NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn)
|
rs773091065
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met)
|
rs747658866
|
0.00001
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
|
rs1585617015
|
|
NM_001031710.3(KLHL7):c.618+1G>A
|
rs1554289078
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)
|
rs1601633708
|
|
NM_001429.4(EP300):c.4452+5G>T
|
rs1555911334
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)
|
rs1596853925
|
|
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)
|
rs2052611239
|
|
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
|
rs1555473122
|
|
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)
|
rs1596787459
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del)
|
rs1590571077
|
|
NM_005450.6(NOG):c.554C>G (p.Ser185Cys)
|
rs2145567535
|
|
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)
|
rs1554757237
|
|
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter)
|
rs1554612093
|
|
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)
|
rs1590414630
|
|
NM_017988.6(SCYL2):c.176dup (p.Glu60fs)
|
rs2135832798
|
|
NM_017988.6(SCYL2):c.97del (p.Asp33fs)
|
rs2135832560
|
|
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)
|
rs886041838
|
|
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)
|
rs1555697020
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
|
|
|
NM_033419.5(PGAP3):c.280del (p.Trp94fs)
|
rs1555610292
|
|
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter)
|
rs2057593272
|
|
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)
|
rs869312814
|
|
NM_133433.4(NIPBL):c.1320del (p.Asn440fs)
|
rs1580373035
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs)
|
rs1554020579
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_182895.5(SCARF2):c.3G>A (p.Met1Ile)
|
|
|
Single allele
|
|
|