NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)
|
rs121918492
|
0.00001
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)
|
rs397514621
|
0.00001
|
NM_001271938.2(MEGF8):c.1788+1G>C
|
rs1206116606
|
0.00001
|
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)
|
rs397515427
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)
|
rs1438138090
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1
|
|
|
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
|
|
|
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
|
|
|
NC_000006.12:g.(?_57186982)_(57222324_?)del
|
|
|
NC_000007.13:g.(?_19156336)_(19157207_?)del
|
|
|
NC_000007.14:g.(?_19116693)_(19117341_?)del
|
|
|
NC_000008.10:g.(?_37595441)_(38961219_?)del
|
|
|
NC_000008.10:g.(?_38314854)_(38314964_?)del
|
|
|
NC_000008.11:g.(?_38424489)_(38461126_?)del
|
|
|
NC_000019.10:g.(?_42370701)_(42370831_?)del
|
|
|
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)
|
rs121918495
|
|
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)
|
rs121918490
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)
|
rs1554927408
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)
|
rs1434545235
|
|
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.756_758delinsCTT (p.Pro253Phe)
|
rs387907372
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del)
|
rs879253718
|
|
NM_000141.5(FGFR2):c.818_820del (p.Asp273del)
|
rs121918503
|
|
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)
|
rs776587763
|
|
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet)
|
rs886037837
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.940-1G>A
|
rs879253719
|
|
NM_000141.5(FGFR2):c.940-2A>C
|
rs1057519041
|
|
NM_000141.5(FGFR2):c.940-2A>G
|
rs1057519041
|
|
NM_000141.5(FGFR2):c.940-3_946delinsACC
|
rs1589828632
|
|
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
|
rs121918504
|
|
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)
|
rs121918510
|
|
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
|
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000474.4(TWIST1):c.-18C>T
|
|
|
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)
|
rs1554442082
|
|
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
|
|
|
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
|
|
|
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
|
rs1585617611
|
|
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)
|
rs104894065
|
|
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
|
|
|
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs)
|
rs2115396985
|
|
NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
|
rs1585617402
|
|
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
|
|
|
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)
|
rs1563160116
|
|
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)
|
rs1585617240
|
|
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)
|
rs121909186
|
|
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter)
|
rs757253926
|
|
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
|
|
|
NM_000474.4(TWIST1):c.321dup (p.Thr108fs)
|
rs1788583845
|
|
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)
|
|
|
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs)
|
rs2115396782
|
|
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
|
|
|
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter)
|
rs2115396763
|
|
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)
|
rs1554442016
|
|
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)
|
rs104894057
|
|
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
|
rs1233220987
|
|
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
|
rs1585617108
|
|
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)
|
rs121909187
|
|
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)
|
rs121909188
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)
|
rs121909189
|
|
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)
|
rs1554441995
|
|
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)
|
rs1554441992
|
|
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)
|
rs1554441991
|
|
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
|
rs1585617015
|
|
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)
|
rs1554441989
|
|
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)
|
rs1563159980
|
|
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del)
|
rs2115396671
|
|
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)
|
rs1585616948
|
|
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
|
|
|
NM_000474.4(TWIST1):c.408dup (p.Thr137fs)
|
rs1554441993
|
|
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu)
|
rs1788580326
|
|
NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del)
|
rs2115396610
|
|
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
|
rs1788579980
|
|
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
|
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser)
|
rs2115396578
|
|
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe)
|
rs1563159945
|
|
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)
|
rs104894058
|
|
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs)
|
rs2115397248
|
|
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter)
|
rs2115396414
|
|
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
|
rs1585617865
|
|
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
|
|
|
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter)
|
rs104894055
|
|
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)
|
rs1563160337
|
|
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
|
|
|
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
|
|
|
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
|
|
|
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
|
|
|
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs)
|
rs1164577355
|
|
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg)
|
rs2147448693
|
|
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
|
|
|
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly)
|
rs397515428
|
|
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)
|
rs1765602287
|
|
NM_016277.5(RAB23):c.17del (p.Met6fs)
|
rs1765608519
|
|
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
|
|
|
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
|
|
|
NM_016277.5(RAB23):c.398+1G>A
|
rs2127998616
|
|
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)
|
rs2127998022
|
|
NM_016277.5(RAB23):c.426del (p.Arg142fs)
|
|
|
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
|
|
|
NM_016277.5(RAB23):c.467del (p.Leu156fs)
|
|
|
NM_016277.5(RAB23):c.481G>C (p.Val161Leu)
|
rs1060505026
|
|
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)
|
rs2127997677
|
|
NM_016277.5(RAB23):c.5del (p.Leu2fs)
|
rs1593223920
|
|
NM_016277.5(RAB23):c.82del (p.Arg28fs)
|
rs2128004184
|
|
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)
|
rs1593223800
|
|
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)
|
rs727505371
|
|
NM_023110.3(FGFR1):c.111del (p.Val38fs)
|
|
|
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg)
|
rs121909634
|
|
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs)
|
rs2150705198
|
|
NM_023110.3(FGFR1):c.1430+1G>A
|
rs1554552774
|
|
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
|
|
|
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg)
|
rs869025670
|
|
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)
|
rs1817280576
|
|
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
|
|
|
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
|
|
|
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)
|
rs121909639
|
|
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)
|
rs121909628
|
|
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
|
|
|
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
|
|
|
NM_023110.3(FGFR1):c.1946del (p.His649fs)
|
|
|
NM_023110.3(FGFR1):c.1948del (p.His650fs)
|
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)
|
rs776264072
|
|
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
|
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
|
|
|
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
|
|
|
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
|
|
|
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
|
|
|
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)
|
rs121909645
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
|
|
|
NM_023110.3(FGFR1):c.817G>A (p.Val273Met)
|
rs1131691929
|
|
NM_023110.3(FGFR1):c.979_983del (p.His327fs)
|
rs2150757205
|
|