Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304748_152304749delinsAC | CA2479947615 | FLG | c.10137_10138delinsGT (p.Arg3379=) c.9109-916_9109-915delinsGT (n.9109-916_9109-915delinsGT) | |
1 | g.152304749C>A | CA342072910 | FLG | c.10137G>T (p.Arg3379Ser) c.9109-916G>T (n.9109-916G>T) | gnomAD v4 |
1 | g.152304749C= | CA2479947617 | FLG | c.10137G= (p.Arg3379=) c.9109-916G= (n.9109-916G=) | |
1 | g.152304749C>G | CA342072912 | FLG | c.10137G>C (p.Arg3379Ser) c.9109-916G>C (n.9109-916G>C) | |
1 | g.152304749C>T | CA420926820 | FLG | c.10137G>A (p.Arg3379=) c.9109-916G>A (n.9109-916G>A) | dbSNP gnomAD v4 |
1 | g.152304750del | CA2479947616 | FLG | c.10137del (p.Arg3379SerfsTer12) c.9109-916del (n.9109-916del) | dbSNP gnomAD v4 |
1 | g.152304750C>A | CA1103519 | FLG | c.10136G>T (p.Arg3379Met) c.9109-917G>T (n.9109-917G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304750C= | CA1143492661 | FLG | c.10136G= (p.Arg3379=) c.9109-917G= (n.9109-917G=) | |
1 | g.152304750C>G | CA1103518 | FLG | c.10136G>C (p.Arg3379Thr) c.9109-917G>C (n.9109-917G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304750C>T | CA342072920 | FLG | c.10136G>A (p.Arg3379Lys) c.9109-917G>A (n.9109-917G>A) | gnomAD v4 |
1 | g.152304751T>A | CA342072925 | FLG | c.10135A>T (p.Arg3379Trp) c.9109-918A>T (n.9109-918A>T) | dbSNP gnomAD v4 |
1 | g.152304751T>C | CA342072922 | FLG | c.10135A>G (p.Arg3379Gly) c.9109-918A>G (n.9109-918A>G) | dbSNP |
1 | g.152304751T>G | CA420926826 | FLG | c.10135A>C (p.Arg3379=) c.9109-918A>C (n.9109-918A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304751T= | CA2479947618 | FLG | c.10135A= (p.Arg3379=) c.9109-918A= (n.9109-918A=) | |
1 | g.152304752T>A | CA420926832 | FLG | c.10134A>T (p.Gly3378=) c.9109-919A>T (n.9109-919A>T) | |
1 | g.152304752T>C | CA420926831 | FLG | c.10134A>G (p.Gly3378=) c.9109-919A>G (n.9109-919A>G) | |
1 | g.152304752T>G | CA420926829 | FLG | c.10134A>C (p.Gly3378=) c.9109-919A>C (n.9109-919A>C) | |
1 | g.152304752_152304753delinsTC | CA2479947619 | FLG | c.10133_10134delinsGA (p.Gly3378=) c.9109-920_9109-919delinsGA (n.9109-920_9109-919delinsGA) | |
1 | g.152304753C>A | CA342072929 | FLG | c.10133G>T (p.Gly3378Val) c.9109-920G>T (n.9109-920G>T) | |
1 | g.152304753C= | CA1147698140 | FLG | c.10133G= (p.Gly3378=) c.9109-920G= (n.9109-920G=) | |
1 | g.152304753C>G | CA342072930 | FLG | c.10133G>C (p.Gly3378Ala) c.9109-920G>C (n.9109-920G>C) | |
1 | g.152304753C>T | CA1103520 | FLG | c.10133G>A (p.Gly3378Glu) c.9109-920G>A (n.9109-920G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304757dup | CA2832533973 | FLG | c.10133dup (p.Arg3379LysfsTer16) c.9109-920dup (n.9109-920dup) | |
1 | g.152304757del | CA526662128 | FLG | c.10133del (p.Gly3378GlufsTer13) c.9109-920del (n.9109-920del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304754C>A | CA342072934 | FLG | c.10132G>T (p.Gly3378Ter) c.9109-921G>T (n.9109-921G>T) | |
1 | g.152304754C= | CA2479947620 | FLG | c.10132G= (p.Gly3378=) c.9109-921G= (n.9109-921G=) | |
1 | g.152304754C>G | CA342072936 | FLG | c.10132G>C (p.Gly3378Arg) c.9109-921G>C (n.9109-921G>C) | |
1 | g.152304754C>T | CA1103521 | FLG | c.10132G>A (p.Gly3378Arg) c.9109-921G>A (n.9109-921G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304755C>A | CA420926835 | FLG | c.10131G>T (p.Gly3377=) c.9109-922G>T (n.9109-922G>T) | gnomAD v4 COSMIC |
1 | g.152304755C= | CA2479947621 | FLG | c.10131G= (p.Gly3377=) c.9109-922G= (n.9109-922G=) | |
1 | g.152304755C>G | CA420926837 | FLG | c.10131G>C (p.Gly3377=) c.9109-922G>C (n.9109-922G>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304755C>T | CA1103522 | FLG | c.10131G>A (p.Gly3377=) c.9109-922G>A (n.9109-922G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304756C>A | CA342072942 | FLG | c.10130G>T (p.Gly3377Val) c.9109-923G>T (n.9109-923G>T) | |
1 | g.152304756C= | CA2479947622 | FLG | c.10130G= (p.Gly3377=) c.9109-923G= (n.9109-923G=) | |
1 | g.152304756C>G | CA1103523 | FLG | c.10130G>C (p.Gly3377Ala) c.9109-923G>C (n.9109-923G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304756C>T | CA342072946 | FLG | c.10130G>A (p.Gly3377Glu) c.9109-923G>A (n.9109-923G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304757C>A | CA1103525 | FLG | c.10129G>T (p.Gly3377Trp) c.9109-924G>T (n.9109-924G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304757C= | CA2479947623 | FLG | c.10129G= (p.Gly3377=) c.9109-924G= (n.9109-924G=) | |
1 | g.152304757C>G | CA342072950 | FLG | c.10129G>C (p.Gly3377Arg) c.9109-924G>C (n.9109-924G>C) | gnomAD v4 |
1 | g.152304757C>T | CA342072953 | FLG | c.10129G>A (p.Gly3377Arg) c.9109-924G>A (n.9109-924G>A) | |
1 | g.152304757_152304758delinsCT | CA2479947624 | FLG | c.10128_10129delinsAG (p.Ser3376=) c.9109-925_9109-924delinsAG (n.9109-925_9109-924delinsAG) | |
1 | g.152304758del | CA1103524 | FLG | c.10128del (p.Gly3378GlufsTer13) c.9109-925del (n.9109-925del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304758T>A | CA420926842 | FLG | c.10128A>T (p.Ser3376=) c.9109-925A>T (n.9109-925A>T) | |
1 | g.152304758T>C | CA420926843 | FLG | c.10128A>G (p.Ser3376=) c.9109-925A>G (n.9109-925A>G) | gnomAD v4 |
1 | g.152304758T>G | CA1103526 | FLG | c.10128A>C (p.Ser3376=) c.9109-925A>C (n.9109-925A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304758T= | CA2479947625 | FLG | c.10128A= (p.Ser3376=) c.9109-925A= (n.9109-925A=) | |
1 | g.152304759G>A | CA342072958 | FLG | c.10127C>T (p.Ser3376Leu) c.9109-926C>T (n.9109-926C>T) | |
1 | g.152304759G>C | CA342072962 | FLG | c.10127C>G (p.Ser3376Ter) c.9109-926C>G (n.9109-926C>G) | dbSNP |
