NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)
|
rs767402215
|
0.00001
|
NC_000004.11:g.(?_108911089)_(108911240_?)del
|
|
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NC_000004.11:g.(?_108911089)_(108955513_?)del
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|
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NC_000009.11:g.(?_97355088)_(97365840_?)del
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|
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NC_000009.11:g.(?_97380030)_(97382793_?)del
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|
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NC_000009.11:g.(?_97401403)_(97401592_?)del
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|
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NC_000009.12:g.(?_94639121)_(94639330_?)del
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|
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NC_000011.9:g.(?_66618135)_(66639640_?)del
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|
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NC_000011.9:g.(?_66636306)_(66637666_?)del
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|
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NC_000016.10:g.(?_87888109)_(87891974_?)del
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|
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NC_000016.10:g.(?_87904766)_(87904924_?)del
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|
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NC_000016.9:g.(?_87636753)_(88505740_?)del
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|
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NC_000016.9:g.(?_87938372)_(87960571_?)del
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|
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NC_000016.9:g.(?_87960334)_(87970056_?)del
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|
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NC_000016.9:g.(?_87969895)_(87970056_?)del
|
|
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NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)
|
rs2131509216
|
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NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
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|
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NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
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|
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NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
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|
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NM_000507.4(FBP1):c.343_347del (p.Val115fs)
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|
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NM_000507.4(FBP1):c.426+1G>A
|
rs1563983184
|
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NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
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|
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NM_000507.4(FBP1):c.544del (p.Val182fs)
|
rs1827757538
|
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NM_000507.4(FBP1):c.56dup (p.Met19fs)
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|
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NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
|
rs1563979243
|
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NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
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NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
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NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
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|
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NM_000507.4(FBP1):c.740dup (p.Ser248fs)
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|
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NM_000507.4(FBP1):c.779del (p.Gly260fs)
|
rs1554679825
|
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NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
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NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
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|
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NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
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|
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NM_000507.4(FBP1):c.960del (p.Ser321fs)
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|
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NM_000507.4(FBP1):c.961dup (p.Ser321fs)
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|
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NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
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NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
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NM_001040716.2(PC):c.1023-1G>A
|
rs2135917561
|
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NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
|
rs2135917452
|
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NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs)
|
rs2135917229
|
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NM_001040716.2(PC):c.1084del (p.Leu362fs)
|
rs2135917031
|
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NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)
|
rs1310884700
|
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NM_001040716.2(PC):c.1168dup (p.Asp390fs)
|
rs1946484568
|
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NM_001040716.2(PC):c.1333del (p.Arg445fs)
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|
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NM_001040716.2(PC):c.1339del (p.Ala448fs)
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|
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NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)
|
rs2135903791
|
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NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
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NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
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|
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NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
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|
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NM_001040716.2(PC):c.1465del (p.Gln489fs)
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|
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NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
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|
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NM_001040716.2(PC):c.1702_1706del (p.Thr568fs)
|
rs2135814786
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
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NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)
|
rs2135809396
|
|
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
|
|
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NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)
|
rs113994146
|
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NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
|
rs2135803326
|
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NM_001040716.2(PC):c.2253del (p.Cys752fs)
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|
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NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
|
rs2135800153
|
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NM_001040716.2(PC):c.2473+2_2473+5del
|
|
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NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
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NM_001040716.2(PC):c.2581del (p.Val861fs)
|
rs2135795582
|
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NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
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|
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NM_001040716.2(PC):c.2746dup (p.Asp916fs)
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|
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NM_001040716.2(PC):c.2874dup (p.Phe959fs)
|
|
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NM_001040716.2(PC):c.2948dup (p.Pro984fs)
|
|
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NM_001040716.2(PC):c.2953del (p.Leu985fs)
|
rs2135790424
|
|
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
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|
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NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
|
|
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NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
|
rs2135789146
|
|
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
|
|
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NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
|
|
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NM_001040716.2(PC):c.3164del (p.Gly1055fs)
|
rs2135786710
|
|
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
|
|
|
NM_001040716.2(PC):c.3190del (p.Ala1064fs)
|
rs2135786512
|
|
NM_001040716.2(PC):c.321+1G>T
|
rs2135941937
|
|
NM_001040716.2(PC):c.3288+1G>A
|
|
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NM_001040716.2(PC):c.3288+1G>T
|
rs2135785399
|
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NM_001040716.2(PC):c.3288+2T>C
|
rs2135785388
|
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NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
|
|
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NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
|
|
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NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
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NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.364del (p.Ser122fs)
|
|
|
NM_001040716.2(PC):c.366dup (p.Glu123Ter)
|
rs2135940752
|
|
NM_001040716.2(PC):c.372_375del (p.Ala125fs)
|
rs1565245427
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
|
|
|
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
|
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
NM_001040716.2(PC):c.913G>T (p.Glu305Ter)
|
rs1487446205
|
|
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)
|
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
|
rs2133777379
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.7(HADH):c.203dup (p.Ile70fs)
|
|
|
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
|
|
|
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
|
|
|
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
|
|
|
NM_005327.7(HADH):c.516del (p.Phe172fs)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.64del (p.Ala22fs)
|
|
|
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
|
|
|