NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)
|
rs201894064
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr)
|
rs186839348
|
0.00003
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)
|
rs745352643
|
0.00003
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs)
|
rs750622098
|
0.00001
|
NM_000082.4(ERCC8):c.1137del (p.Gln380fs)
|
rs1343747301
|
0.00001
|
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)
|
rs281875222
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met)
|
rs374470147
|
0.00001
|
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)
|
rs886047039
|
0.00001
|
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)
|
rs886060726
|
0.00001
|
NM_000082.4(ERCC8):c.1006del (p.Thr336fs)
|
rs1554072703
|
|
NM_000082.4(ERCC8):c.1125del (p.Thr376fs)
|
rs1554071508
|
|
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del)
|
rs754890794
|
|
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)
|
rs1554071495
|
|
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del)
|
rs1249878855
|
|
NM_000082.4(ERCC8):c.562_564del (p.Glu188del)
|
rs1404307838
|
|
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup)
|
rs1554793268
|
|
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del)
|
rs1284316063
|
|
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln)
|
rs772545860
|
|
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del)
|
rs751610688
|
|
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)
|
rs886047038
|
|
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)
|
rs779180885
|
|
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)
|
rs769020754
|
|
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly)
|
rs752712823
|
|
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp)
|
rs1554788393
|
|
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe)
|
rs1554788383
|
|
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)
|
rs886047036
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu)
|
rs772104945
|
|
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)
|
rs1342267719
|
|
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg)
|
rs1435512927
|
|
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del)
|
rs1248870490
|
|
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser)
|
rs886042655
|
|
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro)
|
rs1554874085
|
|
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter)
|
rs1554873743
|
|
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)
|
rs886047032
|
|
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del)
|
rs765040780
|
|
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter)
|
rs1554076325
|
|
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)
|
rs772489808
|
|