Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304740A= | CA2479947610 | FLG | c.10146T= (p.Arg3382=) c.9109-907T= (n.9109-907T=) | |
1 | g.152304740A>C | CA420926800 | FLG | c.10146T>G (p.Arg3382=) c.9109-907T>G (n.9109-907T>G) | |
1 | g.152304740A>G | CA420926801 | FLG | c.10146T>C (p.Arg3382=) c.9109-907T>C (n.9109-907T>C) | dbSNP gnomAD v4 |
1 | g.152304740A>T | CA420926802 | FLG | c.10146T>A (p.Arg3382=) c.9109-907T>A (n.9109-907T>A) | |
1 | g.152304741C>A | CA342072868 | FLG | c.10145G>T (p.Arg3382Leu) c.9109-908G>T (n.9109-908G>T) | gnomAD v4 |
1 | g.152304741C= | CA1145091696 | FLG | c.10145G= (p.Arg3382=) c.9109-908G= (n.9109-908G=) | |
1 | g.152304741C>G | CA342072871 | FLG | c.10145G>C (p.Arg3382Pro) c.9109-908G>C (n.9109-908G>C) | |
1 | g.152304741C>T | CA1103513 | FLG | c.10145G>A (p.Arg3382His) c.9109-908G>A (n.9109-908G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304742G>A | CA1103514 | FLG | c.10144C>T (p.Arg3382Cys) c.9109-909C>T (n.9109-909C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304742G>C | CA342072874 | FLG | c.10144C>G (p.Arg3382Gly) c.9109-909C>G (n.9109-909C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304742G= | CA1142154828 | FLG | c.10144C= (p.Arg3382=) c.9109-909C= (n.9109-909C=) | |
1 | g.152304742G>T | CA342072876 | FLG | c.10144C>A (p.Arg3382Ser) c.9109-909C>A (n.9109-909C>A) | gnomAD v4 |
1 | g.152304743T>A | CA420926810 | FLG | c.10143A>T (p.Gly3381=) c.9109-910A>T (n.9109-910A>T) | |
1 | g.152304743T>C | CA420926812 | FLG | c.10143A>G (p.Gly3381=) c.9109-910A>G (n.9109-910A>G) | |
1 | g.152304743T>G | CA420926807 | FLG | c.10143A>C (p.Gly3381=) c.9109-910A>C (n.9109-910A>C) | |
1 | g.152304744C>A | CA342072883 | FLG | c.10142G>T (p.Gly3381Val) c.9109-911G>T (n.9109-911G>T) | |
1 | g.152304744C= | CA1141620137 | FLG | c.10142G= (p.Gly3381=) c.9109-911G= (n.9109-911G=) | |
1 | g.152304744C>G | CA342072880 | FLG | c.10142G>C (p.Gly3381Ala) c.9109-911G>C (n.9109-911G>C) | |
1 | g.152304744C>T | CA1103515 | FLG | c.10142G>A (p.Gly3381Glu) c.9109-911G>A (n.9109-911G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304745C>A | CA342072888 | FLG | c.10141G>T (p.Gly3381Ter) c.9109-912G>T (n.9109-912G>T) | dbSNP |
1 | g.152304745C= | CA2479947611 | FLG | c.10141G= (p.Gly3381=) c.9109-912G= (n.9109-912G=) | |
1 | g.152304745C>G | CA1103516 | FLG | c.10141G>C (p.Gly3381Arg) c.9109-912G>C (n.9109-912G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304745C>T | CA342072891 | FLG | c.10141G>A (p.Gly3381Arg) c.9109-912G>A (n.9109-912G>A) | |
1 | g.152304746A= | CA2479947612 | FLG | c.10140T= (p.Ser3380=) c.9109-913T= (n.9109-913T=) | |
1 | g.152304746A>C | CA420926817 | FLG | c.10140T>G (p.Ser3380=) c.9109-913T>G (n.9109-913T>G) | |
1 | g.152304746A>G | CA420926815 | FLG | c.10140T>C (p.Ser3380=) c.9109-913T>C (n.9109-913T>C) | |
1 | g.152304746A>T | CA1103517 | FLG | c.10140T>A (p.Ser3380=) c.9109-913T>A (n.9109-913T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304747G>A | CA342072895 | FLG | c.10139C>T (p.Ser3380Phe) c.9109-914C>T (n.9109-914C>T) | dbSNP |
1 | g.152304747G>C | CA342072897 | FLG | c.10139C>G (p.Ser3380Cys) c.9109-914C>G (n.9109-914C>G) | |
1 | g.152304747G= | CA2479947613 | FLG | c.10139C= (p.Ser3380=) c.9109-914C= (n.9109-914C=) | |
1 | g.152304747G>T | CA342072899 | FLG | c.10139C>A (p.Ser3380Tyr) c.9109-914C>A (n.9109-914C>A) | |
1 | g.152304748A= | CA2479947614 | FLG | c.10138T= (p.Ser3380=) c.9109-915T= (n.9109-915T=) | |
1 | g.152304748A>C | CA342072904 | FLG | c.10138T>G (p.Ser3380Ala) c.9109-915T>G (n.9109-915T>G) | |
1 | g.152304748A>G | CA342072906 | FLG | c.10138T>C (p.Ser3380Pro) c.9109-915T>C (n.9109-915T>C) | |
1 | g.152304748A>T | CA342072908 | FLG | c.10138T>A (p.Ser3380Thr) c.9109-915T>A (n.9109-915T>A) | dbSNP gnomAD v4 |
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) |