NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
NM_000380.4(XPA):c.555+8A>G
|
rs756967163
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)
|
rs757958943
|
0.00004
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00004
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)
|
rs121434570
|
0.00003
|
NM_000380.4(XPA):c.331G>T (p.Glu111Ter)
|
rs769255883
|
0.00003
|
NM_004628.5(XPC):c.622-2A>C
|
rs201940931
|
0.00003
|
NM_006502.3(POLH):c.1078dup (p.Asp360fs)
|
rs1277794845
|
0.00003
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)
|
rs104894133
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)
|
rs1450238352
|
0.00002
|
NM_004628.5(XPC):c.2033+1G>A
|
rs764480429
|
0.00002
|
NM_000122.2(ERCC3):c.657+1G>A
|
rs56116802
|
0.00001
|
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)
|
rs899478069
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_000400.4(ERCC2):c.595-10G>A
|
rs761737358
|
0.00001
|
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)
|
rs121965088
|
0.00001
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)
|
rs745679643
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NC_000003.11:g.14187530_(14190449_14193834)del
|
|
|
NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
|
|
|
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
|
|
|
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
|
|
|
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000122.2(ERCC3):c.471+1G>A
|
rs1558964705
|
|
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)
|
rs1882806435
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)
|
rs779078202
|
|
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)
|
rs752661599
|
|
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
|
|
|
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)
|
rs1882641004
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
NM_000380.4(XPA):c.631C>T (p.Arg211Ter)
|
rs149226993
|
|
NM_000380.4(XPA):c.648_649del (p.Lys217fs)
|
rs1057519018
|
|
NM_000380.4(XPA):c.666dup (p.Val223fs)
|
rs1554701103
|
|
NM_000380.4(XPA):c.673+1G>A
|
rs2131393093
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
|
|
|
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
|
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)
|
rs1696002966
|
|
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter)
|
rs1695999145
|
|
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
|
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)
|
rs370126012
|
|
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
|
rs1330667099
|
|
NM_004628.5(XPC):c.463C>T (p.Arg155Ter)
|
rs755825264
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_005236.3(ERCC4):c.1214-1G>A
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)
|
|
|