Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70033426del | CA261507 | EDA | c.822del (p.Trp274CysfsTer6) c.813del (p.Trp271CysfsTer6) c.426del (p.Trp142CysfsTer6) | ClinVar dbSNP |
X | g.70033426G>A | CA273144 | EDA | c.822G>A (p.Trp274Ter) c.813G>A (p.Trp271Ter) c.426G>A (p.Trp142Ter) | ClinVar dbSNP |
X | g.70033426G>C | CA413448817 | EDA | c.822G>C (p.Trp274Cys) c.813G>C (p.Trp271Cys) c.426G>C (p.Trp142Cys) | |
X | g.70033426G= | CA2435981292 | EDA | c.822G= (p.Trp274=) c.813G= (p.Trp271=) c.426G= (p.Trp142=) | |
X | g.70033426G>T | CA261505 | EDA | c.822G>T (p.Trp274Cys) c.813G>T (p.Trp271Cys) c.426G>T (p.Trp142Cys) | ClinVar dbSNP |
X | g.70033427T>A | CA413448818 | EDA | c.823T>A (p.Ser275Thr) c.814T>A (p.Ser272Thr) c.427T>A (p.Ser143Thr) | |
X | g.70033427T>C | CA413448819 | EDA | c.823T>C (p.Ser275Pro) c.814T>C (p.Ser272Pro) c.427T>C (p.Ser143Pro) | |
X | g.70033427T>G | CA413448820 | EDA | c.823T>G (p.Ser275Ala) c.814T>G (p.Ser272Ala) c.427T>G (p.Ser143Ala) | |
X | g.70033428C>A | CA413448821 | EDA | c.824C>A (p.Ser275Tyr) c.815C>A (p.Ser272Tyr) c.428C>A (p.Ser143Tyr) | |
X | g.70033428C>G | CA413448822 | EDA | c.824C>G (p.Ser275Cys) c.815C>G (p.Ser272Cys) c.428C>G (p.Ser143Cys) | |
X | g.70033428C>T | CA413448823 | EDA | c.824C>T (p.Ser275Phe) c.815C>T (p.Ser272Phe) c.428C>T (p.Ser143Phe) | |
X | g.70033429T>A | CA517013917 | EDA | c.825T>A (p.Ser275=) c.816T>A (p.Ser272=) c.429T>A (p.Ser143=) | |
X | g.70033429T>C | CA517013918 | EDA | c.825T>C (p.Ser275=) c.816T>C (p.Ser272=) c.429T>C (p.Ser143=) | |
X | g.70033429T>G | CA517013919 | EDA | c.825T>G (p.Ser275=) c.816T>G (p.Ser272=) c.429T>G (p.Ser143=) | |
X | g.70033430C>A | CA413448824 | EDA | c.826C>A (p.Arg276Ser) c.817C>A (p.Arg273Ser) c.430C>A (p.Arg144Ser) | |
X | g.70033430C= | CA2435981293 | EDA | c.826C= (p.Arg276=) c.817C= (p.Arg273=) c.430C= (p.Arg144=) | |
X | g.70033430C>G | CA413448825 | EDA | c.826C>G (p.Arg276Gly) c.817C>G (p.Arg273Gly) c.430C>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.70033430C>T | CA260052 | EDA | c.826C>T (p.Arg276Cys) c.817C>T (p.Arg273Cys) c.430C>T (p.Arg144Cys) | ClinVar dbSNP |
X | g.70033431G>A | CA413448826 | EDA | c.827G>A (p.Arg276His) c.818G>A (p.Arg273His) c.431G>A (p.Arg144His) | dbSNP gnomAD v4 |
X | g.70033431G>C | CA413448827 | EDA | c.827G>C (p.Arg276Pro) c.818G>C (p.Arg273Pro) c.431G>C (p.Arg144Pro) | ClinVar |
X | g.70033431G= | CA2435981294 | EDA | c.827G= (p.Arg276=) c.818G= (p.Arg273=) c.431G= (p.Arg144=) | |
X | g.70033431G>T | CA16043276 | EDA | c.827G>T (p.Arg276Leu) c.818G>T (p.Arg273Leu) c.431G>T (p.Arg144Leu) | ClinVar dbSNP |
X | g.70033432C>A | CA517013930 | EDA | c.828C>A (p.Arg276=) c.819C>A (p.Arg273=) c.432C>A (p.Arg144=) | |
X | g.70033432C>G | CA517013927 | EDA | c.828C>G (p.Arg276=) c.819C>G (p.Arg273=) c.432C>G (p.Arg144=) | |
X | g.70033432C>T | CA517013926 | EDA | c.828C>T (p.Arg276=) c.819C>T (p.Arg273=) c.432C>T (p.Arg144=) | |
