UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152304538_152304642del | CA1103390 | FLG | c.10251_10355del (p.Ala3418_Gln3452del) c.9109-802_9109-698del (n.9109-802_9109-698del) | ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304535_152304541dup | CA2647993504 | FLG | c.10345_10351dup (p.Glu3451AlafsTer8) c.9109-708_9109-702dup (n.9109-708_9109-702dup) | gnomAD v4 |
| 1 | g.152304538A= | CA1143472838 | FLG | c.10348T= (p.Tyr3450=) c.9109-705T= (n.9109-705T=) | |
| 1 | g.152304538A>C | CA342070697 | FLG | c.10348T>G (p.Tyr3450Asp) c.9109-705T>G (n.9109-705T>G) | |
| 1 | g.152304538A>G | CA1103398 | FLG | c.10348T>C (p.Tyr3450His) c.9109-705T>C (n.9109-705T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304538A>T | CA342070710 | FLG | c.10348T>A (p.Tyr3450Asn) c.9109-705T>A (n.9109-705T>A) | |
| 1 | g.152304539G>A | CA30601005 | FLG | c.10347C>T (p.His3449=) c.9109-706C>T (n.9109-706C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304539G>C | CA1103399 | FLG | c.10347C>G (p.His3449Gln) c.9109-706C>G (n.9109-706C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304539G= | CA2479947497 | FLG | c.10347C= (p.His3449=) c.9109-706C= (n.9109-706C=) | |
| 1 | g.152304539G>T | CA342070717 | FLG | c.10347C>A (p.His3449Gln) c.9109-706C>A (n.9109-706C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304540T>A | CA342070722 | FLG | c.10346A>T (p.His3449Leu) c.9109-707A>T (n.9109-707A>T) | |
| 1 | g.152304540T>C | CA30601007 | FLG | c.10346A>G (p.His3449Arg) c.9109-707A>G (n.9109-707A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304540T>G | CA342070728 | FLG | c.10346A>C (p.His3449Pro) c.9109-707A>C (n.9109-707A>C) | |
| 1 | g.152304540T= | CA1145117378 | FLG | c.10346A= (p.His3449=) c.9109-707A= (n.9109-707A=) | |
| 1 | g.152304541G>A | CA1103400 | FLG | c.10345C>T (p.His3449Tyr) c.9109-708C>T (n.9109-708C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304541G>C | CA342070742 | FLG | c.10345C>G (p.His3449Asp) c.9109-708C>G (n.9109-708C>G) | |
| 1 | g.152304541G= | CA2479947498 | FLG | c.10345C= (p.His3449=) c.9109-708C= (n.9109-708C=) | |
| 1 | g.152304541G>T | CA342070743 | FLG | c.10345C>A (p.His3449Asn) c.9109-708C>A (n.9109-708C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304542G>A | CA1103401 | FLG | c.10344C>T (p.Ser3448=) c.9109-709C>T (n.9109-709C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304542G>C | CA420926850 | FLG | c.10344C>G (p.Ser3448=) c.9109-709C>G (n.9109-709C>G) | |
| 1 | g.152304542G= | CA2479947499 | FLG | c.10344C= (p.Ser3448=) c.9109-709C= (n.9109-709C=) | |
| 1 | g.152304542G>T | CA420926848 | FLG | c.10344C>A (p.Ser3448=) c.9109-709C>A (n.9109-709C>A) | |
| 1 | g.152304543G>A | CA342070751 | FLG | c.10343C>T (p.Ser3448Phe) c.9109-710C>T (n.9109-710C>T) | |
| 1 | g.152304543G>C | CA342070745 | FLG | c.10343C>G (p.Ser3448Cys) c.9109-710C>G (n.9109-710C>G) | |
| 1 | g.152304543G= | CA2479947500 | FLG | c.10343C= (p.Ser3448=) c.9109-710C= (n.9109-710C=) | |
| 1 | g.152304543G>T | CA1103402 | FLG | c.10343C>A (p.Ser3448Tyr) c.9109-710C>A (n.9109-710C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304545_152304568del | CA2604727343 | FLG | c.10320_10343del (p.Ser3441_Ser3448del) c.9109-733_9109-710del (n.9109-733_9109-710del) | gnomAD v3 gnomAD v4 |
| 1 | g.152304544A>C | CA342070753 | FLG | c.10342T>G (p.Ser3448Ala) c.9109-711T>G (n.9109-711T>G) | |
| 1 | g.152304544A>G | CA342070755 | FLG | c.10342T>C (p.Ser3448Pro) c.9109-711T>C (n.9109-711T>C) | |
| 1 | g.152304544A>T | CA342070764 | FLG | c.10342T>A (p.Ser3448Thr) c.9109-711T>A (n.9109-711T>A) | gnomAD v4 |
| 1 | g.152304545T>A | CA1103404 | FLG | c.10341A>T (p.Gly3447=) c.9109-712A>T (n.9109-712A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304545T>C | CA1103403 | FLG | c.10341A>G (p.Gly3447=) c.9109-712A>G (n.9109-712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304545T>G | CA420926856 | FLG | c.10341A>C (p.Gly3447=) c.9109-712A>C (n.9109-712A>C) | |
| 1 | g.152304545T= | CA1143530501 | FLG | c.10341A= (p.Gly3447=) c.9109-712A= (n.9109-712A=) | |
| 1 | g.152304545_152304548delinsTCCC | CA2479947501 | FLG | c.10338_10341delinsGGGA (p.Gln3446=) c.9109-715_9109-712delinsGGGA (n.9109-715_9109-712delinsGGGA) | |
| 1 | g.152304546C>A | CA342070776 | FLG | c.10340G>T (p.Gly3447Val) c.9109-713G>T (n.9109-713G>T) | |
| 1 | g.152304546C= | CA1141600138 | FLG | c.10340G= (p.Gly3447=) c.9109-713G= (n.9109-713G=) | |
| 1 | g.152304546C>G | CA342070781 | FLG | c.10340G>C (p.Gly3447Ala) c.9109-713G>C (n.9109-713G>C) | |
| 1 | g.152304546C>T | CA1103405 | FLG | c.10340G>A (p.Gly3447Glu) c.9109-713G>A (n.9109-713G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304546_152304548del | CA2479947502 | FLG | c.10338_10340del (p.Gly3447del) c.9109-715_9109-713del (n.9109-715_9109-713del) | dbSNP |
| 1 | g.152304547C>A | CA342070789 | FLG | c.10339G>T (p.Gly3447Ter) c.9109-714G>T (n.9109-714G>T) | gnomAD v4 |
| 1 | g.152304547C= | CA1143533505 | FLG | c.10339G= (p.Gly3447=) c.9109-714G= (n.9109-714G=) | |
| 1 | g.152304547C>G | CA342070796 | FLG | c.10339G>C (p.Gly3447Arg) c.9109-714G>C (n.9109-714G>C) | |
| 1 | g.152304547C>T | CA1103406 | FLG | c.10339G>A (p.Gly3447Arg) c.9109-714G>A (n.9109-714G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304548C>A | CA342070809 | FLG | c.10338G>T (p.Gln3446His) c.9109-715G>T (n.9109-715G>T) | |
| 1 | g.152304548C= | CA2479947503 | FLG | c.10338G= (p.Gln3446=) c.9109-715G= (n.9109-715G=) | |
