.3987A>C (p.Ser1329=)
| |
| 1 | g.152310900G>A | CA342079879 | FLG | c.3986C>T (p.Ser1329Leu)
| |
| 1 | g.152310900G>C | CA342079881 | FLG | c.3986C>G (p.Ser1329Ter)
| COSMIC |
| 1 | g.152310900G= | CA2479951127 | FLG | c.3986C= (p.Ser1329=)
| |
| 1 | g.152310900G>T | CA1106413 | FLG | c.3986C>A (p.Ser1329Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310901A= | CA2479951128 | FLG | c.3985T= (p.Ser1329=)
| |
| 1 | g.152310901A>C | CA342079884 | FLG | c.3985T>G (p.Ser1329Ala)
| gnomAD v4 |
| 1 | g.152310901A>G | CA342079894 | FLG | c.3985T>C (p.Ser1329Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310901A>T | CA342079889 | FLG | c.3985T>A (p.Ser1329Thr)
| |
| 1 | g.152310902T>A | CA342079897 | FLG | c.3984A>T (p.Gln1328His)
| gnomAD v4 |
| 1 | g.152310902T>C | CA420930315 | FLG | c.3984A>G (p.Gln1328=)
| dbSNP gnomAD v4 |
| 1 | g.152310902T>G | CA342079900 | FLG | c.3984A>C (p.Gln1328His)
| dbSNP |
| 1 | g.152310902T= | CA2479951129 | FLG | c.3984A= (p.Gln1328=)
| |
| 1 | g.152310903T>A | CA1106414 | FLG | c.3983A>T (p.Gln1328Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310903T>C | CA342079907 | FLG | c.3983A>G (p.Gln1328Arg)
| |
| 1 | g.152310903T>G | CA342079910 | FLG | c.3983A>C (p.Gln1328Pro)
| |
| 1 | g.152310903T= | CA2479951130 | FLG | c.3983A= (p.Gln1328=)
| |
| 1 | g.152310905_152310908del | CA2647993605 | FLG | c.3980_3983del (p.Arg1327AsnfsTer?)
| gnomAD v4 |
| 1 | g.152310913_152310972dup | CA2647993604 | FLG | c.3924_3983dup (p.Arg1327_Gln1328insHisProGlyPheHisGlnGluAspArgAlaSerHisGlyHisSerAlaAspSerSerArg)
| gnomAD v4 |
| 1 | g.152310904G>A | CA342079915 | FLG | c.3982C>T (p.Gln1328Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310904G>C | CA342079919 | FLG | c.3982C>G (p.Gln1328Glu)
| gnomAD v4 |
| 1 | g.152310904G= | CA2479951131 | FLG | c.3982C= (p.Gln1328=)
| |
| 1 | g.152310904G>T | CA342079928 | FLG | c.3982C>A (p.Gln1328Lys)
| gnomAD v4 |
| 1 | g.152310905T>A | CA1106415 | FLG | c.3981A>T (p.Arg1327Ser)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152310905T>C | CA420930320 | FLG | c.3981A>G (p.Arg1327=)
| |
| 1 | g.152310905T>G | CA342079942 | FLG | c.3981A>C (p.Arg1327Ser)
| |
| 1 | g.152310905T= | CA1143375546 | FLG | c.3981A= (p.Arg1327=)
| |
| 1 | g.152310906C>A | CA342079945 | FLG | c.3980G>T (p.Arg1327Ile)
| |
| 1 | g.152310906C>G | CA342079947 | FLG | c.3980G>C (p.Arg1327Thr)
| |
| 1 | g.152310906C>T | CA342079950 | FLG | c.3980G>A (p.Arg1327Lys)
| |
| 1 | g.152310907T>A | CA342079954 | FLG | c.3979A>T (p.Arg1327Ter)
| |
| 1 | g.152310907T>C | CA342079953 | FLG | c.3979A>G (p.Arg1327Gly)
| |
| 1 | g.152310907T>G | CA420930323 | FLG | c.3979A>C (p.Arg1327=)
| |
| 1 | g.152310908G>A | CA1106416 | FLG | c.3978C>T (p.Ser1326=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310908G>C | CA420930327 | FLG | c.3978C>G (p.Ser1326=)
| |
| 1 | g.152310908G= | CA2479951132 | FLG | c.3978C= (p.Ser1326=)
| |
| 1 | g.152310908G>T | CA420930329 | FLG | c.3978C>A (p.Ser1326=)
| |
| 1 | g.152310909G>A | CA342079955 | FLG | c.3977C>T (p.Ser1326Phe)
| gnomAD v4 |
| 1 | g.152310909G>C | CA342079956 | FLG | c.3977C>G (p.Ser1326Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310909G= | CA2479951133 | FLG | c.3977C= (p.Ser1326=)
| |
| 1 | g.152310909G>T | CA342079960 | FLG | c.3977C>A (p.Ser1326Tyr)
| |
| 1 | g.152310910A= | CA2479951134 | FLG | c.3976T= (p.Ser1326=)
| |
| 1 | g.152310910A>C | CA342079963 | FLG | c.3976T>G (p.Ser1326Ala)
| |
| 1 | g.152310910A>G | CA342079964 | FLG | c.3976T>C (p.Ser1326Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310910A>T | CA342079966 | FLG | c.3976T>A (p.Ser1326Thr)
| |
| 1 | g.152310911G>A | CA420930330 | FLG | c.3975C>T (p.Ser1325=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310911G>C | CA342079970 | FLG | c.3975C>G (p.Ser1325Arg)