X | g.70033433A= | CA2435981295 | EDA | c.829A= (p.Ile277=) c.820A= (p.Ile274=) c.433A= (p.Ile145=) | |
X | g.70033433A>C | CA413448828 | EDA | c.829A>C (p.Ile277Leu) c.820A>C (p.Ile274Leu) c.433A>C (p.Ile145Leu) | gnomAD v4 |
X | g.70033433A>G | CA413448829 | EDA | c.829A>G (p.Ile277Val) c.820A>G (p.Ile274Val) c.433A>G (p.Ile145Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70033433A>T | CA413448830 | EDA | c.829A>T (p.Ile277Phe) c.820A>T (p.Ile274Phe) c.433A>T (p.Ile145Phe) | |
X | g.70033434T>A | CA413448831 | EDA | c.830T>A (p.Ile277Asn) c.821T>A (p.Ile274Asn) c.434T>A (p.Ile145Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70033434T>C | CA413448833 | EDA | c.830T>C (p.Ile277Thr) c.821T>C (p.Ile274Thr) c.434T>C (p.Ile145Thr) | |
X | g.70033434T>G | CA413448832 | EDA | c.830T>G (p.Ile277Ser) c.821T>G (p.Ile274Ser) c.434T>G (p.Ile145Ser) | |
X | g.70033434T= | CA2435981296 | EDA | c.830T= (p.Ile277=) c.821T= (p.Ile274=) c.434T= (p.Ile145=) | |
X | g.70033435del | CA2695234454 | EDA | c.831del (p.Thr278LeufsTer2) c.822del (p.Thr275LeufsTer2) c.435del (p.Thr146LeufsTer2) | |
X | g.70033435C>A | CA517013937 | EDA | c.831C>A (p.Ile277=) c.822C>A (p.Ile274=) c.435C>A (p.Ile145=) | |
X | g.70033435C>G | CA413448834 | EDA | c.831C>G (p.Ile277Met) c.822C>G (p.Ile274Met) c.435C>G (p.Ile145Met) | |
X | g.70033435C>T | CA517013941 | EDA | c.831C>T (p.Ile277=) c.822C>T (p.Ile274=) c.435C>T (p.Ile145=) | ClinVar |
X | g.70033436A>C | CA413448835 | EDA | c.832A>C (p.Thr278Pro) c.823A>C (p.Thr275Pro) c.436A>C (p.Thr146Pro) | |
X | g.70033436A>G | CA413448836 | EDA | c.832A>G (p.Thr278Ala) c.823A>G (p.Thr275Ala) c.436A>G (p.Thr146Ala) | gnomAD v4 |
X | g.70033436A>T | CA413448837 | EDA | c.832A>T (p.Thr278Ser) c.823A>T (p.Thr275Ser) c.436A>T (p.Thr146Ser) | |
X | g.70033437C>A | CA413448839 | EDA | c.833C>A (p.Thr278Asn) c.824C>A (p.Thr275Asn) c.437C>A (p.Thr146Asn) | |
X | g.70033437C= | CA2435981297 | EDA | c.833C= (p.Thr278=) c.824C= (p.Thr275=) c.437C= (p.Thr146=) | |
X | g.70033437C>G | CA10439015 | EDA | c.833C>G (p.Thr278Ser) c.824C>G (p.Thr275Ser) c.437C>G (p.Thr146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70033437C>T | CA413448838 | EDA | c.833C>T (p.Thr278Ile) c.824C>T (p.Thr275Ile) c.437C>T (p.Thr146Ile) | |
X | g.70033438T>A | CA517013951 | EDA | c.834T>A (p.Thr278=) c.825T>A (p.Thr275=) c.438T>A (p.Thr146=) | |
X | g.70033438T>C | CA10439016 | EDA | c.834T>C (p.Thr278=) c.825T>C (p.Thr275=) c.438T>C (p.Thr146=) | dbSNP ExAC |
X | g.70033438T>G | CA10439017 | EDA | c.834T>G (p.Thr278=) c.825T>G (p.Thr275=) c.438T>G (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70033438T= | CA2435981298 | EDA | c.834T= (p.Thr278=) c.825T= (p.Thr275=) c.438T= (p.Thr146=) | |
X | g.70033439A>C | CA413448840 | EDA | c.835A>C (p.Met279Leu) c.826A>C (p.Met276Leu) c.439A>C (p.Met147Leu) | |
X | g.70033439A>G | CA413448842 | EDA | c.835A>G (p.Met279Val) c.826A>G (p.Met276Val) c.439A>G (p.Met147Val) | gnomAD v4 |