NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)
|
rs560785308
|
0.00016
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg)
|
rs746789978
|
0.00007
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00007
|
NM_133433.4(NIPBL):c.6954+3A>G
|
rs769439754
|
0.00007
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
0.00006
|
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala)
|
rs773534683
|
0.00005
|
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser)
|
rs143152112
|
0.00005
|
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)
|
rs371073215
|
0.00004
|
NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg)
|
rs1198125549
|
0.00004
|
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val)
|
rs749926228
|
0.00004
|
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)
|
rs772009624
|
0.00004
|
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys)
|
rs774109272
|
0.00004
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe)
|
rs540365485
|
0.00003
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
0.00003
|
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His)
|
rs770286768
|
0.00003
|
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val)
|
rs141010980
|
0.00002
|
NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys)
|
rs571300383
|
0.00002
|
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly)
|
rs780665254
|
0.00002
|
NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr)
|
rs747918239
|
0.00002
|
NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val)
|
rs1223302517
|
0.00002
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp)
|
rs587783881
|
0.00001
|
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met)
|
rs574981584
|
0.00001
|
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)
|
rs144289137
|
0.00001
|
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly)
|
rs144812404
|
0.00001
|
NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp)
|
rs774516564
|
0.00001
|
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln)
|
rs757394370
|
0.00001
|
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)
|
rs201163469
|
0.00001
|
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His)
|
rs918012033
|
0.00001
|
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu)
|
rs587783916
|
0.00001
|
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn)
|
rs587783920
|
0.00001
|
NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu)
|
rs770936588
|
0.00001
|
NM_133433.4(NIPBL):c.42G>A (p.Ala14=)
|
rs727504045
|
0.00001
|
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln)
|
rs200692598
|
0.00001
|
NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser)
|
rs150683463
|
0.00001
|
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu)
|
rs886042731
|
0.00001
|
NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys)
|
rs1355970346
|
0.00001
|
NM_133433.4(NIPBL):c.617T>A (p.Val206Glu)
|
rs1742780375
|
0.00001
|
NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp)
|
rs773286952
|
0.00001
|
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser)
|
rs794727675
|
0.00001
|
NC_000005.9:g.(?_37002744)_(37046321_?)dup
|
|
|
NM_133433.4(NIPBL):c.-315del
|
|
|
NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala)
|
|
|
NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly)
|
|
|
NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile)
|
|
|
NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)
|
|
|
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg)
|
rs1743395526
|
|
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
|
|
|
NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr)
|
|
|
NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)
|
|
|
NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu)
|
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
NM_133433.4(NIPBL):c.1235G>A (p.Arg412His)
|
|
|
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly)
|
rs894352601
|
|
NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg)
|
|
|
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
|
|
|
NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln)
|
|
|
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
|
rs1017711925
|
|
NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn)
|
|
|
NM_133433.4(NIPBL):c.1560T>G (p.Gly520=)
|
|
|
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
|
|
|
NM_133433.4(NIPBL):c.1626C>T (p.Ser542=)
|
|
|
NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr)
|
|
|
NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly)
|
rs2149643225
|
|
NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val)
|
|
|
NM_133433.4(NIPBL):c.1678G>C (p.Asp560His)
|
|
|
NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr)
|
|
|
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
|
|
|
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
|
|
|
NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr)
|
|
|
NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg)
|
|
|
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
|
|
|
NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp)
|
|
|
NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr)
|
|
|
NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser)
|
|
|
NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly)
|
|
|
NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del)
|
|
|
NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu)
|
|
|
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
|
|
|
NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala)
|
rs2149644038
|
|
NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro)
|
|
|
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
|
|
|
NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser)
|
|
|
NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile)
|
|
|
NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys)
|
|
|
NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)
|
|
|
NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg)
|
|
|
NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys)
|
|
|
NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser)
|
|
|
NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala)
|
|
|
NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu)
|
|
|
NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln)
|
rs1744671339
|
|
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
|
|
|
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
|
|
|
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)
|
rs376912534
|
|
NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro)
|
|
|
NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu)
|
|
|
NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe)
|
|
|
NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr)
|
|
|
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
|
|
|
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
|
|
|
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
|
|
|
NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser)
|
|
|
NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)
|
|
|
NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys)
|
|
|
NM_133433.4(NIPBL):c.2681G>A (p.Arg894His)
|
rs775238155
|
|
NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr)
|
|
|
NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu)
|
|
|
NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn)
|
|
|
NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr)
|
|
|
NM_133433.4(NIPBL):c.295G>A (p.Val99Ile)
|
|
|
NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala)
|
|
|
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
|
|
|
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
|
|
|
NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe)
|
|
|
NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)
|
|
|
NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly)
|
|
|
NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)
|
|
|
NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val)
|
|
|
NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly)
|
rs2149668934
|
|
NM_133433.4(NIPBL):c.334A>C (p.Met112Leu)
|
rs1242572717
|
|
NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys)
|
|
|
NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly)
|
rs2149669051
|
|
NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr)
|
|
|
NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)
|
|
|
NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu)
|
|
|
NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile)
|
rs1746709380
|
|
NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg)
|
|
|
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)
|
rs892589257
|
|
NM_133433.4(NIPBL):c.3574+12_3574+16del
|
|
|
NM_133433.4(NIPBL):c.3575-3_3575-2insG
|
|
|
NM_133433.4(NIPBL):c.358+3G>C
|
rs1580330420
|
|
NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile)
|
|
|
NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu)
|
|
|
NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe)
|
|
|
NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro)
|
|
|
NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn)
|
rs2149673199
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
|
|
|
NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys)
|
rs1741620942
|
|
NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala)
|
|
|
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys)
|
rs886042218
|
|
NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys)
|
rs1747444771
|
|
NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly)
|
|
|
NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr)
|
|
|
NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr)
|
rs2149677952
|
|
NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)
|
|
|
NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala)
|
|
|
NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly)
|
|
|
NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)
|
|
|
NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val)
|
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val)
|
|
|
NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del)
|
|
|
NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=)
|
|
|
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile)
|
rs1351097452
|
|
NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu)
|
|
|
NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)
|
|
|
NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln)
|
|
|
NM_133433.4(NIPBL):c.460C>A (p.Arg154=)
|
|
|
NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser)
|
rs1447713911
|
|
NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg)
|
|
|
NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)
|
|
|
NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp)
|
rs1749083607
|
|
NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala)
|
|
|
NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu)
|
rs772077115
|
|
NM_133433.4(NIPBL):c.4920+5T>G
|
|
|
NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn)
|
|
|
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)
|
|
|
NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln)
|
|
|
NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)
