|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
|
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)
|
rs121918293
|
0.00006
|
|
NM_152906.7(TANGO2):c.605+1G>A
|
rs372949028
|
0.00005
|
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
|
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)
|
rs370270828
|
0.00003
|
|
NM_001519.4(BRF1):c.776C>T (p.Thr259Met)
|
rs373957300
|
0.00003
|
|
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)
|
rs140470472
|
0.00002
|
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
|
NM_000635.4(RFX2):c.1421T>C (p.Ile474Thr)
|
rs769861701
|
0.00001
|
|
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)
|
rs606231416
|
0.00001
|
|
NM_001519.4(BRF1):c.875C>A (p.Pro292His)
|
rs606231450
|
0.00001
|
|
NM_005562.3(LAMC2):c.1711C>T (p.Arg571Ter)
|
rs761388039
|
0.00001
|
|
NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)
|
|
|
|
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)
|
rs1553277738
|
|
|
NM_001130144.3(LTBP3):c.132del (p.Pro45fs)
|
rs1286042594
|
|
|
NM_001130144.3(LTBP3):c.2216del (p.Gly739fs)
|
rs752375653
|
|
|
NM_001130144.3(LTBP3):c.3629-1G>T
|
|
|
|
NM_001353214.3(DYM):c.95dup (p.Trp33fs)
|
rs1600192503
|
|
|
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)
|
|
|
|
NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)
|
rs2146315211
|
|
|
NM_002437.5(MPV17):c.83G>T (p.Gly28Val)
|
|
|
|
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
|
|
|
|
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
|
|
|
|
NM_005499.3(UBA2):c.1118del (p.Arg373fs)
|
|
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
|
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
|
|
|
|
NM_016139.4(CHCHD2):c.418G>A (p.Val140Met)
|
rs1562887957
|
|
|
NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)
|
rs763487720
|
|
|
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)
|
|
|
|
NM_017755.6(NSUN2):c.97-1G>C
|
|
|
|
NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)
|
rs1574047454
|
|
|
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)
|
rs773885029
|
|
|
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs)
|
rs1558814135
|
|
|
NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)
|
|
|
|
NM_032188.3(KAT8):c.649A>C (p.Met217Leu)
|
|
|
|
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter)
|
rs2128200575
|
|
|
NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter)
|
rs1595312054
|
|
|
NM_173081.5(ARMC3):c.916+1G>A
|
rs767509621
|
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
rs752192677
|
|
|
NM_198239.2(CCN6):c.692del (p.Val231fs)
|
rs1562599153
|
|