| |
| 1 | g.152310911G= | CA2479951135 | FLG | c.3975C= (p.Ser1325=)
| |
| 1 | g.152310911G>T | CA342079973 | FLG | c.3975C>A (p.Ser1325Arg)
| |
| 1 | g.152310912C>A | CA342079975 | FLG | c.3974G>T (p.Ser1325Ile)
| |
| 1 | g.152310912C= | CA2479951136 | FLG | c.3974G= (p.Ser1325=)
| |
| 1 | g.152310912C>G | CA342079977 | FLG | c.3974G>C (p.Ser1325Thr)
| |
| 1 | g.152310912C>T | CA1106417 | FLG | c.3974G>A (p.Ser1325Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310913T>A | CA342079985 | FLG | c.3973A>T (p.Ser1325Cys)
| |
| 1 | g.152310913T>C | CA1106418 | FLG | c.3973A>G (p.Ser1325Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310913T>G | CA342079982 | FLG | c.3973A>C (p.Ser1325Arg)
| |
| 1 | g.152310913T= | CA1148256444 | FLG | c.3973A= (p.Ser1325=)
| |
| 1 | g.152310914G>A | CA420930438 | FLG | c.3972C>T (p.Asp1324=)
| dbSNP gnomAD v4 |
| 1 | g.152310914G>C | CA342079995 | FLG | c.3972C>G (p.Asp1324Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310914G= | CA1144301021 | FLG | c.3972C= (p.Asp1324=)
| |
| 1 | g.152310914G>T | CA1106419 | FLG | c.3972C>A (p.Asp1324Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310915T>A | CA342080000 | FLG | c.3971A>T (p.Asp1324Val)
| |
| 1 | g.152310915T>C | CA342080002 | FLG | c.3971A>G (p.Asp1324Gly)
| |
| 1 | g.152310915T>G | CA342080006 | FLG | c.3971A>C (p.Asp1324Ala)
| |
| 1 | g.152310916C>A | CA342080011 | FLG | c.3970G>T (p.Asp1324Tyr)
| |
| 1 | g.152310916C= | CA2479951137 | FLG | c.3970G= (p.Asp1324=)
| |
| 1 | g.152310916C>G | CA342080012 | FLG | c.3970G>C (p.Asp1324His)
| |
| 1 | g.152310916C>T | CA1106420 | FLG | c.3970G>A (p.Asp1324Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310917T>A | CA420930439 | FLG | c.3969A>T (p.Ala1323=)
| |
| 1 | g.152310917T>C | CA420930440 | FLG | c.3969A>G (p.Ala1323=)
| dbSNP gnomAD v4 |
| 1 | g.152310917T>G | CA420930441 | FLG | c.3969A>C (p.Ala1323=)
| |
| 1 | g.152310917T= | CA2479951138 | FLG | c.3969A= (p.Ala1323=)
| |
| 1 | g.152310918G>A | CA342080020 | FLG | c.3968C>T (p.Ala1323Val)
| |
| 1 | g.152310918G>C | CA342080022 | FLG | c.3968C>G (p.Ala1323Gly)
| |
| 1 | g.152310918G= | CA2479951139 | FLG | c.3968C= (p.Ala1323=)
| |
| 1 | g.152310918G>T | CA342080024 | FLG | c.3968C>A (p.Ala1323Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310919C>A | CA342080027 | FLG | c.3967G>T (p.Ala1323Ser)
| |
| 1 | g.152310919C= | CA1148426389 | FLG | c.3967G= (p.Ala1323=)
| |
| 1 | g.152310919C>G | CA342080029 | FLG | c.3967G>C (p.Ala1323Pro)
| |
| 1 | g.152310919C>T | CA1106421 | FLG | c.3967G>A (p.Ala1323Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310920A= | CA2479951140 | FLG | c.3966T= (p.Ser1322=)
| |
| 1 | g.152310920A>C | CA420930443 | FLG | c.3966T>G (p.Ser1322=)
| |
| 1 | g.152310920A>G | CA30556155 | FLG | c.3966T>C (p.Ser1322=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310920A>T | CA420930444 | FLG | c.3966T>A (p.Ser1322=)
| COSMIC |
| 1 | g.152310921G>A | CA342080031 | FLG | c.3965C>T (p.Ser1322Phe)
| gnomAD v4 |
| 1 | g.152310921G>C | CA342080034 | FLG | c.3965C>G (p.Ser1322Cys)
| |
| 1 | g.152310921G>T | CA342080035 | FLG | c.3965C>A (p.Ser1322Tyr)
| |
| 1 | g.152310922A= | CA2479951141 | FLG | c.3964T= (p.Ser1322=)
| |
| 1 | g.152310922A>C | CA1106422 | FLG | c.3964T>G (p.Ser1322Ala)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152310922A>G | CA342080037 | FLG | c.3964T>C (p.Ser1322Pro)
| gnomAD v4 |
| 1 | g.152310922A>T | CA342080039 | FLG | c.3964T>A (p.Ser1322Thr)
| |
| 1 | g.152310923G>A | CA420930446 | FLG | c.3963C>T (p.His1321=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310923G>C | CA342080042 | FLG | c.3963C>G (p.His1321Gln)
| gnomAD v4 |
| 1 | g.152310923G= | CA2479951142 | FLG | c.3963C= (p.His1321=)
| |
| 1 | g.152310923G>T | CA342080044 | FLG | c.3963C>A (p.His1321Gln)
