NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_001384474.1(LOXHD1):c.4530+107A>G
|
rs1450425
|
0.66249
|
NM_004285.4(H6PD):c.745+88T>A
|
rs12032814
|
0.23253
|
NM_198576.4(AGRN):c.3516+10G>C
|
rs76264143
|
0.05034
|
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=)
|
rs55812846
|
0.00492
|
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu)
|
rs150140314
|
0.00108
|
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met)
|
rs148360332
|
0.00106
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)
|
rs745990956
|
0.00003
|
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln)
|
rs781923569
|
0.00003
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln)
|
rs767325003
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)
|
rs786205482
|
|
NM_000397.4(CYBB):c.34A>C (p.Ile12Leu)
|
rs797044560
|
|
NM_000542.5(SFTPB):c.856+16del
|
rs786205634
|
|
NM_001039348.3(EFEMP1):c.*6del
|
rs200536754
|
|
NM_001256789.3(CACNA1F):c.3085T>C (p.Cys1029Arg)
|
rs797044562
|
|
NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr)
|
rs786205540
|
|
NM_002016.2(FLG):c.11573G>A (p.Arg3858His)
|
rs74129447
|
|
NM_002609.4(PDGFRB):c.683G>A (p.Gly228Asp)
|
rs374239531
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg)
|
rs750955319
|
|
NM_017990.5(PDPR):c.1360G>T (p.Gly454Cys)
|
rs202246074
|
|
NM_020937.4(FANCM):c.1397-15del
|
rs875989813
|
|
NM_024301.5(FKRP):c.33G>C (p.Ala11=)
|
rs786205520
|
|
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)
|
rs755877218
|
|
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)
|
rs112039851
|
|