| 1 | g.152304548C>G | CA342070824 | FLG | c.10338G>C (p.Gln3446His) c.9109-715G>C (n.9109-715G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304548C>T | CA420926858 | FLG | c.10338G>A (p.Gln3446=) c.9109-715G>A (n.9109-715G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304549T>A | CA342070831 | FLG | c.10337A>T (p.Gln3446Leu) c.9109-716A>T (n.9109-716A>T) | dbSNP |
| 1 | g.152304549T>C | CA342070838 | FLG | c.10337A>G (p.Gln3446Arg) c.9109-716A>G (n.9109-716A>G) | |
| 1 | g.152304549T>G | CA342070840 | FLG | c.10337A>C (p.Gln3446Pro) c.9109-716A>C (n.9109-716A>C) | |
| 1 | g.152304549T= | CA2479947504 | FLG | c.10337A= (p.Gln3446=) c.9109-716A= (n.9109-716A=) | |
| 1 | g.152304550G>A | CA342070843 | FLG | c.10336C>T (p.Gln3446Ter) c.9109-717C>T (n.9109-717C>T) | |
| 1 | g.152304550G>C | CA1103407 | FLG | c.10336C>G (p.Gln3446Glu) c.9109-717C>G (n.9109-717C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304550G= | CA1148463048 | FLG | c.10336C= (p.Gln3446=) c.9109-717C= (n.9109-717C=) | |
| 1 | g.152304550G>T | CA342070844 | FLG | c.10336C>A (p.Gln3446Lys) c.9109-717C>A (n.9109-717C>A) | COSMIC |
| 1 | g.152304551C>A | CA342070845 | FLG | c.10335G>T (p.Arg3445Ser) c.9109-718G>T (n.9109-718G>T) | |
| 1 | g.152304551C= | CA1147349798 | FLG | c.10335G= (p.Arg3445=) c.9109-718G= (n.9109-718G=) | |
| 1 | g.152304551C>G | CA1103408 | FLG | c.10335G>C (p.Arg3445Ser) c.9109-718G>C (n.9109-718G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304551C>T | CA1103409 | FLG | c.10335G>A (p.Arg3445=) c.9109-718G>A (n.9109-718G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304552del | CA2647993506 | FLG | c.10335del (p.Arg3445SerfsTer10) c.9109-718del (n.9109-718del) | gnomAD v4 |
| 1 | g.152304552C>A | CA342070864 | FLG | c.10334G>T (p.Arg3445Met) c.9109-719G>T (n.9109-719G>T) | |
| 1 | g.152304552C= | CA2479947505 | FLG | c.10334G= (p.Arg3445=) c.9109-719G= (n.9109-719G=) | |
| 1 | g.152304552C>G | CA342070867 | FLG | c.10334G>C (p.Arg3445Thr) c.9109-719G>C (n.9109-719G>C) | |
| 1 | g.152304552C>T | CA342070869 | FLG | c.10334G>A (p.Arg3445Lys) c.9109-719G>A (n.9109-719G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304553T>A | CA342070879 | FLG | c.10333A>T (p.Arg3445Trp) c.9109-720A>T (n.9109-720A>T) | gnomAD v4 |
| 1 | g.152304553T>C | CA342070873 | FLG | c.10333A>G (p.Arg3445Gly) c.9109-720A>G (n.9109-720A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304553T>G | CA420926875 | FLG | c.10333A>C (p.Arg3445=) c.9109-720A>C (n.9109-720A>C) | |
| 1 | g.152304553T= | CA2479947506 | FLG | c.10333A= (p.Arg3445=) c.9109-720A= (n.9109-720A=) | |
| 1 | g.152304554T>A | CA420926877 | FLG | c.10332A>T (p.Gly3444=) c.9109-721A>T (n.9109-721A>T) | |
| 1 | g.152304554T>C | CA420926878 | FLG | c.10332A>G (p.Gly3444=) c.9109-721A>G (n.9109-721A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304554T>G | CA420926879 | FLG | c.10332A>C (p.Gly3444=) c.9109-721A>C (n.9109-721A>C) | |
| 1 | g.152304554T= | CA2479947507 | FLG | c.10332A= (p.Gly3444=) c.9109-721A= (n.9109-721A=) | |
| 1 | g.152304554_152304555delinsAT | CA645537913 | FLG | c.10331_10332delinsAT (p.Gly3444Asp) c.9109-722_9109-721delinsAT (n.9109-722_9109-721delinsAT) | COSMIC |
| 1 | g.152304555C>A | CA1103410 | FLG | c.10331G>T (p.Gly3444Val) c.9109-722G>T (n.9109-722G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304555C= | CA2479947508 | FLG | c.10331G= (p.Gly3444=) c.9109-722G= (n.9109-722G=) | |
| 1 | g.152304555C>G | CA1103411 | FLG | c.10331G>C (p.Gly3444Ala) c.9109-722G>C (n.9109-722G>C) | dbSNP ExAC gnomAD v4 |
| 1 | g.152304555C>T | CA342070890 | FLG | c.10331G>A (p.Gly3444Glu) c.9109-722G>A (n.9109-722G>A) | gnomAD v4 COSMIC |
| 1 | g.152304556C>A | CA342070893 | FLG | c.10330G>T (p.Gly3444Ter) c.9109-723G>T (n.9109-723G>T) | gnomAD v4 |
| 1 | g.152304556C= | CA2479947509 | FLG | c.10330G= (p.Gly3444=) c.9109-723G= (n.9109-723G=) | |
| 1 | g.152304556C>G | CA342070897 | FLG | c.10330G>C (p.Gly3444Arg) c.9109-723G>C (n.9109-723G>C) | |
| 1 | g.152304556C>T | CA342070903 | FLG | c.10330G>A (p.Gly3444Arg) c.9109-723G>A (n.9109-723G>A) | dbSNP gnomAD v4 |
| 1 | g.152304557T>A | CA1103412 | FLG | c.10329A>T (p.Arg3443Ser) c.9109-724A>T (n.9109-724A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304557T>C | CA30601079 | FLG | c.10329A>G (p.Arg3443=) c.9109-724A>G (n.9109-724A>G) | dbSNP gnomAD v2 |
| 1 | g.152304557T>G | CA342070920 | FLG | c.10329A>C (p.Arg3443Ser) c.9109-724A>C (n.9109-724A>C) | |
| 1 | g.152304557T= | CA2479947510 | FLG | c.10329A= (p.Arg3443=) c.9109-724A= (n.9109-724A=) | |
| 1 | g.152304558del | CA2647993507 | FLG | c.10328del (p.Arg3443LysfsTer12) c.9109-725del (n.9109-725del) | gnomAD v4 |
| 1 | g.152304558C>A | CA1103413 | FLG | c.10328G>T (p.Arg3443Ile) c.9109-725G>T (n.9109-725G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304558C= | CA2479947511 | FLG | c.10328G= (p.Arg3443=) c.9109-725G= (n.9109-725G=) | |
| 1 | g.152304558C>G | CA342070925 | FLG | c.10328G>C (p.Arg3443Thr) c.9109-725G>C (n.9109-725G>C) | |
| 1 | g.152304558C>T | CA1103414 | FLG | c.10328G>A (p.Arg3443Lys) c.9109-725G>A (n.9109-725G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304559T>A | CA342070933 | FLG | c.10327A>T (p.Arg3443Ter) c.9109-726A>T (n.9109-726A>T) | |
| 1 | g.152304559T>C | CA1103415 | FLG | c.10327A>G (p.Arg3443Gly) c.9109-726A>G (n.9109-726A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304559T>G | CA420926882 | FLG | c.10327A>C (p.Arg3443=) c.9109-726A>C (n.9109-726A>C) | gnomAD v4 |