| gnomAD v4 |
| 1 | g.152310924T>A | CA342080050 | FLG | c.3962A>T (p.His1321Leu)
| |
| 1 | g.152310924T>C | CA342080052 | FLG | c.3962A>G (p.His1321Arg)
| dbSNP |
| 1 | g.152310924T>G | CA342080054 | FLG | c.3962A>C (p.His1321Pro)
| |
| 1 | g.152310924T= | CA2479951143 | FLG | c.3962A= (p.His1321=)
| |
| 1 | g.152310925G>A | CA342080056 | FLG | c.3961C>T (p.His1321Tyr)
| |
| 1 | g.152310925G>C | CA342080058 | FLG | c.3961C>G (p.His1321Asp)
| |
| 1 | g.152310925G= | CA2479951144 | FLG | c.3961C= (p.His1321=)
| |
| 1 | g.152310925G>T | CA1106423 | FLG | c.3961C>A (p.His1321Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310926C>A | CA1106424 | FLG | c.3960G>T (p.Gly1320=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310926C= | CA2479951145 | FLG | c.3960G= (p.Gly1320=)
| |
| 1 | g.152310926C>G | CA420930448 | FLG | c.3960G>C (p.Gly1320=)
| gnomAD v4 |
| 1 | g.152310926C>T | CA420930449 | FLG | c.3960G>A (p.Gly1320=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310927C>A | CA342080069 | FLG | c.3959G>T (p.Gly1320Val)
| gnomAD v4 |
| 1 | g.152310927C= | CA2479951146 | FLG | c.3959G= (p.Gly1320=)
| |
| 1 | g.152310927C>G | CA342080067 | FLG | c.3959G>C (p.Gly1320Ala)
| gnomAD v4 |
| 1 | g.152310927C>T | CA30556168 | FLG | c.3959G>A (p.Gly1320Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310928C>A | CA342080073 | FLG | c.3958G>T (p.Gly1320Trp)
| |
| 1 | g.152310928C= | CA1143486053 | FLG | c.3958G= (p.Gly1320=)
| |
| 1 | g.152310928C>G | CA342080075 | FLG | c.3958G>C (p.Gly1320Arg)
| gnomAD v4 |
| 1 | g.152310928C>T | CA1106425 | FLG | c.3958G>A (p.Gly1320Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310929G>A | CA1106426 | FLG | c.3957C>T (p.His1319=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310929G>C | CA342080081 | FLG | c.3957C>G (p.His1319Gln)
| |
| 1 | g.152310929G= | CA1141123407 | FLG | c.3957C= (p.His1319=)
| |
| 1 | g.152310929G>T | CA342080083 | FLG | c.3957C>A (p.His1319Gln)
| |
| 1 | g.152310930T>A | CA342080086 | FLG | c.3956A>T (p.His1319Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310930T>C | CA342080088 | FLG | c.3956A>G (p.His1319Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310930T>G | CA342080090 | FLG | c.3956A>C (p.His1319Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310930T= | CA2479951147 | FLG | c.3956A= (p.His1319=)
| |
| 1 | g.152310931G>A | CA1106427 | FLG | c.3955C>T (p.His1319Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310931G>C | CA342080095 | FLG | c.3955C>G (p.His1319Asp)
| |
| 1 | g.152310931G= | CA2479951148 | FLG | c.3955C= (p.His1319=)
| |
| 1 | g.152310931G>T | CA342080096 | FLG | c.3955C>A (p.His1319Asn)
| gnomAD v4 |
| 1 | g.152310932A>C | CA342080101 | FLG | c.3954T>G (p.Ser1318Arg)
| |
| 1 | g.152310932A>G | CA420930456 | FLG | c.3954T>C (p.Ser1318=)
| gnomAD v4 |
| 1 | g.152310932A>T | CA342080100 | FLG | c.3954T>A (p.Ser1318Arg)
| |
| 1 | g.152310933C>A | CA342080102 | FLG | c.3953G>T (p.Ser1318Ile)
| |
| 1 | g.152310933C= | CA2479951149 | FLG | c.3953G= (p.Ser1318=)
| |
| 1 | g.152310933C>G | CA342080103 | FLG | c.3953G>C (p.Ser1318Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310933C>T | CA342080104 | FLG | c.3953G>A (p.Ser1318Asn)
| gnomAD v4 |
| 1 | g.152310934T>A | CA342080105 | FLG | c.3952A>T (p.Ser1318Cys)
| gnomAD v4 |
| 1 | g.152310934T>C | CA1106428 | FLG | c.3952A>G (p.Ser1318Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310934T>G | CA342080107 | FLG | c.3952A>C (p.Ser1318Arg)
| |
| 1 | g.152310934T= | CA1141259314 | FLG | c.3952A= (p.Ser1318=)
| |
| 1 | g.152310935G>A | CA30556179 | FLG | c.3951C>T (p.Ala1317=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310935G>C | CA420930459 | FLG | c.3951C>G (p.Ala1317=)
| |
| 1 | g.152310935G= | CA1147706050 | FLG | c.3951C= (p.Ala1317=)
| |
