NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
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.4561-9T>A
|
rs79924167
|
0.02103
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
NM_133433.4(NIPBL):c.5863-30A>G
|
rs199888273
|
0.00781
|
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.6109-3T>C
|
rs145778995
|
0.00354
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_133433.4(NIPBL):c.3502+17A>C
|
rs144725401
|
0.00230
|
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
|
rs141851878
|
0.00076
|
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)
|
rs148394805
|
0.00064
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr)
|
rs138514909
|
0.00043
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)
|
rs142820200
|
0.00032
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser)
|
rs560785308
|
0.00016
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)
|
rs146702130
|
0.00009
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
0.00003
|
NM_133433.4(NIPBL):c.300G>A (p.Leu100=)
|
rs768550843
|
0.00002
|
NM_133433.4(NIPBL):c.5226-4G>A
|
rs370826969
|
0.00002
|
NM_133433.4(NIPBL):c.123C>T (p.Leu41=)
|
rs774269226
|
0.00001
|
NM_133433.4(NIPBL):c.2910T>C (p.Thr970=)
|
rs1045615108
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3574+20A>C
|
rs530238141
|
0.00001
|
NM_133433.4(NIPBL):c.4087+9G>A
|
rs757255852
|
0.00001
|
NM_133433.4(NIPBL):c.4561-10T>C
|
rs763125929
|
0.00001
|
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg)
|
rs528591545
|
0.00001
|
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
|
|
|
NM_133433.4(NIPBL):c.1168A>G (p.Ile390Val)
|
|
|
NM_133433.4(NIPBL):c.1222C>T (p.Gln408Ter)
|
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1378T>C (p.Ser460Pro)
|
|
|
NM_133433.4(NIPBL):c.1413G>A (p.Leu471=)
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
|
|
|
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
|
|
|
NM_133433.4(NIPBL):c.1808dup (p.Ser604fs)
|
rs727503767
|
|
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
|
|
|
NM_133433.4(NIPBL):c.1948G>A (p.Glu650Lys)
|
|
|
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
|
|
|
NM_133433.4(NIPBL):c.2264C>A (p.Pro755His)
|
|
|
NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)
|
|
|
NM_133433.4(NIPBL):c.2424A>G (p.Arg808=)
|
|
|
NM_133433.4(NIPBL):c.2510A>C (p.Gln837Pro)
|
|
|
NM_133433.4(NIPBL):c.2599G>A (p.Glu867Lys)
|
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
|
|
|
NM_133433.4(NIPBL):c.2656C>T (p.Gln886Ter)
|
|
|
NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys)
|
|
|
NM_133433.4(NIPBL):c.2711G>C (p.Arg904Thr)
|
|
|
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)
|
|
|
NM_133433.4(NIPBL):c.3055G>C (p.Asp1019His)
|
|
|
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr)
|
|
|
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=)
|
rs140344071
|
|
NM_133433.4(NIPBL):c.3479C>T (p.Ser1160Phe)
|
|
|
NM_133433.4(NIPBL):c.3540A>G (p.Lys1180=)
|
|
|
NM_133433.4(NIPBL):c.3575-9C>G
|
|
|
NM_133433.4(NIPBL):c.3855+8T>G
|
|
|
NM_133433.4(NIPBL):c.4070G>A (p.Arg1357Lys)
|
|
|
NM_133433.4(NIPBL):c.458+4A>G
|
|
|
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
|
|
|
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
|
|
|
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)
|
|
|
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
|
|
|
NM_133433.4(NIPBL):c.5241T>G (p.Thr1747=)
|
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.5329-8_5329-5del
|
|
|
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_133433.4(NIPBL):c.5710-13C>T
|
rs562131143
|
|
NM_133433.4(NIPBL):c.5710-22T>C
|
|
|
NM_133433.4(NIPBL):c.5863-23_5863-2del
|
|
|
NM_133433.4(NIPBL):c.5863-31TA[9]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.5863-32G>A
|
|
|
NM_133433.4(NIPBL):c.6089A>G (p.Tyr2030Cys)
|
|
|
NM_133433.4(NIPBL):c.618A>G (p.Val206=)
|
|
|
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
|
|
|
NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=)
|
|
|
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
|
rs1579570362
|
|
NM_133433.4(NIPBL):c.6748C>T (p.Gln2250Ter)
|
|
|
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
|
|
|
NM_133433.4(NIPBL):c.6854A>G (p.Gln2285Arg)
|
|
|
NM_133433.4(NIPBL):c.6873dup (p.His2292fs)
|
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.6923_6927del (p.Thr2308fs)
|
|
|
NM_133433.4(NIPBL):c.7098G>A (p.Gln2366=)
|
|
|
NM_133433.4(NIPBL):c.7117A>G (p.Thr2373Ala)
|
|
|
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
|
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7220G>A (p.Arg2407Gln)
|
|
|
NM_133433.4(NIPBL):c.732T>C (p.Ser244=)
|
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.73C>T (p.Gln25Ter)
|
|
|
NM_133433.4(NIPBL):c.7485A>G (p.Glu2495=)
|
|
|
NM_133433.4(NIPBL):c.7686-8C>A
|
|
|
NM_133433.4(NIPBL):c.7691T>C (p.Ile2564Thr)
|
|
|
NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln)
|
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133433.4(NIPBL):c.7882C>T (p.Leu2628=)
|
|
|
NM_133433.4(NIPBL):c.8249A>G (p.Glu2750Gly)
|
|
|
NM_133433.4(NIPBL):c.832G>A (p.Val278Ile)
|
|
|
NM_133433.4(NIPBL):c.894A>G (p.Gln298=)
|
rs587784064
|
|