| 1 | g.152304559T= | CA1146292040 | FLG | c.10327A= (p.Arg3443=) c.9109-726A= (n.9109-726A=) | |
| 1 | g.152304560T>A | CA1103416 | FLG | c.10326A>T (p.Arg3442Ser) c.9109-727A>T (n.9109-727A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304560T>C | CA420926883 | FLG | c.10326A>G (p.Arg3442=) c.9109-727A>G (n.9109-727A>G) | |
| 1 | g.152304560T>G | CA342070938 | FLG | c.10326A>C (p.Arg3442Ser) c.9109-727A>C (n.9109-727A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304560T= | CA1147834764 | FLG | c.10326A= (p.Arg3442=) c.9109-727A= (n.9109-727A=) | |
| 1 | g.152304561C>A | CA342070940 | FLG | c.10325G>T (p.Arg3442Ile) c.9109-728G>T (n.9109-728G>T) | |
| 1 | g.152304561C>G | CA342070944 | FLG | c.10325G>C (p.Arg3442Thr) c.9109-728G>C (n.9109-728G>C) | |
| 1 | g.152304561C>T | CA342070941 | FLG | c.10325G>A (p.Arg3442Lys) c.9109-728G>A (n.9109-728G>A) | gnomAD v4 COSMIC |
| 1 | g.152304562T>A | CA1103417 | FLG | c.10324A>T (p.Arg3442Ter) c.9109-729A>T (n.9109-729A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304562T>C | CA342070947 | FLG | c.10324A>G (p.Arg3442Gly) c.9109-729A>G (n.9109-729A>G) | |
| 1 | g.152304562T>G | CA420926884 | FLG | c.10324A>C (p.Arg3442=) c.9109-729A>C (n.9109-729A>C) | COSMIC |
| 1 | g.152304562T= | CA2479947512 | FLG | c.10324A= (p.Arg3442=) c.9109-729A= (n.9109-729A=) | |
| 1 | g.152304563G>A | CA420926885 | FLG | c.10323C>T (p.Ser3441=) c.9109-730C>T (n.9109-730C>T) | gnomAD v4 |
| 1 | g.152304563G>C | CA342070949 | FLG | c.10323C>G (p.Ser3441Arg) c.9109-730C>G (n.9109-730C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304563G= | CA2479947513 | FLG | c.10323C= (p.Ser3441=) c.9109-730C= (n.9109-730C=) | |
| 1 | g.152304563G>T | CA30601099 | FLG | c.10323C>A (p.Ser3441Arg) c.9109-730C>A (n.9109-730C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304564C>A | CA342070953 | FLG | c.10322G>T (p.Ser3441Ile) c.9109-731G>T (n.9109-731G>T) | |
| 1 | g.152304564C>G | CA342070956 | FLG | c.10322G>C (p.Ser3441Thr) c.9109-731G>C (n.9109-731G>C) | |
| 1 | g.152304564C>T | CA342070960 | FLG | c.10322G>A (p.Ser3441Asn) c.9109-731G>A (n.9109-731G>A) | |
| 1 | g.152304565T>A | CA342070964 | FLG | c.10321A>T (p.Ser3441Cys) c.9109-732A>T (n.9109-732A>T) | |
| 1 | g.152304565T>C | CA342070966 | FLG | c.10321A>G (p.Ser3441Gly) c.9109-732A>G (n.9109-732A>G) | |
| 1 | g.152304565T>G | CA342070968 | FLG | c.10321A>C (p.Ser3441Arg) c.9109-732A>C (n.9109-732A>C) | |
| 1 | g.152304566T>A | CA420926886 | FLG | c.10320A>T (p.Ser3440=) c.9109-733A>T (n.9109-733A>T) | |
| 1 | g.152304566T>C | CA420926888 | FLG | c.10320A>G (p.Ser3440=) c.9109-733A>G (n.9109-733A>G) | |
| 1 | g.152304566T>G | CA420926887 | FLG | c.10320A>C (p.Ser3440=) c.9109-733A>C (n.9109-733A>C) | |
| 1 | g.152304567G>A | CA342070971 | FLG | c.10319C>T (p.Ser3440Leu) c.9109-734C>T (n.9109-734C>T) | |
| 1 | g.152304567G>C | CA1103418 | FLG | c.10319C>G (p.Ser3440Ter) c.9109-734C>G (n.9109-734C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304567G= | CA2479947514 | FLG | c.10319C= (p.Ser3440=) c.9109-734C= (n.9109-734C=) | |
| 1 | g.152304567G>T | CA342070977 | FLG | c.10319C>A (p.Ser3440Ter) c.9109-734C>A (n.9109-734C>A) | gnomAD v4 |
| 1 | g.152304568A= | CA1143428424 | FLG | c.10318T= (p.Ser3440=) c.9109-735T= (n.9109-735T=) | |
| 1 | g.152304568A>C | CA342070984 | FLG | c.10318T>G (p.Ser3440Ala) c.9109-735T>G (n.9109-735T>G) | gnomAD v3 gnomAD v4 |
| 1 | g.152304568A>G | CA1103419 | FLG | c.10318T>C (p.Ser3440Pro) c.9109-735T>C (n.9109-735T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304568A>T | CA1103420 | FLG | c.10318T>A (p.Ser3440Thr) c.9109-735T>A (n.9109-735T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304569C>A | CA420926889 | FLG | c.10317G>T (p.Gly3439=) c.9109-736G>T (n.9109-736G>T) | gnomAD v4 |
| 1 | g.152304569C= | CA2479947515 | FLG | c.10317G= (p.Gly3439=) c.9109-736G= (n.9109-736G=) | |
| 1 | g.152304569C>G | CA420926890 | FLG | c.10317G>C (p.Gly3439=) c.9109-736G>C (n.9109-736G>C) | |
| 1 | g.152304569C>T | CA420926891 | FLG | c.10317G>A (p.Gly3439=) c.9109-736G>A (n.9109-736G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304570C>A | CA342070988 | FLG | c.10316G>T (p.Gly3439Val) c.9109-737G>T (n.9109-737G>T) | gnomAD v4 COSMIC |
| 1 | g.152304570C>G | CA342070989 | FLG | c.10316G>C (p.Gly3439Ala) c.9109-737G>C (n.9109-737G>C) | |
| 1 | g.152304570C>T | CA342070990 | FLG | c.10316G>A (p.Gly3439Glu) c.9109-737G>A (n.9109-737G>A) | gnomAD v4 COSMIC |
| 1 | g.152304571C>A | CA342070993 | FLG | c.10315G>T (p.Gly3439Trp) c.9109-738G>T (n.9109-738G>T) | |
| 1 | g.152304571C>G | CA342070997 | FLG | c.10315G>C (p.Gly3439Arg) c.9109-738G>C (n.9109-738G>C) | gnomAD v4 |
| 1 | g.152304571C>T | CA342071002 | FLG | c.10315G>A (p.Gly3439Arg) c.9109-738G>A (n.9109-738G>A) | COSMIC |
| 1 | g.152304572C>A | CA420926892 | FLG | c.10314G>T (p.Pro3438=) c.9109-739G>T (n.9109-739G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304572C= | CA1139986941 | FLG | c.10314G= (p.Pro3438=) c.9109-739G= (n.9109-739G=) | |
| 1 | g.152304572C>G | CA1103421 | FLG | c.10314G>C (p.Pro3438=) c.9109-739G>C (n.9109-739G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304572C>T | CA1103422 | FLG | c.10314G>A (p.Pro3438=) c.9109-739G>A (n.9109-739G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304573G>A | CA1103423 | FLG | c.10313C>T (p.Pro3438Leu) c.9109-740C>T (n.9109-740C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304573G>C | CA342071009 | FLG | c.10313C>G (p.Pro3438Arg) c.9109-740C>G (n.9109-740C>G) | gnomAD v4 |
