NM_000124.4(ERCC6):c.2287-2A>G
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rs754978734
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0.00002
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NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
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NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
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NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
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NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
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NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
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NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
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NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
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NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
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NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
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NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
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NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)
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rs1851434105
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NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
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NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
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NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)
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rs768188064
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NM_000124.4(ERCC6):c.1815del (p.His605fs)
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NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)
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rs961060711
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NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
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NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
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NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
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NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)
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rs1851015811
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NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
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NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
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NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
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NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
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NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
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NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)
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rs1850916835
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NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
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NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)
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rs1850874595
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NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)
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rs1850832795
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NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)
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rs1850832063
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NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
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NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)
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rs1850831525
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NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
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NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
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NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)
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rs1283213117
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NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)
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rs1850797541
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NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
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NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
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NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)
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rs1850770605
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NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)
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rs1850769140
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NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)
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rs1850766086
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NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
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NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
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NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)
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rs1850759141
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NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)
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rs1850757159
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NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)
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rs1286402535
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NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
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NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
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NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)
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rs1850754584
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NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
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NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)
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rs1850753467
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NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
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NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
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NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)
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rs2228527
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NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
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rs1850750513
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NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
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NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
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NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)
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rs1850747928
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NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
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NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
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NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
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NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)
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rs1837393519
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NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
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NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
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