NM_181426.2(CCDC39):c.1167+1261A>G
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rs577069249
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0.00051
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NM_181426.2(CCDC39):c.610-2A>G
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rs756235547
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0.00009
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NM_181426.2(CCDC39):c.357+1G>C
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rs397515392
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0.00007
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NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
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rs769223754
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0.00006
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NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
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rs201780665
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0.00004
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NM_181426.2(CCDC39):c.1159del (p.Asp387fs)
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rs1275367324
|
0.00001
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NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
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rs375839864
|
0.00001
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NM_181426.2(CCDC39):c.1665+1G>A
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rs753580394
|
0.00001
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NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter)
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rs778577109
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0.00001
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NM_181426.2(CCDC39):c.451del (p.Ala151fs)
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rs1553805885
|
0.00001
|
NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter)
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rs1047910260
|
0.00001
|
NC_000003.11:g.(?_180369169)_(180369341_?)dup
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NC_000003.12:g.(?_180651381)_(180651553_?)del
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NC_000003.12:g.(?_180652143)_(180652286_?)del
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NC_000003.12:g.180652267_180652268insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATCCAGC
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NM_181426.1(CCDC39):c.1035delG
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rs1553804640
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NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter)
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NM_181426.2(CCDC39):c.1007_1010del (p.Lys336fs)
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NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
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rs747980515
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NM_181426.2(CCDC39):c.1059del (p.Asn353fs)
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NM_181426.2(CCDC39):c.1072del (p.Thr358fs)
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rs587778822
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NM_181426.2(CCDC39):c.1073_1076del (p.Thr358fs)
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rs878855279
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NM_181426.2(CCDC39):c.1113dup (p.Glu372fs)
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NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter)
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NM_181426.2(CCDC39):c.114_115del (p.Arg38fs)
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NM_181426.2(CCDC39):c.1158del (p.Asp387fs)
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NM_181426.2(CCDC39):c.1167+1G>A
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NM_181426.2(CCDC39):c.1199del (p.Gly400fs)
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NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT (p.Phe403fs)
|
rs2108421980
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NM_181426.2(CCDC39):c.1228C>T (p.Gln410Ter)
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NM_181426.2(CCDC39):c.1242del (p.Met414fs)
|
rs1553804220
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NM_181426.2(CCDC39):c.1252del (p.Ala418fs)
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NM_181426.2(CCDC39):c.1257_1258insA (p.Leu420fs)
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NM_181426.2(CCDC39):c.1311dup (p.Gln438fs)
|
rs1553804209
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NM_181426.2(CCDC39):c.1345G>T (p.Glu449Ter)
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NM_181426.2(CCDC39):c.1381del (p.Val461fs)
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NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter)
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NM_181426.2(CCDC39):c.139_142del (p.Glu47fs)
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NM_181426.2(CCDC39):c.1411G>T (p.Glu471Ter)
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NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
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NM_181426.2(CCDC39):c.1485dup (p.Ser496fs)
|
rs751239231
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NM_181426.2(CCDC39):c.1528-2A>G
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NM_181426.2(CCDC39):c.1528-2A>T
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NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs)
|
rs2108420039
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NM_181426.2(CCDC39):c.1579C>T (p.Gln527Ter)
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NM_181426.2(CCDC39):c.157_160del (p.Asn53fs)
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NM_181426.2(CCDC39):c.1603G>T (p.Glu535Ter)
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NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)
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NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter)
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NM_181426.2(CCDC39):c.163_164del (p.Met55fs)
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rs878855280
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NM_181426.2(CCDC39):c.1644del (p.Asp548fs)
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rs863224531
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NM_181426.2(CCDC39):c.1674_1675dup (p.Ile559fs)
|
rs2108418891
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NM_181426.2(CCDC39):c.1693A>T (p.Lys565Ter)
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NM_181426.2(CCDC39):c.1705A>T (p.Lys569Ter)
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NM_181426.2(CCDC39):c.1731dup (p.Lys578Ter)
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NM_181426.2(CCDC39):c.1753del (p.Ser584_Leu585insTer)
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NM_181426.2(CCDC39):c.1756del (p.Glu586fs)
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rs1285431486
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NM_181426.2(CCDC39):c.1801G>T (p.Glu601Ter)
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NM_181426.2(CCDC39):c.1833del (p.Ser612fs)
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rs1256848235
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NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer)
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rs1576941580
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NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)
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rs1560086701
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NM_181426.2(CCDC39):c.1874+1G>A
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rs1553803540
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NM_181426.2(CCDC39):c.1876_1877dup (p.Glu627fs)
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NM_181426.2(CCDC39):c.1939_1940del (p.Val647fs)
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NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)
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rs1717695462
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NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter)
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rs762287443
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NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)
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rs1174553107
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NM_181426.2(CCDC39):c.210+2T>C
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NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
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NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
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rs587778820
|
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NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter)
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|
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NM_181426.2(CCDC39):c.2250del (p.Gln751fs)
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NM_181426.2(CCDC39):c.284del (p.Gly95fs)
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NM_181426.2(CCDC39):c.341del (p.Lys114fs)
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|
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NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter)
|
rs1560092440
|
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NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
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NM_181426.2(CCDC39):c.485dup (p.Tyr163fs)
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|
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NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter)
|
rs1711717951
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NM_181426.2(CCDC39):c.526_527del (p.Leu176fs)
|
rs780175755
|
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NM_181426.2(CCDC39):c.529C>T (p.Gln177Ter)
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|
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NM_181426.2(CCDC39):c.542dup (p.Thr182fs)
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|
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NM_181426.2(CCDC39):c.547_548del (p.Leu183fs)
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rs758482424
|
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NM_181426.2(CCDC39):c.570_571del (p.Lys190fs)
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rs1560092160
|
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NM_181426.2(CCDC39):c.590_591dup (p.Glu198fs)
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rs1553805740
|
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NM_181426.2(CCDC39):c.610-2A>C
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|
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NM_181426.2(CCDC39):c.610_613del
|
rs1415346246
|
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NM_181426.2(CCDC39):c.662_663del (p.Gln221fs)
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NM_181426.2(CCDC39):c.669_670insTA (p.Ile224Ter)
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NM_181426.2(CCDC39):c.706A>T (p.Lys236Ter)
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NM_181426.2(CCDC39):c.74del (p.Lys25fs)
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NM_181426.2(CCDC39):c.811del (p.Ser271fs)
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NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
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rs773801386
|
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NM_181426.2(CCDC39):c.840_841del (p.Arg282fs)
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|
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NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter)
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NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter)
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NM_181426.2(CCDC39):c.931-1G>T
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NM_181426.2(CCDC39):c.945_951del (p.Lys315_Ala316insTer)
|
rs1560090006
|
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NM_181426.2(CCDC39):c.949dup (p.Thr317fs)
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|
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NM_181426.2(CCDC39):c.95C>G (p.Ser32Ter)
|
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