Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.152304836_152304852del | CA889396928 | FLG | c.10038_10054del (p.Ser3347ThrfsTer22) c.9108+930_9108+946del (n.9108+930_9108+946del) | dbSNP gnomAD v4 |
1 | g.152304852C>A | CA342073679 | FLG | c.10034G>T (p.Gly3345Val) c.9108+926G>T (n.9108+926G>T) | |
1 | g.152304852C= | CA1144477662 | FLG | c.10034G= (p.Gly3345=) c.9108+926G= (n.9108+926G=) | |
1 | g.152304852C>G | CA342073682 | FLG | c.10034G>C (p.Gly3345Ala) c.9108+926G>C (n.9108+926G>C) | |
1 | g.152304852C>T | CA30602494 | FLG | c.10034G>A (p.Gly3345Glu) c.9108+926G>A (n.9108+926G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304853C>A | CA342073697 | FLG | c.10033G>T (p.Gly3345Ter) c.9108+925G>T (n.9108+925G>T) | dbSNP gnomAD v4 |
1 | g.152304853C= | CA2479947681 | FLG | c.10033G= (p.Gly3345=) c.9108+925G= (n.9108+925G=) | |
1 | g.152304853C>G | CA342073699 | FLG | c.10033G>C (p.Gly3345Arg) c.9108+925G>C (n.9108+925G>C) | |
1 | g.152304853C>T | CA342073703 | FLG | c.10033G>A (p.Gly3345Arg) c.9108+925G>A (n.9108+925G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304854C>A | CA342073709 | FLG | c.10032G>T (p.Glu3344Asp) c.9108+924G>T (n.9108+924G>T) | |
1 | g.152304854C>G | CA342073713 | FLG | c.10032G>C (p.Glu3344Asp) c.9108+924G>C (n.9108+924G>C) | |
1 | g.152304854C>T | CA420927218 | FLG | c.10032G>A (p.Glu3344=) c.9108+924G>A (n.9108+924G>A) | dbSNP |
1 | g.152304855T>A | CA342073718 | FLG | c.10031A>T (p.Glu3344Val) c.9108+923A>T (n.9108+923A>T) | |
1 | g.152304855T>C | CA342073720 | FLG | c.10031A>G (p.Glu3344Gly) c.9108+923A>G (n.9108+923A>G) | |
1 | g.152304855T>G | CA342073722 | FLG | c.10031A>C (p.Glu3344Ala) c.9108+923A>C (n.9108+923A>C) | dbSNP gnomAD v4 |
1 | g.152304855T= | CA2479947682 | FLG | c.10031A= (p.Glu3344=) c.9108+923A= (n.9108+923A=) | |
1 | g.152304856C>A | CA342073732 | FLG | c.10030G>T (p.Glu3344Ter) c.9108+922G>T (n.9108+922G>T) | |
1 | g.152304856C= | CA2479947683 | FLG | c.10030G= (p.Glu3344=) c.9108+922G= (n.9108+922G=) | |
1 | g.152304856C>G | CA342073726 | FLG | c.10030G>C (p.Glu3344Gln) c.9108+922G>C (n.9108+922G>C) | |
1 | g.152304856C>T | CA1103573 | FLG | c.10030G>A (p.Glu3344Lys) c.9108+922G>A (n.9108+922G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304857A= | CA2479947684 | FLG | c.10029T= (p.Ser3343=) c.9108+921T= (n.9108+921T=) | |
1 | g.152304857A>C | CA342073736 | FLG | c.10029T>G (p.Ser3343Arg) c.9108+921T>G (n.9108+921T>G) | |
1 | g.152304857A>G | CA420927222 | FLG | c.10029T>C (p.Ser3343=) c.9108+921T>C (n.9108+921T>C) | |
