NC_000019.10:g.(?_13075535)_(13078735_?)del
|
|
|
NC_000019.10:g.(?_13087969)_(13094669_?)del
|
|
|
NC_000019.9:g.(?_13186329)_(13189569_?)del
|
|
|
NC_000019.9:g.(?_13186329)_(13189569_?)dup
|
|
|
NM_001365902.3(NFIX):c.1008_1012del (p.Ser337fs)
|
rs398122871
|
|
NM_001365902.3(NFIX):c.1011_1012del (p.Gln338fs)
|
rs398122869
|
|
NM_001365902.3(NFIX):c.1037dup (p.Thr347fs)
|
rs398122870
|
|
NM_001365902.3(NFIX):c.1049dup (p.Leu351fs)
|
rs398122872
|
|
NM_001365902.3(NFIX):c.1059del (p.Ala355fs)
|
|
|
NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs)
|
rs2145459429
|
|
NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs)
|
rs797045737
|
|
NM_001365902.3(NFIX):c.1087dup (p.Arg363fs)
|
rs886041647
|
|
NM_001365902.3(NFIX):c.1090dup (p.Ala364fs)
|
|
|
NM_001365902.3(NFIX):c.1131_1137dup (p.Ser380fs)
|
rs1599862139
|
|
NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)
|
|
|
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)
|
rs760493118
|
|
NM_001365902.3(NFIX):c.1243del (p.Ala415fs)
|
rs398122873
|
|
NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter)
|
rs1568268397
|
|
NM_001365902.3(NFIX):c.1456del (p.Arg486fs)
|
rs2018058219
|
|
NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs)
|
rs2145191473
|
|
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)
|
rs1555696499
|
|
NM_001365902.3(NFIX):c.163del (p.Ala55fs)
|
rs2145191618
|
|
NM_001365902.3(NFIX):c.220del (p.Arg74fs)
|
rs2013235786
|
|
NM_001365902.3(NFIX):c.226_242del (p.Leu76fs)
|
rs2145191979
|
|
NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter)
|
rs1599738036
|
|
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
|
|
|
NM_001365902.3(NFIX):c.303dup (p.Cys102fs)
|
rs886041304
|
|
NM_001365902.3(NFIX):c.327_340del (p.Gln110fs)
|
rs1599738349
|
|
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)
|
rs2145192570
|
|
NM_001365902.3(NFIX):c.358del (p.Leu120fs)
|
rs1555696611
|
|
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)
|
rs2145192745
|
|
NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu)
|
rs1555696625
|
|
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)
|
rs1599737421
|
|
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
|
|
|
NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)
|
|
|
NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)
|
|
|
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter)
|
rs387907253
|
|
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter)
|
rs2145430763
|
|
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)
|
rs2013218777
|
|
NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)
|
|
|
NM_001365902.3(NFIX):c.697+2T>G
|
rs2145432885
|
|
NM_001365902.3(NFIX):c.77del (p.Phe26fs)
|
rs2013220573
|
|
NM_001365902.3(NFIX):c.799_812del (p.Thr267fs)
|
rs1599844887
|
|
NM_001365902.3(NFIX):c.818+561_956-804del
|
|
|
NM_001365902.3(NFIX):c.819-484_1079-700del
|
|
|
NM_001365902.3(NFIX):c.927dup (p.Ser310fs)
|
rs1555705733
|
|
NM_001365902.3(NFIX):c.933_943del (p.Trp312fs)
|
rs1599848690
|
|
NM_001365902.3(NFIX):c.955+1G>A
|
rs398122876
|
|
NM_001365902.3(NFIX):c.955+1G>T
|
rs398122876
|
|
NM_001365902.3(NFIX):c.959dup (p.Ala321fs)
|
rs398122875
|
|
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs)
|
rs797045738
|
|
NM_001365902.3(NFIX):c.994dup (p.Cys332fs)
|
rs398122874
|
|