| 1 | g.152310935G>T | CA420930458 | FLG | c.3951C>A (p.Ala1317=)
| dbSNP gnomAD v4 |
| 1 | g.152310936G>A | CA1106429 | FLG | c.3950C>T (p.Ala1317Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310936G>C | CA342080113 | FLG | c.3950C>G (p.Ala1317Gly)
| gnomAD v4 |
| 1 | g.152310936G= | CA1143430301 | FLG | c.3950C= (p.Ala1317=)
| |
| 1 | g.152310936G>T | CA342080115 | FLG | c.3950C>A (p.Ala1317Asp)
| |
| 1 | g.152310937C>A | CA342080117 | FLG | c.3949G>T (p.Ala1317Ser)
| |
| 1 | g.152310937C= | CA2479951150 | FLG | c.3949G= (p.Ala1317=)
| |
| 1 | g.152310937C>G | CA342080119 | FLG | c.3949G>C (p.Ala1317Pro)
| |
| 1 | g.152310937C>T | CA1106430 | FLG | c.3949G>A (p.Ala1317Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310938T>A | CA342080125 | FLG | c.3948A>T (p.Arg1316Ser)
| |
| 1 | g.152310938T>C | CA420930461 | FLG | c.3948A>G (p.Arg1316=)
| COSMIC |
| 1 | g.152310938T>G | CA342080123 | FLG | c.3948A>C (p.Arg1316Ser)
| |
| 1 | g.152310939C>A | CA342080128 | FLG | c.3947G>T (p.Arg1316Ile)
| |
| 1 | g.152310939C= | CA2479951151 | FLG | c.3947G= (p.Arg1316=)
| |
| 1 | g.152310939C>G | CA1106431 | FLG | c.3947G>C (p.Arg1316Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310939C>T | CA342080131 | FLG | c.3947G>A (p.Arg1316Lys)
| dbSNP gnomAD v4 |
| 1 | g.152310940T>A | CA342080133 | FLG | c.3946A>T (p.Arg1316Ter)
| |
| 1 | g.152310940T>C | CA342080135 | FLG | c.3946A>G (p.Arg1316Gly)
| |
| 1 | g.152310940T>G | CA420930463 | FLG | c.3946A>C (p.Arg1316=)
| |
| 1 | g.152310941G>A | CA420930465 | FLG | c.3945C>T (p.Asp1315=)
| |
| 1 | g.152310941G>C | CA1106432 | FLG | c.3945C>G (p.Asp1315Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310941G= | CA2479951152 | FLG | c.3945C= (p.Asp1315=)
| |
| 1 | g.152310941G>T | CA342080139 | FLG | c.3945C>A (p.Asp1315Glu)
| |
| 1 | g.152310942T>A | CA342080142 | FLG | c.3944A>T (p.Asp1315Val)
| |
| 1 | g.152310942T>C | CA342080144 | FLG | c.3944A>G (p.Asp1315Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310942T>G | CA342080146 | FLG | c.3944A>C (p.Asp1315Ala)
| |
| 1 | g.152310942T= | CA2479951153 | FLG | c.3944A= (p.Asp1315=)
| |
| 1 | g.152310943C>A | CA342080150 | FLG | c.3943G>T (p.Asp1315Tyr)
| |
| 1 | g.152310943C= | CA2479951154 | FLG | c.3943G= (p.Asp1315=)
| |
| 1 | g.152310943C>G | CA1106434 | FLG | c.3943G>C (p.Asp1315His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310943C>T | CA1106433 | FLG | c.3943G>A (p.Asp1315Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310944T>A | CA342080163 | FLG | c.3942A>T (p.Glu1314Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310944T>C | CA420930468 | FLG | c.3942A>G (p.Glu1314=)
| |
| 1 | g.152310944T>G | CA342080160 | FLG | c.3942A>C (p.Glu1314Asp)
| |
| 1 | g.152310944T= | CA2479951155 | FLG | c.3942A= (p.Glu1314=)
| |
| 1 | g.152310945T>A | CA342080167 | FLG | c.3941A>T (p.Glu1314Val)
| |
| 1 | g.152310945T>C | CA342080170 | FLG | c.3941A>G (p.Glu1314Gly)
| |
| 1 | g.152310945T>G | CA342080175 | FLG | c.3941A>C (p.Glu1314Ala)
| |
| 1 | g.152310946C>A | CA1106435 | FLG | c.3940G>T (p.Glu1314Ter)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152310946C= | CA2479951156 | FLG | c.3940G= (p.Glu1314=)
| |
| 1 | g.152310946C>G | CA342080183 | FLG | c.3940G>C (p.Glu1314Gln)
| COSMIC |
| 1 | g.152310946C>T | CA342080186 | FLG | c.3940G>A (p.Glu1314Lys)
| |
| 1 | g.152310947T>A | CA342080189 | FLG | c.3939A>T (p.Gln1313His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310947T>C | CA420930469 | FLG | c.3939A>G (p.Gln1313=)
| gnomAD v4 |
| 1 | g.152310947T>G | CA1106436 | FLG | c.3939A>C (p.Gln1313His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310947T= | CA1142455987 | FLG | c.3939A= (p.Gln1313=)
| |
| 1 | g.152310948T>A | CA342080196 | FLG | c.3938A>T (p.Gln1313Leu)
| |