1 | g.152304759G= | CA2479947626 | FLG | c.10127C= (p.Ser3376=) c.9109-926C= (n.9109-926C=) | |
1 | g.152304759G>T | CA342072960 | FLG | c.10127C>A (p.Ser3376Ter) c.9109-926C>A (n.9109-926C>A) | |
1 | g.152304760A= | CA2479947627 | FLG | c.10126T= (p.Ser3376=) c.9109-927T= (n.9109-927T=) | |
1 | g.152304760A>C | CA342072964 | FLG | c.10126T>G (p.Ser3376Ala) c.9109-927T>G (n.9109-927T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304760A>G | CA342072967 | FLG | c.10126T>C (p.Ser3376Pro) c.9109-927T>C (n.9109-927T>C) | |
1 | g.152304760A>T | CA342072969 | FLG | c.10126T>A (p.Ser3376Thr) c.9109-927T>A (n.9109-927T>A) | |
1 | g.152304762_152304858del | CA2647993540 | FLG | c.10030_10126del (p.Glu3344GlnfsTer15) c.9108+922_9109-927del (n.9108+922_9109-927del) | gnomAD v4 |
1 | g.152304761C>A | CA420926849 | FLG | c.10125G>T (p.Arg3375=) c.9109-928G>T (n.9109-928G>T) | |
1 | g.152304761C= | CA1145307001 | FLG | c.10125G= (p.Arg3375=) c.9109-928G= (n.9109-928G=) | |
1 | g.152304761C>G | CA420926851 | FLG | c.10125G>C (p.Arg3375=) c.9109-928G>C (n.9109-928G>C) | |
1 | g.152304761C>T | CA1103527 | FLG | c.10125G>A (p.Arg3375=) c.9109-928G>A (n.9109-928G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304762C>A | CA1103528 | FLG | c.10124G>T (p.Arg3375Leu) c.9109-929G>T (n.9109-929G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304762C= | CA1146049868 | FLG | c.10124G= (p.Arg3375=) c.9109-929G= (n.9109-929G=) | |
1 | g.152304762C>G | CA342072973 | FLG | c.10124G>C (p.Arg3375Pro) c.9109-929G>C (n.9109-929G>C) | |
1 | g.152304762C>T | CA342072975 | FLG | c.10124G>A (p.Arg3375Gln) c.9109-929G>A (n.9109-929G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304763G>A | CA1103529 | FLG | c.10123C>T (p.Arg3375Trp) c.9109-930C>T (n.9109-930C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304763G>C | CA342072979 | FLG | c.10123C>G (p.Arg3375Gly) c.9109-930C>G (n.9109-930C>G) | |
1 | g.152304763G= | CA1141206836 | FLG | c.10123C= (p.Arg3375=) c.9109-930C= (n.9109-930C=) | |
1 | g.152304763G>T | CA420926852 | FLG | c.10123C>A (p.Arg3375=) c.9109-930C>A (n.9109-930C>A) | |
1 | g.152304764G>A | CA420926854 | FLG | c.10122C>T (p.Asp3374=) c.9109-931C>T (n.9109-931C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304764G>C | CA342072980 | FLG | c.10122C>G (p.Asp3374Glu) c.9109-931C>G (n.9109-931C>G) | |
1 | g.152304764G= | CA2479947628 | FLG | c.10122C= (p.Asp3374=) c.9109-931C= (n.9109-931C=) | |
1 | g.152304764G>T | CA342072983 | FLG | c.10122C>A (p.Asp3374Glu) c.9109-931C>A (n.9109-931C>A) | dbSNP gnomAD v4 |
1 | g.152304764_152304765delinsGT | CA2479947629 | FLG | c.10121_10122delinsAC (p.Asp3374=) c.9109-932_9109-931delinsAC (n.9109-932_9109-931delinsAC) | |
1 | g.152304765del | CA889396814 | FLG | c.10121del (p.Asp3374AlafsTer17) c.9109-932del (n.9109-932del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304765T>A | CA342072989 | FLG | c.10121A>T (p.Asp3374Val) c.9109-932A>T (n.9109-932A>T) | |
1 | g.152304765T>C | CA1103530 | FLG | c.10121A>G (p.Asp3374Gly) c.9109-932A>G (n.9109-932A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304765T>G | CA342072986 | FLG | c.10121A>C (p.Asp3374Ala) c.9109-932A>C (n.9109-932A>C) | |
1 | g.152304765T= | CA2479947630 | FLG | c.10121A= (p.Asp3374=) c.9109-932A= (n.9109-932A=) | |
1 | g.152304766C>A | CA342072990 | FLG | c.10120G>T (p.Asp3374Tyr) c.9109-933G>T (n.9109-933G>T) | |
1 | g.152304766C>G | CA342072992 | FLG | c.10120G>C (p.Asp3374His) c.9109-933G>C (n.9109-933G>C) | |
1 | g.152304766C>T | CA342072993 | FLG | c.10120G>A (p.Asp3374Asn) c.9109-933G>A (n.9109-933G>A) | gnomAD v4 |
1 | g.152304767A= | CA2479947631 | FLG | c.10119T= (p.Arg3373=) c.9109-934T= (n.9109-934T=) | |
1 | g.152304767A>C | CA420926859 | FLG | c.10119T>G (p.Arg3373=) c.9109-934T>G (n.9109-934T>G) | |
1 | g.152304767A>G | CA420926861 | FLG | c.10119T>C (p.Arg3373=) c.9109-934T>C (n.9109-934T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304767A>T | CA1103531 | FLG | c.10119T>A (p.Arg3373=) c.9109-934T>A (n.9109-934T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304768C>A | CA342072998 | FLG | c.10118G>T (p.Arg3373Leu) c.9109-935G>T (n.9109-935G>T) | dbSNP |
1 | g.152304768C= | CA1145988764 | FLG | c.10118G= (p.Arg3373=) c.9109-935G= (n.9109-935G=) | |
1 | g.152304768C>G | CA342073001 | FLG | c.10118G>C (p.Arg3373Pro) c.9109-935G>C (n.9109-935G>C) | |
1 | g.152304768C>T | CA1103532 | FLG | c.10118G>A (p.Arg3373His) c.9109-935G>A (n.9109-935G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304769G>A | CA1103533 | FLG | c.10117C>T (p.Arg3373Cys) c.9109-936C>T (n.9109-936C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304769G>C | CA1103534 | FLG | c.10117C>G (p.Arg3373Gly) c.9109-936C>G (n.9109-936C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304769G= | CA1147856709 | FLG | c.10117C= (p.Arg3373=) c.9109-936C= (n.9109-936C=) | |
1 | g.152304769G>T | CA342073014 | FLG | c.10117C>A (p.Arg3373Ser) c.9109-936C>A (n.9109-936C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304770T>A | CA420926957 | FLG | c.10116A>T (p.Ala3372=) c.9109-937A>T (n.9109-937A>T) | gnomAD v4 |
1 | g.152304770T>C | CA420926958 | FLG | c.10116A>G (p.Ala3372=) c.9109-937A>G (n.9109-937A>G) | |
1 | g.152304770T>G | CA420926956 | FLG | c.10116A>C (p.Ala3372=) c.9109-937A>C (n.9109-937A>C) | |
1 | g.152304771G>A | CA342073016 | FLG | c.10115C>T (p.Ala3372Val) c.9109-938C>T (n.9109-938C>T) | gnomAD v4 |
1 | g.152304771G>C | CA342073018 | FLG | c.10115C>G (p.Ala3372Gly) c.9109-938C>G (n.9109-938C>G) | |
1 | g.152304771G>T | CA342073020 | FLG | c.10115C>A (p.Ala3372Glu) c.9109-938C>A (n.9109-938C>A) | |
