| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70027856G>A | CA413448170 | EDA | c.527-1G>A (n.527-1G>A) c.131-1G>A (n.131-1G>A) | |
| X | g.70027856G>C | CA413448171 | EDA | c.527-1G>C (n.527-1G>C) c.131-1G>C (n.131-1G>C) | |
| X | g.70027856G>T | CA413448172 | EDA | c.527-1G>T (n.527-1G>T) c.131-1G>T (n.131-1G>T) | gnomAD v4 |
| X | g.70027857G>A | CA413448173 | EDA | c.527G>A (p.Gly176Glu) c.131G>A (p.Gly44Glu) | |
| X | g.70027857G>C | CA413448174 | EDA | c.527G>C (p.Gly176Ala) c.131G>C (p.Gly44Ala) | |
| X | g.70027857G>T | CA413448175 | EDA | c.527G>T (p.Gly176Val) c.131G>T (p.Gly44Val) | gnomAD v4 |
| X | g.70027858A>C | CA517012642 | EDA | c.528A>C (p.Gly176=) c.132A>C (p.Gly44=) | |
| X | g.70027858A>G | CA517012644 | EDA | c.528A>G (p.Gly176=) c.132A>G (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
| X | g.70027858A>T | CA517012643 | EDA | c.528A>T (p.Gly176=) c.132A>T (p.Gly44=) | |
| X | g.70027859A>C | CA413448176 | EDA | c.529A>C (p.Lys177Gln) c.133A>C (p.Lys45Gln) | |
| X | g.70027859A>G | CA413448178 | EDA | c.529A>G (p.Lys177Glu) c.133A>G (p.Lys45Glu) | |
| X | g.70027859A>T | CA413448177 | EDA | c.529A>T (p.Lys177Ter) c.133A>T (p.Lys45Ter) | |
| X | g.70027860A= | CA2435979540 | EDA | c.530A= (p.Lys177=) c.134A= (p.Lys45=) | |
| X | g.70027860A>C | CA413448179 | EDA | c.530A>C (p.Lys177Thr) c.134A>C (p.Lys45Thr) | |
| X | g.70027860A>G | CA413448180 | EDA | c.530A>G (p.Lys177Arg) c.134A>G (p.Lys45Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.70027860A>T | CA413448181 | EDA | c.530A>T (p.Lys177Met) c.134A>T (p.Lys45Met) | |
| X | g.70027861G>A | CA517012645 | EDA | c.531G>A (p.Lys177=) c.135G>A (p.Lys45=) | |
| X | g.70027861G>C | CA10438963 | EDA | c.531G>C (p.Lys177Asn) c.135G>C (p.Lys45Asn) | dbSNP ExAC gnomAD v2 |
| X | g.70027861G= | CA2435979541 | EDA | c.531G= (p.Lys177=) c.135G= (p.Lys45=) | |
| X | g.70027861G>T | CA413448182 | EDA | c.531G>T (p.Lys177Asn) c.135G>T (p.Lys45Asn) | |
| X | g.70027862A>C | CA413448183 | EDA | c.532A>C (p.Lys178Gln) c.136A>C (p.Lys46Gln) | |
| X | g.70027862A>G | CA413448184 | EDA | c.532A>G (p.Lys178Glu) c.136A>G (p.Lys46Glu) | ClinVar gnomAD v4 |
| X | g.70027862A>T | CA413448185 | EDA | c.532A>T (p.Lys178Ter) c.136A>T (p.Lys46Ter) | |
| X | g.70027862_70027864delinsG | CA2695234198 | EDA | c.532_534delinsG (p.Lys178GlyfsTer?) c.136_138delinsG (p.Lys46GlyfsTer?) | |
| X | g.70027863A>C | CA413448186 | EDA | c.533A>C (p.Lys178Thr) c.137A>C (p.Lys46Thr) | |
| X | g.70027863A>G | CA413448187 | EDA | c.533A>G (p.Lys178Arg) c.137A>G (p.Lys46Arg) | gnomAD v4 |
