NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.422+1G>A
|
rs1198472093
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.1821+1G>A
|
rs1228919836
|
0.00001
|
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)
|
rs774791374
|
0.00001
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)
|
rs762976316
|
0.00001
|
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
|
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
|
|
|
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)
|
rs1554793270
|
|
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
|
|
|
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)
|
rs1851434105
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.1527-2A>G
|
rs768608345
|
|
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)
|
rs1057518910
|
|
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
|
|
|
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
|
|
|
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)
|
rs768188064
|
|
NM_000124.4(ERCC6):c.1815del (p.His605fs)
|
|
|
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)
|
rs961060711
|
|
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)
|
rs1554789393
|
|
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
|
|
|
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
|
|
|
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
|
|
|
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)
|
rs1851015811
|
|
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
|
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
|
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
|
|
|
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
|
|
|
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
|
|
|
NM_000124.4(ERCC6):c.2169+1G>A
|
rs1441655600
|
|
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)
|
rs1850916835
|
|
NM_000124.4(ERCC6):c.2286+1G>A
|
rs1362935450
|
|
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
|
|
|
NM_000124.4(ERCC6):c.2336del (p.Phe779fs)
|
rs2132544294
|
|
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)
|
rs1850874595
|
|
NM_000124.4(ERCC6):c.2383-1G>A
|
rs1554787554
|
|
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)
|
rs1850832795
|
|
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)
|
rs1850832063
|
|
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
|
|
|
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
|
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)
|
rs1850831525
|
|
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
|
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
|
|
|
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)
|
rs1850770605
|
|
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)
|
rs1850769140
|
|
NM_000124.4(ERCC6):c.3071-1G>A
|
rs1554875287
|
|
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)
|
rs1850766086
|
|
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)
|
rs1850765501
|
|
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
|
|
|
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)
|
rs144445150
|
|
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
|
|
|
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)
|
rs1850759141
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)
|
rs1850757159
|
|
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)
|
rs1286402535
|
|
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
|
|
|
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
|
|
|
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)
|
rs1850754584
|
|
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
|
|
|
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)
|
rs1850753467
|
|
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)
|
rs1287286877
|
|
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
|
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter)
|
rs786205173
|
|
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)
|
rs1554875155
|
|
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
|
|
|
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)
|
rs1554875154
|
|
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)
|
rs2228527
|
|
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
|
rs1850750513
|
|
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
|
|
|
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
|
|
|
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)
|
rs1850747928
|
|
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
|
|
|
NM_000124.4(ERCC6):c.3778+1G>C
|
rs1554875114
|
|
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)
|
rs1386369933
|
|
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)
|
rs1554874073
|
|
NM_000124.4(ERCC6):c.3984-2A>G
|
rs1554873973
|
|
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)
|
rs2132639937
|
|
NM_000124.4(ERCC6):c.4062+2T>A
|
rs1554873950
|
|
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
|
|
|
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
|
rs1850531575
|
|
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)
|
rs1272960343
|
|
NM_000124.4(ERCC6):c.422+1G>C
|
rs1198472093
|
|
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)
|
rs1837393519
|
|
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)
|
rs577021605
|
|
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)
|
rs875989810
|
|
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)
|
rs1254008304
|
|