| 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.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.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 |