1 | g.152304772C>A | CA342073041 | FLG | c.10114G>T (p.Ala3372Ser) c.9109-939G>T (n.9109-939G>T) | gnomAD v4 |
1 | g.152304772C= | CA1142302136 | FLG | c.10114G= (p.Ala3372=) c.9109-939G= (n.9109-939G=) | |
1 | g.152304772C>G | CA342073039 | FLG | c.10114G>C (p.Ala3372Pro) c.9109-939G>C (n.9109-939G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304772C>T | CA1103535 | FLG | c.10114G>A (p.Ala3372Thr) c.9109-939G>A (n.9109-939G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304773G>A | CA1103536 | FLG | c.10113C>T (p.Ser3371=) c.9109-940C>T (n.9109-940C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304773G>C | CA1103537 | FLG | c.10113C>G (p.Ser3371=) c.9109-940C>G (n.9109-940C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304773G= | CA1141815315 | FLG | c.10113C= (p.Ser3371=) c.9109-940C= (n.9109-940C=) | |
1 | g.152304773G>T | CA420926963 | FLG | c.10113C>A (p.Ser3371=) c.9109-940C>A (n.9109-940C>A) | |
1 | g.152304774G>A | CA342073047 | FLG | c.10112C>T (p.Ser3371Phe) c.9109-941C>T (n.9109-941C>T) | |
1 | g.152304774G>C | CA342073050 | FLG | c.10112C>G (p.Ser3371Cys) c.9109-941C>G (n.9109-941C>G) | |
1 | g.152304774G>T | CA342073052 | FLG | c.10112C>A (p.Ser3371Tyr) c.9109-941C>A (n.9109-941C>A) | |
1 | g.152304775A>C | CA342073056 | FLG | c.10111T>G (p.Ser3371Ala) c.9109-942T>G (n.9109-942T>G) | |
1 | g.152304775A>G | CA342073059 | FLG | c.10111T>C (p.Ser3371Pro) c.9109-942T>C (n.9109-942T>C) | |
1 | g.152304775A>T | CA342073063 | FLG | c.10111T>A (p.Ser3371Thr) c.9109-942T>A (n.9109-942T>A) | |
1 | g.152304776C>A | CA1103538 | FLG | c.10110G>T (p.Glu3370Asp) c.9109-943G>T (n.9109-943G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304776C= | CA1147019580 | FLG | c.10110G= (p.Glu3370=) c.9109-943G= (n.9109-943G=) | |
1 | g.152304776C>G | CA342073067 | FLG | c.10110G>C (p.Glu3370Asp) c.9109-943G>C (n.9109-943G>C) | |
1 | g.152304776C>T | CA420926969 | FLG | c.10110G>A (p.Glu3370=) c.9109-943G>A (n.9109-943G>A) | |
1 | g.152304777T>A | CA342073070 | FLG | c.10109A>T (p.Glu3370Val) c.9109-944A>T (n.9109-944A>T) | |
1 | g.152304777T>C | CA342073072 | FLG | c.10109A>G (p.Glu3370Gly) c.9109-944A>G (n.9109-944A>G) | |
1 | g.152304777T>G | CA342073078 | FLG | c.10109A>C (p.Glu3370Ala) c.9109-944A>C (n.9109-944A>C) | |
1 | g.152304778C>A | CA342073087 | FLG | c.10108G>T (p.Glu3370Ter) c.9109-945G>T (n.9109-945G>T) | gnomAD v4 |
1 | g.152304778C= | CA2479947632 | FLG | c.10108G= (p.Glu3370=) c.9109-945G= (n.9109-945G=) | |
1 | g.152304778C>G | CA342073085 | FLG | c.10108G>C (p.Glu3370Gln) c.9109-945G>C (n.9109-945G>C) | dbSNP gnomAD v4 COSMIC |
1 | g.152304778C>T | CA342073082 | FLG | c.10108G>A (p.Glu3370Lys) c.9109-945G>A (n.9109-945G>A) | |
1 | g.152304779T>A | CA342073090 | FLG | c.10107A>T (p.Gln3369His) c.9109-946A>T (n.9109-946A>T) | |
1 | g.152304779T>C | CA420926973 | FLG | c.10107A>G (p.Gln3369=) c.9109-946A>G (n.9109-946A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304779T>G | CA342073093 | FLG | c.10107A>C (p.Gln3369His) c.9109-946A>C (n.9109-946A>C) | |
1 | g.152304779T= | CA2479947633 | FLG | c.10107A= (p.Gln3369=) c.9109-946A= (n.9109-946A=) | |
1 | g.152304780del | CA2647993541 | FLG | c.10107del (p.Glu3370SerfsTer21) c.9109-946del (n.9109-946del) | gnomAD v4 |
1 | g.152304780T>A | CA342073094 | FLG | c.10106A>T (p.Gln3369Leu) c.9109-947A>T (n.9109-947A>T) | |
1 | g.152304780T>C | CA342073095 | FLG | c.10106A>G (p.Gln3369Arg) c.9109-947A>G (n.9109-947A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304780T>G | CA342073096 | FLG | c.10106A>C (p.Gln3369Pro) c.9109-947A>C (n.9109-947A>C) | |
1 | g.152304780T= | CA2479947634 | FLG | c.10106A= (p.Gln3369=) c.9109-947A= (n.9109-947A=) | |
1 | g.152304781G>A | CA342073097 | FLG | c.10105C>T (p.Gln3369Ter) c.9109-948C>T (n.9109-948C>T) | |
1 | g.152304781G>C | CA1103539 | FLG | c.10105C>G (p.Gln3369Glu) c.9109-948C>G (n.9109-948C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304781G= | CA1143369730 | FLG | c.10105C= (p.Gln3369=) c.9109-948C= (n.9109-948C=) | |
1 | g.152304781G>T | CA1103540 | FLG | c.10105C>A (p.Gln3369Lys) c.9109-948C>A (n.9109-948C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304782G>A | CA420926979 | FLG | c.10104C>T (p.His3368=) c.9109-949C>T (n.9109-949C>T) | gnomAD v4 |
1 | g.152304782G>C | CA342073102 | FLG | c.10104C>G (p.His3368Gln) c.9109-949C>G (n.9109-949C>G) | |
1 | g.152304782G>T | CA342073107 | FLG | c.10104C>A (p.His3368Gln) c.9109-949C>A (n.9109-949C>A) | |
1 | g.152304783T>A | CA342073110 | FLG | c.10103A>T (p.His3368Leu) c.9109-950A>T (n.9109-950A>T) | |
1 | g.152304783T>C | CA342073111 | FLG | c.10103A>G (p.His3368Arg) c.9109-950A>G (n.9109-950A>G) | |
1 | g.152304783T>G | CA342073113 | FLG | c.10103A>C (p.His3368Pro) c.9109-950A>C (n.9109-950A>C) | |
1 | g.152304784G>A | CA342073123 | FLG | c.10102C>T (p.His3368Tyr) c.9109-951C>T (n.9109-951C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304784G>C | CA342073117 | FLG | c.10102C>G (p.His3368Asp) c.9109-951C>G (n.9109-951C>G) | |
1 | g.152304784G= | CA2479947635 | FLG | c.10102C= (p.His3368=) c.9109-951C= (n.9109-951C=) | |
1 | g.152304784G>T | CA342073116 | FLG | c.10102C>A (p.His3368Asn) c.9109-951C>A (n.9109-951C>A) | |
1 | g.152304785G>A | CA420926986 | FLG | c.10101C>T (p.Ser3367=) c.9109-952C>T (n.9109-952C>T) | |
1 | g.152304785G>C | CA342073130 | FLG | c.10101C>G (p.Ser3367Arg) c.9109-952C>G (n.9109-952C>G) | |
1 | g.152304785G>T | CA342073127 | FLG | c.10101C>A (p.Ser3367Arg) c.9109-952C>A (n.9109-952C>A) | |
1 | g.152304786C>A | CA342073134 | FLG | c.10100G>T (p.Ser3367Ile) c.9109-953G>T (n.9109-953G>T) | dbSNP gnomAD v4 |