| 1 | g.152310948T>C | CA342080205 | FLG | c.3938A>G (p.Gln1313Arg)
| |
| 1 | g.152310948T>G | CA342080209 | FLG | c.3938A>C (p.Gln1313Pro)
| |
| 1 | g.152310949G>A | CA1106437 | FLG | c.3937C>T (p.Gln1313Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310949G>C | CA342080216 | FLG | c.3937C>G (p.Gln1313Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310949G= | CA1143894901 | FLG | c.3937C= (p.Gln1313=)
| |
| 1 | g.152310949G>T | CA342080220 | FLG | c.3937C>A (p.Gln1313Lys)
| gnomAD v4 |
| 1 | g.152310950A= | CA1141459123 | FLG | c.3936T= (p.His1312=)
| |
| 1 | g.152310950A>C | CA342080224 | FLG | c.3936T>G (p.His1312Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310950A>G | CA420930471 | FLG | c.3936T>C (p.His1312=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310950A>T | CA1106438 | FLG | c.3936T>A (p.His1312Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310951T>A | CA342080234 | FLG | c.3935A>T (p.His1312Leu)
| |
| 1 | g.152310951T>C | CA342080237 | FLG | c.3935A>G (p.His1312Arg)
| |
| 1 | g.152310951T>G | CA342080235 | FLG | c.3935A>C (p.His1312Pro)
| |
| 1 | g.152310952G>A | CA342080243 | FLG | c.3934C>T (p.His1312Tyr)
| |
| 1 | g.152310952G>C | CA342080247 | FLG | c.3934C>G (p.His1312Asp)
| |
| 1 | g.152310952G>T | CA342080245 | FLG | c.3934C>A (p.His1312Asn)
| |
| 1 | g.152310953G>A | CA420930475 | FLG | c.3933C>T (p.Phe1311=)
| gnomAD v4 |
| 1 | g.152310953G>C | CA342080250 | FLG | c.3933C>G (p.Phe1311Leu)
| |
| 1 | g.152310953G>T | CA342080253 | FLG | c.3933C>A (p.Phe1311Leu)
| |
| 1 | g.152310954A= | CA1140844009 | FLG | c.3932T= (p.Phe1311=)
| |
| 1 | g.152310954A>C | CA342080263 | FLG | c.3932T>G (p.Phe1311Cys)
| |
| 1 | g.152310954A>G | CA1106439 | FLG | c.3932T>C (p.Phe1311Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310954A>T | CA342080271 | FLG | c.3932T>A (p.Phe1311Tyr)
| |
| 1 | g.152310955A= | CA2479950856 | FLG | c.3931T= (p.Phe1311=)
| |
| 1 | g.152310955A>C | CA342080276 | FLG | c.3931T>G (p.Phe1311Val)
| |
| 1 | g.152310955A>G | CA342080279 | FLG | c.3931T>C (p.Phe1311Leu)
| gnomAD v4 |
| 1 | g.152310955A>T | CA1106441 | FLG | c.3931T>A (p.Phe1311Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310955_152310956delinsAC | CA2479950855 | FLG | c.3930_3931delinsGT (p.Gly1310=)
| |
| 1 | g.152310956C>A | CA420930480 | FLG | c.3930G>T (p.Gly1310=)
| |
| 1 | g.152310956C= | CA1148480197 | FLG | c.3930G= (p.Gly1310=)
| |
| 1 | g.152310956C>G | CA420930479 | FLG | c.3930G>C (p.Gly1310=)
| |
| 1 | g.152310956C>T | CA1106442 | FLG | c.3930G>A (p.Gly1310=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310956_152310958delinsCCC | CA1148466990 | FLG | c.3928_3930delinsGGG (p.Gly1310=)
| |
| 1 | g.152310958del | CA1106440 | FLG | c.3930del (p.Phe1311SerfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310957C>A | CA342080301 | FLG | c.3929G>T (p.Gly1310Val)
| gnomAD v4 |
| 1 | g.152310957C= | CA2479950857 | FLG | c.3929G= (p.Gly1310=)
| |
| 1 | g.152310957C>G | CA342080296 | FLG | c.3929G>C (p.Gly1310Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310957C>T | CA342080291 | FLG | c.3929G>A (p.Gly1310Glu)
| |
| 1 | g.152310958C>A | CA342080304 | FLG | c.3928G>T (p.Gly1310Trp)
| |
| 1 | g.152310958C= | CA2479950858 | FLG | c.3928G= (p.Gly1310=)
| |
| 1 | g.152310958C>G | CA342080308 | FLG | c.3928G>C (p.Gly1310Arg)
| |
| 1 | g.152310958C>T | CA1106443 | FLG | c.3928G>A (p.Gly1310Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310959A= | CA2479950860 | FLG | c.3927T= (p.Pro1309=)
| |
| 1 | g.152310959A>C | CA420930484 | FLG | c.3927T>G (p.Pro1309=)
| COSMIC |
| 1 | g.152310959A>G | CA1106444 | FLG | c.3927T>C (p.Pro1309=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310959A>T | CA1106445 | FLG | c.3927T>A (p.Pro1309=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152310960G>A | CA342080322 | FLG | c.3926C>T (p.Pro1309Leu)