| 1 | g.152304573G= | CA1143827677 | FLG | c.10313C= (p.Pro3438=) c.9109-740C= (n.9109-740C=) | |
| 1 | g.152304573G>T | CA342071010 | FLG | c.10313C>A (p.Pro3438Gln) c.9109-740C>A (n.9109-740C>A) | |
| 1 | g.152304573_152304653del | CA2604727345 | FLG | c.10233_10313del (p.Gly3412_Pro3438del) c.9109-820_9109-740del (n.9109-820_9109-740del) | gnomAD v3 gnomAD v4 |
| 1 | g.152304574G>A | CA1103425 | FLG | c.10312C>T (p.Pro3438Ser) c.9109-741C>T (n.9109-741C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304574G>C | CA342071014 | FLG | c.10312C>G (p.Pro3438Ala) c.9109-741C>G (n.9109-741C>G) | gnomAD v4 |
| 1 | g.152304574G= | CA1143592622 | FLG | c.10312C= (p.Pro3438=) c.9109-741C= (n.9109-741C=) | |
| 1 | g.152304574G>T | CA1103424 | FLG | c.10312C>A (p.Pro3438Thr) c.9109-741C>A (n.9109-741C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304575G>A | CA420926893 | FLG | c.10311C>T (p.His3437=) c.9109-742C>T (n.9109-742C>T) | |
| 1 | g.152304575G>C | CA342071015 | FLG | c.10311C>G (p.His3437Gln) c.9109-742C>G (n.9109-742C>G) | |
| 1 | g.152304575G>T | CA342071017 | FLG | c.10311C>A (p.His3437Gln) c.9109-742C>A (n.9109-742C>A) | |
| 1 | g.152304576T>A | CA342071022 | FLG | c.10310A>T (p.His3437Leu) c.9109-743A>T (n.9109-743A>T) | |
| 1 | g.152304576T>C | CA342071024 | FLG | c.10310A>G (p.His3437Arg) c.9109-743A>G (n.9109-743A>G) | |
| 1 | g.152304576T>G | CA342071026 | FLG | c.10310A>C (p.His3437Pro) c.9109-743A>C (n.9109-743A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304577G>A | CA342071041 | FLG | c.10309C>T (p.His3437Tyr) c.9109-744C>T (n.9109-744C>T) | |
| 1 | g.152304577G>C | CA342071043 | FLG | c.10309C>G (p.His3437Asp) c.9109-744C>G (n.9109-744C>G) | |
| 1 | g.152304577G>T | CA342071045 | FLG | c.10309C>A (p.His3437Asn) c.9109-744C>A (n.9109-744C>A) | |
| 1 | g.152304578T>A | CA420926894 | FLG | c.10308A>T (p.Gly3436=) c.9109-745A>T (n.9109-745A>T) | |
| 1 | g.152304578T>C | CA420926895 | FLG | c.10308A>G (p.Gly3436=) c.9109-745A>G (n.9109-745A>G) | |
| 1 | g.152304578T>G | CA420926896 | FLG | c.10308A>C (p.Gly3436=) c.9109-745A>C (n.9109-745A>C) | |
| 1 | g.152304579C>A | CA342071049 | FLG | c.10307G>T (p.Gly3436Val) c.9109-746G>T (n.9109-746G>T) | |
| 1 | g.152304579C= | CA1139911795 | FLG | c.10307G= (p.Gly3436=) c.9109-746G= (n.9109-746G=) | |
| 1 | g.152304579C>G | CA1103426 | FLG | c.10307G>C (p.Gly3436Ala) c.9109-746G>C (n.9109-746G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304579C>T | CA342071055 | FLG | c.10307G>A (p.Gly3436Glu) c.9109-746G>A (n.9109-746G>A) | dbSNP |
| 1 | g.152304580C>A | CA342071060 | FLG | c.10306G>T (p.Gly3436Ter) c.9109-747G>T (n.9109-747G>T) | |
| 1 | g.152304580C= | CA2479947516 | FLG | c.10306G= (p.Gly3436=) c.9109-747G= (n.9109-747G=) | |
| 1 | g.152304580C>G | CA342071063 | FLG | c.10306G>C (p.Gly3436Arg) c.9109-747G>C (n.9109-747G>C) | |
| 1 | g.152304580C>T | CA342071058 | FLG | c.10306G>A (p.Gly3436Arg) c.9109-747G>A (n.9109-747G>A) | dbSNP |
| 1 | g.152304581A>C | CA420926898 | FLG | c.10305T>G (p.Arg3435=) c.9109-748T>G (n.9109-748T>G) | |
| 1 | g.152304581A>G | CA420926897 | FLG | c.10305T>C (p.Arg3435=) c.9109-748T>C (n.9109-748T>C) | |
| 1 | g.152304581A>T | CA420926899 | FLG | c.10305T>A (p.Arg3435=) c.9109-748T>A (n.9109-748T>A) | |
| 1 | g.152304582C>A | CA342071068 | FLG | c.10304G>T (p.Arg3435Leu) c.9109-749G>T (n.9109-749G>T) | gnomAD v4 |
| 1 | g.152304582C= | CA1147970673 | FLG | c.10304G= (p.Arg3435=) c.9109-749G= (n.9109-749G=) | |
| 1 | g.152304582C>G | CA342071070 | FLG | c.10304G>C (p.Arg3435Pro) c.9109-749G>C (n.9109-749G>C) | |
| 1 | g.152304582C>T | CA1103427 | FLG | c.10304G>A (p.Arg3435His) c.9109-749G>A (n.9109-749G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304583G>A | CA1103428 | FLG | c.10303C>T (p.Arg3435Cys) c.9109-750C>T (n.9109-750C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304583G>C | CA342071074 | FLG | c.10303C>G (p.Arg3435Gly) c.9109-750C>G (n.9109-750C>G) | gnomAD v4 |
| 1 | g.152304583G= | CA2479947517 | FLG | c.10303C= (p.Arg3435=) c.9109-750C= (n.9109-750C=) | |
| 1 | g.152304583G>T | CA342071075 | FLG | c.10303C>A (p.Arg3435Ser) c.9109-750C>A (n.9109-750C>A) | |
| 1 | g.152304584A= | CA2479947518 | FLG | c.10302T= (p.Ile3434=) c.9109-751T= (n.9109-751T=) | |
| 1 | g.152304584A>C | CA342071076 | FLG | c.10302T>G (p.Ile3434Met) c.9109-751T>G (n.9109-751T>G) | |
| 1 | g.152304584A>G | CA420926900 | FLG | c.10302T>C (p.Ile3434=) c.9109-751T>C (n.9109-751T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304584A>T | CA420926901 | FLG | c.10302T>A (p.Ile3434=) c.9109-751T>A (n.9109-751T>A) | |
| 1 | g.152304585A= | CA2479947519 | FLG | c.10301T= (p.Ile3434=) c.9109-752T= (n.9109-752T=) | |
| 1 | g.152304585A>C | CA342071078 | FLG | c.10301T>G (p.Ile3434Ser) c.9109-752T>G (n.9109-752T>G) | |
| 1 | g.152304585A>G | CA342071080 | FLG | c.10301T>C (p.Ile3434Thr) c.9109-752T>C (n.9109-752T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.152304585A>T | CA1103429 | FLG | c.10301T>A (p.Ile3434Asn) c.9109-752T>A (n.9109-752T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304586T>A | CA342071085 | FLG | c.10300A>T (p.Ile3434Phe) c.9109-753A>T (n.9109-753A>T) | |
| 1 | g.152304586T>C | CA342071087 | FLG | c.10300A>G (p.Ile3434Val) c.9109-753A>G (n.9109-753A>G) | |
| 1 | g.152304586T>G | CA342071089 | FLG | c.10300A>C (p.Ile3434Leu) c.9109-753A>C (n.9109-753A>C) | |
