| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033475G>A | CA261508 | EDA | c.871G>A (p.Gly291Arg) c.862G>A (p.Gly288Arg) c.475G>A (p.Gly159Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.70033475G>C | CA413448923 | EDA | c.871G>C (p.Gly291Arg) c.862G>C (p.Gly288Arg) c.475G>C (p.Gly159Arg) | ClinVar |
| X | g.70033475G= | CA2435981311 | EDA | c.871G= (p.Gly291=) c.862G= (p.Gly288=) c.475G= (p.Gly159=) | |
| X | g.70033475G>T | CA413448924 | EDA | c.871G>T (p.Gly291Trp) c.862G>T (p.Gly288Trp) c.475G>T (p.Gly159Trp) | |
| X | g.70033476G>A | CA10603736 | EDA | c.872G>A (p.Gly291Glu) c.863G>A (p.Gly288Glu) c.476G>A (p.Gly159Glu) | ClinVar dbSNP |
| X | g.70033476G>C | CA413448925 | EDA | c.872G>C (p.Gly291Ala) c.863G>C (p.Gly288Ala) c.476G>C (p.Gly159Ala) | |
| X | g.70033476G= | CA2435981312 | EDA | c.872G= (p.Gly291=) c.863G= (p.Gly288=) c.476G= (p.Gly159=) | |
| X | g.70033476G>T | CA413448926 | EDA | c.872G>T (p.Gly291Val) c.863G>T (p.Gly288Val) c.476G>T (p.Gly159Val) | ClinVar |
| X | g.70033476_70033494delinsGGGAGCTGGAGGTACTGGT | CA2435981313 | EDA | c.872_890delinsGGGAGCTGGAGGTACTGGT (p.Gly291=) c.863_881delinsGGGAGCTGGAGGTACTGGT (p.Gly288=) c.476_494delinsGGGAGCTGGAGGTACTGGT (p.Gly159=) c.872_882+8delinsGGGAGCTGGAGGTACTGGT | |
| X | g.70033477G>A | CA517014129 | EDA | c.873G>A (p.Gly291=) c.864G>A (p.Gly288=) c.477G>A (p.Gly159=) | ClinVar |
| X | g.70033477G>C | CA517014131 | EDA | c.873G>C (p.Gly291=) c.864G>C (p.Gly288=) c.477G>C (p.Gly159=) | |
| X | g.70033477G>T | CA517014133 | EDA | c.873G>T (p.Gly291=) c.864G>T (p.Gly288=) c.477G>T (p.Gly159=) | |
| X | g.70033480_70033497del | CA915951155 | EDA | c.876_893del (p.Glu292_Val297del) c.867_884del (p.Glu289_Val294del) c.480_497del (p.Glu160_Val165del) c.876_882+11del | ClinVar dbSNP |
| X | g.70033479_70033500del | CA2695234457 | EDA | c.875_896del (p.Glu292AlafsTer9) c.875_896del (p.Glu292AlafsTer?) c.866_887del (p.Glu289AlafsTer?) c.479_500del (p.Glu160AlafsTer9) c.866_887del (p.Glu289AlafsTer9) c.875_882+14del | |
| X | g.70033478G>A | CA413448928 | EDA | c.874G>A (p.Glu292Lys) c.865G>A (p.Glu289Lys) c.478G>A (p.Glu160Lys) | COSMIC |
| X | g.70033478G>C | CA413448929 | EDA | c.874G>C (p.Glu292Gln) c.865G>C (p.Glu289Gln) c.478G>C (p.Glu160Gln) | |
| X | g.70033478G>T | CA413448927 | EDA | c.874G>T (p.Glu292Ter) c.865G>T (p.Glu289Ter) c.478G>T (p.Glu160Ter) | |
| X | g.70033479A>C | CA413448930 | EDA | c.875A>C (p.Glu292Ala) c.866A>C (p.Glu289Ala) c.479A>C (p.Glu160Ala) | |
| X | g.70033479A>G | CA413448931 | EDA | c.875A>G (p.Glu292Gly) c.866A>G (p.Glu289Gly) c.479A>G (p.Glu160Gly) | |
| X | g.70033479A>T | CA413448932 | EDA | c.875A>T (p.Glu292Val) c.866A>T (p.Glu289Val) c.479A>T (p.Glu160Val) | |
| X | g.70033480G>A | CA517014141 | EDA | c.876G>A (p.Glu292=) c.867G>A (p.Glu289=) c.480G>A (p.Glu160=) | gnomAD v4 |
| X | g.70033480G>C | CA413448933 | EDA | c.876G>C (p.Glu292Asp) c.867G>C (p.Glu289Asp) c.480G>C (p.Glu160Asp) | |
| X | g.70033480G>T | CA413448934 | EDA | c.876G>T (p.Glu292Asp) c.867G>T (p.Glu289Asp) c.480G>T (p.Glu160Asp) | |
| X | g.70033481C>A | CA413448935 | EDA | c.877C>A (p.Leu293Met) c.868C>A (p.Leu290Met) c.481C>A (p.Leu161Met) | |
| X | g.70033481C= | CA2435981314 | EDA | c.877C= (p.Leu293=) c.868C= (p.Leu290=) c.481C= (p.Leu161=) | |
