|
NC_000006.12:g.50818858G>A
|
rs2272903
|
0.17374
|
|
NC_000006.12:g.50847620G>T
|
rs67092917
|
0.15514
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
|
rs142594314
|
0.00128
|
|
NM_003221.4(TFAP2B):c.*912_*916del
|
rs886061577
|
0.00083
|
|
NM_001136239.4(PRDM6):c.1031C>T (p.Ser344Leu)
|
rs1333586171
|
0.00002
|
|
NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg)
|
rs879253872
|
0.00001
|
|
NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly)
|
rs1470510188
|
0.00001
|
|
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)
|
rs13216733
|
0.00001
|
|
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)
|
rs1232197674
|
0.00001
|
|
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
|
|
|
|
46;XX;ins(5;6)(p13;p24p25)dn
|
|
|
|
46;XX;inv(7)(q21.2q34)
|
|
|
|
46;XY;inv(6)(p22q13)dn
|
|
|
|
46;XY;t(2;14)(p22;q24.3)dn
|
|
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
|
NM_001110556.2(FLNA):c.7671del (p.Ser2558fs)
|
rs2148100379
|
|
|
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln)
|
rs879255278
|
|
|
NM_001136239.4(PRDM6):c.1697_1699dup (p.Phe566_Thr567insIle)
|
|
|
|
NM_001136239.4(PRDM6):c.233C>G (p.Ser78Cys)
|
|
|
|
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser)
|
rs879255279
|
|
|
NM_001200.4(BMP2):c.721A>T (p.Lys241Ter)
|
|
|
|
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter)
|
rs1567744830
|
|
|
NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn)
|
rs748644598
|
|
|
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
|
|
|
|
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
|
|
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
|
NM_003221.4(TFAP2B):c.*135_*136del
|
rs140657288
|
|
|
NM_003221.4(TFAP2B):c.*1427del
|
rs886061580
|
|
|
NM_003221.4(TFAP2B):c.*15AAG[1]
|
rs140328017
|
|
|
NM_003221.4(TFAP2B):c.*1644del
|
rs886061581
|
|
|
NM_003221.4(TFAP2B):c.*1938dup
|
rs568007912
|
|
|
NM_003221.4(TFAP2B):c.*4213GT[1]
|
rs373428030
|
|
|
NM_003221.4(TFAP2B):c.*910_*911del
|
rs35732696
|
|
|
NM_003221.4(TFAP2B):c.*910_*911insC
|
rs1554165384
|
|
|
NM_003221.4(TFAP2B):c.*911_*915del
|
rs770818655
|
|
|
NM_003221.4(TFAP2B):c.*911del
|
rs35732696
|
|
|
NM_003221.4(TFAP2B):c.*912CA[5]
|
rs35649205
|
|
|
NM_003221.4(TFAP2B):c.*912CA[6]
|
rs35649205
|
|
|
NM_003221.4(TFAP2B):c.*912CA[8]
|
rs35649205
|
|
|
NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His)
|
rs1762765738
|
|
|
NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys)
|
|
|
|
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)
|
rs80338910
|
|
|
NM_003221.4(TFAP2B):c.265G>A (p.Val89Ile)
|
|
|
|
NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs)
|
rs879253871
|
|
|
NM_003221.4(TFAP2B):c.540+7ACAA[3]
|
|
|
|
NM_003221.4(TFAP2B):c.540+7ACAA[5]
|
rs368226832
|
|
|
NM_003221.4(TFAP2B):c.540+7ACAA[7]
|
rs368226832
|
|
|
NM_003221.4(TFAP2B):c.541-2A>T
|
rs879253870
|
|
|
NM_003221.4(TFAP2B):c.541-3_541-2del
|
|
|
|
NM_003221.4(TFAP2B):c.601+5G>A
|
rs80338911
|
|
|
NM_003221.4(TFAP2B):c.650del (p.Gly217fs)
|
rs1561964103
|
|
|
NM_003221.4(TFAP2B):c.66C>G (p.Tyr22Ter)
|
|
|
|
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser)
|
rs80338912
|
|
|
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys)
|
rs80338912
|
|
|
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His)
|
rs1325125531
|
|
|
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala)
|
rs2817394
|
|
|
NM_003221.4(TFAP2B):c.796T>C (p.Ser266Pro)
|
|
|
|
NM_003221.4(TFAP2B):c.805G>A (p.Gly269Ser)
|
|
|
|
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)
|
|
|
|
NM_003221.4(TFAP2B):c.822-1G>C
|
rs80338916
|
|
|
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)
|
rs80338914
|
|
|
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)
|
rs1057518947
|
|
|
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)
|
rs80338915
|
|
|
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)
|
rs80338917
|
|
|
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)
|
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|