| 1 | g.152304587G>A | CA420926902 | FLG | c.10299C>T (p.Thr3433=) c.9109-754C>T (n.9109-754C>T) | gnomAD v4 |
| 1 | g.152304587G>C | CA420926903 | FLG | c.10299C>G (p.Thr3433=) c.9109-754C>G (n.9109-754C>G) | |
| 1 | g.152304587G>T | CA420926904 | FLG | c.10299C>A (p.Thr3433=) c.9109-754C>A (n.9109-754C>A) | |
| 1 | g.152304588G>A | CA342071101 | FLG | c.10298C>T (p.Thr3433Ile) c.9109-755C>T (n.9109-755C>T) | gnomAD v4 |
| 1 | g.152304588G>C | CA342071099 | FLG | c.10298C>G (p.Thr3433Ser) c.9109-755C>G (n.9109-755C>G) | |
| 1 | g.152304588G>T | CA342071096 | FLG | c.10298C>A (p.Thr3433Asn) c.9109-755C>A (n.9109-755C>A) | |
| 1 | g.152304589T>A | CA342071105 | FLG | c.10297A>T (p.Thr3433Ser) c.9109-756A>T (n.9109-756A>T) | gnomAD v4 |
| 1 | g.152304589T>C | CA342071113 | FLG | c.10297A>G (p.Thr3433Ala) c.9109-756A>G (n.9109-756A>G) | |
| 1 | g.152304589T>G | CA342071109 | FLG | c.10297A>C (p.Thr3433Pro) c.9109-756A>C (n.9109-756A>C) | |
| 1 | g.152304590G>A | CA420926905 | FLG | c.10296C>T (p.Asp3432=) c.9109-757C>T (n.9109-757C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304590G>C | CA342071115 | FLG | c.10296C>G (p.Asp3432Glu) c.9109-757C>G (n.9109-757C>G) | |
| 1 | g.152304590G= | CA2479947520 | FLG | c.10296C= (p.Asp3432=) c.9109-757C= (n.9109-757C=) | |
| 1 | g.152304590G>T | CA342071118 | FLG | c.10296C>A (p.Asp3432Glu) c.9109-757C>A (n.9109-757C>A) | COSMIC |
| 1 | g.152304591T>A | CA342071120 | FLG | c.10295A>T (p.Asp3432Val) c.9109-758A>T (n.9109-758A>T) | |
| 1 | g.152304591T>C | CA342071123 | FLG | c.10295A>G (p.Asp3432Gly) c.9109-758A>G (n.9109-758A>G) | |
| 1 | g.152304591T>G | CA342071126 | FLG | c.10295A>C (p.Asp3432Ala) c.9109-758A>C (n.9109-758A>C) | |
| 1 | g.152304592C>A | CA342071128 | FLG | c.10294G>T (p.Asp3432Tyr) c.9109-759G>T (n.9109-759G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304592C= | CA2479947521 | FLG | c.10294G= (p.Asp3432=) c.9109-759G= (n.9109-759G=) | |
| 1 | g.152304592C>G | CA342071130 | FLG | c.10294G>C (p.Asp3432His) c.9109-759G>C (n.9109-759G>C) | |
| 1 | g.152304592C>T | CA342071133 | FLG | c.10294G>A (p.Asp3432Asn) c.9109-759G>A (n.9109-759G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304593C>A | CA342071135 | FLG | c.10293G>T (p.Gln3431His) c.9109-760G>T (n.9109-760G>T) | |
| 1 | g.152304593C= | CA2479947522 | FLG | c.10293G= (p.Gln3431=) c.9109-760G= (n.9109-760G=) | |
| 1 | g.152304593C>G | CA342071139 | FLG | c.10293G>C (p.Gln3431His) c.9109-760G>C (n.9109-760G>C) | |
| 1 | g.152304593C>T | CA420926906 | FLG | c.10293G>A (p.Gln3431=) c.9109-760G>A (n.9109-760G>A) | dbSNP |
| 1 | g.152304594del | CA2558206033 | FLG | c.10292del (p.Gln3431ArgfsTer24) c.9109-761del (n.9109-761del) | |
| 1 | g.152304594T>A | CA342071141 | FLG | c.10292A>T (p.Gln3431Leu) c.9109-761A>T (n.9109-761A>T) | |
| 1 | g.152304594T>C | CA342071152 | FLG | c.10292A>G (p.Gln3431Arg) c.9109-761A>G (n.9109-761A>G) | |
| 1 | g.152304594T>G | CA30601176 | FLG | c.10292A>C (p.Gln3431Pro) c.9109-761A>C (n.9109-761A>C) | dbSNP |
| 1 | g.152304594T= | CA2479947523 | FLG | c.10292A= (p.Gln3431=) c.9109-761A= (n.9109-761A=) | |
| 1 | g.152304595G>A | CA342071162 | FLG | c.10291C>T (p.Gln3431Ter) c.9109-762C>T (n.9109-762C>T) | COSMIC |
| 1 | g.152304595G>C | CA342071165 | FLG | c.10291C>G (p.Gln3431Glu) c.9109-762C>G (n.9109-762C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304595G= | CA1145601446 | FLG | c.10291C= (p.Gln3431=) c.9109-762C= (n.9109-762C=) | |
| 1 | g.152304595G>T | CA1103430 | FLG | c.10291C>A (p.Gln3431Lys) c.9109-762C>A (n.9109-762C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304596A= | CA2479947524 | FLG | c.10290T= (p.Gly3430=) c.9109-763T= (n.9109-763T=) | |
| 1 | g.152304596A>C | CA420926908 | FLG | c.10290T>G (p.Gly3430=) c.9109-763T>G (n.9109-763T>G) | |
| 1 | g.152304596A>G | CA1103431 | FLG | c.10290T>C (p.Gly3430=) c.9109-763T>C (n.9109-763T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304596A>T | CA420926907 | FLG | c.10290T>A (p.Gly3430=) c.9109-763T>A (n.9109-763T>A) | |
| 1 | g.152304597C>A | CA342071174 | FLG | c.10289G>T (p.Gly3430Val) c.9109-764G>T (n.9109-764G>T) | gnomAD v4 |
| 1 | g.152304597C>G | CA342071176 | FLG | c.10289G>C (p.Gly3430Ala) c.9109-764G>C (n.9109-764G>C) | |
| 1 | g.152304597C>T | CA342071180 | FLG | c.10289G>A (p.Gly3430Asp) c.9109-764G>A (n.9109-764G>A) | gnomAD v4 |
| 1 | g.152304598C>A | CA342071190 | FLG | c.10288G>T (p.Gly3430Cys) c.9109-765G>T (n.9109-765G>T) | gnomAD v3 gnomAD v4 |
| 1 | g.152304598C= | CA2479947525 | FLG | c.10288G= (p.Gly3430=) c.9109-765G= (n.9109-765G=) | |
| 1 | g.152304598C>G | CA342071192 | FLG | c.10288G>C (p.Gly3430Arg) c.9109-765G>C (n.9109-765G>C) | dbSNP gnomAD v4 |
| 1 | g.152304598C>T | CA342071197 | FLG | c.10288G>A (p.Gly3430Ser) c.9109-765G>A (n.9109-765G>A) | gnomAD v4 |
| 1 | g.152304599C>A | CA342071206 | FLG | c.10287G>T (p.Glu3429Asp) c.9109-766G>T (n.9109-766G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304599C= | CA2479947526 | FLG | c.10287G= (p.Glu3429=) c.9109-766G= (n.9109-766G=) | |
| 1 | g.152304599C>G | CA1103432 | FLG | c.10287G>C (p.Glu3429Asp) c.9109-766G>C (n.9109-766G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304599C>T | CA1103433 | FLG | c.10287G>A (p.Glu3429=) c.9109-766G>A (n.9109-766G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304600T>A | CA342071226 | FLG | c.10286A>T (p.Glu3429Val) c.9109-767A>T (n.9109-767A>T) | |
