NM_000733.3(CD3E):c.-112G>A
|
rs2231440
|
0.25571
|
NM_000733.4(CD3E):c.54C>T (p.Gly18=)
|
rs1126924
|
0.25335
|
NM_000733.4(CD3E):c.*55C>A
|
rs2231450
|
0.05808
|
NM_000733.4(CD3E):c.*48C>A
|
rs2231449
|
0.02215
|
NM_000733.4(CD3E):c.104-17C>T
|
rs2231443
|
0.00897
|
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
|
rs2231447
|
0.00816
|
NM_000733.4(CD3E):c.323C>T (p.Ala108Val)
|
rs35299792
|
0.00427
|
NM_000733.4(CD3E):c.*196C>G
|
rs116370847
|
0.00330
|
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser)
|
rs143949187
|
0.00295
|
NM_000733.4(CD3E):c.498G>A (p.Ala166=)
|
rs78373007
|
0.00262
|
NM_000733.4(CD3E):c.216T>C (p.Asp72=)
|
rs2231444
|
0.00121
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
NM_000733.4(CD3E):c.85+16C>T
|
rs200489032
|
0.00068
|
NM_000733.4(CD3E):c.567+6G>A
|
rs185185591
|
0.00061
|
NM_000733.4(CD3E):c.408G>A (p.Val136=)
|
rs143868906
|
0.00059
|
NM_000733.4(CD3E):c.*522C>G
|
rs200563411
|
0.00047
|
NM_000733.4(CD3E):c.49+3G>A
|
rs202200315
|
0.00041
|
NM_000733.4(CD3E):c.88G>A (p.Gly30Ser)
|
rs773135734
|
0.00019
|
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr)
|
rs200987721
|
0.00016
|
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser)
|
rs200087808
|
0.00012
|
NM_000733.4(CD3E):c.387G>A (p.Ser129=)
|
rs200193595
|
0.00012
|
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser)
|
rs141553540
|
0.00011
|
NM_000733.4(CD3E):c.353-18C>T
|
rs201572053
|
0.00010
|
NM_000733.3(CD3E):c.*639T>C
|
rs1415688813
|
0.00009
|
NM_000733.4(CD3E):c.*311C>T
|
rs202056225
|
0.00009
|
NM_000733.4(CD3E):c.462T>C (p.Asn154=)
|
rs372144734
|
0.00009
|
NM_000733.3(CD3E):c.-166G>A
|
rs886047735
|
0.00008
|
NM_000733.4(CD3E):c.27T>G (p.Val9=)
|
rs200915775
|
0.00008
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
0.00007
|
NM_000733.4(CD3E):c.448T>C (p.Tyr150His)
|
rs146881885
|
0.00007
|
NM_000733.4(CD3E):c.441G>A (p.Leu147=)
|
rs528492194
|
0.00006
|
NM_000733.4(CD3E):c.500G>T (p.Gly167Val)
|
rs745493004
|
0.00006
|
NM_000733.4(CD3E):c.568-10T>G
|
rs773328619
|
0.00006
|
NM_000733.4(CD3E):c.*559G>C
|
rs909859167
|
0.00004
|
NM_000733.4(CD3E):c.-73T>C
|
rs867899567
|
0.00004
|
NM_000733.4(CD3E):c.230G>A (p.Ser77Asn)
|
rs202007244
|
0.00004
|
NM_000733.4(CD3E):c.520+5G>A
|
rs765464852
|
0.00004
|
NM_000733.4(CD3E):c.567+10G>T
|
rs920180688
|
0.00004
|
NM_000733.4(CD3E):c.575G>A (p.Arg192Gln)
|
rs202052957
|
0.00004
|
NM_000733.4(CD3E):c.71-15C>T
|
rs749389422
|
0.00004
|
NM_000733.4(CD3E):c.*247C>T
|
rs200610341
|
0.00003
|
NM_000733.4(CD3E):c.255G>T (p.Lys85Asn)
|
rs201263095
|
0.00003
|
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr)
|
rs200258299
|
0.00003
|
NM_000733.4(CD3E):c.499G>A (p.Gly167Ser)
|
rs368489854
|
0.00003
|
NM_000733.4(CD3E):c.70+7T>C
|
rs1344530532
|
0.00003
|
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp)
|
rs201867379
|
0.00003
|
NM_000733.4(CD3E):c.116C>A (p.Ser39Tyr)
|
rs369130631
|
0.00002
|
NM_000733.4(CD3E):c.617G>A (p.Arg206His)
|
rs200083794
|
0.00002
|
NM_000733.4(CD3E):c.82A>C (p.Met28Leu)
|
rs759815699
|
0.00002
|
NM_000733.4(CD3E):c.85+17T>C
|
rs201478021
|
0.00002
|
NM_000733.4(CD3E):c.104-16C>T
|
rs747320277
|
0.00001
|
NM_000733.4(CD3E):c.297C>T (p.Tyr99=)
|
rs143203193
|
0.00001
|
NM_000733.4(CD3E):c.324G>A (p.Ala108=)
|
rs1313464574
|
0.00001
|
NM_000733.4(CD3E):c.353-11A>T
|
rs199933802
|
0.00001
|
NM_000733.4(CD3E):c.353-13C>G
|
rs1948148867
|
0.00001
|
NM_000733.4(CD3E):c.353-4A>C
|
rs760176475
|
0.00001
|
NM_000733.4(CD3E):c.447C>T (p.Tyr149=)
|
rs1302050891
|
0.00001
|
NM_000733.4(CD3E):c.464G>A (p.Arg155Lys)
|
rs764151020
|
0.00001
|
NM_000733.4(CD3E):c.480G>A (p.Lys160=)
|
rs746750290
|
0.00001
|
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)
|
rs201840561
|
0.00001
|
NM_000733.4(CD3E):c.534G>A (p.Glu178=)
|
rs948241853
|
0.00001
|
NM_000733.4(CD3E):c.548T>C (p.Val183Ala)
|
rs148290036
|
0.00001
|
NM_000733.4(CD3E):c.55G>A (p.Val19Ile)
|
rs143630318
|
0.00001
|
NM_000733.4(CD3E):c.579A>G (p.Lys193=)
|
rs759238312
|
0.00001
|
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg)
|
rs1291390174
|
0.00001
|
NM_000733.4(CD3E):c.71-2A>G
|
rs908640922
|
0.00001
|
NM_000733.4(CD3E):c.85+7A>T
|
rs371830720
|
0.00001
|
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu)
|
rs771841066
|
0.00001
|
NC_000011.9:g.(?_118175668)_(118179176_?)del
|
|
|
NM_000733.4(CD3E):c.*383C>T
|
rs200729830
|
|
NM_000733.4(CD3E):c.*410A>G
|
rs201143285
|
|
NM_000733.4(CD3E):c.*441C>T
|
rs886047736
|
|
NM_000733.4(CD3E):c.*535C>G
|
rs200286219
|
|
NM_000733.4(CD3E):c.*557T>C
|
rs1948165620
|
|
NM_000733.4(CD3E):c.*604G>T
|
rs1263009661
|
|
NM_000733.4(CD3E):c.103+14T>A
|
|
|
NM_000733.4(CD3E):c.103+1G>A
|
rs201543770
|
|
NM_000733.4(CD3E):c.103+1G>T
|
rs201543770
|
|
NM_000733.4(CD3E):c.103+8T>C
|
|
|
NM_000733.4(CD3E):c.104-12C>A
|
|
|
NM_000733.4(CD3E):c.104-18T>C
|
|
|
NM_000733.4(CD3E):c.104-6C>T
|
|
|
NM_000733.4(CD3E):c.119T>C (p.Ile40Thr)
|
rs2134766495
