Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |