NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00134
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00017
|
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser)
|
rs190086412
|
0.00009
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
0.00009
|
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val)
|
rs999526286
|
0.00007
|
NM_133433.4(NIPBL):c.5574+5G>T
|
rs745769829
|
0.00007
|
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu)
|
rs370593530
|
0.00007
|
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)
|
rs368151265
|
0.00007
|
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp)
|
rs148420552
|
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.614C>T (p.Ser205Leu)
|
rs576532771
|
0.00005
|
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly)
|
rs539552810
|
0.00004
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)
|
rs772009624
|
0.00004
|
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp)
|
rs766108812
|
0.00003
|
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
|
rs146714879
|
0.00003
|
NM_133433.4(NIPBL):c.3295G>A (p.Ala1099Thr)
|
rs752294556
|
0.00003
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00003
|
NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)
|
rs1359332855
|
0.00003
|
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val)
|
rs749926228
|
0.00002
|
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser)
|
rs375928290
|
0.00002
|
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)
|
rs200872976
|
0.00002
|
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
|
rs988018153
|
0.00002
|
NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu)
|
rs758313905
|
0.00001
|
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile)
|
rs759134070
|
0.00001
|
NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val)
|
rs886044139
|
0.00001
|
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)
|
rs144289137
|
0.00001
|
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)
|
rs925563626
|
0.00001
|
NM_133433.4(NIPBL):c.230+10A>T
|
rs1342924796
|
0.00001
|
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala)
|
rs1040265113
|
0.00001
|
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln)
|
rs142574933
|
0.00001
|
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp)
|
rs746297367
|
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.3340G>A (p.Ala1114Thr)
|
rs534319970
|
0.00001
|
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro)
|
rs141976717
|
0.00001
|
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro)
|
rs1056274601
|
0.00001
|
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu)
|
rs886042731
|
0.00001
|
NM_133433.4(NIPBL):c.4921-4A>G
|
rs368263380
|
0.00001
|
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)
|
rs775077572
|
0.00001
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
rs749567855
|
0.00001
|
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val)
|
rs1368217611
|
0.00001
|
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)
|
rs766934075
|
0.00001
|
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
|
rs756243240
|
0.00001
|
NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His)
|
rs761787560
|
0.00001
|
NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln)
|
rs1561227446
|
0.00001
|
NM_133433.4(NIPBL):c.1103C>T (p.Ser368Leu)
|
|
|
NM_133433.4(NIPBL):c.1207A>G (p.Thr403Ala)
|
|
|
NM_133433.4(NIPBL):c.1211C>T (p.Pro404Leu)
|
|
|
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr)
|
rs546539357
|
|
NM_133433.4(NIPBL):c.128A>G (p.Asn43Ser)
|
|
|
NM_133433.4(NIPBL):c.1348A>G (p.Thr450Ala)
|
|
|
NM_133433.4(NIPBL):c.1362G>T (p.Gln454His)
|
|
|
NM_133433.4(NIPBL):c.1394T>C (p.Ile465Thr)
|
|
|
NM_133433.4(NIPBL):c.149T>G (p.Val50Gly)
|
|
|
NM_133433.4(NIPBL):c.1586G>A (p.Gly529Asp)
|
|
|
NM_133433.4(NIPBL):c.164C>T (p.Ala55Val)
|
|
|