|
|
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)
|
|
|
NM_000733.4(CD3E):c.147C>T (p.Cys49=)
|
|
|
NM_000733.4(CD3E):c.15T>C (p.Thr5=)
|
|
|
NM_000733.4(CD3E):c.15T>G (p.Thr5=)
|
|
|
NM_000733.4(CD3E):c.171A>C (p.Ile57=)
|
|
|
NM_000733.4(CD3E):c.176G>A (p.Trp59Ter)
|
rs121918659
|
|
NM_000733.4(CD3E):c.17A>C (p.His6Pro)
|
rs1009249314
|
|
NM_000733.4(CD3E):c.189T>C (p.Asp63=)
|
|
|
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)
|
|
|
NM_000733.4(CD3E):c.201C>T (p.Gly67=)
|
|
|
NM_000733.4(CD3E):c.202_228del (p.Gly68_Gly76del)
|
rs758638097
|
|
NM_000733.4(CD3E):c.202_228dup (p.Gly68_Gly76dup)
|
rs758638097
|
|
NM_000733.4(CD3E):c.210G>A (p.Glu70=)
|
|
|
NM_000733.4(CD3E):c.211G>A (p.Asp71Asn)
|
rs148647954
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr)
|
rs1948142751
|
|
NM_000733.4(CD3E):c.234T>C (p.Asp78=)
|
|
|
NM_000733.4(CD3E):c.239A>C (p.Asp80Ala)
|
rs2134766737
|
|
NM_000733.4(CD3E):c.258A>G (p.Glu86=)
|
|
|
NM_000733.4(CD3E):c.261_262del (p.Ser88fs)
|
rs1249197356
|
|
NM_000733.4(CD3E):c.268T>C (p.Leu90=)
|
|
|
NM_000733.4(CD3E):c.282T>G (p.Gly94=)
|
|
|
NM_000733.4(CD3E):c.285T>C (p.Tyr95=)
|
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
NM_000733.4(CD3E):c.288T>C (p.Tyr96=)
|
|
|
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg)
|
rs1948143376
|
|
NM_000733.4(CD3E):c.298C>A (p.Pro100Thr)
|
rs201369123
|
|
NM_000733.4(CD3E):c.30G>A (p.Leu10=)
|
|
|
NM_000733.4(CD3E):c.30G>T (p.Leu10=)
|
|
|
NM_000733.4(CD3E):c.313C>A (p.Pro105Thr)
|
rs1258864566
|
|
NM_000733.4(CD3E):c.323C>A (p.Ala108Glu)
|
rs35299792
|
|
NM_000733.4(CD3E):c.324G>T (p.Ala108=)
|
|
|
NM_000733.4(CD3E):c.342G>C (p.Leu114=)
|
|
|
NM_000733.4(CD3E):c.352+14C>T
|
|
|
NM_000733.4(CD3E):c.352+9G>A
|
rs1255695253
|
|
NM_000733.4(CD3E):c.353-11_353-7del
|
|
|
NM_000733.4(CD3E):c.353-12C>T
|
|
|
NM_000733.4(CD3E):c.353-15C>A
|
|
|
NM_000733.4(CD3E):c.353-15C>T
|
|
|
NM_000733.4(CD3E):c.353-1G>A
|
|
|
NM_000733.4(CD3E):c.353-4A>G
|
|
|
NM_000733.4(CD3E):c.353-4dup
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
NM_000733.4(CD3E):c.353-5C>G
|
|
|
NM_000733.4(CD3E):c.353-5C>T
|
rs374456909
|
|
NM_000733.4(CD3E):c.353-5del
|
|
|
NM_000733.4(CD3E):c.353-6C>A
|
|
|
NM_000733.4(CD3E):c.353-6C>G
|
|
|
NM_000733.4(CD3E):c.353-6C>T
|
rs772687199
|
|
NM_000733.4(CD3E):c.353-9C>T
|
|
|
NM_000733.4(CD3E):c.360G>A (p.Glu120=)
|
|
|
NM_000733.4(CD3E):c.360G>C (p.Glu120Asp)
|
rs1361788582
|
|
NM_000733.4(CD3E):c.39C>T (p.Cys13=)