| dbSNP |
| 1 | g.152310960G>C | CA1106446 | FLG | c.3926C>G (p.Pro1309Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310960G= | CA1143943468 | FLG | c.3926C= (p.Pro1309=)
| |
| 1 | g.152310960G>T | CA1106447 | FLG | c.3926C>A (p.Pro1309His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310961G>A | CA342080335 | FLG | c.3925C>T (p.Pro1309Ser)
| COSMIC |
| 1 | g.152310961G>C | CA342080338 | FLG | c.3925C>G (p.Pro1309Ala)
| gnomAD v4 |
| 1 | g.152310961G>T | CA342080341 | FLG | c.3925C>A (p.Pro1309Thr)
| |
| 1 | g.152310962G>A | CA1106448 | FLG | c.3924C>T (p.His1308=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310962G>C | CA342080352 | FLG | c.3924C>G (p.His1308Gln)
| |
| 1 | g.152310962G= | CA2479950861 | FLG | c.3924C= (p.His1308=)
| |
| 1 | g.152310962G>T | CA342080349 | FLG | c.3924C>A (p.His1308Gln)
| gnomAD v4 |
| 1 | g.152310963T>A | CA342080361 | FLG | c.3923A>T (p.His1308Leu)
| dbSNP |
| 1 | g.152310963T>C | CA342080363 | FLG | c.3923A>G (p.His1308Arg)
| |
| 1 | g.152310963T>G | CA342080368 | FLG | c.3923A>C (p.His1308Pro)
| |
| 1 | g.152310964G>A | CA342080374 | FLG | c.3922C>T (p.His1308Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310964G>C | CA342080377 | FLG | c.3922C>G (p.His1308Asp)
| |
| 1 | g.152310964G= | CA2479950862 | FLG | c.3922C= (p.His1308=)
| |
| 1 | g.152310964G>T | CA342080379 | FLG | c.3922C>A (p.His1308Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310965T>A | CA342080383 | FLG | c.3921A>T (p.Arg1307Ser)
| |
| 1 | g.152310965T>C | CA420930488 | FLG | c.3921A>G (p.Arg1307=)
| |
| 1 | g.152310965T>G | CA342080388 | FLG | c.3921A>C (p.Arg1307Ser)
| gnomAD v4 |
| 1 | g.152310966C>A | CA342080392 | FLG | c.3920G>T (p.Arg1307Ile)
| gnomAD v4 |
| 1 | g.152310966C>G | CA342080395 | FLG | c.3920G>C (p.Arg1307Thr)
| |
| 1 | g.152310966C>T | CA342080398 | FLG | c.3920G>A (p.Arg1307Lys)
| |
| 1 | g.152310966_152310967insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC | CA2647993610 | FLG | c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG (p.Arg1308HisfsTer19)
| gnomAD v4 |
| 1 | g.152310967T>A | CA342080402 | FLG | c.3919A>T (p.Arg1307Ter)
| |
| 1 | g.152310967T>C | CA342080406 | FLG | c.3919A>G (p.Arg1307Gly)
| gnomAD v4 |
| 1 | g.152310967T>G | CA420930490 | FLG | c.3919A>C (p.Arg1307=)
| |
| 1 | g.152310968G>A | CA420930491 | FLG | c.3918C>T (p.Ser1306=)
| gnomAD v4 |
| 1 | g.152310968G>C | CA420930492 | FLG | c.3918C>G (p.Ser1306=)
| |
| 1 | g.152310968G>T | CA420930493 | FLG | c.3918C>A (p.Ser1306=)
| |
| 1 | g.152310969G>A | CA1106449 | FLG | c.3917C>T (p.Ser1306Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310969G>C | CA1106450 | FLG | c.3917C>G (p.Ser1306Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310969G= | CA2479950864 | FLG | c.3917C= (p.Ser1306=)
| |
| 1 | g.152310969G>T | CA342080416 | FLG | c.3917C>A (p.Ser1306Tyr)
| |
| 1 | g.152310970A= | CA2479950866 | FLG | c.3916T= (p.Ser1306=)
| |
| 1 | g.152310970A>C | CA342080424 | FLG | c.3916T>G (p.Ser1306Ala)
| |
| 1 | g.152310970A>G | CA1106451 | FLG | c.3916T>C (p.Ser1306Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310970A>T | CA342080427 | FLG | c.3916T>A (p.Ser1306Thr)
| |
| 1 | g.152310971G>A | CA420930497 | FLG | c.3915C>T (p.Gly1305=)
| |
| 1 | g.152310971G>C | CA420930498 | FLG | c.3915C>G (p.Gly1305=)
| |
| 1 | g.152310971G>T | CA420930499 | FLG | c.3915C>A (p.Gly1305=)
| |
| 1 | g.152310972C>A | CA342080431 | FLG | c.3914G>T (p.Gly1305Val)
| |
| 1 | g.152310972C= | CA2479950867 | FLG | c.3914G= (p.Gly1305=)
| |
| 1 | g.152310972C>G | CA342080432 | FLG | c.3914G>C (p.Gly1305Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310972C>T | CA342080435 | FLG | c.3914G>A (p.Gly1305Asp)
| |
| 1 | g.152310973C>A | CA342080438 | FLG | c.3913G>T (p.Gly1305Cys)