| X | g.70027863A>T | CA413448188 | EDA | c.533A>T (p.Lys178Ile) c.137A>T (p.Lys46Ile) | |
| X | g.70027863_70027874del | CA2580101362 | EDA | c.533_544del (p.Lys178_Pro182delinsThr) c.137_148del (p.Lys46_Pro50delinsThr) | ClinVar |
| X | g.70027863_70027882delinsCTGAA | CA2695234199 | EDA | c.533_552delinsCTGAA (p.Lys178_Pro184delinsThrGlu) c.137_156delinsCTGAA (p.Lys46_Pro52delinsThrGlu) | |
| X | g.70027864A>C | CA413448190 | EDA | c.534A>C (p.Lys178Asn) c.138A>C (p.Lys46Asn) | |
| X | g.70027864A>G | CA517012646 | EDA | c.534A>G (p.Lys178=) c.138A>G (p.Lys46=) | |
| X | g.70027864A>T | CA413448189 | EDA | c.534A>T (p.Lys178Asn) c.138A>T (p.Lys46Asn) | |
| X | g.70027865G>A | CA413448191 | EDA | c.535G>A (p.Ala179Thr) c.139G>A (p.Ala47Thr) | |
| X | g.70027865G>C | CA413448193 | EDA | c.535G>C (p.Ala179Pro) c.139G>C (p.Ala47Pro) | gnomAD v4 |
| X | g.70027865G>T | CA413448192 | EDA | c.535G>T (p.Ala179Ser) c.139G>T (p.Ala47Ser) | gnomAD v4 |
| X | g.70027865_70027901delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC | CA2435979542 | EDA | c.535_571delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala179=) c.139_175delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala47=) | |
| X | g.70027866C>A | CA413448194 | EDA | c.536C>A (p.Ala179Glu) c.140C>A (p.Ala47Glu) | gnomAD v4 |
| X | g.70027866C>G | CA413448196 | EDA | c.536C>G (p.Ala179Gly) c.140C>G (p.Ala47Gly) | |
| X | g.70027866C>T | CA413448195 | EDA | c.536C>T (p.Ala179Val) c.140C>T (p.Ala47Val) | gnomAD v4 |
| X | g.70027873_70027899del | CA2697553198 | EDA | c.543_569del (p.Pro182_Pro190del) c.147_173del (p.Pro50_Pro58del) | ClinVar |
| X | g.70027876_70027911del | CA261494 | EDA | c.546_581del (p.Gly183_Pro194del) c.150_185del (p.Gly51_Pro62del) | ClinVar dbSNP gnomAD v4 |
| X | g.70027867A>C | CA517012647 | EDA | c.537A>C (p.Ala179=) c.141A>C (p.Ala47=) | |
| X | g.70027867A>G | CA517012648 | EDA | c.537A>G (p.Ala179=) c.141A>G (p.Ala47=) | |
| X | g.70027867A>T | CA517012649 | EDA | c.537A>T (p.Ala179=) c.141A>T (p.Ala47=) | |
| X | g.70027868_70027870dup | CA2693978764 | EDA | c.538_540dup (p.Gly180_Pro181insGly) c.142_144dup (p.Gly48_Pro49insGly) | gnomAD v4 |
| X | g.70027868G>A | CA413448197 | EDA | c.538G>A (p.Gly180Arg) c.142G>A (p.Gly48Arg) | |
| X | g.70027868G>C | CA413448198 | EDA | c.538G>C (p.Gly180Arg) c.142G>C (p.Gly48Arg) | |
| X | g.70027868G>T | CA413448199 | EDA | c.538G>T (p.Gly180Ter) c.142G>T (p.Gly48Ter) | gnomAD v4 |
| X | g.70027869G>A | CA413448200 | EDA | c.539G>A (p.Gly180Glu) c.143G>A (p.Gly48Glu) | |
| X | g.70027869G>C | CA413448201 | EDA | c.539G>C (p.Gly180Ala) c.143G>C (p.Gly48Ala) |