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 |
1 | g.152311218T>A | CA342081569 | FLG | c.3668A>T (p.Asp1223Val)
| |
1 | g.152311218T>C | CA1106572 | FLG | c.3668A>G (p.Asp1223Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311218T>G | CA342081570 | FLG | c.3668A>C (p.Asp1223Ala)
| |
1 | g.152311218T= | CA1142777801 | FLG | c.3668A= (p.Asp1223=)
| |
1 | g.152311219C>A | CA1106573 | FLG | c.3667G>T (p.Asp1223Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311219C= | CA1148448079 | FLG | c.3667G= (p.Asp1223=)
| |
1 | g.152311219C>G | CA342081571 | FLG | c.3667G>C (p.Asp1223His)
| |
1 | g.152311219C>T | CA342081572 | FLG | c.3667G>A (p.Asp1223Asn)
| |
1 | g.152311219_152311220insATTT | CA2647993635 | FLG | c.3666_3667insAAAT (p.Asp1223LysfsTer2)
| gnomAD v4 |
1 | g.152311220C>A | CA1106574 | FLG | c.3666G>T (p.Lys1222Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311220C= | CA2479951255 | FLG | c.3666G= (p.Lys1222=)
| |
1 | g.152311220C>G | CA1106575 | FLG | c.3666G>C (p.Lys1222Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311220C>T | CA420930447 | FLG | c.3666G>A (p.Lys1222=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152311221T>A | CA342081573 | FLG | c.3665A>T (p.Lys1222Met)
| |
1 | g.152311221T>C | CA342081574 | FLG | c.3665A>G (p.Lys1222Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311221T>G | CA342081575 | FLG | c.3665A>C (p.Lys1222Thr)
| |
1 | g.152311221T= | CA2479951256 | FLG | c.3665A= (p.Lys1222=)
| |
1 | g.152311222T>A | CA342081576 | FLG | c.3664A>T (p.Lys1222Ter)
| |
1 | g.152311222T>C | CA1106576 | FLG | c.3664A>G (p.Lys1222Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311222T>G | CA342081577 | FLG | c.3664A>C (p.Lys1222Gln)
| |
1 | g.152311222T= | CA1143174604 | FLG | c.3664A= (p.Lys1222=)
| |
1 | g.152311222_152311223insGTC | CA2746127707 | FLG | c.3663_3664insGAC (p.Arg1221_Lys1222insAsp)
| |
1 | g.152311223A= | CA2479951257 | FLG | c.3663T= (p.Arg1221=)
| |
1 | g.152311223A>C | CA420930451 | FLG | c.3663T>G (p.Arg1221=)
| |
1 | g.152311223A>G | CA420930452 | FLG | c.3663T>C (p.Arg1221=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152311223A>T | CA420930450 | FLG | c.3663T>A (p.Arg1221=)
| |
1 | g.152311223_152311226del | CA2647993636 | FLG | c.3660_3663del (p.Lys1222ThrfsTer?)
| gnomAD v4 |
1 | g.152311224C>A | CA1106578 | FLG | c.3662G>T (p.Arg1221Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311224C= | CA1143530498 | FLG | c.3662G= (p.Arg1221=)
| |
1 | g.152311224C>G | CA342081578 | FLG | c.3662G>C (p.Arg1221Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152311224C>T | CA1106577 | FLG | c.3662G>A (p.Arg1221His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152311225G>A | CA1106579 | FLG | c.3661C>T (p.Arg1221Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152311225G>C | CA1106580 | FLG | c.3661C>G (p.Arg1221Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311225G= | CA1146185262 | FLG | c.3661C= (p.Arg1221=)
| |
1 | g.152311225G>T | CA342081579 | FLG | c.3661C>A (p.Arg1221Ser)
| |
1 | g.152311226A= | CA2479951258 | FLG | c.3660T= (p.Thr1220=)
| |
1 | g.152311226A>C | CA420930453 | FLG | c.3660T>G (p.Thr1220=)
| gnomAD v4 |
1 | g.152311226A>G | CA420930454 | FLG | c.3660T>C (p.Thr1220=)
| |
1 | g.152311226A>T | CA420930455 | FLG | c.3660T>A (p.Thr1220=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311227G>A | CA342081581 | FLG | c.3659C>T (p.Thr1220Ile)
| |
1 | g.152311227G>C | CA342081582 | FLG | c.3659C>G (p.Thr1220Ser)
| |
1 | g.152311227G>T | CA342081580 | FLG | c.3659C>A (p.Thr1220Asn)
| |
1 | g.152311228T>A | CA342081583 | FLG | c.3658A>T (p.Thr1220Ser)
| |
1 | g.152311228T>C | CA342081584 | FLG | c.3658A>G (p.Thr1220Ala)
| |
1 | g.152311228T>G | CA342081585 | FLG | c.3658A>C (p.Thr1220Pro)
| |
1 | g.152311230del | CA2647993637 | FLG | c.3658del (p.Thr1220LeufsTer?)
