NM_001365902.3(NFIX):c.28-638T>C
|
rs73507341
|
0.12207
|
NM_001365902.3(NFIX):c.1079-80A>G
|
rs8101877
|
0.05934
|
NM_001365902.3(NFIX):c.955+39C>T
|
rs66502314
|
0.05182
|
NM_001365902.3(NFIX):c.1255-102G>A
|
rs8103751
|
0.04796
|
NM_001365902.3(NFIX):c.956-64C>T
|
rs10407976
|
0.04055
|
NM_001365902.3(NFIX):c.1078+46_1078+67dup
|
rs562209867
|
0.03791
|
NM_001365902.3(NFIX):c.560-91C>T
|
rs116307916
|
0.03480
|
NM_001365902.3(NFIX):c.28-1334A>T
|
rs1058993
|
0.02902
|
NM_001365902.3(NFIX):c.27+113C>T
|
rs189556314
|
0.02815
|
NM_001365902.3(NFIX):c.1079-197T>A
|
rs8104665
|
0.02458
|
NM_001365902.3(NFIX):c.1403-136C>G
|
rs148942560
|
0.02298
|
NM_001365902.3(NFIX):c.1078+167C>T
|
rs79733898
|
0.01627
|
NM_001365902.3(NFIX):c.955+274G>A
|
rs74455250
|
0.01268
|
NM_001365902.3(NFIX):c.698-168A>G
|
rs115390279
|
0.00953
|
NM_001365902.3(NFIX):c.1402+85C>T
|
rs182674881
|
0.00674
|
NM_001365902.3(NFIX):c.28-802G>A
|
rs77959013
|
0.00549
|
NM_001365902.3(NFIX):c.955+142C>T
|
rs28667949
|
0.00505
|
NM_001365902.3(NFIX):c.1495-85G>C
|
rs73922306
|
0.00475
|
NM_001365902.3(NFIX):c.1254+72C>A
|
rs7247634
|
0.00427
|
NM_001365902.3(NFIX):c.819-291G>A
|
rs147233452
|
0.00417
|
NM_001365902.3(NFIX):c.1079-98C>T
|
rs185192010
|
0.00376
|
NM_001365902.3(NFIX):c.819-38C>T
|
rs75465940
|
0.00376
|
NM_001365902.3(NFIX):c.1494+280C>T
|
rs189055957
|
0.00368
|
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)
|
rs201174259
|
0.00238
|
NM_001365902.3(NFIX):c.623-35C>G
|
rs75564762
|
0.00101
|
NM_001365902.3(NFIX):c.698-12C>T
|
rs372409455
|
0.00061
|
NM_001365902.3(NFIX):c.183G>A (p.Leu61=)
|
rs369196245
|
0.00044
|
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=)
|
rs761114067
|
0.00031
|
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr)
|
rs372257657
|
0.00011
|
NM_001365902.3(NFIX):c.1018A>G (p.Ser340Gly)
|
rs773638667
|
0.00004
|
NM_001365902.3(NFIX):c.28-354_28-347dup
|
rs772688459
|
0.00004
|
NM_001365902.3(NFIX):c.28-391G>C
|
rs959655759
|
0.00004
|
NM_001365902.3(NFIX):c.222G>A (p.Arg74=)
|
rs541802079
|
0.00001
|
NM_001365902.3(NFIX):c.28-376A>T
|
rs1450179895
|
0.00001
|
NM_001365902.3(NFIX):c.604A>G (p.Ile202Val)
|
rs772764812
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2
|
|
|
GRCh37/hg19 19p13.2(chr19:13135810-13136366)x1
|
|
|
NM_001271043.2(NFIX):c.1104delG
|
rs1085307714
|
|
NM_001365902.3(NFIX):c.1012C>T (p.Gln338Ter)
|
rs772435667
|
|
NM_001365902.3(NFIX):c.1013_1014del (p.Gln338fs)
|
rs1599855670
|
|
NM_001365902.3(NFIX):c.1017C>A (p.Gly339=)
|
rs1599855703
|
|
NM_001365902.3(NFIX):c.1079-218ATT[8]
|
rs533753642
|
|
NM_001365902.3(NFIX):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001365902.3(NFIX):c.1087dup (p.Arg363fs)
|
rs886041647
|
|
NM_001365902.3(NFIX):c.1088G>A (p.Arg363Gln)
|
rs1057524294
|
|
NM_001365902.3(NFIX):c.1113C>T (p.Phe371=)
|
|
|
NM_001365902.3(NFIX):c.1116dup (p.Ser373fs)
|
rs886041432
|
|
NM_001365902.3(NFIX):c.113G>A (p.Arg38His)
|
rs2013223468
|
|
NM_001365902.3(NFIX):c.113_114delinsTT (p.Arg38Leu)
|
