NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
0.00007
|
NM_020779.4(WDR35):c.2415-2A>G
|
rs143550695
|
0.00005
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_004260.4(RECQL4):c.1259-1G>A
|
rs372380880
|
0.00003
|
NM_004260.4(RECQL4):c.3393+2T>G
|
rs557284122
|
0.00002
|
NM_004260.4(RECQL4):c.3394-1G>C
|
rs752301125
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_004260.4(RECQL4):c.1132-1G>A
|
rs751503394
|
0.00001
|
NM_004260.4(RECQL4):c.1704+2T>C
|
rs772896860
|
0.00001
|
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro)
|
rs977450143
|
0.00001
|
NM_004260.4(RECQL4):c.2463+1G>A
|
rs1295396384
|
0.00001
|
NM_004260.4(RECQL4):c.2755+1G>A
|
rs373130543
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004260.4(RECQL4):c.3236+1G>A
|
rs1327061374
|
0.00001
|
NC_000008.10:g.(?_145738591)_(145742902_?)dup
|
|
|
NC_000008.10:g.(?_145739619)_(145739814_?)del
|
|
|
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)
|
rs1085307555
|
|
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)
|
rs1554442019
|
|
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser)
|
rs2115396651
|
|
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)
|
rs1788580776
|
|
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)
|
rs1554441987
|
|
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile)
|
rs1788580077
|
|
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
|
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu)
|
rs2115396574
|
|
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu)
|
rs2115396572
|
|
NM_001006657.2(WDR35):c.1195-2A>T
|
|
|
NM_001271938.2(MEGF8):c.1784_1788+3del
|
|
|
NM_001271938.2(MEGF8):c.3761+2T>C
|
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)
|
rs2100790073
|
|
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)
|
rs1557806222
|
|
NM_004260.4(RECQL4):c.1131+1G>A
|
rs1050860620
|
|
NM_004260.4(RECQL4):c.1131+2_1131+5del
|
|
|
NM_004260.4(RECQL4):c.1132-2A>G
|
|
|
NM_004260.4(RECQL4):c.118+2T>C
|
rs1586834813
|
|
NM_004260.4(RECQL4):c.119-2A>C
|
rs1815370807
|
|
NM_004260.4(RECQL4):c.119-2A>G
|
|
|
NM_004260.4(RECQL4):c.1258+1G>A
|
rs2130711906
|
|
NM_004260.4(RECQL4):c.1390+1G>A
|
|
|
NM_004260.4(RECQL4):c.1483+1G>A
|
rs1827970204
|
|
NM_004260.4(RECQL4):c.1614_1620+14del
|
|
|
NM_004260.4(RECQL4):c.1620+1G>A
|
rs2130702516
|
|
NM_004260.4(RECQL4):c.1621-2A>G
|
|
|
NM_004260.4(RECQL4):c.1704+1G>A
|
rs760363252
|
|
NM_004260.4(RECQL4):c.1704+2T>G
|
|
|
NM_004260.4(RECQL4):c.1705-1G>A
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1G>C
|
rs569948031
|
|
NM_004260.4(RECQL4):c.1705-1del
|
|
|
NM_004260.4(RECQL4):c.1879-1G>A
|
|
|
NM_004260.4(RECQL4):c.2058+2T>G
|
rs2130689994
|
|
NM_004260.4(RECQL4):c.214-2A>G
|
|
|
NM_004260.4(RECQL4):c.2200+1G>A
|
|
|
NM_004260.4(RECQL4):c.2200+1G>T
|
|
|
NM_004260.4(RECQL4):c.2200+2T>C
|
rs768749064
|
|
NM_004260.4(RECQL4):c.2201-1G>A
|
|
|
NM_004260.4(RECQL4):c.2463+2T>C
|
rs2130676059
|
|
NM_004260.4(RECQL4):c.2756-1G>A
|
rs1564791894
|
|
NM_004260.4(RECQL4):c.2866_2885+19del
|
rs1554897134
|
|
NM_004260.4(RECQL4):c.2878_2885+14del
|
|
|
NM_004260.4(RECQL4):c.2885+1G>T
|
rs1176959485
|
|
NM_004260.4(RECQL4):c.3055+1G>A
|
rs368585080
|
|
NM_004260.4(RECQL4):c.3055+1del
|
rs1586794620
|
|
NM_004260.4(RECQL4):c.3055+2T>C
|
rs2130661643
|
|
NM_004260.4(RECQL4):c.3056-1G>A
|
|
|
NM_004260.4(RECQL4):c.3056-1G>T
|
|
|
NM_004260.4(RECQL4):c.3056-2A>G
|
|
|
NM_004260.4(RECQL4):c.3056-4_3069del
|
|
|
NM_004260.4(RECQL4):c.3236+1G>C
|
|
|
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile)
|
rs2130657545
|
|
NM_004260.4(RECQL4):c.3237-1G>A
|
rs1586791945
|
|
NM_004260.4(RECQL4):c.3237-2A>G
|
|
|
NM_004260.4(RECQL4):c.3393+1G>A
|
rs1586790519
|
|
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
|
|
|
NM_004260.4(RECQL4):c.3394-1G>A
|
rs752301125
|
|
NM_004260.4(RECQL4):c.355-1G>A
|
|
|
NM_004260.4(RECQL4):c.355-1G>T
|
rs1815108719
|
|
NM_004260.4(RECQL4):c.84+1G>A
|
rs1815425378
|
|
NM_004260.4(RECQL4):c.84+2T>G
|
|
|
NM_004260.4(RECQL4):c.85-2A>G
|
rs1227874093
|
|
NM_006494.4(ERF):c.110T>C (p.Leu37Pro)
|
rs2036426238
|
|
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs)
|
rs2146948133
|
|
NM_016277.5(RAB23):c.156-1G>C
|
rs373724159
|
|
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
|
|
|
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG
|
rs2127998544
|
|
NM_016277.5(RAB23):c.481+1G>A
|
|
|
NM_016277.5(RAB23):c.482-1_486del
|
rs2127997697
|
|
NM_020779.4(WDR35):c.1255+1G>C
|
rs371669862
|
|
NM_020779.4(WDR35):c.1525-2A>T
|
|
|
NM_020779.4(WDR35):c.1846-30_1848del
|
rs1553317813
|
|
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)
|
rs397515536
|
|
NM_020779.4(WDR35):c.570+2T>G
|
|
|
NM_023110.3(FGFR1):c.1081+1G>A
|
|
|
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
|
|
|
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly)
|
rs1817052708
|
|
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
|
|
|
NM_023110.3(FGFR1):c.1855-2A>G
|
|
|
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
|
|
|
NM_023110.3(FGFR1):c.2049-1G>A
|
|
|
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
|
|
|
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)
|
rs1554570706
|
|
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg)
|
rs1260404537
|
|
NM_023110.3(FGFR1):c.448+1G>A
|
rs376416531
|
|
NM_023110.3(FGFR1):c.448+1G>C
|
rs376416531
|
|
NM_023110.3(FGFR1):c.449-6G>A
|
|
|
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
|
|
|
NM_023110.3(FGFR1):c.622-2A>G
|
rs2150866757
|
|
NM_023110.3(FGFR1):c.745+1G>T
|
|
|
NM_052989.3(IFT122):c.349+1G>A
|
rs1559869525
|
|
NM_052989.3(IFT122):c.416+2T>G
|
rs2108101855
|
|