NM_000127.3(EXT1):c.1633-2A>G
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rs1233701691
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0.00001
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GRCh37/hg19 8q24.11(chr8:119102236-119147280)x1
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NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
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rs119103288
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NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
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rs119103290
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NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
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rs119103287
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NM_000127.3(EXT1):c.1056+1G>T
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rs886039354
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NM_000127.3(EXT1):c.1092G>A (p.Trp364Ter)
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rs1554580035
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NM_000127.3(EXT1):c.1147G>T (p.Glu383Ter)
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rs1057520535
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NM_000127.3(EXT1):c.115del (p.Glu39fs)
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rs1586280217
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NM_000127.3(EXT1):c.1165-1G>A
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rs1812078423
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NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
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rs1369118661
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NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
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NM_000127.3(EXT1):c.1235G>A (p.Trp412Ter)
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rs1563573730
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NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
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rs1587001428
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NM_000127.3(EXT1):c.1237del (p.Glu413fs)
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|
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NM_000127.3(EXT1):c.1323_1324del (p.Asn441fs)
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rs1586997875
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NM_000127.3(EXT1):c.1417+1G>T
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rs1586997796
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NM_000127.3(EXT1):c.1431del (p.Ser478fs)
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rs1554578798
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NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
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rs1554578798
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NM_000127.3(EXT1):c.1461_1465del (p.Thr488fs)
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rs1586996629
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NM_000127.3(EXT1):c.1468del (p.Leu490fs)
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rs886039355
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NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
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rs886039355
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NM_000127.3(EXT1):c.1469del (p.Leu490fs)
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rs886039356
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NM_000127.3(EXT1):c.1536+1G>A
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rs1811889441
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NM_000127.3(EXT1):c.1557T>A (p.Cys519Ter)
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rs1554578706
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NM_000127.3(EXT1):c.1575del (p.Lys526fs)
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NM_000127.3(EXT1):c.15dup (p.Arg6fs)
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rs759834555
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NM_000127.3(EXT1):c.1633-1G>T
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rs1823354043
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NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
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rs1554657927
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NM_000127.3(EXT1):c.1726_1727insT (p.Asp576fs)
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rs1064794137
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NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
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rs1586990398
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NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
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rs1554657437
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NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
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rs886039357
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NM_000127.3(EXT1):c.1884-1G>C
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rs1131691623
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NM_000127.3(EXT1):c.1909dup (p.Tyr637fs)
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NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
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rs1131692020
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NM_000127.3(EXT1):c.2034T>G (p.Tyr678Ter)
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rs1554657213
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NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
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rs1363815113
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NM_000127.3(EXT1):c.247del (p.Arg83fs)
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rs1554601559
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NM_000127.3(EXT1):c.247dup (p.Arg83fs)
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rs1554601559
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NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
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rs1064793753
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NM_000127.3(EXT1):c.313del (p.Asp105fs)
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rs1554601550
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NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
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rs119103289
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NM_000127.3(EXT1):c.362del (p.Gln121fs)
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rs1064793465
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NM_000127.3(EXT1):c.416del (p.Glu139fs)
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rs1817880834
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NM_000127.3(EXT1):c.456C>A (p.Cys152Ter)
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rs1554601534
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NM_000127.3(EXT1):c.45_46del (p.Cys16fs)
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rs2130045941
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NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
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rs1817879125
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NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)
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rs886039561
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NM_000127.3(EXT1):c.538_539del (p.Leu181fs)
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rs886039486
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NM_000127.3(EXT1):c.61_62insAA (p.Phe21Ter)
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rs1064795778
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NM_000127.3(EXT1):c.637C>T (p.Gln213Ter)
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rs2130042549
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NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
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rs1817893036
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NM_000127.3(EXT1):c.713del (p.Ser238fs)
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rs2130042099
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NM_000127.3(EXT1):c.719del (p.Asp240fs)
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rs1817872593
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NM_000127.3(EXT1):c.742del (p.Arg248fs)
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|
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NM_000127.3(EXT1):c.819_820del (p.Gly274fs)
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rs886041699
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NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
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rs1057520608
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NM_000127.3(EXT1):c.854dup (p.His285fs)
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rs1554601476
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NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
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rs1554601474
|
|
NM_000127.3(EXT1):c.917dup (p.His307fs)
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rs1554601473
|
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NM_000127.3(EXT1):c.962+1G>T
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rs886039353
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NM_000127.3(EXT1):c.963-1G>C
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rs1554580160
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NM_000127.3(EXT1):c.972T>A (p.Tyr324Ter)
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rs1554580158
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