NM_133433.4(NIPBL):c.166T>C (p.Cys56Arg)
|
|
|
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val)
|
rs1267072334
|
|
NM_133433.4(NIPBL):c.1706A>G (p.Glu569Gly)
|
|
|
NM_133433.4(NIPBL):c.1735T>A (p.Ser579Thr)
|
|
|
NM_133433.4(NIPBL):c.1832G>T (p.Ser611Ile)
|
|
|
NM_133433.4(NIPBL):c.184G>C (p.Val62Leu)
|
rs2478987184
|
|
NM_133433.4(NIPBL):c.1857A>G (p.Arg619=)
|
|
|
NM_133433.4(NIPBL):c.1891G>C (p.Val631Leu)
|
|
|
NM_133433.4(NIPBL):c.1937C>A (p.Thr646Asn)
|
|
|
NM_133433.4(NIPBL):c.1945G>A (p.Glu649Lys)
|
|
|
NM_133433.4(NIPBL):c.1991A>T (p.Asn664Ile)
|
|
|
NM_133433.4(NIPBL):c.200A>G (p.His67Arg)
|
rs1388552505
|
|
NM_133433.4(NIPBL):c.2011C>A (p.Pro671Thr)
|
|
|
NM_133433.4(NIPBL):c.2078C>T (p.Ser693Leu)
|
|
|
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser)
|
rs2149599601
|
|
NM_133433.4(NIPBL):c.2164C>A (p.Pro722Thr)
|
|
|
NM_133433.4(NIPBL):c.2164C>T (p.Pro722Ser)
|
|
|
NM_133433.4(NIPBL):c.2261G>A (p.Arg754Gln)
|
|
|
NM_133433.4(NIPBL):c.2334A>C (p.Glu778Asp)
|
|
|
NM_133433.4(NIPBL):c.2375G>C (p.Arg792Pro)
|
rs376912534
|
|
NM_133433.4(NIPBL):c.2456A>G (p.Asp819Gly)
|
|
|
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)
|
rs769307619
|
|
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys)
|
rs372453541
|
|
NM_133433.4(NIPBL):c.2556T>G (p.Asn852Lys)
|
|
|
NM_133433.4(NIPBL):c.2573C>T (p.Ser858Phe)
|
|
|
NM_133433.4(NIPBL):c.2576A>T (p.Asp859Val)
|
|
|
NM_133433.4(NIPBL):c.2612G>A (p.Arg871Lys)
|
|
|
NM_133433.4(NIPBL):c.2623G>A (p.Gly875Arg)
|
|
|
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
|
rs1256938703
|
|
NM_133433.4(NIPBL):c.2737C>T (p.Pro913Ser)
|
|
|
NM_133433.4(NIPBL):c.2743A>C (p.Ser915Arg)
|
|
|
NM_133433.4(NIPBL):c.2794A>G (p.Lys932Glu)
|
|
|
NM_133433.4(NIPBL):c.2810A>G (p.Asn937Ser)
|
|
|
NM_133433.4(NIPBL):c.2813A>G (p.Lys938Arg)
|
|
|
NM_133433.4(NIPBL):c.2839G>T (p.Gly947Trp)
|
|
|
NM_133433.4(NIPBL):c.2888G>T (p.Arg963Met)
|
|
|
NM_133433.4(NIPBL):c.2914G>A (p.Glu972Lys)
|
|
|
NM_133433.4(NIPBL):c.2927T>C (p.Met976Thr)
|
|
|
NM_133433.4(NIPBL):c.2968G>A (p.Gly990Arg)
|
|
|
NM_133433.4(NIPBL):c.3002C>T (p.Pro1001Leu)
|
|
|
NM_133433.4(NIPBL):c.3028T>A (p.Leu1010Met)
|
|
|
NM_133433.4(NIPBL):c.302C>T (p.Ala101Val)
|
|
|
NM_133433.4(NIPBL):c.3042G>C (p.Gln1014His)
|
|
|
NM_133433.4(NIPBL):c.3064G>A (p.Asp1022Asn)
|
|
|
NM_133433.4(NIPBL):c.3241G>C (p.Glu1081Gln)
|
|
|
NM_133433.4(NIPBL):c.3288TGA[1] (p.Asp1097del)
|
|
|
NM_133433.4(NIPBL):c.3411AAG[1] (p.Arg1139del)
|
|
|
NM_133433.4(NIPBL):c.3415A>T (p.Arg1139Trp)
|
|
|
NM_133433.4(NIPBL):c.3433C>T (p.Arg1145Cys)
|
|
|
NM_133433.4(NIPBL):c.3439C>G (p.Arg1147Gly)
|
|
|
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)
|
rs750517408
|
|
NM_133433.4(NIPBL):c.3502+8A>G
|
|
|
NM_133433.4(NIPBL):c.3512A>T (p.Lys1171Ile)
|
|
|
NM_133433.4(NIPBL):c.3647T>C (p.Met1216Thr)
|
|
|
NM_133433.4(NIPBL):c.3664+4A>G
|
|
|
NM_133433.4(NIPBL):c.3706C>T (p.His1236Tyr)
|
|
|
NM_133433.4(NIPBL):c.3757A>G (p.Ile1253Val)
|
|
|
NM_133433.4(NIPBL):c.3863A>T (p.Asp1288Val)
|
|
|
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del)
|
rs773996562
|
|
NM_133433.4(NIPBL):c.3943A>G (p.Ile1315Val)
|
|
|
NM_133433.4(NIPBL):c.3990G>C (p.Glu1330Asp)
|
|
|
NM_133433.4(NIPBL):c.4052A>G (p.Gln1351Arg)
|
|
|
NM_133433.4(NIPBL):c.406A>C (p.Ser136Arg)
|
|
|
NM_133433.4(NIPBL):c.4100G>A (p.Ser1367Asn)
|
|
|
NM_133433.4(NIPBL):c.412_413delinsCT (p.Ala138Leu)
|
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
NM_133433.4(NIPBL):c.4421+4A>C
|
|
|
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg)
|
rs1554022448
|
|
NM_133433.4(NIPBL):c.466G>A (p.Val156Met)
|
|
|
NM_133433.4(NIPBL):c.466G>T (p.Val156Leu)
|
|
|
NM_133433.4(NIPBL):c.4777-5T>C
|
|
|
NM_133433.4(NIPBL):c.4884A>C (p.Lys1628Asn)
|
|
|
NM_133433.4(NIPBL):c.4935A>C (p.Glu1645Asp)
|
|
|
NM_133433.4(NIPBL):c.506A>G (p.Gln169Arg)
|
|
|
NM_133433.4(NIPBL):c.512A>G (p.Asn171Ser)
|
|
|