|
|
|
NM_000733.4(CD3E):c.409G>A (p.Asp137Asn)
|
|
|
NM_000733.4(CD3E):c.409G>T (p.Asp137Tyr)
|
rs2134767843
|
|
NM_000733.4(CD3E):c.417C>T (p.Cys139=)
|
|
|
NM_000733.4(CD3E):c.420C>T (p.Ile140=)
|
|
|
NM_000733.4(CD3E):c.424G>C (p.Gly142Arg)
|
rs2134767860
|
|
NM_000733.4(CD3E):c.428del (p.Gly143fs)
|
|
|
NM_000733.4(CD3E):c.429C>A (p.Gly143=)
|
|
|
NM_000733.4(CD3E):c.42C>T (p.Leu14=)
|
|
|
NM_000733.4(CD3E):c.435G>A (p.Leu145=)
|
|
|
NM_000733.4(CD3E):c.436C>T (p.Leu146=)
|
|
|
NM_000733.4(CD3E):c.439C>G (p.Leu147Val)
|
rs748959958
|
|
NM_000733.4(CD3E):c.468G>A (p.Lys156=)
|
|
|
NM_000733.4(CD3E):c.469G>T (p.Ala157Ser)
|
rs1344416489
|
|
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)
|
|
|
NM_000733.4(CD3E):c.475G>T (p.Ala159Ser)
|
|
|
NM_000733.4(CD3E):c.481C>G (p.Pro161Ala)
|
|
|
NM_000733.4(CD3E):c.49+14A>G
|
|
|
NM_000733.4(CD3E):c.49+1G>A
|
|
|
NM_000733.4(CD3E):c.49+1G>C
|
|
|
NM_000733.4(CD3E):c.49+8G>A
|
|
|
NM_000733.4(CD3E):c.490C>A (p.Arg164=)
|
|
|
NM_000733.4(CD3E):c.490C>G (p.Arg164Gly)
|
|
|
NM_000733.4(CD3E):c.495A>G (p.Gly165=)
|
rs2134767983
|
|
NM_000733.4(CD3E):c.498G>C (p.Ala166=)
|
|
|
NM_000733.4(CD3E):c.50-10del
|
|
|
NM_000733.4(CD3E):c.50-17T>C
|
|
|
NM_000733.4(CD3E):c.50-4C>T
|
|
|
NM_000733.4(CD3E):c.50-7T>G
|
|
|
NM_000733.4(CD3E):c.504T>G (p.Ala168=)
|
|
|
NM_000733.4(CD3E):c.507C>A (p.Gly169=)
|
rs2231447
|
|
NM_000733.4(CD3E):c.508G>A (p.Gly170Ser)
|
rs199578380
|
|
NM_000733.4(CD3E):c.517A>C (p.Arg173=)
|
|
|
NM_000733.4(CD3E):c.51T>G (p.Val17=)
|
rs1591267192
|
|
NM_000733.4(CD3E):c.520+10T>C
|
|
|
NM_000733.4(CD3E):c.520+17C>T
|
|
|
NM_000733.4(CD3E):c.520+19G>C
|
|
|
NM_000733.4(CD3E):c.520+1G>A
|
|
|
NM_000733.4(CD3E):c.520+20T>C
|
|
|
NM_000733.4(CD3E):c.520+2T>C
|
rs483352928
|
|
NM_000733.4(CD3E):c.521-10T>A
|
|
|
NM_000733.4(CD3E):c.521-13C>T
|
|
|
NM_000733.4(CD3E):c.521-15del
|
rs2134768659
|
|
NM_000733.4(CD3E):c.521-19T>C
|
|
|
NM_000733.4(CD3E):c.521-4G>A
|
|
|
NM_000733.4(CD3E):c.521-4G>T
|
|
|
NM_000733.4(CD3E):c.521-5C>T
|
|
|
NM_000733.4(CD3E):c.521-9C>G
|
|
|
NM_000733.4(CD3E):c.521-9C>T
|
|
|
NM_000733.4(CD3E):c.530del (p.Lys177fs)
|
rs745496161
|
|
NM_000733.4(CD3E):c.542C>G (p.Pro181Arg)
|
rs2134768706
|
|
NM_000733.4(CD3E):c.567+12T>C
|
rs1948154648
|
|
NM_000733.4(CD3E):c.567+14G>A
|
rs1439294225
|
|
NM_000733.4(CD3E):c.567+18T>A
|
|
|
NM_000733.4(CD3E):c.567+7T>C
|
|
|
NM_000733.4(CD3E):c.567+8G>T
|
|
|
NM_000733.4(CD3E):c.568-11_568-10del
|
rs764127460