1 | g.152304857A>T | CA342073739 | FLG | c.10029T>A (p.Ser3343Arg) c.9108+921T>A (n.9108+921T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304858C>A | CA342073744 | FLG | c.10028G>T (p.Ser3343Ile) c.9108+920G>T (n.9108+920G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304858C= | CA2479947685 | FLG | c.10028G= (p.Ser3343=) c.9108+920G= (n.9108+920G=) | |
1 | g.152304858C>G | CA342073746 | FLG | c.10028G>C (p.Ser3343Thr) c.9108+920G>C (n.9108+920G>C) | gnomAD v4 |
1 | g.152304858C>T | CA1103574 | FLG | c.10028G>A (p.Ser3343Asn) c.9108+920G>A (n.9108+920G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304859T>A | CA342073753 | FLG | c.10027A>T (p.Ser3343Cys) c.9108+919A>T (n.9108+919A>T) | |
1 | g.152304859T>C | CA1103575 | FLG | c.10027A>G (p.Ser3343Gly) c.9108+919A>G (n.9108+919A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304859T>G | CA342073756 | FLG | c.10027A>C (p.Ser3343Arg) c.9108+919A>C (n.9108+919A>C) | |
1 | g.152304859T= | CA2479947686 | FLG | c.10027A= (p.Ser3343=) c.9108+919A= (n.9108+919A=) | |
1 | g.152304860A= | CA1143900182 | FLG | c.10026T= (p.Asp3342=) c.9108+918T= (n.9108+918T=) | |
1 | g.152304860A>C | CA342073759 | FLG | c.10026T>G (p.Asp3342Glu) c.9108+918T>G (n.9108+918T>G) | |
1 | g.152304860A>G | CA1103576 | FLG | c.10026T>C (p.Asp3342=) c.9108+918T>C (n.9108+918T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304860A>T | CA342073764 | FLG | c.10026T>A (p.Asp3342Glu) c.9108+918T>A (n.9108+918T>A) | |
1 | g.152304861T>A | CA342073776 | FLG | c.10025A>T (p.Asp3342Val) c.9108+917A>T (n.9108+917A>T) | |
1 | g.152304861T>C | CA342073773 | FLG | c.10025A>G (p.Asp3342Gly) c.9108+917A>G (n.9108+917A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304861T>G | CA342073769 | FLG | c.10025A>C (p.Asp3342Ala) c.9108+917A>C (n.9108+917A>C) | |
1 | g.152304861T= | CA2479947687 | FLG | c.10025A= (p.Asp3342=) c.9108+917A= (n.9108+917A=) | |
1 | g.152304862C>A | CA342073784 | FLG | c.10024G>T (p.Asp3342Tyr) c.9108+916G>T (n.9108+916G>T) | |
1 | g.152304862C>G | CA342073778 | FLG | c.10024G>C (p.Asp3342His) c.9108+916G>C (n.9108+916G>C) | |
1 | g.152304862C>T | CA342073781 | FLG | c.10024G>A (p.Asp3342Asn) c.9108+916G>A (n.9108+916G>A) | gnomAD v4 |
1 | g.152304863A= | CA2479947688 | FLG | c.10023T= (p.Ser3341=) c.9108+915T= (n.9108+915T=) | |
1 | g.152304863A>C | CA342073788 | FLG | c.10023T>G (p.Ser3341Arg) c.9108+915T>G (n.9108+915T>G) | |
1 | g.152304863A>G | CA420927233 | FLG | c.10023T>C (p.Ser3341=) c.9108+915T>C (n.9108+915T>C) | |
1 | g.152304863A>T | CA1103577 | FLG | c.10023T>A (p.Ser3341Arg) c.9108+915T>A (n.9108+915T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304864C>A | CA342073794 | FLG | c.10022G>T (p.Ser3341Ile) c.9108+914G>T (n.9108+914G>T) | |
1 | g.152304864C>G | CA342073796 | FLG | c.10022G>C (p.Ser3341Thr) c.9108+914G>C (n.9108+914G>C) | gnomAD v4 |