|
|
|
NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala)
|
|
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
|
|
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)
|
rs886060558
|
|
NM_133433.4(NIPBL):c.5226-3C>T
|
|
|
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
|
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln)
|
|
|
NM_133433.4(NIPBL):c.5574+5G>T
|
|
|
NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val)
|
rs1750049593
|
|
NM_133433.4(NIPBL):c.5709+4G>C
|
|
|
NM_133433.4(NIPBL):c.571C>T (p.His191Tyr)
|
|
|
NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)
|
|
|
NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del)
|
rs1750256312
|
|
NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn)
|
|
|
NM_133433.4(NIPBL):c.5808+6_5808+8del
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NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)
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NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser)
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NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe)
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rs1554030218
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NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
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NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr)
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rs2149607994
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NM_133433.4(NIPBL):c.611-3C>T
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NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu)
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NM_133433.4(NIPBL):c.616G>A (p.Val206Ile)
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NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
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rs587783999
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NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del)
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rs1554031820
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NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=)
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rs1131691272
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NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg)
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NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser)
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NM_133433.4(NIPBL):c.6343+4A>T
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rs1344872907
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NM_133433.4(NIPBL):c.64+4del
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rs1740653321
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NM_133433.4(NIPBL):c.64+5G>A
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rs587784011
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NM_133433.4(NIPBL):c.64+6T>A
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rs1554010766
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NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe)
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NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
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rs1579561078
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NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser)
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NM_133433.4(NIPBL):c.667G>C (p.Val223Leu)
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NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu)
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NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
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rs587784023
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NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=)
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NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
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NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp)
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NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly)
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rs2149737924
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NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)
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rs1064796744
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NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
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NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys)
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NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile)
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NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)
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NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
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NM_133433.4(NIPBL):c.7263+3A>G
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rs1554033589
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NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
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NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro)
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rs2149750216
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NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn)
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NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu)
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NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr)
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NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
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NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys)
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rs1561224805
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NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
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NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
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rs759115050
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NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)
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NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln)
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NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=)
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rs1754384795
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NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
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rs587784044
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NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)
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NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly)
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rs756187678
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NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
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NM_133433.4(NIPBL):c.760C>T (p.Leu254=)
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NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His)
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NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
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NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys)
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rs80358351
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NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg)
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NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln)
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NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr)
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rs2149755591
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NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro)
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NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
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NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)
|
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NM_133433.4(NIPBL):c.790A>G (p.Met264Val)
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NM_133433.4(NIPBL):c.8049+6G>A
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NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys)
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NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu)
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NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)
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NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile)
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NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del)
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NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
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NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
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NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu)
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NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr)
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NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp)
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NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala)
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NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr)
|
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NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg)
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NM_133433.4(NIPBL):c.868+4C>G
|
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NM_133433.4(NIPBL):c.868+4C>T
|
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NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)
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NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)
|
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NM_133433.4(NIPBL):c.904C>G (p.Leu302Val)
|
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NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
|
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NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly)
|
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NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
|
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NM_133433.4(NIPBL):c.971A>T (p.Lys324Met)
|
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