Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152313999C>A | CA342104457 | FLG | c.887G>T (p.Arg296Ile) n.541C>A | COSMIC |
1 | g.152313999C= | CA2479952770 | FLG | c.887G= (p.Arg296=) n.541C= | |
1 | g.152313999C>G | CA342104451 | FLG | c.887G>C (p.Arg296Thr) n.541C>G | gnomAD v4 |
1 | g.152313999C>T | CA342104453 | FLG | c.887G>A (p.Arg296Lys) n.541C>T | dbSNP |
1 | g.152314000T>A | CA342104459 | FLG | c.886A>T (p.Arg296Ter) n.542T>A | |
1 | g.152314000T>C | CA1107879 | FLG | c.886A>G (p.Arg296Gly) n.542T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152314000T>G | CA420932249 | FLG | c.886A>C (p.Arg296=) n.542T>G | |
1 | g.152314000T= | CA1141191994 | FLG | c.886A= (p.Arg296=) n.542T= | |
1 | g.152314001G>A | CA420932250 | FLG | c.885C>T (p.Ser295=) n.543G>A | gnomAD v4 |
1 | g.152314001G>C | CA420932251 | FLG | c.885C>G (p.Ser295=) n.543G>C | |
1 | g.152314001G>T | CA420932252 | FLG | c.885C>A (p.Ser295=) n.543G>T | |
1 | g.152314002G>A | CA342104461 | FLG | c.884C>T (p.Ser295Phe) n.544G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152314002G>C | CA342104463 | FLG | c.884C>G (p.Ser295Cys) n.544G>C | |
1 | g.152314002G= | CA2479952771 | FLG | c.884C= (p.Ser295=) n.544G= | |
1 | g.152314002G>T | CA342104464 | FLG | c.884C>A (p.Ser295Tyr) n.544G>T | gnomAD v4 |
1 | g.152314003A>C | CA342104466 | FLG | c.883T>G (p.Ser295Ala) n.545A>C | |
1 | g.152314003A>G | CA342104468 | FLG | c.883T>C (p.Ser295Pro) n.545A>G | |
1 | g.152314003A>T | CA342104470 | FLG | c.883T>A (p.Ser295Thr) n.545A>T | gnomAD v4 |
1 | g.152314004T>A | CA420932257 | FLG | c.882A>T (p.Gly294=) n.546T>A | gnomAD v4 |
1 | g.152314004T>C | CA420932259 | FLG | c.882A>G (p.Gly294=) n.546T>C | |
1 | g.152314004T>G | CA1107880 | FLG | c.882A>C (p.Gly294=) n.546T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152314004T= | CA2479952772 | FLG | c.882A= (p.Gly294=) n.546T= | |
1 | g.152314005C>A | CA342104477 | FLG | c.881G>T (p.Gly294Val) n.547C>A | |
1 | g.152314005C= | CA2479952773 | FLG | c.881G= (p.Gly294=) n.547C= | |
1 | g.152314005C>G | CA342104479 | FLG | c.881G>C (p.Gly294Ala) n.547C>G | |
1 | g.152314005C>T | CA342104481 | FLG | c.881G>A (p.Gly294Glu) n.547C>T | dbSNP |
1 | g.152314006C>A | CA342104489 | FLG | c.880G>T (p.Gly294Ter) n.548C>A | |
1 | g.152314006C>G | CA342104487 | FLG | c.880G>C (p.Gly294Arg) n.548C>G | |
1 | g.152314006C>T | CA342104485 | FLG | c.880G>A (p.Gly294Arg) n.548C>T | gnomAD v4 COSMIC |
1 | g.152314007C>A | CA342104491 | FLG | c.879G>T (p.Arg293Ser) n.549C>A | |
1 | g.152314007C= | CA2479952774 | FLG | c.879G= (p.Arg293=) n.549C= | |
1 | g.152314007C>G | CA342104493 | FLG | c.879G>C (p.Arg293Ser) n.549C>G | gnomAD v4 |
1 | g.152314007C>T | CA420932262 | FLG | c.879G>A (p.Arg293=) n.549C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152314008C>A | CA342104496 | FLG | c.878G>T (p.Arg293Met) n.550C>A | |
1 | g.152314008C>G | CA342104498 | FLG | c.878G>C (p.Arg293Thr) n.550C>G | |
1 | g.152314008C>T | CA342104500 | FLG | c.878G>A (p.Arg293Lys) n.550C>T | gnomAD v4 COSMIC |
1 | g.152314009T>A | CA342104502 | FLG | c.877A>T (p.Arg293Trp) n.551T>A | gnomAD v4 |
1 | g.152314009T>C | CA342104504 | FLG | c.877A>G (p.Arg293Gly) n.551T>C | |
1 | g.152314009T>G | CA420932263 | FLG | c.877A>C (p.Arg293=) n.551T>G | |
1 | g.152314010A>C | CA420932267 | FLG | c.876T>G (p.Arg292=) n.552A>C | |
1 | g.152314010A>G | CA420932268 | FLG | c.876T>C (p.Arg292=) n.552A>G | |
1 | g.152314010A>T | CA420932269 | FLG | c.876T>A (p.Arg292=) n.552A>T | |
1 | g.152314010dup | CA2582343011 | FLG | c.876dup (p.Arg293Ter) n.552dup | |
1 | g.152314011C>A | CA342104507 | FLG | c.875G>T (p.Arg292Leu) n.553C>A | gnomAD v4 COSMIC |
1 | g.152314011C= | CA1143421823 | FLG | c.875G= (p.Arg292=) n.553C= | |
1 | g.152314011C>G | CA342104508 | FLG | c.875G>C (p.Arg292Pro) n.553C>G | dbSNP |
1 | g.152314011C>T | CA1107881 | FLG | c.875G>A (p.Arg292His) n.553C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152314012G>A | CA1107882 | FLG | c.874C>T (p.Arg292Cys) n.554G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152314012G>C | CA342104510 | FLG | c.874C>G (p.Arg292Gly) n.554G>C | |
1 | g.152314012G= | CA2479952775 | FLG | c.874C= (p.Arg292=) n.554G= |