| |
| 1 | g.152310973C= | CA2479950868 | FLG | c.3913G= (p.Gly1305=)
| |
| 1 | g.152310973C>G | CA342080441 | FLG | c.3913G>C (p.Gly1305Arg)
| |
| 1 | g.152310973C>T | CA1106452 | FLG | c.3913G>A (p.Gly1305Ser)
| dbSNP ExAC COSMIC |
| 1 | g.152310974A>C | CA342080446 | FLG | c.3912T>G (p.Asp1304Glu)
| |
| 1 | g.152310974A>G | CA420930503 | FLG | c.3912T>C (p.Asp1304=)
| gnomAD v4 |
| 1 | g.152310974A>T | CA342080448 | FLG | c.3912T>A (p.Asp1304Glu)
| gnomAD v4 |
| 1 | g.152310975T>A | CA342080454 | FLG | c.3911A>T (p.Asp1304Val)
| |
| 1 | g.152310975T>C | CA1106453 | FLG | c.3911A>G (p.Asp1304Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310975T>G | CA342080451 | FLG | c.3911A>C (p.Asp1304Ala)
| |
| 1 | g.152310975T= | CA2479950870 | FLG | c.3911A= (p.Asp1304=)
| |
| 1 | g.152310976C>A | CA342080462 | FLG | c.3910G>T (p.Asp1304Tyr)
| |
| 1 | g.152310976C= | CA2479950871 | FLG | c.3910G= (p.Asp1304=)
| |
| 1 | g.152310976C>G | CA30556301 | FLG | c.3910G>C (p.Asp1304His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310976C>T | CA1106454 | FLG | c.3910G>A (p.Asp1304Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310977del | CA2647993613 | FLG | c.3909del (p.Asp1304MetfsTer?)
| gnomAD v4 |
| 1 | g.152310977T>A | CA342080464 | FLG | c.3909A>T (p.Arg1303Ser)
| |
| 1 | g.152310977T>C | CA420930505 | FLG | c.3909A>G (p.Arg1303=)
| |
| 1 | g.152310977T>G | CA342080466 | FLG | c.3909A>C (p.Arg1303Ser)
| |
| 1 | g.152310978C>A | CA342080468 | FLG | c.3908G>T (p.Arg1303Ile)
| |
| 1 | g.152310978C= | CA1146650226 | FLG | c.3908G= (p.Arg1303=)
| |
| 1 | g.152310978C>G | CA342080470 | FLG | c.3908G>C (p.Arg1303Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310978C>T | CA1106455 | FLG | c.3908G>A (p.Arg1303Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310979T>A | CA342080475 | FLG | c.3907A>T (p.Arg1303Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310979T>C | CA342080477 | FLG | c.3907A>G (p.Arg1303Gly)
| COSMIC |
| 1 | g.152310979T>G | CA420930509 | FLG | c.3907A>C (p.Arg1303=)
| |
| 1 | g.152310979T= | CA2479950874 | FLG | c.3907A= (p.Arg1303=)
| |
| 1 | g.152310980T>A | CA1106456 | FLG | c.3906A>T (p.Ser1302=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310980T>C | CA420930510 | FLG | c.3906A>G (p.Ser1302=)
| |
| 1 | g.152310980T>G | CA420930511 | FLG | c.3906A>C (p.Ser1302=)
| |
| 1 | g.152310980T= | CA2479950875 | FLG | c.3906A= (p.Ser1302=)
| |
| 1 | g.152310981G>A | CA1106457 | FLG | c.3905C>T (p.Ser1302Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310981G>C | CA342080484 | FLG | c.3905C>G (p.Ser1302Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310981G= | CA2479950879 | FLG | c.3905C= (p.Ser1302=)
| |
| 1 | g.152310981G>T | CA1106458 | FLG | c.3905C>A (p.Ser1302Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310982A= | CA1148722886 | FLG | c.3904T= (p.Ser1302=)
| |
| 1 | g.152310982A>C | CA342080492 | FLG | c.3904T>G (p.Ser1302Ala)
| COSMIC |
| 1 | g.152310982A>G | CA1106459 | FLG | c.3904T>C (p.Ser1302Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310982A>T | CA342080490 | FLG | c.3904T>A (p.Ser1302Thr)
| dbSNP |
| 1 | g.152310983C>A | CA342080494 | FLG | c.3903G>T (p.Gln1301His)
| |
| 1 | g.152310983C= | CA2479950882 | FLG | c.3903G= (p.Gln1301=)
| |
| 1 | g.152310983C>G | CA342080497 | FLG | c.3903G>C (p.Gln1301His)
| |
| 1 | g.152310983C>T | CA1106460 | FLG | c.3903G>A (p.Gln1301=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310984T>A | CA342080501 | FLG | c.3902A>T (p.Gln1301Leu)
| |
| 1 | g.152310984T>C | CA342080503 | FLG | c.3902A>G (p.Gln1301Arg)
| dbSNP gnomAD v4 |
| 1 | g.152310984T>G | CA342080505 | FLG | c.3902A>C (p.Gln1301Pro)
| |
| 1 | g.152310984T= | CA2479950884 | FLG | c.3902A= (p.Gln1301=)
| |