1 | g.152304786C= | CA2479947636 | FLG | c.10100G= (p.Ser3367=) c.9109-953G= (n.9109-953G=) | |
1 | g.152304786C>G | CA342073137 | FLG | c.10100G>C (p.Ser3367Thr) c.9109-953G>C (n.9109-953G>C) | gnomAD v4 |
1 | g.152304786C>T | CA1103541 | FLG | c.10100G>A (p.Ser3367Asn) c.9109-953G>A (n.9109-953G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304787T>A | CA342073144 | FLG | c.10099A>T (p.Ser3367Cys) c.9109-954A>T (n.9109-954A>T) | dbSNP |
1 | g.152304787T>C | CA342073150 | FLG | c.10099A>G (p.Ser3367Gly) c.9109-954A>G (n.9109-954A>G) | |
1 | g.152304787T>G | CA342073157 | FLG | c.10099A>C (p.Ser3367Arg) c.9109-954A>C (n.9109-954A>C) | |
1 | g.152304787T= | CA2479947637 | FLG | c.10099A= (p.Ser3367=) c.9109-954A= (n.9109-954A=) | |
1 | g.152304788C>A | CA1103542 | FLG | c.10098G>T (p.Gln3366His) c.9109-955G>T (n.9109-955G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304788C= | CA2479947638 | FLG | c.10098G= (p.Gln3366=) c.9109-955G= (n.9109-955G=) | |
1 | g.152304788C>G | CA342073160 | FLG | c.10098G>C (p.Gln3366His) c.9109-955G>C (n.9109-955G>C) | |
1 | g.152304788C>T | CA420926995 | FLG | c.10098G>A (p.Gln3366=) c.9109-955G>A (n.9109-955G>A) | |
1 | g.152304789T>A | CA342073164 | FLG | c.10097A>T (p.Gln3366Leu) c.9109-956A>T (n.9109-956A>T) | |
1 | g.152304789T>C | CA342073168 | FLG | c.10097A>G (p.Gln3366Arg) c.9109-956A>G (n.9109-956A>G) | gnomAD v3 gnomAD v4 |
1 | g.152304789T>G | CA342073172 | FLG | c.10097A>C (p.Gln3366Pro) c.9109-956A>C (n.9109-956A>C) | gnomAD v4 |
1 | g.152304790G>A | CA1103544 | FLG | c.10096C>T (p.Gln3366Ter) c.9109-957C>T (n.9109-957C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152304790G>C | CA342073176 | FLG | c.10096C>G (p.Gln3366Glu) c.9109-957C>G (n.9109-957C>G) | |
1 | g.152304790G= | CA1144643322 | FLG | c.10096C= (p.Gln3366=) c.9109-957C= (n.9109-957C=) | |
1 | g.152304790G>T | CA1103543 | FLG | c.10096C>A (p.Gln3366Lys) c.9109-957C>A (n.9109-957C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304791C>A | CA342073179 | FLG | c.10095G>T (p.Gln3365His) c.9109-958G>T (n.9109-958G>T) | |
1 | g.152304791C>G | CA342073181 | FLG | c.10095G>C (p.Gln3365His) c.9109-958G>C (n.9109-958G>C) | gnomAD v4 |
1 | g.152304791C>T | CA420927002 | FLG | c.10095G>A (p.Gln3365=) c.9109-958G>A (n.9109-958G>A) | |
1 | g.152304792T>A | CA342073183 | FLG | c.10094A>T (p.Gln3365Leu) c.9109-959A>T (n.9109-959A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304792T>C | CA342073184 | FLG | c.10094A>G (p.Gln3365Arg) c.9109-959A>G (n.9109-959A>G) | |
1 | g.152304792T>G | CA342073187 | FLG | c.10094A>C (p.Gln3365Pro) c.9109-959A>C (n.9109-959A>C) | |
1 | g.152304792T= | CA2479947639 | FLG | c.10094A= (p.Gln3365=) c.9109-959A= (n.9109-959A=) | |
1 | g.152304793G>A | CA342073189 | FLG | c.10093C>T (p.Gln3365Ter) c.9109-960C>T (n.9109-960C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304793G>C | CA342073191 | FLG | c.10093C>G (p.Gln3365Glu) c.9109-960C>G (n.9109-960C>G) | gnomAD v4 |
1 | g.152304793G= | CA2479947640 | FLG | c.10093C= (p.Gln3365=) c.9109-960C= (n.9109-960C=) | |
1 | g.152304793G>T | CA342073193 | FLG | c.10093C>A (p.Gln3365Lys) c.9109-960C>A (n.9109-960C>A) | |
1 | g.152304794A>C | CA342073197 | FLG | c.10092T>G (p.His3364Gln) c.9109-961T>G (n.9109-961T>G) | |
1 | g.152304794A>G | CA420927017 | FLG | c.10092T>C (p.His3364=) c.9109-961T>C (n.9109-961T>C) | |
1 | g.152304794A>T | CA342073201 | FLG | c.10092T>A (p.His3364Gln) c.9109-961T>A (n.9109-961T>A) | gnomAD v4 |
1 | g.152304795T>A | CA342073206 | FLG | c.10091A>T (p.His3364Leu) c.9109-962A>T (n.9109-962A>T) | |
1 | g.152304795T>C | CA342073210 | FLG | c.10091A>G (p.His3364Arg) c.9109-962A>G (n.9109-962A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304795T>G | CA342073212 | FLG | c.10091A>C (p.His3364Pro) c.9109-962A>C (n.9109-962A>C) | |
1 | g.152304795T= | CA2479947641 | FLG | c.10091A= (p.His3364=) c.9109-962A= (n.9109-962A=) | |
1 | g.152304795_152304796delinsTG | CA2479947642 | FLG | c.10090_10091delinsCA (p.His3364=) c.9109-963_9109-962delinsCA (n.9109-963_9109-962delinsCA) | |
1 | g.152304796G>A | CA342073218 | FLG | c.10090C>T (p.His3364Tyr) c.9109-963C>T (n.9109-963C>T) | |
1 | g.152304796G>C | CA342073217 | FLG | c.10090C>G (p.His3364Asp) c.9109-963C>G (n.9109-963C>G) | |
1 | g.152304796G>T | CA342073215 | FLG | c.10090C>A (p.His3364Asn) c.9109-963C>A (n.9109-963C>A) | |
1 | g.152304799del | CA526662130 | FLG | c.10090del (p.His3364IlefsTer27) c.9109-963del (n.9109-963del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304797G>A | CA420927023 | FLG | c.10089C>T (p.Pro3363=) c.9109-964C>T (n.9109-964C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304797G>C | CA420927021 | FLG | c.10089C>G (p.Pro3363=) c.9109-964C>G (n.9109-964C>G) | gnomAD v3 gnomAD v4 |
1 | g.152304797G= | CA2479947643 | FLG | c.10089C= (p.Pro3363=) c.9109-964C= (n.9109-964C=) | |
1 | g.152304797G>T | CA1103545 | FLG | c.10089C>A (p.Pro3363=) c.9109-964C>A (n.9109-964C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304798G>A | CA1103547 | FLG | c.10088C>T (p.Pro3363Leu) c.9109-965C>T (n.9109-965C>T) | dbSNP ExAC gnomAD v2 |
1 | g.152304798G>C | CA342073226 | FLG | c.10088C>G (p.Pro3363Arg) c.9109-965C>G (n.9109-965C>G) | dbSNP gnomAD v4 |
1 | g.152304798G= | CA2479947644 | FLG | c.10088C= (p.Pro3363=) c.9109-965C= (n.9109-965C=) | |
1 | g.152304798G>T | CA1103546 | FLG | c.10088C>A (p.Pro3363His) c.9109-965C>A (n.9109-965C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304799G>A | CA1103548 | FLG | c.10087C>T (p.Pro3363Ser) c.9109-966C>T (n.9109-966C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304799G>C | CA342073232 | FLG | c.10087C>G (p.Pro3363Ala) c.9109-966C>G (n.9109-966C>G) | |