| gnomAD v4 |
1 | g.152311229T>A | CA342081586 | FLG | c.3657A>T (p.Gln1219His)
| gnomAD v4 |
1 | g.152311229T>C | CA420930457 | FLG | c.3657A>G (p.Gln1219=)
| |
1 | g.152311229T>G | CA1106581 | FLG | c.3657A>C (p.Gln1219His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311229T= | CA2479951259 | FLG | c.3657A= (p.Gln1219=)
| |
1 | g.152311230T>A | CA342081588 | FLG | c.3656A>T (p.Gln1219Leu)
| |
1 | g.152311230T>C | CA1106582 | FLG | c.3656A>G (p.Gln1219Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311230T>G | CA342081587 | FLG | c.3656A>C (p.Gln1219Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311230T= | CA2479951260 | FLG | c.3656A= (p.Gln1219=)
| |
1 | g.152311231G>A | CA342081589 | FLG | c.3655C>T (p.Gln1219Ter)
| dbSNP gnomAD v4 |
1 | g.152311231G>C | CA342081590 | FLG | c.3655C>G (p.Gln1219Glu)
| COSMIC |
1 | g.152311231G= | CA1144209038 | FLG | c.3655C= (p.Gln1219=)
| |
1 | g.152311231G>T | CA1106583 | FLG | c.3655C>A (p.Gln1219Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311232T>A | CA342081591 | FLG | c.3654A>T (p.Arg1218Ser)
| |
1 | g.152311232T>C | CA420930460 | FLG | c.3654A>G (p.Arg1218=)
| gnomAD v4 |
1 | g.152311232T>G | CA342081592 | FLG | c.3654A>C (p.Arg1218Ser)
| |
1 | g.152311233C>A | CA342081593 | FLG | c.3653G>T (p.Arg1218Ile)
| |
1 | g.152311233C>G | CA342081595 | FLG | c.3653G>C (p.Arg1218Thr)
| |
1 | g.152311233C>T | CA342081594 | FLG | c.3653G>A (p.Arg1218Lys)
| |
1 | g.152311234T>A | CA342081596 | FLG | c.3652A>T (p.Arg1218Ter)
| |
1 | g.152311234T>C | CA342081597 | FLG | c.3652A>G (p.Arg1218Gly)
| gnomAD v4 |
1 | g.152311234T>G | CA420930462 | FLG | c.3652A>C (p.Arg1218=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311234T= | CA2479951261 | FLG | c.3652A= (p.Arg1218=)
| |
1 | g.152311235G>A | CA420930464 | FLG | c.3651C>T (p.Ser1217=)
| |
1 | g.152311235G>C | CA342081598 | FLG | c.3651C>G (p.Ser1217Arg)
| gnomAD v4 |
1 | g.152311235G>T | CA342081599 | FLG | c.3651C>A (p.Ser1217Arg)
| gnomAD v4 |
1 | g.152311236C>A | CA342081600 | FLG | c.3650G>T (p.Ser1217Ile)
| |
1 | g.152311236C>G | CA342081601 | FLG | c.3650G>C (p.Ser1217Thr)
| |
1 | g.152311236C>T | CA342081602 | FLG | c.3650G>A (p.Ser1217Asn)
| |
1 | g.152311237T>A | CA342081603 | FLG | c.3649A>T (p.Ser1217Cys)
| |
1 | g.152311237T>C | CA342081604 | FLG | c.3649A>G (p.Ser1217Gly)
| gnomAD v4 |
1 | g.152311237T>G | CA342081605 | FLG | c.3649A>C (p.Ser1217Arg)
| |
1 | g.152311238dup | CA2647993638 | FLG | c.3649dup (p.Ser1217LysfsTer6)
| gnomAD v4 |
1 | g.152311238T>A | CA420930466 | FLG | c.3648A>T (p.Ala1216=)
| |
1 | g.152311238T>C | CA420930467 | FLG | c.3648A>G (p.Ala1216=)
| |
1 | g.152311238T>G | CA1106584 | FLG | c.3648A>C (p.Ala1216=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311238T= | CA2479951262 | FLG | c.3648A= (p.Ala1216=)
| |
1 | g.152311239G>A | CA1106585 | FLG | c.3647C>T (p.Ala1216Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311239G>C | CA342081606 | FLG | c.3647C>G (p.Ala1216Gly)
| |
1 | g.152311239G= | CA2479951263 | FLG | c.3647C= (p.Ala1216=)
| |
1 | g.152311239G>T | CA342081607 | FLG | c.3647C>A (p.Ala1216Glu)
| |
1 | g.152311240C>A | CA342081610 | FLG | c.3646G>T (p.Ala1216Ser)
| |
