NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000400.4(ERCC2):c.1377+2T>C
|
rs201505264
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)
|
rs121913021
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)
|
rs151235136
|
0.00004
|
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)
|
rs370454709
|
0.00004
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000400.4(ERCC2):c.1666-2A>T
|
rs199658345
|
0.00002
|
NM_000400.4(ERCC2):c.1758+1G>A
|
rs760834687
|
0.00002
|
NM_000400.4(ERCC2):c.1308-2A>G
|
rs766369300
|
0.00001
|
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys)
|
rs199738290
|
0.00001
|
NM_000400.4(ERCC2):c.1759-2A>G
|
rs774936846
|
0.00001
|
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His)
|
rs762141272
|
0.00001
|
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)
|
rs774392894
|
0.00001
|
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
|
rs760820378
|
0.00001
|
NM_000400.4(ERCC2):c.595-10G>A
|
rs761737358
|
0.00001
|
NM_000400.4(ERCC2):c.816-2A>G
|
rs746795177
|
0.00001
|
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
|
|
|
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)
|
rs2123286013
|
|
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
|
|
|
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
|
|
|
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)
|
|
|
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
|
|
|
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
|
|
|
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
|
|
|
NM_000400.4(ERCC2):c.1307+1G>A
|
|
|
NM_000400.4(ERCC2):c.1347_1377+7del
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
|
|
|
NM_000400.4(ERCC2):c.1377+1dup
|
|
|
NM_000400.4(ERCC2):c.1479+2T>C
|
|
|
NM_000400.4(ERCC2):c.1480-1G>C
|
|
|
NM_000400.4(ERCC2):c.1543+2_1543+33inv
|
|
|
NM_000400.4(ERCC2):c.1544-1G>T
|
|
|
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
|
|
|
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
|
|
|
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
|
|
|
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)
|
rs2123229548
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
|
|
|
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
|
|
|
NM_000400.4(ERCC2):c.1759-2A>C
|
|
|
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
|
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
|
|
|
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
|
|
|
NM_000400.4(ERCC2):c.1832-1G>T
|
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
|
|
|
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
|
|
|
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
|
|
|
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
|
|
|
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)
|
rs121913021
|
|
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
|
|
|
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)
|
rs754967981
|
|
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
|
|
|
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
|
|
|
NM_000400.4(ERCC2):c.2046+1G>T
|
rs774768228
|
|
NM_000400.4(ERCC2):c.2047-13_2048del
|
rs1327017125
|
|
NM_000400.4(ERCC2):c.2047-2A>C
|
|
|
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
|
|
|
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter)
|
rs1555775416
|
|
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
|
|
|
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
|
|
|
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
|
|
|
NM_000400.4(ERCC2):c.2186dup (p.His729fs)
|
|
|
NM_000400.4(ERCC2):c.2190+1G>T
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.2191-2A>G
|
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
|
|
|
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
|
|
|
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
|
|
|
NM_000400.4(ERCC2):c.478-2A>G
|
|
|
NM_000400.4(ERCC2):c.5+2T>A
|
rs1599753508
|
|
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
|
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
|
|
|
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
|
|
|
NM_000400.4(ERCC2):c.815+1G>A
|
|
|
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)
|
|
|