1 | g.152304799G= | CA2479947645 | FLG | c.10087C= (p.Pro3363=) c.9109-966C= (n.9109-966C=) | |
1 | g.152304799G>T | CA1103549 | FLG | c.10087C>A (p.Pro3363Thr) c.9109-966C>A (n.9109-966C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304799_152304800delinsGC | CA2479947646 | FLG | c.10086_10087delinsGC (p.Gly3362=) c.9109-967_9109-966delinsGC (n.9109-967_9109-966delinsGC) | |
1 | g.152304800C>A | CA1103550 | FLG | c.10086G>T (p.Gly3362=) c.9109-967G>T (n.9109-967G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304800C= | CA2479947647 | FLG | c.10086G= (p.Gly3362=) c.9109-967G= (n.9109-967G=) | |
1 | g.152304800C>G | CA420927035 | FLG | c.10086G>C (p.Gly3362=) c.9109-967G>C (n.9109-967G>C) | |
1 | g.152304800C>T | CA420927036 | FLG | c.10086G>A (p.Gly3362=) c.9109-967G>A (n.9109-967G>A) | dbSNP gnomAD v4 |
1 | g.152304802del | CA526662131 | FLG | c.10086del (p.His3364IlefsTer27) c.9109-967del (n.9109-967del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304801C>A | CA342073249 | FLG | c.10085G>T (p.Gly3362Val) c.9109-968G>T (n.9109-968G>T) | |
1 | g.152304801C= | CA2479947648 | FLG | c.10085G= (p.Gly3362=) c.9109-968G= (n.9109-968G=) | |
1 | g.152304801C>G | CA342073252 | FLG | c.10085G>C (p.Gly3362Ala) c.9109-968G>C (n.9109-968G>C) | |
1 | g.152304801C>T | CA342073255 | FLG | c.10085G>A (p.Gly3362Glu) c.9109-968G>A (n.9109-968G>A) | dbSNP gnomAD v4 |
1 | g.152304802C>A | CA1103551 | FLG | c.10084G>T (p.Gly3362Trp) c.9109-969G>T (n.9109-969G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304802C= | CA1143505000 | FLG | c.10084G= (p.Gly3362=) c.9109-969G= (n.9109-969G=) | |
1 | g.152304802C>G | CA342073259 | FLG | c.10084G>C (p.Gly3362Arg) c.9109-969G>C (n.9109-969G>C) | |
1 | g.152304802C>T | CA342073262 | FLG | c.10084G>A (p.Gly3362Arg) c.9109-969G>A (n.9109-969G>A) | dbSNP gnomAD v4 |
1 | g.152304803A>C | CA420927049 | FLG | c.10083T>G (p.Ala3361=) c.9109-970T>G (n.9109-970T>G) | gnomAD v4 |
1 | g.152304803A>G | CA420927044 | FLG | c.10083T>C (p.Ala3361=) c.9109-970T>C (n.9109-970T>C) | |
1 | g.152304803A>T | CA420927047 | FLG | c.10083T>A (p.Ala3361=) c.9109-970T>A (n.9109-970T>A) | |
1 | g.152304804G>A | CA342073270 | FLG | c.10082C>T (p.Ala3361Val) c.9109-971C>T (n.9109-971C>T) | |
1 | g.152304804G>C | CA342073266 | FLG | c.10082C>G (p.Ala3361Gly) c.9109-971C>G (n.9109-971C>G) | |
1 | g.152304804G= | CA1143522976 | FLG | c.10082C= (p.Ala3361=) c.9109-971C= (n.9109-971C=) | |
1 | g.152304804G>T | CA1103552 | FLG | c.10082C>A (p.Ala3361Asp) c.9109-971C>A (n.9109-971C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304805C>A | CA342073272 | FLG | c.10081G>T (p.Ala3361Ser) c.9109-972G>T (n.9109-972G>T) | gnomAD v4 |
1 | g.152304805C= | CA2479947649 | FLG | c.10081G= (p.Ala3361=) c.9109-972G= (n.9109-972G=) | |
1 | g.152304805C>G | CA1103553 | FLG | c.10081G>C (p.Ala3361Pro) c.9109-972G>C (n.9109-972G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304805C>T | CA342073275 | FLG | c.10081G>A (p.Ala3361Thr) c.9109-972G>A (n.9109-972G>A) | gnomAD v4 |
1 | g.152304806C>A | CA1103554 | FLG | c.10080G>T (p.Gln3360His) c.9109-973G>T (n.9109-973G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304806C= | CA2479947650 | FLG | c.10080G= (p.Gln3360=) c.9109-973G= (n.9109-973G=) | |
1 | g.152304806C>G | CA342073279 | FLG | c.10080G>C (p.Gln3360His) c.9109-973G>C (n.9109-973G>C) | gnomAD v4 |
1 | g.152304806C>T | CA420927054 | FLG | c.10080G>A (p.Gln3360=) c.9109-973G>A (n.9109-973G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304807T>A | CA342073282 | FLG | c.10079A>T (p.Gln3360Leu) c.9108+971A>T (n.9108+971A>T) | |
1 | g.152304807T>C | CA342073286 | FLG | c.10079A>G (p.Gln3360Arg) c.9108+971A>G (n.9108+971A>G) | |
1 | g.152304807T>G | CA342073289 | FLG | c.10079A>C (p.Gln3360Pro) c.9108+971A>C (n.9108+971A>C) | gnomAD v4 |
1 | g.152304808G>A | CA342073293 | FLG | c.10078C>T (p.Gln3360Ter) c.9108+970C>T (n.9108+970C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304808G>C | CA342073295 | FLG | c.10078C>G (p.Gln3360Glu) c.9108+970C>G (n.9108+970C>G) | gnomAD v4 |
1 | g.152304808G= | CA2479947651 | FLG | c.10078C= (p.Gln3360=) c.9108+970C= (n.9108+970C=) | |
1 | g.152304808G>T | CA342073306 | FLG | c.10078C>A (p.Gln3360Lys) c.9108+970C>A (n.9108+970C>A) | gnomAD v4 |
1 | g.152304809T>A | CA1103555 | FLG | c.10077A>T (p.Gly3359=) c.9108+969A>T (n.9108+969A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304809T>C | CA420927064 | FLG | c.10077A>G (p.Gly3359=) c.9108+969A>G (n.9108+969A>G) | dbSNP |
1 | g.152304809T>G | CA420927065 | FLG | c.10077A>C (p.Gly3359=) c.9108+969A>C (n.9108+969A>C) | |
1 | g.152304809T= | CA2479947652 | FLG | c.10077A= (p.Gly3359=) c.9108+969A= (n.9108+969A=) | |
1 | g.152304810C>A | CA342073309 | FLG | c.10076G>T (p.Gly3359Val) c.9108+968G>T (n.9108+968G>T) | dbSNP |
1 | g.152304810C= | CA2479947653 | FLG | c.10076G= (p.Gly3359=) c.9108+968G= (n.9108+968G=) | |
1 | g.152304810C>G | CA342073307 | FLG | c.10076G>C (p.Gly3359Ala) c.9108+968G>C (n.9108+968G>C) | |
1 | g.152304810C>T | CA342073308 | FLG | c.10076G>A (p.Gly3359Glu) c.9108+968G>A (n.9108+968G>A) | COSMIC |
1 | g.152304811C>A | CA342073312 | FLG | c.10075G>T (p.Gly3359Ter) c.9108+967G>T (n.9108+967G>T) | |
1 | g.152304811C= | CA2479947654 | FLG | c.10075G= (p.Gly3359=) c.9108+967G= (n.9108+967G=) | |
1 | g.152304811C>G | CA342073315 | FLG | c.10075G>C (p.Gly3359Arg) c.9108+967G>C (n.9108+967G>C) | |
