NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)
|
rs554834063
|
0.00003
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)
|
rs962982192
|
0.00001
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
0.00001
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His)
|
rs1563888782
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter)
|
rs1566197747
|
|
NM_000321.3(RB1):c.1332+4A>G
|
rs2138136847
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)
|
rs587778832
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1706del (p.Leu569fs)
|
rs1131690842
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1893del (p.Ala632fs)
|
|
|
NM_000321.3(RB1):c.1960+1316_2107-767del
|
|
|
NM_000321.3(RB1):c.2106+2T>C
|
rs1566235515
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2403del (p.Asn803fs)
|
|
|
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)
|
rs1566240909
|
|
NM_000321.3(RB1):c.264+5G>A
|
rs1131690853
|
|
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
|
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.381-1G>A
|
rs1566186836
|
|
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
|
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.722del (p.Thr241fs)
|
|
|
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
|
|
|
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
|
|
|
NM_000321.3(RB1):c.92dup (p.Asp32fs)
|
rs1566174147
|
|
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs)
|
rs1375421660
|
|