1 | g.152311240C>G | CA342081608 | FLG | c.3646G>C (p.Ala1216Pro)
| gnomAD v4 |
1 | g.152311240C>T | CA342081609 | FLG | c.3646G>A (p.Ala1216Thr)
| dbSNP |
1 | g.152311241A= | CA1142262440 | FLG | c.3645T= (p.Ser1215=)
| |
1 | g.152311241A>C | CA342081611 | FLG | c.3645T>G (p.Ser1215Arg)
| gnomAD v4 |
1 | g.152311241A>G | CA1106586 | FLG | c.3645T>C (p.Ser1215=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311241A>T | CA342081612 | FLG | c.3645T>A (p.Ser1215Arg)
| |
1 | g.152311242C>A | CA342081613 | FLG | c.3644G>T (p.Ser1215Ile)
| |
1 | g.152311242C>G | CA342081614 | FLG | c.3644G>C (p.Ser1215Thr)
| |
1 | g.152311242C>T | CA342081615 | FLG | c.3644G>A (p.Ser1215Asn)
| gnomAD v4 |
1 | g.152311243T>A | CA342081616 | FLG | c.3643A>T (p.Ser1215Cys)
| |
1 | g.152311243T>C | CA342081617 | FLG | c.3643A>G (p.Ser1215Gly)
| dbSNP COSMIC |
1 | g.152311243T>G | CA342081618 | FLG | c.3643A>C (p.Ser1215Arg)
| COSMIC |
1 | g.152311243T= | CA2479951264 | FLG | c.3643A= (p.Ser1215=)
| |
1 | g.152311244T>A | CA342081619 | FLG | c.3642A>T (p.Arg1214Ser)
| |
1 | g.152311244T>C | CA420930470 | FLG | c.3642A>G (p.Arg1214=)
| |
1 | g.152311244T>G | CA342081620 | FLG | c.3642A>C (p.Arg1214Ser)
| |
1 | g.152311245C>A | CA1106587 | FLG | c.3641G>T (p.Arg1214Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311245C= | CA2479951265 | FLG | c.3641G= (p.Arg1214=)
| |
1 | g.152311245C>G | CA342081622 | FLG | c.3641G>C (p.Arg1214Thr)
| gnomAD v4 |
1 | g.152311245C>T | CA342081621 | FLG | c.3641G>A (p.Arg1214Lys)
| |
1 | g.152311246T>A | CA342081623 | FLG | c.3640A>T (p.Arg1214Ter)
| |
1 | g.152311246T>C | CA342081624 | FLG | c.3640A>G (p.Arg1214Gly)
| |
1 | g.152311246T>G | CA420930472 | FLG | c.3640A>C (p.Arg1214=)
| |
1 | g.152311247G>A | CA1106588 | FLG | c.3639C>T (p.Ser1213=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311247G>C | CA420930473 | FLG | c.3639C>G (p.Ser1213=)
| |
1 | g.152311247G= | CA2479951266 | FLG | c.3639C= (p.Ser1213=)
| |
1 | g.152311247G>T | CA420930474 | FLG | c.3639C>A (p.Ser1213=)
| |
1 | g.152311248G>A | CA342081625 | FLG | c.3638C>T (p.Ser1213Phe)
| |
1 | g.152311248G>C | CA342081626 | FLG | c.3638C>G (p.Ser1213Cys)
| gnomAD v4 COSMIC |
1 | g.152311248G>T | CA342081627 | FLG | c.3638C>A (p.Ser1213Tyr)
| gnomAD v4 |
1 | g.152311249A= | CA2479951267 | FLG | c.3637T= (p.Ser1213=)
| |
1 | g.152311249A>C | CA342081628 | FLG | c.3637T>G (p.Ser1213Ala)
| |
1 | g.152311249A>G | CA1106589 | FLG | c.3637T>C (p.Ser1213Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311249A>T | CA1106590 | FLG | c.3637T>A (p.Ser1213Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311250T>A | CA420930476 | FLG | c.3636A>T (p.Gly1212=)
| |
1 | g.152311250T>C | CA420930477 | FLG | c.3636A>G (p.Gly1212=)
| |
1 | g.152311250T>G | CA420930478 | FLG | c.3636A>C (p.Gly1212=)
| |
1 | g.152311251C>A | CA342081629 | FLG | c.3635G>T (p.Gly1212Val)
| gnomAD v4 |
1 | g.152311251C>G | CA342081630 | FLG | c.3635G>C (p.Gly1212Ala)
| |
1 | g.152311251C>T | CA342081631 | FLG | c.3635G>A (p.Gly1212Glu)
| gnomAD v4 COSMIC |
1 | g.152311252C>A | CA342081633 | FLG | c.3634G>T (p.Gly1212Ter)
| |
1 | g.152311252C= | CA2479951268 | FLG | c.3634G= (p.Gly1212=)
| |
