NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000288.4(PEX7):c.804-2A>C
|
rs774676095
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NC_000006.11:g.(?_137143759)_(137143943_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137166840_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137166743)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137167201)_(137234674_?)del
|
|
|
NC_000006.11:g.(?_137187755)_(137193401_?)del
|
|
|
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.10del (p.Val4fs)
|
|
|
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
|
rs1774102216
|
|
NM_000288.4(PEX7):c.12del (p.Cys5fs)
|
|
|
NM_000288.4(PEX7):c.130+2T>G
|
rs2115122957
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.213del (p.Phe71fs)
|
rs1190462422
|
|
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
|
|
|
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
|
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
|
|
|
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
|
|
|
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
|
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.364del (p.Thr122fs)
|
rs2115170460
|
|
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
|
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
|
rs2115171634
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
|
rs1774099032
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.517del (p.Ser173fs)
|
rs2115171791
|
|
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
|
|
|
NM_000288.4(PEX7):c.52dup (p.His18fs)
|
|
|
NM_000288.4(PEX7):c.546_547del (p.Ile182fs)
|
rs2115216632
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs)
|
rs2115122515
|
|
NM_000288.4(PEX7):c.652del (p.Ala218fs)
|
|
|
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
|
|
|
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
|
|
|
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
|
|
|
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
|
rs2115273041
|
|