|
|
NM_000733.4(CD3E):c.568-14T>C
|
|
|
NM_000733.4(CD3E):c.568-16T>G
|
|
|
NM_000733.4(CD3E):c.568-17_568-14del
|
|
|
NM_000733.4(CD3E):c.568-3dup
|
|
|
NM_000733.4(CD3E):c.568-6C>G
|
|
|
NM_000733.4(CD3E):c.568-7C>A
|
|
|
NM_000733.4(CD3E):c.568-9C>T
|
|
|
NM_000733.4(CD3E):c.575G>C (p.Arg192Pro)
|
|
|
NM_000733.4(CD3E):c.585G>A (p.Gln195=)
|
|
|
NM_000733.4(CD3E):c.586C>A (p.Arg196=)
|
|
|
NM_000733.4(CD3E):c.587G>A (p.Arg196Gln)
|
|
|
NM_000733.4(CD3E):c.58T>G (p.Trp20Gly)
|
|
|
NM_000733.4(CD3E):c.592C>T (p.Leu198=)
|
|
|
NM_000733.4(CD3E):c.59G>T (p.Trp20Leu)
|
rs914391006
|
|
NM_000733.4(CD3E):c.603C>T (p.Gly201=)
|
rs2134769949
|
|
NM_000733.4(CD3E):c.623G>A (p.Ter208=)
|
|
|
NM_000733.4(CD3E):c.63G>A (p.Gly21=)
|
|
|
NM_000733.4(CD3E):c.70+10G>A
|
|
|
NM_000733.4(CD3E):c.70+11C>T
|
|
|
NM_000733.4(CD3E):c.70+11CTTT[3]
|
|
|
NM_000733.4(CD3E):c.70+14T>G
|
|
|
NM_000733.4(CD3E):c.70+15C>T
|
|
|
NM_000733.4(CD3E):c.71-10T>C
|
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NM_000733.4(CD3E):c.71-11T>C
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NM_000733.4(CD3E):c.71-17T>A
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NM_000733.4(CD3E):c.71-8C>T
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NM_000733.4(CD3E):c.71G>T (p.Gly24Val)
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NM_000733.4(CD3E):c.85+13C>T
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NM_000733.4(CD3E):c.85+16_85+24dup
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NM_000733.4(CD3E):c.85+20A>C
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NM_000733.4(CD3E):c.85+4A>G
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rs2134762623
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NM_000733.4(CD3E):c.86-10dup
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NM_000733.4(CD3E):c.86-15T>C
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NM_000733.4(CD3E):c.86-7T>C
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NM_000733.4(CD3E):c.86-8A>G
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NM_000733.4(CD3E):c.89G>C (p.Gly30Ala)
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NM_000733.4(CD3E):c.99G>C (p.Gln33His)
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rs1948139036
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NM_000733.4(CD3E):c.9G>A (p.Ser3=)
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rs776010793
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