NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)
|
rs553950608
|
0.00044
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_015909.4(NBAS):c.2423+404G>C
|
rs1019313682
|
0.00004
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)
|
rs771379232
|
0.00003
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)
|
rs753635972
|
0.00002
|
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)
|
rs1401839892
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)
|
rs1553154130
|
|
NM_001161.5(NUDT2):c.186del (p.Ala63fs)
|
rs529087882
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)
|
rs1421405659
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)
|
rs2043431490
|
|
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)
|
rs587782995
|
|
NM_006003.3(UQCRFS1):c.215-1G>C
|
rs1568344751
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)
|
rs1566785444
|
|
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter)
|
rs1448259271
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)
|
rs387906800
|
|
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)
|
rs866294686
|
|
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)
|
rs1569151872
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_177972.3(TUB):c.1215+1G>A
|
rs1589996458
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
Single allele
|
|
|