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.-312T>A
|
rs540966156
|
0.00284
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449
|
0.00229
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
|
rs141851878
|
0.00076
|
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.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_133433.4(NIPBL):c.*334G>A
|
rs181989563
|
0.00040
|
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)
|
rs142703446
|
0.00029
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=)
|
rs61755038
|
0.00011
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=)
|
rs369177620
|
0.00004
|
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His)
|
rs770286768
|
0.00003
|
NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly)
|
rs1284101914
|
0.00001
|
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)
|
rs774346043
|
0.00001
|
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=)
|
rs372752190
|
0.00001
|
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro)
|
rs1056274601
|
0.00001
|
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln)
|
rs200692598
|
0.00001
|
NM_133433.4(NIPBL):c.-415del
|
|
|
NM_133433.4(NIPBL):c.-416dup
|
rs886060553
|
|
NM_133433.4(NIPBL):c.-79-1563_-79-1534del
|
rs1395841873
|
|
NM_133433.4(NIPBL):c.-79-1563_-79-1540del
|
|
|
NM_133433.4(NIPBL):c.-79-1564GC[6]
|
rs1554010277
|
|
NM_133433.4(NIPBL):c.-79-1569_-79-1562del
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[14]
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[15]
|
|
|
NM_133433.4(NIPBL):c.-79-1599TG[17]
|
|
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NM_133433.4(NIPBL):c.-79-1599TG[26]
|
|
|
NM_133433.4(NIPBL):c.-80+5del
|
rs532015680
|
|
NM_133433.4(NIPBL):c.1332T>C (p.Ala444=)
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala)
|
|
|
NM_133433.4(NIPBL):c.1604C>T (p.Ser535Leu)
|
|
|
NM_133433.4(NIPBL):c.1677G>A (p.Gln559=)
|
rs1580394271
|
|
NM_133433.4(NIPBL):c.200A>G (p.His67Arg)
|
rs1388552505
|
|
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
|
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
NM_133433.4(NIPBL):c.2390G>A (p.Arg797Gln)
|
|
|
NM_133433.4(NIPBL):c.2648C>T (p.Ser883Phe)
|
|
|
NM_133433.4(NIPBL):c.3211A>G (p.Met1071Val)
|
rs2149662599
|
|
NM_133433.4(NIPBL):c.3286A>G (p.Ser1096Gly)
|
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
|
|
|
NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala)
|
rs2149607016
|
|
NM_133433.4(NIPBL):c.3780C>A (p.Asp1260Glu)
|
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
NM_133433.4(NIPBL):c.3877G>A (p.Glu1293Lys)
|
|
|
NM_133433.4(NIPBL):c.3914C>G (p.Thr1305Arg)
|
rs1419407546
|
|
NM_133433.4(NIPBL):c.444A>C (p.Ser148=)
|
|
|
NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=)
|
|
|
NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=)
|
|
|
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)
|
|
|
NM_133433.4(NIPBL):c.5225+2_5225+5del
|
|
|
NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg)
|
rs1447433878
|
|
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)
|
|
|
NM_133433.4(NIPBL):c.5891A>G (p.Tyr1964Cys)
|
rs1467853729
|
|
NM_133433.4(NIPBL):c.6163G>A (p.Val2055Ile)
|
|
|
NM_133433.4(NIPBL):c.6604C>A (p.Gln2202Lys)
|
rs1753197620
|
|
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del)
|
rs2149737108
|
|
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
|
|
|
NM_133433.4(NIPBL):c.7166G>T (p.Ser2389Ile)
|
rs371336448
|
|
NM_133433.4(NIPBL):c.7168G>T (p.Ala2390Ser)
|
|
|
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
|
|
|
NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=)
|
|
|
NM_133433.4(NIPBL):c.768T>C (p.Ser256=)
|
|
|
NM_133433.4(NIPBL):c.8049+30G>A
|
|
|
NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter)
|
|
|
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs)
|
rs1554036165
|
|
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
|
|
|
NM_133433.4(NIPBL):c.834A>G (p.Val278=)
|
rs377714862
|
|
NM_133433.4(NIPBL):c.8368C>T (p.Gln2790Ter)
|
rs2149761269
|
|