| 1 | g.152304600T>C | CA342071224 | FLG | c.10286A>G (p.Glu3429Gly) c.9109-767A>G (n.9109-767A>G) | |
| 1 | g.152304600T>G | CA342071220 | FLG | c.10286A>C (p.Glu3429Ala) c.9109-767A>C (n.9109-767A>C) | |
| 1 | g.152304601C>A | CA1103434 | FLG | c.10285G>T (p.Glu3429Ter) c.9109-768G>T (n.9109-768G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304601C= | CA2479947527 | FLG | c.10285G= (p.Glu3429=) c.9109-768G= (n.9109-768G=) | |
| 1 | g.152304601C>G | CA342071237 | FLG | c.10285G>C (p.Glu3429Gln) c.9109-768G>C (n.9109-768G>C) | |
| 1 | g.152304601C>T | CA342071242 | FLG | c.10285G>A (p.Glu3429Lys) c.9109-768G>A (n.9109-768G>A) | |
| 1 | g.152304602T>A | CA342071246 | FLG | c.10284A>T (p.Gln3428His) c.9109-769A>T (n.9109-769A>T) | |
| 1 | g.152304602T>C | CA420926909 | FLG | c.10284A>G (p.Gln3428=) c.9109-769A>G (n.9109-769A>G) | gnomAD v4 |
| 1 | g.152304602T>G | CA342071253 | FLG | c.10284A>C (p.Gln3428His) c.9109-769A>C (n.9109-769A>C) | gnomAD v4 |
| 1 | g.152304603T>A | CA342071273 | FLG | c.10283A>T (p.Gln3428Leu) c.9109-770A>T (n.9109-770A>T) | |
| 1 | g.152304603T>C | CA342071261 | FLG | c.10283A>G (p.Gln3428Arg) c.9109-770A>G (n.9109-770A>G) | |
| 1 | g.152304603T>G | CA342071258 | FLG | c.10283A>C (p.Gln3428Pro) c.9109-770A>C (n.9109-770A>C) | |
| 1 | g.152304604G>A | CA342071276 | FLG | c.10282C>T (p.Gln3428Ter) c.9109-771C>T (n.9109-771C>T) | |
| 1 | g.152304604G>C | CA342071280 | FLG | c.10282C>G (p.Gln3428Glu) c.9109-771C>G (n.9109-771C>G) | |
| 1 | g.152304604G>T | CA342071284 | FLG | c.10282C>A (p.Gln3428Lys) c.9109-771C>A (n.9109-771C>A) | gnomAD v4 |
| 1 | g.152304605G>A | CA420926910 | FLG | c.10281C>T (p.Ser3427=) c.9109-772C>T (n.9109-772C>T) | |
| 1 | g.152304605G>C | CA420926911 | FLG | c.10281C>G (p.Ser3427=) c.9109-772C>G (n.9109-772C>G) | |
| 1 | g.152304605G>T | CA420926912 | FLG | c.10281C>A (p.Ser3427=) c.9109-772C>A (n.9109-772C>A) | |
| 1 | g.152304606G>A | CA342071291 | FLG | c.10280C>T (p.Ser3427Phe) c.9109-773C>T (n.9109-773C>T) | |
| 1 | g.152304606G>C | CA342071294 | FLG | c.10280C>G (p.Ser3427Cys) c.9109-773C>G (n.9109-773C>G) | |
| 1 | g.152304606G>T | CA342071299 | FLG | c.10280C>A (p.Ser3427Tyr) c.9109-773C>A (n.9109-773C>A) | |
| 1 | g.152304607A>C | CA342071300 | FLG | c.10279T>G (p.Ser3427Ala) c.9109-774T>G (n.9109-774T>G) | |
| 1 | g.152304607A>G | CA342071302 | FLG | c.10279T>C (p.Ser3427Pro) c.9109-774T>C (n.9109-774T>C) | |
| 1 | g.152304607A>T | CA342071301 | FLG | c.10279T>A (p.Ser3427Thr) c.9109-774T>A (n.9109-774T>A) | |
| 1 | g.152304608C>A | CA1103436 | FLG | c.10278G>T (p.Ala3426=) c.9109-775G>T (n.9109-775G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304608C= | CA1142144895 | FLG | c.10278G= (p.Ala3426=) c.9109-775G= (n.9109-775G=) | |
| 1 | g.152304608C>G | CA420926913 | FLG | c.10278G>C (p.Ala3426=) c.9109-775G>C (n.9109-775G>C) | |
| 1 | g.152304608C>T | CA1103435 | FLG | c.10278G>A (p.Ala3426=) c.9109-775G>A (n.9109-775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304609G>A | CA1103437 | FLG | c.10277C>T (p.Ala3426Val) c.9109-776C>T (n.9109-776C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304609G>C | CA342071326 | FLG | c.10277C>G (p.Ala3426Gly) c.9109-776C>G (n.9109-776C>G) | |
| 1 | g.152304609G= | CA1141131340 | FLG | c.10277C= (p.Ala3426=) c.9109-776C= (n.9109-776C=) | |
| 1 | g.152304609G>T | CA342071330 | FLG | c.10277C>A (p.Ala3426Glu) c.9109-776C>A (n.9109-776C>A) | gnomAD v4 |
| 1 | g.152304610C>A | CA342071335 | FLG | c.10276G>T (p.Ala3426Ser) c.9109-777G>T (n.9109-777G>T) | |
| 1 | g.152304610C= | CA2479947528 | FLG | c.10276G= (p.Ala3426=) c.9109-777G= (n.9109-777G=) | |
| 1 | g.152304610C>G | CA342071338 | FLG | c.10276G>C (p.Ala3426Pro) c.9109-777G>C (n.9109-777G>C) | |
| 1 | g.152304610C>T | CA1103438 | FLG | c.10276G>A (p.Ala3426Thr) c.9109-777G>A (n.9109-777G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304611T>A | CA420926914 | FLG | c.10275A>T (p.Ser3425=) c.9109-778A>T (n.9109-778A>T) | |
| 1 | g.152304611T>C | CA420926915 | FLG | c.10275A>G (p.Ser3425=) c.9109-778A>G (n.9109-778A>G) | gnomAD v4 |
| 1 | g.152304611T>G | CA420926916 | FLG | c.10275A>C (p.Ser3425=) c.9109-778A>C (n.9109-778A>C) | |
| 1 | g.152304612G>A | CA342071346 | FLG | c.10274C>T (p.Ser3425Leu) c.9109-779C>T (n.9109-779C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304612G>C | CA342071349 | FLG | c.10274C>G (p.Ser3425Ter) c.9109-779C>G (n.9109-779C>G) | |
| 1 | g.152304612G= | CA2479947529 | FLG | c.10274C= (p.Ser3425=) c.9109-779C= (n.9109-779C=) | |
| 1 | g.152304612G>T | CA342071355 | FLG | c.10274C>A (p.Ser3425Ter) c.9109-779C>A (n.9109-779C>A) | |
| 1 | g.152304613A= | CA2479947530 | FLG | c.10273T= (p.Ser3425=) c.9109-780T= (n.9109-780T=) | |
| 1 | g.152304613A>C | CA342071368 | FLG | c.10273T>G (p.Ser3425Ala) c.9109-780T>G (n.9109-780T>G) | |
| 1 | g.152304613A>G | CA30601241 | FLG | c.10273T>C (p.Ser3425Pro) c.9109-780T>C (n.9109-780T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304613A>T | CA342071361 | FLG | c.10273T>A (p.Ser3425Thr) c.9109-780T>A (n.9109-780T>A) | dbSNP |
| 1 | g.152304614G>A | CA1103439 | FLG | c.10272C>T (p.His3424=) c.9109-781C>T (n.9109-781C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304614G>C | CA30601254 | FLG | c.10272C>G (p.His3424Gln) c.9109-781C>G (n.9109-781C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304614G= | CA2479947531 | FLG | c.10272C= (p.His3424=) c.9109-781C= (n.9109-781C=) | |