rs1555696468
|
|
NM_001365902.3(NFIX):c.1169_1174dup (p.Tyr391_His392insArgTyr)
|
|
|
NM_001365902.3(NFIX):c.1174CAC[3] (p.His395del)
|
|
|
NM_001365902.3(NFIX):c.1188del (p.Gln397fs)
|
rs2017487230
|
|
NM_001365902.3(NFIX):c.1204dup (p.Glu402fs)
|
rs1599862357
|
|
NM_001365902.3(NFIX):c.124A>G (p.Lys42Glu)
|
|
|
NM_001365902.3(NFIX):c.1254+139C>T
|
rs79239346
|
|
NM_001365902.3(NFIX):c.130C>G (p.His44Asp)
|
rs2145191308
|
|
NM_001365902.3(NFIX):c.1350C>G (p.Ser450=)
|
|
|
NM_001365902.3(NFIX):c.1402+3A>G
|
rs2145503512
|
|
NM_001365902.3(NFIX):c.1412C>T (p.Thr471Met)
|
|
|
NM_001365902.3(NFIX):c.142A>G (p.Met48Val)
|
|
|
NM_001365902.3(NFIX):c.1433A>T (p.Asn478Ile)
|
|
|
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys)
|
rs1555696484
|
|
NM_001365902.3(NFIX):c.1495-1G>A
|
|
|
NM_001365902.3(NFIX):c.1495-40C>T
|
|
|
NM_001365902.3(NFIX):c.1509A>G (p.Ter503Trp)
|
|
|
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)
|
rs1555696499
|
|
NM_001365902.3(NFIX):c.166G>T (p.Val56Leu)
|
|
|
NM_001365902.3(NFIX):c.175G>A (p.Glu59Lys)
|
rs2145191691
|
|
NM_001365902.3(NFIX):c.179del (p.Leu60fs)
|
rs2145191753
|
|
NM_001365902.3(NFIX):c.179dup (p.Leu61fs)
|
rs1599737896
|
|
NM_001365902.3(NFIX):c.1A>G (p.Met1Val)
|
rs2145117323
|
|
NM_001365902.3(NFIX):c.209A>G (p.Lys70Arg)
|
|
|
NM_001365902.3(NFIX):c.267_268delinsC (p.Glu89fs)
|
rs1064796288
|
|
NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro)
|
rs2011445354
|
|
NM_001365902.3(NFIX):c.27+279GT[12]
|
rs3046151
|
|
NM_001365902.3(NFIX):c.27+279GT[13]
|
rs3046151
|
|
NM_001365902.3(NFIX):c.27+279GT[15]
|
rs3046151
|
|
NM_001365902.3(NFIX):c.28-1376del
|
rs201731717
|
|
NM_001365902.3(NFIX):c.28-1383_28-1376del
|
rs201731717
|
|
NM_001365902.3(NFIX):c.28-501G>C
|
rs185692550
|
|
NM_001365902.3(NFIX):c.28-891del
|
rs113861190
|
|
NM_001365902.3(NFIX):c.28-891dup
|
rs113861190
|
|
NM_001365902.3(NFIX):c.287C>G (p.Thr96Arg)
|
|
|
NM_001365902.3(NFIX):c.303C>G (p.Pro101=)
|
|
|
NM_001365902.3(NFIX):c.303del (p.Cys102fs)
|
rs886041304
|
|
NM_001365902.3(NFIX):c.303dup (p.Cys102fs)
|
rs886041304
|
|
NM_001365902.3(NFIX):c.304T>A (p.Cys102Ser)
|
|
|
NM_001365902.3(NFIX):c.317C>A (p.Ser106Tyr)
|
|
|
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
|
|
|
NM_001365902.3(NFIX):c.324dup (p.Asp109fs)
|
rs1555696587
|
|
NM_001365902.3(NFIX):c.326A>C (p.Asp109Ala)
|
rs1555696595
|
|
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp)
|
rs1555696603
|
|
NM_001365902.3(NFIX):c.347G>C (p.Arg116Pro)
|
|
|
NM_001365902.3(NFIX):c.348G>C (p.Arg116=)
|
rs1555696606
|
|
NM_001365902.3(NFIX):c.34T>C (p.Phe12Leu)
|
|
|
NM_001365902.3(NFIX):c.355T>C (p.Cys119Arg)
|
|
|
NM_001365902.3(NFIX):c.357C>T (p.Cys119=)
|
rs1599738438
|
|
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)
|
rs797044911
|
|
NM_001365902.3(NFIX):c.362G>A (p.Arg121His)
|
|
|
NM_001365902.3(NFIX):c.370G>A (p.Asp124Asn)
|
rs2013252632
|
|
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)
|
rs2145192745
|
|
NM_001365902.3(NFIX):c.381G>T (p.Trp127Cys)
