Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70030496G>A | CA413448690 | EDA | c.769G>A (p.Gly257Arg) c.373G>A (p.Gly125Arg) | |
X | g.70030496G>C | CA16043329 | EDA | c.769G>C (p.Gly257Arg) c.373G>C (p.Gly125Arg) | ClinVar dbSNP |
X | g.70030496G= | CA2435980415 | EDA | c.769G= (p.Gly257=) c.373G= (p.Gly125=) | |
X | g.70030496G>T | CA413448691 | EDA | c.769G>T (p.Gly257Trp) c.373G>T (p.Gly125Trp) | |
X | g.70030497G>A | CA413448692 | EDA | c.770G>A (p.Gly257Glu) c.374G>A (p.Gly125Glu) | gnomAD v4 |
X | g.70030497G>C | CA413448693 | EDA | c.770G>C (p.Gly257Ala) c.374G>C (p.Gly125Ala) | |
X | g.70030497G>T | CA413448694 | EDA | c.770G>T (p.Gly257Val) c.374G>T (p.Gly125Val) | |
X | g.70030498G>A | CA517013110 | EDA | c.771G>A (p.Gly257=) c.375G>A (p.Gly125=) | ClinVar dbSNP |
X | g.70030498G>C | CA517013112 | EDA | c.771G>C (p.Gly257=) c.375G>C (p.Gly125=) | |
X | g.70030498G>T | CA517013114 | EDA | c.771G>T (p.Gly257=) c.375G>T (p.Gly125=) | gnomAD v4 |
X | g.70030499T>A | CA413448696 | EDA | c.772T>A (p.Ser258Thr) c.376T>A (p.Ser126Thr) | |
X | g.70030499T>C | CA413448697 | EDA | c.772T>C (p.Ser258Pro) c.376T>C (p.Ser126Pro) | |
X | g.70030499T>G | CA413448695 | EDA | c.772T>G (p.Ser258Ala) c.376T>G (p.Ser126Ala) | |
X | g.70030500C>A | CA413448699 | EDA | c.773C>A (p.Ser258Ter) c.377C>A (p.Ser126Ter) | |
X | g.70030500C>G | CA413448698 | EDA | c.773C>G (p.Ser258Ter) c.377C>G (p.Ser126Ter) | |
X | g.70030500C>T | CA413448700 | EDA | c.773C>T (p.Ser258Leu) c.377C>T (p.Ser126Leu) | |
X | g.70030501A>C | CA517013122 | EDA | c.774A>C (p.Ser258=) c.378A>C (p.Ser126=) | gnomAD v4 |
X | g.70030501A>G | CA517013123 | EDA | c.774A>G (p.Ser258=) c.378A>G (p.Ser126=) | |
X | g.70030501A>T | CA517013125 | EDA | c.774A>T (p.Ser258=) c.378A>T (p.Ser126=) | |
X | g.70030502G>A | CA413448701 | EDA | c.775G>A (p.Ala259Thr) c.379G>A (p.Ala127Thr) | |
X | g.70030502G>C | CA413448703 | EDA | c.775G>C (p.Ala259Pro) c.379G>C (p.Ala127Pro) | |
X | g.70030502G>T | CA413448702 | EDA | c.775G>T (p.Ala259Ser) c.379G>T (p.Ala127Ser) | gnomAD v4 |
X | g.70030503C>A | CA10586172 | EDA | c.776C>A (p.Ala259Glu) c.380C>A (p.Ala127Glu) | ClinVar dbSNP |
X | g.70030503C= | CA2435980416 | EDA | c.776C= (p.Ala259=) c.380C= (p.Ala127=) | |
X | g.70030503C>G | CA413448704 | EDA | c.776C>G (p.Ala259Gly) c.380C>G (p.Ala127Gly) | |
X | g.70030503C>T | CA413448705 | EDA | c.776C>T (p.Ala259Val) c.380C>T (p.Ala127Val) | dbSNP |
X | g.70030504A= | CA2435980417 | EDA | c.777A= (p.Ala259=) c.381A= (p.Ala127=) | |
X | g.70030504A>C | CA10439000 | EDA | c.777A>C (p.Ala259=) c.381A>C (p.Ala127=) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.70030504A>G | CA517013135 | EDA | c.777A>G (p.Ala259=) c.381A>G (p.Ala127=) | ClinVar dbSNP |
X | g.70030504A>T | CA517013137 | EDA | c.777A>T (p.Ala259=) c.381A>T (p.Ala127=) | |
X | g.70030505A>C | CA413448706 | EDA | c.778A>C (p.Ile260Leu) c.382A>C (p.Ile128Leu) | |
X | g.70030505A>G | CA413448707 | EDA | c.778A>G (p.Ile260Val) c.382A>G (p.Ile128Val) | |
X | g.70030505A>T | CA413448708 | EDA | c.778A>T (p.Ile260Phe) c.382A>T (p.Ile128Phe) | |
X | g.70030506T>A | CA413448709 | EDA | c.779T>A (p.Ile260Asn) c.383T>A (p.Ile128Asn) | |
X | g.70030506T>C | CA413448710 | EDA | c.779T>C (p.Ile260Thr) c.383T>C (p.Ile128Thr) | |
X | g.70030506T>G | CA413448711 | EDA | c.779T>G (p.Ile260Ser) c.383T>G (p.Ile128Ser) | |
X | g.70030507T>A | CA517013163 | EDA | c.780T>A (p.Ile260=) c.384T>A (p.Ile128=) | |
X | g.70030507T>C | CA517013165 | EDA | c.780T>C (p.Ile260=) c.384T>C (p.Ile128=) | |
X | g.70030507T>G | CA413448712 | EDA | c.780T>G (p.Ile260Met) c.384T>G (p.Ile128Met) | |
X | g.70030508C>A | CA413448715 | EDA | c.781C>A (p.Gln261Lys) c.385C>A (p.Gln129Lys) | gnomAD v4 |
X | g.70030508C>G | CA413448713 | EDA | c.781C>G (p.Gln261Glu) c.385C>G (p.Gln129Glu) | |
X | g.70030508C>T | CA413448714 | EDA | c.781C>T (p.Gln261Ter) c.385C>T (p.Gln129Ter) | |
X | g.70030509A>C | CA413448716 | EDA | c.782A>C (p.Gln261Pro) c.386A>C (p.Gln129Pro) | |
X | g.70030509A>G | CA413448717 | EDA | c.782A>G (p.Gln261Arg) c.386A>G (p.Gln129Arg) | gnomAD v4 |
X | g.70030509A>T | CA413448718 | EDA | c.782A>T (p.Gln261Leu) c.386A>T (p.Gln129Leu) | |
X | g.70030510A>C | CA413448719 | EDA | c.783A>C (p.Gln261His) c.387A>C (p.Gln129His) | |
X | g.70030510A>G | CA517013177 | EDA | c.783A>G (p.Gln261=) c.387A>G (p.Gln129=) | |
X | g.70030510A>T | CA413448720 | EDA | c.783A>T (p.Gln261His) c.387A>T (p.Gln129His) | |
X | g.70030511G>A | CA413448721 | EDA | c.784G>A (p.Val262Ile) c.388G>A (p.Val130Ile) | dbSNP gnomAD v2 |
X | g.70030511G>C | CA413448722 | EDA | c.784G>C (p.Val262Leu) c.388G>C (p.Val130Leu) |