1 | g.152304811C>T | CA342073326 | FLG | c.10075G>A (p.Gly3359Arg) c.9108+967G>A (n.9108+967G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304812A= | CA1148560202 | FLG | c.10074T= (p.His3358=) c.9108+966T= (n.9108+966T=) | |
1 | g.152304812A>C | CA342073327 | FLG | c.10074T>G (p.His3358Gln) c.9108+966T>G (n.9108+966T>G) | |
1 | g.152304812A>G | CA1103556 | FLG | c.10074T>C (p.His3358=) c.9108+966T>C (n.9108+966T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304812A>T | CA342073328 | FLG | c.10074T>A (p.His3358Gln) c.9108+966T>A (n.9108+966T>A) | |
1 | g.152304813T>A | CA342073329 | FLG | c.10073A>T (p.His3358Leu) c.9108+965A>T (n.9108+965A>T) | |
1 | g.152304813T>C | CA1103557 | FLG | c.10073A>G (p.His3358Arg) c.9108+965A>G (n.9108+965A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304813T>G | CA342073330 | FLG | c.10073A>C (p.His3358Pro) c.9108+965A>C (n.9108+965A>C) | |
1 | g.152304813T= | CA1144320980 | FLG | c.10073A= (p.His3358=) c.9108+965A= (n.9108+965A=) | |
1 | g.152304814G>A | CA342073334 | FLG | c.10072C>T (p.His3358Tyr) c.9108+964C>T (n.9108+964C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304814G>C | CA342073340 | FLG | c.10072C>G (p.His3358Asp) c.9108+964C>G (n.9108+964C>G) | |
1 | g.152304814G= | CA2479947655 | FLG | c.10072C= (p.His3358=) c.9108+964C= (n.9108+964C=) | |
1 | g.152304814G>T | CA342073343 | FLG | c.10072C>A (p.His3358Asn) c.9108+964C>A (n.9108+964C>A) | |
1 | g.152304815G>A | CA420927080 | FLG | c.10071C>T (p.Gly3357=) c.9108+963C>T (n.9108+963C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304815G>C | CA420927081 | FLG | c.10071C>G (p.Gly3357=) c.9108+963C>G (n.9108+963C>G) | |
1 | g.152304815G= | CA2479947656 | FLG | c.10071C= (p.Gly3357=) c.9108+963C= (n.9108+963C=) | |
1 | g.152304815G>T | CA420927083 | FLG | c.10071C>A (p.Gly3357=) c.9108+963C>A (n.9108+963C>A) | gnomAD v4 |
1 | g.152304816C>A | CA1103559 | FLG | c.10070G>T (p.Gly3357Val) c.9108+962G>T (n.9108+962G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304816C= | CA2479947657 | FLG | c.10070G= (p.Gly3357=) c.9108+962G= (n.9108+962G=) | |
1 | g.152304816C>G | CA1103558 | FLG | c.10070G>C (p.Gly3357Ala) c.9108+962G>C (n.9108+962G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304816C>T | CA1103560 | FLG | c.10070G>A (p.Gly3357Asp) c.9108+962G>A (n.9108+962G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304817C>A | CA342073347 | FLG | c.10069G>T (p.Gly3357Cys) c.9108+961G>T (n.9108+961G>T) | |
1 | g.152304817C>G | CA342073350 | FLG | c.10069G>C (p.Gly3357Arg) c.9108+961G>C (n.9108+961G>C) | |
1 | g.152304817C>T | CA342073352 | FLG | c.10069G>A (p.Gly3357Ser) c.9108+961G>A (n.9108+961G>A) | |
1 | g.152304818_152304821dup | CA2647993544 | FLG | c.10066_10069dup (p.Gly3357ValfsTer19) c.9108+958_9108+961dup (n.9108+958_9108+961dup) | gnomAD v4 |
1 | g.152304818del | CA2647993545 | FLG | c.10068del (p.Gly3357AlafsTer?) c.9108+960del (n.9108+960del) | gnomAD v4 |
1 | g.152304818T>A | CA420927090 | FLG | c.10068A>T (p.Ser3356=) c.9108+960A>T (n.9108+960A>T) | |
1 | g.152304818T>C | CA420927096 | FLG | c.10068A>G (p.Ser3356=) c.9108+960A>G (n.9108+960A>G) | |
1 | g.152304818T>G | CA420927098 | FLG | c.10068A>C (p.Ser3356=) c.9108+960A>C (n.9108+960A>C) | dbSNP |
1 | g.152304818T= | CA2479947658 | FLG | c.10068A= (p.Ser3356=) c.9108+960A= (n.9108+960A=) | |
1 | g.152304819G>A | CA342073354 | FLG | c.10067C>T (p.Ser3356Leu) c.9108+959C>T (n.9108+959C>T) | |
1 | g.152304819G>C | CA1103561 | FLG | c.10067C>G (p.Ser3356Ter) c.9108+959C>G (n.9108+959C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304819G= | CA1144199452 | FLG | c.10067C= (p.Ser3356=) c.9108+959C= (n.9108+959C=) | |
1 | g.152304819G>T | CA342073357 | FLG | c.10067C>A (p.Ser3356Ter) c.9108+959C>A (n.9108+959C>A) | |
1 | g.152304820A= | CA2479947659 | FLG | c.10066T= (p.Ser3356=) c.9108+958T= (n.9108+958T=) | |
1 | g.152304820A>C | CA342073359 | FLG | c.10066T>G (p.Ser3356Ala) c.9108+958T>G (n.9108+958T>G) | |
1 | g.152304820A>G | CA342073361 | FLG | c.10066T>C (p.Ser3356Pro) c.9108+958T>C (n.9108+958T>C) | gnomAD v4 |
1 | g.152304820A>T | CA342073363 | FLG | c.10066T>A (p.Ser3356Thr) c.9108+958T>A (n.9108+958T>A) | dbSNP |
1 | g.152304821C>A | CA420927103 | FLG | c.10065G>T (p.Val3355=) c.9108+957G>T (n.9108+957G>T) | gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304821C>G | CA420927105 | FLG | c.10065G>C (p.Val3355=) c.9108+957G>C (n.9108+957G>C) | |
1 | g.152304821C>T | CA420927106 | FLG | c.10065G>A (p.Val3355=) c.9108+957G>A (n.9108+957G>A) | gnomAD v4 |
1 | g.152304821_152304825delinsCACTG | CA2479947660 | FLG | c.10061_10065delinsCAGTG (p.Ser3354=) c.9108+953_9108+957delinsCAGTG (n.9108+953_9108+957delinsCAGTG) | |
1 | g.152304822A= | CA2479947661 | FLG | c.10064T= (p.Val3355=) c.9108+956T= (n.9108+956T=) | |
1 | g.152304822A>C | CA342073368 | FLG | c.10064T>G (p.Val3355Gly) c.9108+956T>G (n.9108+956T>G) | gnomAD v4 |
1 | g.152304822A>G | CA342073376 | FLG | c.10064T>C (p.Val3355Ala) c.9108+956T>C (n.9108+956T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304822A>T | CA342073380 | FLG | c.10064T>A (p.Val3355Glu) c.9108+956T>A (n.9108+956T>A) | |
1 | g.152304826_152304829del | CA1103562 | FLG | c.10061_10064del (p.Ser3354CysfsTer?) c.9108+953_9108+956del (n.9108+953_9108+956del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304823C>A | CA342073401 | FLG | c.10063G>T (p.Val3355Leu) c.9108+955G>T (n.9108+955G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304823C= | CA2479947662 | FLG | c.10063G= (p.Val3355=) c.9108+955G= (n.9108+955G=) | |
1 | g.152304823C>G | CA342073399 | FLG | c.10063G>C (p.Val3355Leu) c.9108+955G>C (n.9108+955G>C) | gnomAD v4 |