| 1 | g.152304614G>T | CA342071383 | FLG | c.10272C>A (p.His3424Gln) c.9109-781C>A (n.9109-781C>A) | dbSNP gnomAD v4 |
| 1 | g.152304615T>A | CA342071386 | FLG | c.10271A>T (p.His3424Leu) c.9109-782A>T (n.9109-782A>T) | |
| 1 | g.152304615T>C | CA342071401 | FLG | c.10271A>G (p.His3424Arg) c.9109-782A>G (n.9109-782A>G) | |
| 1 | g.152304615T>G | CA342071394 | FLG | c.10271A>C (p.His3424Pro) c.9109-782A>C (n.9109-782A>C) | |
| 1 | g.152304616G>A | CA342071405 | FLG | c.10270C>T (p.His3424Tyr) c.9109-783C>T (n.9109-783C>T) | |
| 1 | g.152304616G>C | CA342071409 | FLG | c.10270C>G (p.His3424Asp) c.9109-783C>G (n.9109-783C>G) | |
| 1 | g.152304616G>T | CA342071412 | FLG | c.10270C>A (p.His3424Asn) c.9109-783C>A (n.9109-783C>A) | |
| 1 | g.152304616_152304617delinsGC | CA2479947532 | FLG | c.10269_10270delinsGC (p.Arg3423=) c.9109-784_9109-783delinsGC (n.9109-784_9109-783delinsGC) | |
| 1 | g.152304617C>A | CA342071416 | FLG | c.10269G>T (p.Arg3423Ser) c.9109-784G>T (n.9109-784G>T) | |
| 1 | g.152304617C>G | CA342071422 | FLG | c.10269G>C (p.Arg3423Ser) c.9109-784G>C (n.9109-784G>C) | |
| 1 | g.152304617C>T | CA420926917 | FLG | c.10269G>A (p.Arg3423=) c.9109-784G>A (n.9109-784G>A) | gnomAD v4 COSMIC |
| 1 | g.152304618del | CA1103440 | FLG | c.10269del (p.Arg3423SerfsTer?) c.9109-784del (n.9109-784del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304618C>A | CA342071429 | FLG | c.10268G>T (p.Arg3423Met) c.9109-785G>T (n.9109-785G>T) | |
| 1 | g.152304618C= | CA2479947533 | FLG | c.10268G= (p.Arg3423=) c.9109-785G= (n.9109-785G=) | |
| 1 | g.152304618C>G | CA342071431 | FLG | c.10268G>C (p.Arg3423Thr) c.9109-785G>C (n.9109-785G>C) | dbSNP |
| 1 | g.152304618C>T | CA342071434 | FLG | c.10268G>A (p.Arg3423Lys) c.9109-785G>A (n.9109-785G>A) | |
| 1 | g.152304619T>A | CA342071437 | FLG | c.10267A>T (p.Arg3423Trp) c.9109-786A>T (n.9109-786A>T) | dbSNP gnomAD v4 COSMIC |
| 1 | g.152304619T>C | CA1103441 | FLG | c.10267A>G (p.Arg3423Gly) c.9109-786A>G (n.9109-786A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304619T>G | CA420926918 | FLG | c.10267A>C (p.Arg3423=) c.9109-786A>C (n.9109-786A>C) | gnomAD v4 |
| 1 | g.152304619T= | CA2479947534 | FLG | c.10267A= (p.Arg3423=) c.9109-786A= (n.9109-786A=) | |
| 1 | g.152304620G>A | CA30601262 | FLG | c.10266C>T (p.Ser3422=) c.9109-787C>T (n.9109-787C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304620G>C | CA420926919 | FLG | c.10266C>G (p.Ser3422=) c.9109-787C>G (n.9109-787C>G) | |
| 1 | g.152304620G= | CA2479947535 | FLG | c.10266C= (p.Ser3422=) c.9109-787C= (n.9109-787C=) | |
| 1 | g.152304620G>T | CA420926920 | FLG | c.10266C>A (p.Ser3422=) c.9109-787C>A (n.9109-787C>A) | |
| 1 | g.152304621G>A | CA342071454 | FLG | c.10265C>T (p.Ser3422Phe) c.9109-788C>T (n.9109-788C>T) | COSMIC |
| 1 | g.152304621G>C | CA342071448 | FLG | c.10265C>G (p.Ser3422Cys) c.9109-788C>G (n.9109-788C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304621G= | CA2479947536 | FLG | c.10265C= (p.Ser3422=) c.9109-788C= (n.9109-788C=) | |
| 1 | g.152304621G>T | CA342071451 | FLG | c.10265C>A (p.Ser3422Tyr) c.9109-788C>A (n.9109-788C>A) | |
| 1 | g.152304622A>C | CA342071457 | FLG | c.10264T>G (p.Ser3422Ala) c.9109-789T>G (n.9109-789T>G) | gnomAD v4 |
| 1 | g.152304622A>G | CA342071458 | FLG | c.10264T>C (p.Ser3422Pro) c.9109-789T>C (n.9109-789T>C) | |
| 1 | g.152304622A>T | CA342071461 | FLG | c.10264T>A (p.Ser3422Thr) c.9109-789T>A (n.9109-789T>A) | |
| 1 | g.152304623G>A | CA420926921 | FLG | c.10263C>T (p.Ser3421=) c.9109-790C>T (n.9109-790C>T) | dbSNP gnomAD v4 |
| 1 | g.152304623G>C | CA1103442 | FLG | c.10263C>G (p.Ser3421Arg) c.9109-790C>G (n.9109-790C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304623G= | CA2479947537 | FLG | c.10263C= (p.Ser3421=) c.9109-790C= (n.9109-790C=) | |
| 1 | g.152304623G>T | CA342071465 | FLG | c.10263C>A (p.Ser3421Arg) c.9109-790C>A (n.9109-790C>A) | gnomAD v4 |
| 1 | g.152304624C>A | CA342071468 | FLG | c.10262G>T (p.Ser3421Ile) c.9109-791G>T (n.9109-791G>T) | |
| 1 | g.152304624C= | CA1141669440 | FLG | c.10262G= (p.Ser3421=) c.9109-791G= (n.9109-791G=) | |
| 1 | g.152304624C>G | CA342071471 | FLG | c.10262G>C (p.Ser3421Thr) c.9109-791G>C (n.9109-791G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304624C>T | CA1103443 | FLG | c.10262G>A (p.Ser3421Asn) c.9109-791G>A (n.9109-791G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304625T>A | CA342071477 | FLG | c.10261A>T (p.Ser3421Cys) c.9109-792A>T (n.9109-792A>T) | |
| 1 | g.152304625T>C | CA342071480 | FLG | c.10261A>G (p.Ser3421Gly) c.9109-792A>G (n.9109-792A>G) | dbSNP |
| 1 | g.152304625T>G | CA342071483 | FLG | c.10261A>C (p.Ser3421Arg) c.9109-792A>C (n.9109-792A>C) | |
| 1 | g.152304625T= | CA2479947538 | FLG | c.10261A= (p.Ser3421=) c.9109-792A= (n.9109-792A=) | |
| 1 | g.152304626G>A | CA420926922 | FLG | c.10260C>T (p.Asp3420=) c.9109-793C>T (n.9109-793C>T) | gnomAD v4 |
| 1 | g.152304626G>C | CA1103444 | FLG | c.10260C>G (p.Asp3420Glu) c.9109-793C>G (n.9109-793C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304626G= | CA1143542230 | FLG | c.10260C= (p.Asp3420=) c.9109-793C= (n.9109-793C=) | |
| 1 | g.152304626G>T | CA342071488 | FLG | c.10260C>A (p.Asp3420Glu) c.9109-793C>A (n.9109-793C>A) | |
| 1 | g.152304627T>A | CA342071492 | FLG | c.10259A>T (p.Asp3420Val) c.9109-794A>T (n.9109-794A>T) | |
| 1 | g.152304627T>C | CA1103445 | FLG | c.10259A>G (p.Asp3420Gly) c.9109-794A>G (n.9109-794A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304627T>G | CA342071496 | FLG | c.10259A>C (p.Asp3420Ala) c.9109-794A>C (n.9109-794A>C) | |