| 1 | g.152310985G>A | CA342080507 | FLG | c.3901C>T (p.Gln1301Ter)
| |
| 1 | g.152310985G>C | CA342080508 | FLG | c.3901C>G (p.Gln1301Glu)
| gnomAD v4 |
| 1 | g.152310985G>T | CA342080509 | FLG | c.3901C>A (p.Gln1301Lys)
| gnomAD v4 |
| 1 | g.152310986C>A | CA342080512 | FLG | c.3900G>T (p.Glu1300Asp)
| COSMIC |
| 1 | g.152310986C= | CA2479950886 | FLG | c.3900G= (p.Glu1300=)
| |
| 1 | g.152310986C>G | CA1106462 | FLG | c.3900G>C (p.Glu1300Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310986C>T | CA1106461 | FLG | c.3900G>A (p.Glu1300=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310987T>A | CA342080522 | FLG | c.3899A>T (p.Glu1300Val)
| gnomAD v4 |
| 1 | g.152310987T>C | CA342080519 | FLG | c.3899A>G (p.Glu1300Gly)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152310987T>G | CA342080517 | FLG | c.3899A>C (p.Glu1300Ala)
| gnomAD v4 |
| 1 | g.152310987T= | CA2479950888 | FLG | c.3899A= (p.Glu1300=)
| |
| 1 | g.152310988C>A | CA342080524 | FLG | c.3898G>T (p.Glu1300Ter)
| |
| 1 | g.152310988C>G | CA342080529 | FLG | c.3898G>C (p.Glu1300Gln)
| gnomAD v4 |
| 1 | g.152310988C>T | CA342080527 | FLG | c.3898G>A (p.Glu1300Lys)
| |
| 1 | g.152310989C>A | CA420930515 | FLG | c.3897G>T (p.Arg1299=)
| |
| 1 | g.152310989C>G | CA420930517 | FLG | c.3897G>C (p.Arg1299=)
| |
| 1 | g.152310989C>T | CA420930516 | FLG | c.3897G>A (p.Arg1299=)
| |
| 1 | g.152310990C>A | CA342080532 | FLG | c.3896G>T (p.Arg1299Leu)
| |
| 1 | g.152310990C= | CA1142352581 | FLG | c.3896G= (p.Arg1299=)
| |
| 1 | g.152310990C>G | CA1106464 | FLG | c.3896G>C (p.Arg1299Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310990C>T | CA1106463 | FLG | c.3896G>A (p.Arg1299Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310991G>A | CA1106466 | FLG | c.3895C>T (p.Arg1299Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310991G>C | CA1106465 | FLG | c.3895C>G (p.Arg1299Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310991G= | CA1143425583 | FLG | c.3895C= (p.Arg1299=)
| |
| 1 | g.152310991G>T | CA420930520 | FLG | c.3895C>A (p.Arg1299=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310992A= | CA2479950890 | FLG | c.3894T= (p.Ser1298=)
| |
| 1 | g.152310992A>C | CA420930521 | FLG | c.3894T>G (p.Ser1298=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310992A>G | CA420930522 | FLG | c.3894T>C (p.Ser1298=)
| |
| 1 | g.152310992A>T | CA420930524 | FLG | c.3894T>A (p.Ser1298=)
| |
| 1 | g.152310993G>A | CA1106467 | FLG | c.3893C>T (p.Ser1298Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310993G>C | CA342080542 | FLG | c.3893C>G (p.Ser1298Cys)
| gnomAD v4 |
| 1 | g.152310993G= | CA2479950892 | FLG | c.3893C= (p.Ser1298=)
| |
| 1 | g.152310993G>T | CA342080544 | FLG | c.3893C>A (p.Ser1298Tyr)
| |
| 1 | g.152310993_152310994delinsGA | CA2479950893 | FLG | c.3892_3893delinsTC (p.Ser1298=)
| |
| 1 | g.152310994A= | CA1141648777 | FLG | c.3892T= (p.Ser1298=)
| |
| 1 | g.152310994A>C | CA1106468 | FLG | c.3892T>G (p.Ser1298Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310994A>G | CA342080548 | FLG | c.3892T>C (p.Ser1298Pro)
| COSMIC |
| 1 | g.152310994A>T | CA342080550 | FLG | c.3892T>A (p.Ser1298Thr)
| gnomAD v4 |
| 1 | g.152310995del | CA645372444 | FLG | c.3892del (p.Ser1298LeufsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310995A>C | CA420930527 | FLG | c.3891T>G (p.Ser1297=)
| gnomAD v4 |
| 1 | g.152310995A>G | CA420930528 | FLG | c.3891T>C (p.Ser1297=)
| |
| 1 | g.152310995A>T | CA420930530 | FLG | c.3891T>A (p.Ser1297=)
| |
| 1 | g.152310996G>A | CA342080557 | FLG | c.3890C>T (p.Ser1297Phe)
| |
| 1 | g.152310996G>C | CA342080554 | FLG | c.3890C>G (p.Ser1297Cys)
| |
| 1 | g.152310996G= | CA1142173833 | FLG | c.3890C= (p.Ser1297=)
| |
| 1 | g.152310996G>T | CA1106469 | FLG | c.3890C>A (p.Ser1297Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
