NM_001451.3(FOXF1):c.*309_*310insT
|
rs11392376
|
0.46626
|
NM_001451.3(FOXF1):c.645C>T (p.His215=)
|
rs61740819
|
0.02277
|
NM_001451.3(FOXF1):c.873C>T (p.Ser291=)
|
rs61753347
|
0.01583
|
NM_014391.3(ANKRD1):c.346-15_346-14insA
|
rs60700562
|
0.01084
|
NM_014391.3(ANKRD1):c.-17A>G
|
rs79341122
|
0.00753
|
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=)
|
rs112197095
|
0.00477
|
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn)
|
rs200676463
|
0.00467
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
NM_001719.3(BMP7):c.962A>G (p.Asn321Ser)
|
rs61733438
|
0.00277
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_014391.3(ANKRD1):c.208-16C>T
|
rs79793575
|
0.00161
|
NM_001451.3(FOXF1):c.969C>A (p.Ala323=)
|
rs144309953
|
0.00081
|
NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr)
|
rs8061302
|
0.00036
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
NM_001451.3(FOXF1):c.579C>A (p.Gly193=)
|
rs758098808
|
0.00013
|
NM_001127392.3(MYRF):c.2201C>T (p.Ala734Val)
|
rs399122
|
0.00012
|
NM_001127392.3(MYRF):c.1063C>T (p.Pro355Ser)
|
rs200349251
|
0.00011
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
NM_001451.3(FOXF1):c.636G>C (p.Ser212=)
|
rs776649998
|
0.00001
|
NM_014391.3(ANKRD1):c.710A>G (p.His237Arg)
|
rs145326465
|
0.00001
|
46;XY;t(9;16)(p24;q22)dn
|
|
|
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
|
|
|
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
|
|
|
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
|
|
|
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
|
|
|
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
|
|
|
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
|
|
|
GRCh38/hg38 17q12(chr17:36138501-37924067)
|
|
|
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
|
|
|
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
|
|
|
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
|
|
|
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
|
|
|
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)
|
|
|
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
|
|
|
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
|
|
|
GRCh38/hg38 3q24(chr3:143944349-143982303)
|
|
|
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
|
|
|
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
|
|
|
GRCh38/hg38 9p24.3(chr9:46587-273160)
|
|
|
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
|
|
|
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
|
|
|
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
|
|
|
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
|
|
|
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
|
|
|
GRCh38/hg38 Xq28(chrX:153151471-153250484)
|
|
|
NC_000016.9:g.86137629_86287477del
|
|
|
NC_000016.9:g.86144118_86289385del
|
|
|
NC_000016.9:g.86243180_87703229del
|
|
|
NM_001451.3(FOXF1):c.*1175_*1176del
|
rs397854726
|
|
NM_001451.3(FOXF1):c.*1176del
|
rs397854726
|
|
NM_001451.3(FOXF1):c.*123dup
|
rs886052379
|
|
NM_001451.3(FOXF1):c.*1298dup
|
rs886052386
|
|
NM_001451.3(FOXF1):c.*310_*311insT
|
rs67178865
|
|
NM_001451.3(FOXF1):c.*471_*472dup
|
rs56130003
|
|
NM_001451.3(FOXF1):c.*472dup
|
rs56130003
|
|
NM_001451.3(FOXF1):c.-2C>T
|
rs1969543882
|
|
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs)
|
rs1597292524
|
|
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs)
|
rs1969592103
|
|
NM_001451.3(FOXF1):c.1070A>T (p.His357Leu)
|
|
|
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)
|
|
|
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg)
|
rs121909337
|
|
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser)
|
rs1597292620
|
|
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)
|
rs1567511932
|
|
NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala)
|
rs1597291206
|
|
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)
|
rs1597291206
|
|
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val)
|
rs1969548621
|
|
NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)
|
|
|
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val)
|
rs2143184507
|
|
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)
|
|
|
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter)
|
rs1597291235
|
|
NM_001451.3(FOXF1):c.21del (p.Lys7fs)
|
|
|
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn)
|
rs1597291255
|
|
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)
|
rs121909336
|
|
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs)
|
rs1969549826
|
|
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu)
|
rs1969550135
|
|
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)
|
|
|
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)
|
rs1969550367
|
|
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter)
|
rs2143184846
|
|
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)
|
rs1057518868
|
|
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)
|
rs1969550532
|
|
NM_001451.3(FOXF1):c.294C>A (p.His98Gln)
|
rs1597291300
|
|
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu)
|
rs1969550671
|
|
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)
|
rs1597291318
|
|
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)
|
rs574179816
|
|
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)
|
rs1597291380
|
|
NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)
|
|
|
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter)
|
rs1481006723
|
|
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs)
|
rs1969545531
|
|
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)
|
|
|
NM_001451.3(FOXF1):c.60_62del (p.Gly23del)
|
rs757668134
|
|
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)
|
rs1393788111
|
|
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)
|
rs1597291554
|
|
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)
|
|
|
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro)
|
rs1969561243
|
|
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)
|
|
|
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
|
|
|
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs)
|
rs1597291710
|
|
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs)
|
rs2143186824
|
|
NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer)
|
rs2143186831
|
|
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter)
|
rs1597291719
|
|
NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer)
|
rs1597291722
|
|
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
|
|
|
NM_001451.3(FOXF1):c.889del (p.Ala297fs)
|
rs2143187004
|
|
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs)
|
rs1597291767
|
|
NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter)
|
rs376766270
|
|
NM_001451.3(FOXF1):c.927G>T (p.Leu309=)
|
rs375348663
|
|
NM_001451.3(FOXF1):c.950del (p.Asn317fs)
|
rs1969566259
|
|
NM_001451.3(FOXF1):c.965del (p.Pro322fs)
|
rs1969566429
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-16_346-15insATA
|
rs60923931
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-19_346-14del
|
rs58762441
|
|
NM_014391.3(ANKRD1):c.346-19_346-18del
|
rs398014415
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014391.3(ANKRD1):c.346-35_346-12del
|
rs751458325
|
|
Single allele
|
|
|