NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_001399.5(EDA):c.467G>A (p.Arg156His)
|
rs132630314
|
0.00001
|
NM_001972.4(ELANE):c.598-1G>A
|
rs201117839
|
0.00001
|
NM_001399.4(EDA):c.(?_-115)_(174_?)del
|
|
|
NM_001399.4(EDA):c.(?_397)_(502_?)del
|
|
|
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
|
|
|
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
|
|
|
NM_001399.4(EDA):c.(?_707)_(741_?)del
|
|
|
NM_001399.4(EDA):c.(?_925)_(1176_?)del
|
|
|
NM_001399.5(EDA):c.132_135dup (p.Phe46fs)
|
rs727505089
|
|
NM_001399.5(EDA):c.272dup (p.Ser91fs)
|
rs397516656
|
|
NM_001399.5(EDA):c.2T>C (p.Met1Thr)
|
rs397516659
|
|
NM_001399.5(EDA):c.319_322dup (p.Gln108fs)
|
rs876657684
|
|
NM_001399.5(EDA):c.329C>A (p.Ser110Ter)
|
rs397516660
|
|
NM_001399.5(EDA):c.347T>A (p.Leu116Ter)
|
rs397516661
|
|
NM_001399.5(EDA):c.396+1G>A
|
rs727504537
|
|
NM_001399.5(EDA):c.396+2T>G
|
rs727504814
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
NM_001399.5(EDA):c.467G>T (p.Arg156Leu)
|
rs132630314
|
|
NM_001399.5(EDA):c.474A>C (p.Lys158Asn)
|
rs727504649
|
|
NM_001399.5(EDA):c.502+1G>A
|
rs727505013
|
|
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)
|
rs397516665
|
|
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)
|
rs397516666
|
|
NM_001399.5(EDA):c.562_589del (p.Pro188fs)
|
rs397516667
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)
|
rs876657685
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
NM_001399.5(EDA):c.663_697del (p.Pro222fs)
|
rs397516670
|
|
NM_001399.5(EDA):c.676C>T (p.Gln226Ter)
|
rs727503007
|
|
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)
|
rs397516672
|
|
NM_001399.5(EDA):c.766C>T (p.Gln256Ter)
|
rs727504417
|
|
NM_001399.5(EDA):c.809del (p.Val270fs)
|
rs727503008
|
|
NM_001399.5(EDA):c.822G>A (p.Trp274Ter)
|
rs397516675
|
|
NM_001399.5(EDA):c.822del (p.Trp274fs)
|
rs397516676
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
NM_001399.5(EDA):c.948del (p.Phe317fs)
|
rs727503010
|
|
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)
|
rs876657687
|
|
NM_001399.5(EDA):c.961G>T (p.Glu321Ter)
|
rs397516682
|
|
NM_001399.5(EDA):c.991C>T (p.Gln331Ter)
|
rs727503011
|
|