| X | g.70033481C>G | CA413448936 | EDA | c.877C>G (p.Leu293Val) c.868C>G (p.Leu290Val) c.481C>G (p.Leu161Val) | |
| X | g.70033481C>T | CA517014146 | EDA | c.877C>T (p.Leu293=) c.868C>T (p.Leu290=) c.481C>T (p.Leu161=) | dbSNP gnomAD v4 |
| X | g.70033482T>A | CA413448937 | EDA | c.878T>A (p.Leu293Gln) c.869T>A (p.Leu290Gln) c.482T>A (p.Leu161Gln) | |
| X | g.70033482T>C | CA413448939 | EDA | c.878T>C (p.Leu293Pro) c.869T>C (p.Leu290Pro) c.482T>C (p.Leu161Pro) | |
| X | g.70033482T>G | CA413448938 | EDA | c.878T>G (p.Leu293Arg) c.869T>G (p.Leu290Arg) c.482T>G (p.Leu161Arg) | ClinVar |
| X | g.70033483G>A | CA10439020 | EDA | c.879G>A (p.Leu293=) c.870G>A (p.Leu290=) c.483G>A (p.Leu161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033483G>C | CA517014153 | EDA | c.879G>C (p.Leu293=) c.870G>C (p.Leu290=) c.483G>C (p.Leu161=) | |
| X | g.70033483G= | CA2435981315 | EDA | c.879G= (p.Leu293=) c.870G= (p.Leu290=) c.483G= (p.Leu161=) | |
| X | g.70033483G>T | CA517014155 | EDA | c.879G>T (p.Leu293=) c.870G>T (p.Leu290=) c.483G>T (p.Leu161=) | |
| X | g.70033484G>A | CA413448940 | EDA | c.880G>A (p.Glu294Lys) c.871G>A (p.Glu291Lys) c.484G>A (p.Glu162Lys) | |
| X | g.70033484G>C | CA413448941 | EDA | c.880G>C (p.Glu294Gln) c.871G>C (p.Glu291Gln) c.484G>C (p.Glu162Gln) | |
| X | g.70033484G>T | CA413448942 | EDA | c.880G>T (p.Glu294Ter) c.871G>T (p.Glu291Ter) c.484G>T (p.Glu162Ter) | |
| X | g.70033485A= | CA2435981316 | EDA | c.881A= (p.Glu294=) c.872A= (p.Glu291=) c.485A= (p.Glu162=) | |
| X | g.70033485A>C | CA413448943 | EDA | c.881A>C (p.Glu294Ala) c.872A>C (p.Glu291Ala) c.485A>C (p.Glu162Ala) | |
| X | g.70033485A>G | CA413448944 | EDA | c.881A>G (p.Glu294Gly) c.872A>G (p.Glu291Gly) c.485A>G (p.Glu162Gly) | |
| X | g.70033485A>T | CA133757 | EDA | c.881A>T (p.Glu294Val) c.872A>T (p.Glu291Val) c.485A>T (p.Glu162Val) | ClinVar dbSNP |
| X | g.70033486_70033489del | CA2695234458 | EDA | c.882_885del (p.Glu294AspfsTer13) c.882_885del (p.Glu294AspfsTer?) c.873_876del (p.Glu291AspfsTer?) c.486_489del (p.Glu162AspfsTer13) c.873_876del (p.Glu291AspfsTer13) c.882_882+3del | |
| X | g.70033486G>A | CA517014164 | EDA | c.882G>A (p.Glu294=) c.873G>A (p.Glu291=) c.486G>A (p.Glu162=) | gnomAD v4 |
| X | g.70033486G>C | CA413448945 | EDA | c.882G>C (p.Glu294Asp) c.873G>C (p.Glu291Asp) c.486G>C (p.Glu162Asp) | |
| X | g.70033486G>T | CA413448946 | EDA | c.882G>T (p.Glu294Asp) c.873G>T (p.Glu291Asp) c.486G>T (p.Glu162Asp) | |
| X | g.70033487del | CA2739273563 | EDA | c.883del (p.Val295TyrfsTer13) c.883del (p.Val295TyrfsTer?) c.874del (p.Val292TyrfsTer?) c.487del (p.Val163TyrfsTer13) c.874del (p.Val292TyrfsTer13) c.882+1del | ClinVar |
| X | g.70033489_70033494del | CA2573159014 | EDA | c.885_890del (p.Leu296_Val297del) c.876_881del (p.Leu293_Val294del) c.489_494del (p.Leu164_Val165del) c.882+3_882+8del | ClinVar dbSNP |
| X | g.70033487G>A | CA413448947 | EDA | c.883G>A (p.Val295Ile) c.874G>A (p.Val292Ile) c.487G>A (p.Val163Ile) c.882+1G>A (n.882+1G>A) | |
| X | g.70033487G>C | CA413448948 | EDA | c.883G>C (p.Val295Leu) c.874G>C (p.Val292Leu) c.487G>C (p.Val163Leu) c.882+1G>C (n.882+1G>C) | |
| X | g.70033487G>T | CA413448949 | EDA | c.883G>T (p.Val295Leu) c.874G>T (p.Val292Leu) c.487G>T (p.Val163Leu) c.882+1G>T (n.882+1G>T) |