1 | g.152304823C>T | CA342073388 | FLG | c.10063G>A (p.Val3355Met) c.9108+955G>A (n.9108+955G>A) | dbSNP gnomAD v4 |
1 | g.152304824T>A | CA420927112 | FLG | c.10062A>T (p.Ser3354=) c.9108+954A>T (n.9108+954A>T) | |
1 | g.152304824T>C | CA420927113 | FLG | c.10062A>G (p.Ser3354=) c.9108+954A>G (n.9108+954A>G) | |
1 | g.152304824T>G | CA420927114 | FLG | c.10062A>C (p.Ser3354=) c.9108+954A>C (n.9108+954A>C) | |
1 | g.152304825G>A | CA342073404 | FLG | c.10061C>T (p.Ser3354Leu) c.9108+953C>T (n.9108+953C>T) | |
1 | g.152304825G>C | CA342073408 | FLG | c.10061C>G (p.Ser3354Ter) c.9108+953C>G (n.9108+953C>G) | gnomAD v4 |
1 | g.152304825G>T | CA342073410 | FLG | c.10061C>A (p.Ser3354Ter) c.9108+953C>A (n.9108+953C>A) | |
1 | g.152304826A>C | CA342073411 | FLG | c.10060T>G (p.Ser3354Ala) c.9108+952T>G (n.9108+952T>G) | |
1 | g.152304826A>G | CA342073413 | FLG | c.10060T>C (p.Ser3354Pro) c.9108+952T>C (n.9108+952T>C) | gnomAD v4 |
1 | g.152304826A>T | CA342073415 | FLG | c.10060T>A (p.Ser3354Thr) c.9108+952T>A (n.9108+952T>A) | |
1 | g.152304827C>A | CA342073422 | FLG | c.10059G>T (p.Gln3353His) c.9108+951G>T (n.9108+951G>T) | dbSNP |
1 | g.152304827C= | CA2479947663 | FLG | c.10059G= (p.Gln3353=) c.9108+951G= (n.9108+951G=) | |
1 | g.152304827C>G | CA342073419 | FLG | c.10059G>C (p.Gln3353His) c.9108+951G>C (n.9108+951G>C) | |
1 | g.152304827C>T | CA420927125 | FLG | c.10059G>A (p.Gln3353=) c.9108+951G>A (n.9108+951G>A) | gnomAD v4 |
1 | g.152304828T>A | CA342073452 | FLG | c.10058A>T (p.Gln3353Leu) c.9108+950A>T (n.9108+950A>T) | |
1 | g.152304828T>C | CA342073453 | FLG | c.10058A>G (p.Gln3353Arg) c.9108+950A>G (n.9108+950A>G) | gnomAD v4 |
1 | g.152304828T>G | CA342073455 | FLG | c.10058A>C (p.Gln3353Pro) c.9108+950A>C (n.9108+950A>C) | |
1 | g.152304829G>A | CA342073457 | FLG | c.10057C>T (p.Gln3353Ter) c.9108+949C>T (n.9108+949C>T) | dbSNP gnomAD v4 |
1 | g.152304829G>C | CA342073461 | FLG | c.10057C>G (p.Gln3353Glu) c.9108+949C>G (n.9108+949C>G) | |
1 | g.152304829G= | CA2479947664 | FLG | c.10057C= (p.Gln3353=) c.9108+949C= (n.9108+949C=) | |
1 | g.152304829G>T | CA342073471 | FLG | c.10057C>A (p.Gln3353Lys) c.9108+949C>A (n.9108+949C>A) | |
1 | g.152304830T>A | CA420927136 | FLG | c.10056A>T (p.Thr3352=) c.9108+948A>T (n.9108+948A>T) | |
1 | g.152304830T>C | CA420927139 | FLG | c.10056A>G (p.Thr3352=) c.9108+948A>G (n.9108+948A>G) | dbSNP |
1 | g.152304830T>G | CA420927142 | FLG | c.10056A>C (p.Thr3352=) c.9108+948A>C (n.9108+948A>C) | |
1 | g.152304830T= | CA2479947665 | FLG | c.10056A= (p.Thr3352=) c.9108+948A= (n.9108+948A=) | |
1 | g.152304831G>A | CA342073487 | FLG | c.10055C>T (p.Thr3352Ile) c.9108+947C>T (n.9108+947C>T) | gnomAD v4 |
1 | g.152304831G>C | CA1103563 | FLG | c.10055C>G (p.Thr3352Arg) c.9108+947C>G (n.9108+947C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304831G= | CA1142310995 | FLG | c.10055C= (p.Thr3352=) c.9108+947C= (n.9108+947C=) | |
1 | g.152304831G>T | CA342073480 | FLG | c.10055C>A (p.Thr3352Lys) c.9108+947C>A (n.9108+947C>A) | gnomAD v4 |
1 | g.152304831_152304835delinsGTGTC | CA2479947666 | FLG | c.10051_10055delinsGACAC (p.Asp3351=) c.9108+943_9108+947delinsGACAC (n.9108+943_9108+947delinsGACAC) | |
1 | g.152304831_152304848delinsGTGTCTGACTCTTCTGAA | CA2479947667 | FLG | c.10038_10055delinsTTCAGAAGAGTCAGACAC (p.His3346=) c.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC (n.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC) | |
1 | g.152304832T>A | CA342073490 | FLG | c.10054A>T (p.Thr3352Ser) c.9108+946A>T (n.9108+946A>T) | |
1 | g.152304832T>C | CA1103565 | FLG | c.10054A>G (p.Thr3352Ala) c.9108+946A>G (n.9108+946A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304832T>G | CA342073495 | FLG | c.10054A>C (p.Thr3352Pro) c.9108+946A>C (n.9108+946A>C) | |
1 | g.152304832T= | CA2479947668 | FLG | c.10054A= (p.Thr3352=) c.9108+946A= (n.9108+946A=) | |
1 | g.152304832_152304837delinsTGTCTG | CA1148399511 | FLG | c.10049_10054delinsCAGACA (p.Ser3350=) c.9108+941_9108+946delinsCAGACA (n.9108+941_9108+946delinsCAGACA) | |
1 | g.152304834_152304837del | CA1103564 | FLG | c.10051_10054del (p.Asp3351HisfsTer?) c.9108+943_9108+946del (n.9108+943_9108+946del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304836_152304852del | CA889396928 | FLG | c.10038_10054del (p.Ser3347ThrfsTer22) c.9108+930_9108+946del (n.9108+930_9108+946del) | dbSNP gnomAD v4 |
1 | g.152304833G>A | CA1103566 | FLG | c.10053C>T (p.Asp3351=) c.9108+945C>T (n.9108+945C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304833G>C | CA342073501 | FLG | c.10053C>G (p.Asp3351Glu) c.9108+945C>G (n.9108+945C>G) | gnomAD v4 |
1 | g.152304833G= | CA1140532684 | FLG | c.10053C= (p.Asp3351=) c.9108+945C= (n.9108+945C=) | |
1 | g.152304833G>T | CA342073504 | FLG | c.10053C>A (p.Asp3351Glu) c.9108+945C>A (n.9108+945C>A) | gnomAD v4 |
1 | g.152304834T>A | CA342073509 | FLG | c.10052A>T (p.Asp3351Val) c.9108+944A>T (n.9108+944A>T) | |
1 | g.152304834T>C | CA342073513 | FLG | c.10052A>G (p.Asp3351Gly) c.9108+944A>G (n.9108+944A>G) | |
1 | g.152304834T>G | CA342073520 | FLG | c.10052A>C (p.Asp3351Ala) c.9108+944A>C (n.9108+944A>C) | |
1 | g.152304835C>A | CA342073524 | FLG | c.10051G>T (p.Asp3351Tyr) c.9108+943G>T (n.9108+943G>T) | |
1 | g.152304835C= | CA2479947669 | FLG | c.10051G= (p.Asp3351=) c.9108+943G= (n.9108+943G=) | |
1 | g.152304835C>G | CA342073526 | FLG | c.10051G>C (p.Asp3351His) c.9108+943G>C (n.9108+943G>C) | |
1 | g.152304835C>T | CA1103567 | FLG | c.10051G>A (p.Asp3351Asn) c.9108+943G>A (n.9108+943G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304836T>A | CA420927163 | FLG | c.10050A>T (p.Ser3350=) c.9108+942A>T (n.9108+942A>T) | |