NM_133433.4(NIPBL):c.5150T>C (p.Met1717Thr)
|
|
|
NM_133433.4(NIPBL):c.5153A>G (p.His1718Arg)
|
|
|
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)
|
rs773164199
|
|
NM_133433.4(NIPBL):c.5315T>C (p.Ile1772Thr)
|
|
|
NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg)
|
rs1447433878
|
|
NM_133433.4(NIPBL):c.5416A>G (p.Ile1806Val)
|
|
|
NM_133433.4(NIPBL):c.5462T>C (p.Met1821Thr)
|
|
|
NM_133433.4(NIPBL):c.5510G>T (p.Arg1837Leu)
|
|
|
NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu)
|
rs2149702419
|
|
NM_133433.4(NIPBL):c.5709+20A>G
|
|
|
NM_133433.4(NIPBL):c.5762A>T (p.Asn1921Ile)
|
rs587783983
|
|
NM_133433.4(NIPBL):c.5791T>G (p.Leu1931Val)
|
|
|
NM_133433.4(NIPBL):c.5797A>G (p.Ile1933Val)
|
|
|
NM_133433.4(NIPBL):c.5862C>T (p.Asn1954=)
|
|
|
NM_133433.4(NIPBL):c.5863-15T>A
|
|
|
NM_133433.4(NIPBL):c.5915C>T (p.Thr1972Ile)
|
|
|
NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu)
|
rs762487890
|
|
NM_133433.4(NIPBL):c.6084A>G (p.Gln2028=)
|
|
|
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser)
|
rs2478517899
|
|
NM_133433.4(NIPBL):c.6108T>C (p.Ser2036=)
|
|
|
NM_133433.4(NIPBL):c.6110C>T (p.Thr2037Met)
|
|
|
NM_133433.4(NIPBL):c.6140T>C (p.Val2047Ala)
|
|
|
NM_133433.4(NIPBL):c.6177G>T (p.Glu2059Asp)
|
|
|
NM_133433.4(NIPBL):c.6262T>G (p.Cys2088Gly)
|
|
|
NM_133433.4(NIPBL):c.6333T>C (p.Asn2111=)
|
|
|
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
|
rs1579561078
|
|
NM_133433.4(NIPBL):c.6498+4_6498+9del
|
rs1167724948
|
|
NM_133433.4(NIPBL):c.64C>T (p.Leu22Phe)
|
|
|
NM_133433.4(NIPBL):c.6617T>C (p.Leu2206Pro)
|
|
|
NM_133433.4(NIPBL):c.6625G>A (p.Glu2209Lys)
|
|
|
NM_133433.4(NIPBL):c.6669G>T (p.Lys2223Asn)
|
|
|
NM_133433.4(NIPBL):c.671C>A (p.Ser224Tyr)
|
|
|
NM_133433.4(NIPBL):c.6954+6C>T
|
|
|
NM_133433.4(NIPBL):c.7038C>A (p.Asp2346Glu)
|
|
|
NM_133433.4(NIPBL):c.7049C>G (p.Ala2350Gly)
|
|
|
NM_133433.4(NIPBL):c.7063-19A>T
|
|
|
NM_133433.4(NIPBL):c.7063-7A>T
|
|
|
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His)
|
rs2478658915
|
|
NM_133433.4(NIPBL):c.7337C>T (p.Pro2446Leu)
|
|
|
NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=)
|
rs752547166
|
|
NM_133433.4(NIPBL):c.7472G>A (p.Ser2491Asn)
|
|
|
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del)
|
rs765215110
|
|
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
|
|
|
NM_133433.4(NIPBL):c.7489G>A (p.Val2497Ile)
|
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
|
|
|
NM_133433.4(NIPBL):c.753G>T (p.Val251=)
|
|
|
NM_133433.4(NIPBL):c.7543_7548del (p.Ser2515_Glu2516del)
|
|
|
NM_133433.4(NIPBL):c.755A>G (p.His252Arg)
|
|
|
NM_133433.4(NIPBL):c.7639C>T (p.Leu2547Phe)
|
|
|
NM_133433.4(NIPBL):c.7738A>G (p.Ile2580Val)
|
|
|
NM_133433.4(NIPBL):c.7768C>G (p.Pro2590Ala)
|
|
|
NM_133433.4(NIPBL):c.7828G>A (p.Val2610Met)
|
|
|
NM_133433.4(NIPBL):c.802G>A (p.Ala268Thr)
|
|
|
NM_133433.4(NIPBL):c.8073T>A (p.Asn2691Lys)
|
|
|
NM_133433.4(NIPBL):c.8101A>G (p.Met2701Val)
|
rs2478768967
|
|
NM_133433.4(NIPBL):c.8125G>T (p.Asp2709Tyr)
|
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NM_133433.4(NIPBL):c.8299A>C (p.Lys2767Gln)
|
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NM_133433.4(NIPBL):c.835T>C (p.Cys279Arg)
|
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NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)
|
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NM_133433.4(NIPBL):c.865A>G (p.Lys289Glu)
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NM_133433.4(NIPBL):c.868+4C>T
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rs751127087
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NM_133433.4(NIPBL):c.872C>T (p.Ser291Leu)
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NM_133433.4(NIPBL):c.89C>G (p.Ser30Cys)
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NM_133433.4(NIPBL):c.9G>T (p.Gly3=)
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