|
rs2145192782
|
|
NM_001365902.3(NFIX):c.382C>T (p.Arg128Trp)
|
|
|
NM_001365902.3(NFIX):c.383G>A (p.Arg128Gln)
|
|
|
NM_001365902.3(NFIX):c.394G>T (p.Val132Phe)
|
rs2145192919
|
|
NM_001365902.3(NFIX):c.400G>T (p.Val134Leu)
|
|
|
NM_001365902.3(NFIX):c.407T>G (p.Leu136Trp)
|
|
|
NM_001365902.3(NFIX):c.410T>C (p.Phe137Ser)
|
|
|
NM_001365902.3(NFIX):c.41C>G (p.Pro14Arg)
|
rs1041237175
|
|
NM_001365902.3(NFIX):c.421C>A (p.Pro141Thr)
|
|
|
NM_001365902.3(NFIX):c.424dup (p.Leu142fs)
|
rs1599738608
|
|
NM_001365902.3(NFIX):c.428A>G (p.Glu143Gly)
|
|
|
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)
|
rs1599737421
|
|
NM_001365902.3(NFIX):c.442G>T (p.Glu148Ter)
|
rs2013260314
|
|
NM_001365902.3(NFIX):c.445C>T (p.Arg149Trp)
|
|
|
NM_001365902.3(NFIX):c.487G>T (p.Val163Phe)
|
rs2145193544
|
|
NM_001365902.3(NFIX):c.488T>G (p.Val163Gly)
|
rs1057517936
|
|
NM_001365902.3(NFIX):c.496C>T (p.His166Tyr)
|
rs2145193598
|
|
NM_001365902.3(NFIX):c.49G>T (p.Glu17Ter)
|
|
|
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter)
|
rs786205515
|
|
NM_001365902.3(NFIX):c.553A>G (p.Thr185Ala)
|
rs1555696660
|
|
NM_001365902.3(NFIX):c.559+1G>A
|
rs1057518152
|
|
NM_001365902.3(NFIX):c.559+93C>T
|
rs113381182
|
|
NM_001365902.3(NFIX):c.560-132G>C
|
rs80055486
|
|
NM_001365902.3(NFIX):c.581C>T (p.Ser194Leu)
|
|
|
NM_001365902.3(NFIX):c.588G>T (p.Gln196His)
|
|
|
NM_001365902.3(NFIX):c.623-2A>T
|
rs2016886160
|
|
NM_001365902.3(NFIX):c.636C>T (p.Phe212=)
|
rs1599843617
|
|
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter)
|
rs886041422
|
|
NM_001365902.3(NFIX):c.64C>G (p.His22Asp)
|
|
|
NM_001365902.3(NFIX):c.655T>G (p.Ser219Ala)
|
|
|
NM_001365902.3(NFIX):c.666G>A (p.Trp222Ter)
|
rs886041792
|
|
NM_001365902.3(NFIX):c.671_672delinsCT (p.Val224Ala)
|
rs1555705130
|
|
NM_001365902.3(NFIX):c.697+5G>T
|
rs2145432887
|
|
NM_001365902.3(NFIX):c.727T>C (p.Phe243Leu)
|
|
|
NM_001365902.3(NFIX):c.738G>A (p.Ala246=)
|
rs780269313
|
|
NM_001365902.3(NFIX):c.772C>T (p.Gln258Ter)
|
rs1555705276
|
|
NM_001365902.3(NFIX):c.781C>A (p.Leu261Met)
|
|
|
NM_001365902.3(NFIX):c.806C>G (p.Pro269Arg)
|
|
|
NM_001365902.3(NFIX):c.818+1G>C
|
|
|
NM_001365902.3(NFIX):c.824C>T (p.Thr275Ile)
|
rs1237300588
|
|
NM_001365902.3(NFIX):c.827A>T (p.Lys276Met)
|
rs2145442347
|
|
NM_001365902.3(NFIX):c.83A>G (p.Tyr28Cys)
|
|
|
NM_001365902.3(NFIX):c.84C>A (p.Tyr28Ter)
|
rs2013220977
|
|
NM_001365902.3(NFIX):c.876C>T (p.Asp292=)
|
|
|
NM_001365902.3(NFIX):c.88T>C (p.Trp30Arg)
|
|
|
NM_001365902.3(NFIX):c.88T>G (p.Trp30Gly)
|
|
|
NM_001365902.3(NFIX):c.905del (p.Pro302fs)
|
rs886041828
|
|
NM_001365902.3(NFIX):c.90G>A (p.Trp30Ter)
|
|
|
NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter)
|
rs2145443002
|
|
NM_001365902.3(NFIX):c.94A>G (p.Asn32Asp)
|
|
|
NM_001365902.3(NFIX):c.950_954del (p.Asp317fs)
|
rs886039698
|
|
NM_001365902.3(NFIX):c.955+1G>A
|
rs398122876
|
|
NM_001365902.3(NFIX):c.955+1G>T
|
rs398122876
|
|
NM_001365902.3(NFIX):c.977C>A (p.Ser326Ter)
|
|
|
Single allele
|
rs1555696536
|
|