| 1 | g.152304627T= | CA1148896796 | FLG | c.10259A= (p.Asp3420=) c.9109-794A= (n.9109-794A=) | |
| 1 | g.152304628C>A | CA342071501 | FLG | c.10258G>T (p.Asp3420Tyr) c.9109-795G>T (n.9109-795G>T) | |
| 1 | g.152304628C= | CA2479947539 | FLG | c.10258G= (p.Asp3420=) c.9109-795G= (n.9109-795G=) | |
| 1 | g.152304628C>G | CA342071503 | FLG | c.10258G>C (p.Asp3420His) c.9109-795G>C (n.9109-795G>C) | dbSNP gnomAD v4 |
| 1 | g.152304628C>T | CA342071505 | FLG | c.10258G>A (p.Asp3420Asn) c.9109-795G>A (n.9109-795G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304629T>A | CA420926923 | FLG | c.10257A>T (p.Arg3419=) c.9109-796A>T (n.9109-796A>T) | |
| 1 | g.152304629T>C | CA420926924 | FLG | c.10257A>G (p.Arg3419=) c.9109-796A>G (n.9109-796A>G) | gnomAD v4 |
| 1 | g.152304629T>G | CA420926925 | FLG | c.10257A>C (p.Arg3419=) c.9109-796A>C (n.9109-796A>C) | |
| 1 | g.152304630C>A | CA342071509 | FLG | c.10256G>T (p.Arg3419Leu) c.9109-797G>T (n.9109-797G>T) | dbSNP gnomAD v4 |
| 1 | g.152304630C= | CA1143536893 | FLG | c.10256G= (p.Arg3419=) c.9109-797G= (n.9109-797G=) | |
| 1 | g.152304630C>G | CA1103446 | FLG | c.10256G>C (p.Arg3419Pro) c.9109-797G>C (n.9109-797G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304630C>T | CA1103447 | FLG | c.10256G>A (p.Arg3419Gln) c.9109-797G>A (n.9109-797G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304631G>A | CA1103448 | FLG | c.10255C>T (p.Arg3419Ter) c.9109-798C>T (n.9109-798C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304631G>C | CA342071515 | FLG | c.10255C>G (p.Arg3419Gly) c.9109-798C>G (n.9109-798C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304631G= | CA1141928641 | FLG | c.10255C= (p.Arg3419=) c.9109-798C= (n.9109-798C=) | |
| 1 | g.152304631G>T | CA1103449 | FLG | c.10255C>A (p.Arg3419=) c.9109-798C>A (n.9109-798C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304632T>A | CA420926926 | FLG | c.10254A>T (p.Ala3418=) c.9109-799A>T (n.9109-799A>T) | gnomAD v4 |
| 1 | g.152304632T>C | CA420926927 | FLG | c.10254A>G (p.Ala3418=) c.9109-799A>G (n.9109-799A>G) | |
| 1 | g.152304632T>G | CA420926928 | FLG | c.10254A>C (p.Ala3418=) c.9109-799A>C (n.9109-799A>C) | |
| 1 | g.152304633G>A | CA342071524 | FLG | c.10253C>T (p.Ala3418Val) c.9109-800C>T (n.9109-800C>T) | dbSNP gnomAD v4 |
| 1 | g.152304633G>C | CA342071527 | FLG | c.10253C>G (p.Ala3418Gly) c.9109-800C>G (n.9109-800C>G) | |
| 1 | g.152304633G= | CA2479947541 | FLG | c.10253C= (p.Ala3418=) c.9109-800C= (n.9109-800C=) | |
| 1 | g.152304633G>T | CA342071521 | FLG | c.10253C>A (p.Ala3418Glu) c.9109-800C>A (n.9109-800C>A) | |
| 1 | g.152304633_152304634delinsGC | CA2479947540 | FLG | c.10252_10253delinsGC (p.Ala3418=) c.9109-801_9109-800delinsGC (n.9109-801_9109-800delinsGC) | |
| 1 | g.152304634C>A | CA342071530 | FLG | c.10252G>T (p.Ala3418Ser) c.9109-801G>T (n.9109-801G>T) | gnomAD v4 COSMIC |
| 1 | g.152304634C= | CA1144035220 | FLG | c.10252G= (p.Ala3418=) c.9109-801G= (n.9109-801G=) | |
| 1 | g.152304634C>G | CA342071533 | FLG | c.10252G>C (p.Ala3418Pro) c.9109-801G>C (n.9109-801G>C) | |
| 1 | g.152304634C>T | CA1103450 | FLG | c.10252G>A (p.Ala3418Thr) c.9109-801G>A (n.9109-801G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304635del | CA889396656 | FLG | c.10252del (p.Ala3418HisfsTer?) c.9109-801del (n.9109-801del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304635C>A | CA342071537 | FLG | c.10251G>T (p.Gln3417His) c.9109-802G>T (n.9109-802G>T) | |
| 1 | g.152304635C= | CA2479947543 | FLG | c.10251G= (p.Gln3417=) c.9109-802G= (n.9109-802G=) | |
| 1 | g.152304635C>G | CA342071540 | FLG | c.10251G>C (p.Gln3417His) c.9109-802G>C (n.9109-802G>C) | |
| 1 | g.152304635C>T | CA420926932 | FLG | c.10251G>A (p.Gln3417=) c.9109-802G>A (n.9109-802G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304635_152304636delinsCT | CA2479947542 | FLG | c.10250_10251delinsAG (p.Gln3417=) c.9109-803_9109-802delinsAG (n.9109-803_9109-802delinsAG) | |
| 1 | g.152304636del | CA1103451 | FLG | c.10250del (p.Gln3417ArgfsTer?) c.9109-803del (n.9109-803del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304636T>A | CA342071549 | FLG | c.10250A>T (p.Gln3417Leu) c.9109-803A>T (n.9109-803A>T) | |
| 1 | g.152304636T>C | CA342071543 | FLG | c.10250A>G (p.Gln3417Arg) c.9109-803A>G (n.9109-803A>G) | |
| 1 | g.152304636T>G | CA342071547 | FLG | c.10250A>C (p.Gln3417Pro) c.9109-803A>C (n.9109-803A>C) | |
| 1 | g.152304636T= | CA1148871131 | FLG | c.10250A= (p.Gln3417=) c.9109-803A= (n.9109-803A=) | |
| 1 | g.152304636_152304645del | CA2746124055 | FLG | c.10241_10250del (p.His3414ArgfsTer?) c.9109-812_9109-803del (n.9109-812_9109-803del) | |
| 1 | g.152304637G>A | CA342071552 | FLG | c.10249C>T (p.Gln3417Ter) c.9109-804C>T (n.9109-804C>T) | |
| 1 | g.152304637G>C | CA342071555 | FLG | c.10249C>G (p.Gln3417Glu) c.9109-804C>G (n.9109-804C>G) | |
| 1 | g.152304637G>T | CA342071556 | FLG | c.10249C>A (p.Gln3417Lys) c.9109-804C>A (n.9109-804C>A) | |
| 1 | g.152304638C>A | CA342071560 | FLG | c.10248G>T (p.Glu3416Asp) c.9109-805G>T (n.9109-805G>T) | |
| 1 | g.152304638C= | CA2479947544 | FLG | c.10248G= (p.Glu3416=) c.9109-805G= (n.9109-805G=) | |
| 1 | g.152304638C>G | CA342071562 | FLG | c.10248G>C (p.Glu3416Asp) c.9109-805G>C (n.9109-805G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304638C>T | CA420926938 | FLG | c.10248G>A (p.Glu3416=) c.9109-805G>A (n.9109-805G>A) | gnomAD v4 |