NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)
|
rs4614723
|
0.98884
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_003282.4(TNNI2):c.60T>C (p.Ser20=)
|
rs907610
|
0.82025
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=)
|
rs4804151
|
0.65403
|
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=)
|
rs4804152
|
0.63966
|
NM_004247.4(EFTUD2):c.426+8G>A
|
rs2289677
|
0.62345
|
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly)
|
rs874101
|
0.60739
|
NM_020812.4(DOCK6):c.377+12T>A
|
rs8113582
|
0.59788
|
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=)
|
rs2304155
|
0.55134
|
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)
|
rs12978266
|
0.53878
|
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=)
|
rs2304154
|
0.50722
|
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)
|
rs1965024
|
0.50381
|
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=)
|
rs8409
|
0.49265
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_020812.4(DOCK6):c.5361+4C>T
|
rs3745682
|
0.36094
|
NM_020812.4(DOCK6):c.3894+19G>A
|
rs4804150
|
0.35804
|
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=)
|
rs3810307
|
0.29532
|
NM_004247.4(EFTUD2):c.994+6C>T
|
rs11654183
|
0.26275
|
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)
|
rs2289674
|
0.20662
|
NM_006757.4(TNNT3):c.762C>T (p.Gly254=)
|
rs4727
|
0.12344
|
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)
|
rs117328686
|
0.02223
|
NM_020812.4(DOCK6):c.2956-5C>T
|
rs3810309
|
0.01873
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_001018115.3(FANCD2):c.1278+3_1278+5del
|
rs375350046
|
|
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=)
|
rs12330369
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly)
|
rs874100
|
|