NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)
|
rs7014851
|
0.08773
|
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)
|
rs139426141
|
0.01139
|
NM_005144.5(HR):c.2776+1G>A
|
rs773764015
|
0.00003
|
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)
|
rs267606777
|
0.00003
|
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)
|
rs121434309
|
0.00001
|
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn)
|
rs121434451
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro)
|
rs267606775
|
0.00001
|
NM_177986.5(DSG4):c.763del (p.Cys255fs)
|
rs1462595806
|
0.00001
|
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg)
|
rs267606776
|
0.00001
|
NM_177986.5(DSG4):c.87del (p.Lys30fs)
|
rs1325804776
|
0.00001
|
NG_012183.1:g.(2711_2742)_(3942_3973)del
|
|
|
NM_000982.4(RPL21):c.95G>A (p.Arg32Gln)
|
rs587777527
|
|
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)
|
rs1566212378
|
|
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)
|
rs121434308
|
|
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)
|
rs121434306
|
|
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)
|
rs121434307
|
|
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)
|
rs115596308
|
|
NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs)
|
rs558917628
|
|
NM_001264.5(CDSN):c.598C>T (p.Gln200Ter)
|
rs121917820
|
|
NM_001264.5(CDSN):c.643C>T (p.Gln215Ter)
|
rs121917819
|
|
NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter)
|
rs137852782
|
|
NM_001941.5(DSC3):c.2180T>G (p.Leu727Ter)
|
rs2144681220
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)
|
rs1114167429
|
|
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)
|
rs886037954
|
|
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)
|
rs886037954
|
|
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)
|
rs886037955
|
|
NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser)
|
rs587776925
|
|
NM_003094.4(SNRPE):c.1A>G (p.Met1Val)
|
rs587776924
|
|
NM_005144.5(HR):c.1258del (p.Gln420fs)
|
|
|
NM_005144.5(HR):c.1837C>T (p.Arg613Ter)
|
rs121434449
|
|
NM_005144.5(HR):c.2147del (p.Pro716fs)
|
rs2131756993
|
|
NM_005144.5(HR):c.2847-2_2847-1del
|
|
|
NM_005144.5(HR):c.3407T>A (p.Val1136Asp)
|
rs121434448
|
|
NM_005144.5(HR):c.3526C>T (p.Gln1176Ter)
|
rs121434450
|
|
NM_005144.5(HR):c.[1258del;1263_1283del]
|
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)
|
rs1848064627
|
|
NM_139248.3(LIPH):c.346_350del (p.Ile116fs)
|
rs2148959539
|
|
NM_139248.3(LIPH):c.659_660del (p.Ile220fs)
|
rs559648418
|
|
NM_139248.3(LIPH):c.886+405_1094+962del
|
|
|
NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg)
|
rs267606659
|
|
NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)
|
rs267607477
|
|
NM_177986.5(DSG4):c.126_129del (p.Thr43fs)
|
|
|
NM_177986.5(DSG4):c.2038dup (p.Ser680fs)
|
rs786200875
|
|
NM_177986.5(DSG4):c.216+1G>T
|
rs1568062215
|
|
NM_177986.5(DSG4):c.373-32_1005+292del
|
|
|
NM_177986.5(DSG4):c.968A>G (p.Asp323Gly)
|
rs767724665
|
|