NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
|
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
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NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)
|
rs121918507
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)
|
rs1057519047
|
|
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
|
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)
|
rs121918498
|
|
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu)
|
rs1057519037
|
|
NM_000141.5:c.940-19_940-18insAlu
|
|
|
NM_000474.4(TWIST1):c.171del (p.Gly59fs)
|
rs1788590614
|
|
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.352C>A (p.Arg118Ser)
|
rs1554442015
|
|
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly)
|
rs1554442015
|
|
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)
|
rs2115396737
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
|
rs1585616948
|
|
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_000474.4(TWIST1):c.475C>G (p.Leu159Val)
|
rs1563159945
|
|
NM_000474.4(TWIST1):c.476T>A (p.Leu159His)
|
rs1585616825
|
|
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
|
|
|
NM_001271938.2(MEGF8):c.1784_1788+3del
|
|
|
NM_001271938.2(MEGF8):c.3351-2A>C
|
rs2039397653
|
|
NM_001271938.2(MEGF8):c.3761+2T>C
|
|
|
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_001271938.2(MEGF8):c.7005+1G>T
|
rs1224632697
|
|
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
|
|
|
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys)
|
rs2039109372
|
|
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)
|
rs775004286
|
|
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_016277.5(RAB23):c.559del (p.Ser187fs)
|
rs2127997645
|
|
NM_023110.3(FGFR1):c.1081+1G>A
|
|
|
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
|
|
|
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)
|
rs121909641
|
|
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.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
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_023110.3(FGFR1):c.821A>G (p.Glu274Gly)
|
rs727505369
|
|