NC_000005.10:g.(?_36877164)_(37064912_?)del
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NC_000005.10:g.(?_36953616)_(37017182_?)del
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NC_000005.10:g.(?_37038582)_(37038758_?)del
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NC_000005.10:g.(?_37044327)_(37049321_?)del
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NC_000005.9:g.(?_36953718)_(37027534_?)del
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NC_000005.9:g.(?_36953799)_(37064994_?)del
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NC_000005.9:g.(?_36958186)_(36962396_?)del
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NC_000005.9:g.(?_36970958)_(37371079_?)del
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NC_000005.9:g.(?_37002744)_(37008845_?)del
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NC_000005.9:g.(?_37036461)_(37036609_?)del
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NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs)
|
rs1743386760
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NM_133433.4(NIPBL):c.1075dup (p.Thr359fs)
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NM_133433.4(NIPBL):c.1145del (p.Asn382fs)
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rs1554015145
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NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter)
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NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
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rs80358367
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NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)
|
rs1554015303
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NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter)
|
rs1561102868
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NM_133433.4(NIPBL):c.1495G>C (p.Asp499His)
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NM_133433.4(NIPBL):c.1513dup (p.Arg505fs)
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rs34314728
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NM_133433.4(NIPBL):c.1672del (p.Thr558fs)
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rs2149643317
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NM_133433.4(NIPBL):c.169del (p.Arg57fs)
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rs1554011046
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NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer)
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rs2149643596
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NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs)
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rs2149643696
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NM_133433.4(NIPBL):c.1942del (p.Thr648fs)
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rs2149644023
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NM_133433.4(NIPBL):c.1956dup (p.Gln653fs)
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rs1554017175
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NM_133433.4(NIPBL):c.19del (p.His7fs)
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NM_133433.4(NIPBL):c.2120del (p.Gly707fs)
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rs1580396071
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NM_133433.4(NIPBL):c.2207del (p.Pro736fs)
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rs2149644816
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NM_133433.4(NIPBL):c.230+5G>A
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rs1580323183
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NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs)
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rs1744682329
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NM_133433.4(NIPBL):c.241del (p.Asp81fs)
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rs1741183871
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NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)
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rs1554017345
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NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
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rs398124465
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NM_133433.4(NIPBL):c.2479del (p.Arg827fs)
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rs1744695193
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NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter)
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NM_133433.4(NIPBL):c.2595dup (p.Leu866fs)
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rs1554017441
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NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs)
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NM_133433.4(NIPBL):c.2837dup (p.Leu946fs)
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rs2149646411
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NM_133433.4(NIPBL):c.2997del (p.Lys1000fs)
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rs2149646812
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NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter)
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rs2149646884
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NM_133433.4(NIPBL):c.3040del (p.Gln1014fs)
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rs2149646890
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NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
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rs587783914
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NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)
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rs1741192008
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NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter)
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rs2149647035
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NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter)
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rs1554019667
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NM_133433.4(NIPBL):c.3178del (p.Glu1060fs)
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rs2149662539
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NM_133433.4(NIPBL):c.3248del (p.Pro1083fs)
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rs1554019698
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NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs)
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rs1580425629
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NM_133433.4(NIPBL):c.3304+1G>A
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rs1554019712
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NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
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rs2149668942
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NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter)
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rs2149669144
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NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
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rs80358374
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NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter)
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rs1580436698
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NM_133433.4(NIPBL):c.3485del (p.Pro1162fs)
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|
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NM_133433.4(NIPBL):c.358+1G>T
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rs587783927
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NM_133433.4(NIPBL):c.3646dup (p.Met1216fs)
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NM_133433.4(NIPBL):c.3705dup (p.His1236fs)
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NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter)
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rs2149607039
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NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs)
|
rs1746965734
|
|
NM_133433.4(NIPBL):c.3855+1G>A
|
rs587783933
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|
NM_133433.4(NIPBL):c.3895del (p.Ile1300fs)
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rs1580451470
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NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter)
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rs1561145912
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NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
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rs587783941
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NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs)
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NM_133433.4(NIPBL):c.4320+5G>A
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NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu)
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rs727503769
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NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter)
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|
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NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter)
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rs767317539
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NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs)
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rs2149607105
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NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs)
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rs2149681441
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NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs)
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rs2149681475
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NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter)
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rs751902505
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NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter)
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rs587783952
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NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter)
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rs587783952
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NM_133433.4(NIPBL):c.4643+1G>A
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rs587783954
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NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer)
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rs2149690678
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NM_133433.4(NIPBL):c.4686del (p.Phe1562fs)
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rs1554023967
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NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter)
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|
|
NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs)
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|
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NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer)
|
rs886041810
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NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
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rs797045769
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|
NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs)
|
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
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rs121918267
|
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NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter)
|
rs1554025252
|
|
NM_133433.4(NIPBL):c.5269del (p.Val1757fs)
|
rs2149696978
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.533del (p.Tyr178fs)
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|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
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rs587783973
|
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NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
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rs80358362
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NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter)
|
rs587783975
|
|
NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp)
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rs1749739420
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NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter)
|
rs1554025780
|
|
NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del)
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|
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NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs)
|
rs2149704475
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NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser)
|
rs2149704501
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.5808+2T>C
|
rs794727556
|
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NM_133433.4(NIPBL):c.5972-1G>C
|
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter)
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|
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NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs)
|
rs2149721484
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NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs)
|
rs1554030285
|
|
NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro)
|
|
|
NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln)
|
|
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NM_133433.4(NIPBL):c.6249+5G>A
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|
|
NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter)
|
rs2149732594
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
|
NM_133433.4(NIPBL):c.64+2_64+134del
|
rs1740652803
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6589+5G>A
|
rs1554032266
|
|
NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr)
|
rs1753199066
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs)
|
rs2149737037
|
|
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
|
rs1579570362
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6763+1G>A
|
rs1753212131
|
|
NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter)
|
rs1554032954
|
|
NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg)
|
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.6998del (p.Ala2333fs)
|
rs1561214997
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_133433.4(NIPBL):c.7013del (p.Ala2338fs)
|
rs2149741562
|
|
NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro)
|
|
|
NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg)
|
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro)
|
rs765741574
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs)
|
|
|
NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter)
|
|
|
NM_133433.4(NIPBL):c.7702del (p.Ser2568fs)
|
rs1554035266
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs)
|
rs1754594011
|
|
NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs)
|
rs2149755630
|
|
NM_133433.4(NIPBL):c.7848del (p.Lys2616fs)
|
|
|
NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs)
|
rs1754603855
|
|
NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter)
|
|
|
NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer)
|
rs2149755687
|
|
NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs)
|
rs1755082448
|
|
NM_133433.4(NIPBL):c.8049+1G>A
|
|
|
NM_133433.4(NIPBL):c.8326del (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)
|
rs1157335847
|
|
NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer)
|
rs1755224830
|
|
NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter)
|
|
|