1 | g.152304836T>C | CA420927166 | FLG | c.10050A>G (p.Ser3350=) c.9108+942A>G (n.9108+942A>G) | |
1 | g.152304836T>G | CA420927168 | FLG | c.10050A>C (p.Ser3350=) c.9108+942A>C (n.9108+942A>C) | gnomAD v4 |
1 | g.152304837G>A | CA342073536 | FLG | c.10049C>T (p.Ser3350Leu) c.9108+941C>T (n.9108+941C>T) | |
1 | g.152304837G>C | CA342073533 | FLG | c.10049C>G (p.Ser3350Ter) c.9108+941C>G (n.9108+941C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304837G= | CA2479947670 | FLG | c.10049C= (p.Ser3350=) c.9108+941C= (n.9108+941C=) | |
1 | g.152304837G>T | CA342073534 | FLG | c.10049C>A (p.Ser3350Ter) c.9108+941C>A (n.9108+941C>A) | |
1 | g.152304838A= | CA2479947671 | FLG | c.10048T= (p.Ser3350=) c.9108+940T= (n.9108+940T=) | |
1 | g.152304838A>C | CA342073539 | FLG | c.10048T>G (p.Ser3350Ala) c.9108+940T>G (n.9108+940T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304838A>G | CA342073543 | FLG | c.10048T>C (p.Ser3350Pro) c.9108+940T>C (n.9108+940T>C) | |
1 | g.152304838A>T | CA342073552 | FLG | c.10048T>A (p.Ser3350Thr) c.9108+940T>A (n.9108+940T>A) | |
1 | g.152304839C>A | CA342073562 | FLG | c.10047G>T (p.Glu3349Asp) c.9108+939G>T (n.9108+939G>T) | |
1 | g.152304839C= | CA2479947672 | FLG | c.10047G= (p.Glu3349=) c.9108+939G= (n.9108+939G=) | |
1 | g.152304839C>G | CA1103568 | FLG | c.10047G>C (p.Glu3349Asp) c.9108+939G>C (n.9108+939G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304839C>T | CA1103569 | FLG | c.10047G>A (p.Glu3349=) c.9108+939G>A (n.9108+939G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304840T>A | CA342073577 | FLG | c.10046A>T (p.Glu3349Val) c.9108+938A>T (n.9108+938A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304840T>C | CA342073569 | FLG | c.10046A>G (p.Glu3349Gly) c.9108+938A>G (n.9108+938A>G) | |
1 | g.152304840T>G | CA342073566 | FLG | c.10046A>C (p.Glu3349Ala) c.9108+938A>C (n.9108+938A>C) | |
1 | g.152304840T= | CA2479947673 | FLG | c.10046A= (p.Glu3349=) c.9108+938A= (n.9108+938A=) | |
1 | g.152304841C>A | CA342073580 | FLG | c.10045G>T (p.Glu3349Ter) c.9108+937G>T (n.9108+937G>T) | gnomAD v4 |
1 | g.152304841C>G | CA342073581 | FLG | c.10045G>C (p.Glu3349Gln) c.9108+937G>C (n.9108+937G>C) | |
1 | g.152304841C>T | CA342073582 | FLG | c.10045G>A (p.Glu3349Lys) c.9108+937G>A (n.9108+937G>A) | gnomAD v4 |
1 | g.152304842T>A | CA342073588 | FLG | c.10044A>T (p.Glu3348Asp) c.9108+936A>T (n.9108+936A>T) | |
1 | g.152304842T>C | CA1103570 | FLG | c.10044A>G (p.Glu3348=) c.9108+936A>G (n.9108+936A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304842T>G | CA1103571 | FLG | c.10044A>C (p.Glu3348Asp) c.9108+936A>C (n.9108+936A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304842T= | CA2479947674 | FLG | c.10044A= (p.Glu3348=) c.9108+936A= (n.9108+936A=) | |
1 | g.152304843T>A | CA342073595 | FLG | c.10043A>T (p.Glu3348Val) c.9108+935A>T (n.9108+935A>T) | |
1 | g.152304843T>C | CA342073603 | FLG | c.10043A>G (p.Glu3348Gly) c.9108+935A>G (n.9108+935A>G) | |
1 | g.152304843T>G | CA342073599 | FLG | c.10043A>C (p.Glu3348Ala) c.9108+935A>C (n.9108+935A>C) | |
1 | g.152304844C>A | CA342073609 | FLG | c.10042G>T (p.Glu3348Ter) c.9108+934G>T (n.9108+934G>T) | gnomAD v4 |
1 | g.152304844C>G | CA342073612 | FLG | c.10042G>C (p.Glu3348Gln) c.9108+934G>C (n.9108+934G>C) | |
1 | g.152304844C>T | CA342073617 | FLG | c.10042G>A (p.Glu3348Lys) c.9108+934G>A (n.9108+934G>A) | gnomAD v4 |
1 | g.152304845T>A | CA420927194 | FLG | c.10041A>T (p.Ser3347=) c.9108+933A>T (n.9108+933A>T) | |
1 | g.152304845T>C | CA420927192 | FLG | c.10041A>G (p.Ser3347=) c.9108+933A>G (n.9108+933A>G) | |
1 | g.152304845T>G | CA420927193 | FLG | c.10041A>C (p.Ser3347=) c.9108+933A>C (n.9108+933A>C) | |
1 | g.152304846G>A | CA1103572 | FLG | c.10040C>T (p.Ser3347Leu) c.9108+932C>T (n.9108+932C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304846G>C | CA342073622 | FLG | c.10040C>G (p.Ser3347Ter) c.9108+932C>G (n.9108+932C>G) | |
1 | g.152304846G= | CA2479947675 | FLG | c.10040C= (p.Ser3347=) c.9108+932C= (n.9108+932C=) | |
1 | g.152304846G>T | CA342073623 | FLG | c.10040C>A (p.Ser3347Ter) c.9108+932C>A (n.9108+932C>A) | |
1 | g.152304847A= | CA2479947676 | FLG | c.10039T= (p.Ser3347=) c.9108+931T= (n.9108+931T=) | |
1 | g.152304847A>C | CA342073626 | FLG | c.10039T>G (p.Ser3347Ala) c.9108+931T>G (n.9108+931T>G) | |
1 | g.152304847A>G | CA342073629 | FLG | c.10039T>C (p.Ser3347Pro) c.9108+931T>C (n.9108+931T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304847A>T | CA342073636 | FLG | c.10039T>A (p.Ser3347Thr) c.9108+931T>A (n.9108+931T>A) | |
1 | g.152304848del | CA2574057967 | FLG | c.10039del (p.Ser3347GlnfsTer?) c.9108+931del (n.9108+931del) | |
1 | g.152304848A= | CA2479947677 | FLG | c.10038T= (p.His3346=) c.9108+930T= (n.9108+930T=) | |
1 | g.152304848A>C | CA342073638 | FLG | c.10038T>G (p.His3346Gln) c.9108+930T>G (n.9108+930T>G) | |
1 | g.152304848A>G | CA420927203 | FLG | c.10038T>C (p.His3346=) c.9108+930T>C (n.9108+930T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304848A>T | CA342073646 | FLG | c.10038T>A (p.His3346Gln) c.9108+930T>A (n.9108+930T>A) | |
1 | g.152304849T>A | CA342073658 | FLG | c.10037A>T (p.His3346Leu) c.9108+929A>T (n.9108+929A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304849T>C | CA342073651 | FLG | c.10037A>G (p.His3346Arg) c.9108+929A>G (n.9108+929A>G) | |
1 | g.152304849T>G | CA342073654 | FLG | c.10037A>C (p.His3346Pro) c.9108+929A>C (n.9108+929A>C) | |
1 | g.152304849T= | CA2479947678 | FLG | c.10037A= (p.His3346=) c.9108+929A= (n.9108+929A=) |