1 | g.152311252C>G | CA1106591 | FLG | c.3634G>C (p.Gly1212Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152311252C>T | CA342081632 | FLG | c.3634G>A (p.Gly1212Arg)
| |
1 | g.152311253T>A | CA420930481 | FLG | c.3633A>T (p.Ser1211=)
| |
1 | g.152311253T>C | CA420930482 | FLG | c.3633A>G (p.Ser1211=)
| dbSNP gnomAD v4 |
1 | g.152311253T>G | CA420930483 | FLG | c.3633A>C (p.Ser1211=)
| |
1 | g.152311253T= | CA2479951269 | FLG | c.3633A= (p.Ser1211=)
| |
1 | g.152311254G>A | CA342081634 | FLG | c.3632C>T (p.Ser1211Leu)
| dbSNP |
1 | g.152311254G>C | CA342081635 | FLG | c.3632C>G (p.Ser1211Ter)
| |
1 | g.152311254G= | CA2479951270 | FLG | c.3632C= (p.Ser1211=)
| |
1 | g.152311254G>T | CA342081636 | FLG | c.3632C>A (p.Ser1211Ter)
| dbSNP gnomAD v4 |
1 | g.152311255A>C | CA342081637 | FLG | c.3631T>G (p.Ser1211Ala)
| |
1 | g.152311255A>G | CA342081638 | FLG | c.3631T>C (p.Ser1211Pro)
| |
1 | g.152311255A>T | CA342081639 | FLG | c.3631T>A (p.Ser1211Thr)
| |
1 | g.152311256C>A | CA1106592 | FLG | c.3630G>T (p.Gln1210His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152311256C= | CA1143765729 | FLG | c.3630G= (p.Gln1210=)
| |
1 | g.152311256C>G | CA1106593 | FLG | c.3630G>C (p.Gln1210His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311256C>T | CA420930485 | FLG | c.3630G>A (p.Gln1210=)
| |
1 | g.152311257T>A | CA342081640 | FLG | c.3629A>T (p.Gln1210Leu)
| |
1 | g.152311257T>C | CA1106594 | FLG | c.3629A>G (p.Gln1210Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311257T>G | CA342081641 | FLG | c.3629A>C (p.Gln1210Pro)
| dbSNP gnomAD v4 |
1 | g.152311257T= | CA2479951271 | FLG | c.3629A= (p.Gln1210=)
| |
1 | g.152311258G>A | CA342081644 | FLG | c.3628C>T (p.Gln1210Ter)
| dbSNP gnomAD v4 |
1 | g.152311258G>C | CA342081643 | FLG | c.3628C>G (p.Gln1210Glu)
| gnomAD v4 |
1 | g.152311258G= | CA2479951272 | FLG | c.3628C= (p.Gln1210=)
| |
1 | g.152311258G>T | CA342081642 | FLG | c.3628C>A (p.Gln1210Lys)
| |
1 | g.152311259C>A | CA420930487 | FLG | c.3627G>T (p.Gly1209=)
| |
1 | g.152311259C= | CA2479951273 | FLG | c.3627G= (p.Gly1209=)
| |
1 | g.152311259C>G | CA1106595 | FLG | c.3627G>C (p.Gly1209=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152311259C>T | CA420930486 | FLG | c.3627G>A (p.Gly1209=)
| gnomAD v4 |
1 | g.152311261dup | CA2697298838 | FLG | c.3627dup (p.Gln1210AlafsTer13)
| dbSNP |
1 | g.152311260C>A | CA342081646 | FLG | c.3626G>T (p.Gly1209Val)
| gnomAD v4 |
1 | g.152311260C= | CA2479951274 | FLG | c.3626G= (p.Gly1209=)
| |
1 | g.152311260C>G | CA342081645 | FLG | c.3626G>C (p.Gly1209Ala)
| |
1 | g.152311260C>T | CA342081647 | FLG | c.3626G>A (p.Gly1209Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152311261C>A | CA342081648 | FLG | c.3625G>T (p.Gly1209Trp)
| gnomAD v4 |
1 | g.152311261C>G | CA342081649 | FLG | c.3625G>C (p.Gly1209Arg)
| |
1 | g.152311261C>T | CA342081650 | FLG | c.3625G>A (p.Gly1209Arg)
| |
1 | g.152311262A= | CA2479951275 | FLG | c.3624T= (p.His1208=)
| |
1 | g.152311262A>C | CA342081651 | FLG | c.3624T>G (p.His1208Gln)
| |
1 | g.152311262A>G | CA420930489 | FLG | c.3624T>C (p.His1208=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152311262A>T | CA342081652 | FLG | c.3624T>A (p.His1208Gln)
| COSMIC |