|
NM_198053.3(CD247):c.300+121A>G
|
rs2462553
|
0.86442
|
|
NM_000732.6(CD3D):c.451-18T>G
|
rs2276424
|
0.61431
|
|
NM_000733.3(CD3E):c.-112G>A
|
rs2231440
|
0.25571
|
|
NM_000733.4(CD3E):c.54C>T (p.Gly18=)
|
rs1126924
|
0.25335
|
|
NM_198053.3(CD247):c.219+16C>A
|
rs12141641
|
0.10900
|
|
NM_198053.3(CD247):c.249C>T (p.Tyr83=)
|
rs33937946
|
0.07227
|
|
NM_000733.4(CD3E):c.*55C>A
|
rs2231450
|
0.05808
|
|
NM_000733.4(CD3E):c.*48C>A
|
rs2231449
|
0.02215
|
|
NM_198053.3(CD247):c.246G>A (p.Glu82=)
|
rs34940956
|
0.01978
|
|
NM_000732.6(CD3D):c.406+18G>A
|
rs28606580
|
0.01380
|
|
NM_000733.4(CD3E):c.104-17C>T
|
rs2231443
|
0.00897
|
|
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
|
rs2231447
|
0.00816
|
|
NM_000732.6(CD3D):c.*59C>T
|
rs113271462
|
0.00716
|
|
NM_198053.3(CD247):c.300+8T>A
|
rs56199250
|
0.00577
|
|
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_198053.3(CD247):c.430-18G>A
|
rs116757108
|
0.00086
|
|
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)
|
rs141902449
|
0.00084
|
|
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_198053.3(CD247):c.360G>A (p.Ala120=)
|
rs568106106
|
0.00058
|
|
NM_000732.6(CD3D):c.56-17T>C
|
rs202077439
|
0.00047
|
|
NM_000733.4(CD3E):c.*522C>G
|
rs200563411
|
0.00047
|
|
NM_000733.4(CD3E):c.49+3G>A
|
rs202200315
|
0.00041
|
|
NM_198053.3(CD247):c.58+11C>A
|
rs375286157
|
0.00031
|
|
NM_198053.3(CD247):c.337-7T>C
|
rs36056000
|
0.00024
|
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
|
NM_000732.4(CD3D):c.-128G>T
|
rs200171722
|
0.00019
|
|
NM_000733.4(CD3E):c.88G>A (p.Gly30Ser)
|
rs773135734
|
0.00019
|
|
NM_198053.3(CD247):c.100C>T (p.Leu34=)
|
rs181342622
|
0.00017
|
|
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr)
|
rs200987721
|
0.00016
|
|
NM_198053.3(CD247):c.275G>A (p.Arg92Gln)
|
rs367690333
|
0.00016
|
|
NM_000732.6(CD3D):c.274+4C>T
|
rs201299420
|
0.00014
|
|
NM_000732.6(CD3D):c.450+6C>T
|
rs193922617
|
0.00013
|
|
NM_198053.3(CD247):c.397C>T (p.Arg133Trp)
|
rs751981677
|
0.00013
|
|
NM_000732.6(CD3D):c.55+5G>A
|
rs138416327
|
0.00012
|
|
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_198053.3(CD247):c.167G>T (p.Ser56Ile)
|
rs372651048
|
0.00011
|
|
NM_198053.3(CD247):c.430-6C>T
|
rs200103990
|
0.00011
|
|
NM_000733.4(CD3E):c.353-18C>T
|
rs201572053
|
0.00010
|
|
NM_198053.3(CD247):c.336+20C>T
|
rs377122263
|
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_198053.3(CD247):c.337-15C>T
|
rs150725547
|
0.00009
|
|
NM_198053.3(CD247):c.444C>T (p.Ala148=)
|
rs773084349
|
0.00009
|
|
NM_000732.6(CD3D):c.342C>T (p.Ala114=)
|
rs201721807
|
0.00008
|
|
NM_000732.6(CD3D):c.510C>T (p.Asn170=)
|
rs146997233
|
0.00008
|
|
NM_000733.3(CD3E):c.-166G>A
|
rs886047735
|
0.00008
|
|
NM_000733.4(CD3E):c.27T>G (p.Val9=)
|
rs200915775
|
0.00008
|
|
NM_198053.3(CD247):c.148T>C (p.Phe50Leu)
|
rs147458563
|
0.00008
|
|
NM_198053.3(CD247):c.251A>G (p.Asp84Gly)
|
rs181746205
|
0.00008
|
|
NM_198053.3(CD247):c.310A>G (p.Lys104Glu)
|
rs145505909
|
0.00008
|
|
NM_198053.3(CD247):c.462C>T (p.Asp154=)
|
rs181656780
|
0.00008
|
|
NM_000732.6(CD3D):c.114T>A (p.Asn38Lys)
|
rs193284900
|
0.00007
|
|
NM_000732.6(CD3D):c.152T>C (p.Leu51Pro)
|
rs200037447
|
0.00007
|
|
NM_000732.6(CD3D):c.30G>T (p.Leu10=)
|
rs202080099
|
0.00007
|
|
NM_000732.6(CD3D):c.418C>A (p.Gln140Lys)
|
rs201126605
|
0.00007
|
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
0.00007
|
|
NM_000733.4(CD3E):c.448T>C (p.Tyr150His)
|
rs146881885
|
0.00007
|
|
NM_198053.3(CD247):c.337-14G>A
|
rs375668936
|
0.00007
|
|
NM_000732.6(CD3D):c.-8G>A
|
rs201539938
|
0.00006
|
|
NM_000732.6(CD3D):c.202C>A (p.Arg68=)
|
rs111033580
|
0.00006
|
|
NM_000732.6(CD3D):c.360G>A (p.Leu120=)
|
rs150570955
|
0.00006
|
|
NM_000732.6(CD3D):c.505C>T (p.Arg169Trp)
|
rs367800432
|
0.00006
|
|
NM_000732.6(CD3D):c.55+12C>A
|
rs1379953201
|
0.00006
|
|
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_198053.3(CD247):c.220-20C>T
|
rs184666213
|
0.00006
|
|
NM_000732.6(CD3D):c.275-18T>C
|
rs200238286
|
0.00005
|
|
NM_198053.3(CD247):c.220-3T>C
|
rs369712780
|
0.00005
|
|
NM_198053.3(CD247):c.58+12G>A
|
rs776195661
|
0.00005
|
|
NM_000732.6(CD3D):c.-77G>A
|
rs1006260323
|
0.00004
|
|
NM_000732.6(CD3D):c.235_237del (p.Tyr79del)
|
rs763077739
|
0.00004
|
|
NM_000732.6(CD3D):c.416C>T (p.Thr139Ile)
|
rs527584796
|
0.00004
|
|
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_198053.3(CD247):c.155G>A (p.Arg52Lys)
|
rs368651001
|
0.00004
|
|
NM_198053.3(CD247):c.274C>T (p.Arg92Trp)
|
rs144963570
|
0.00004
|
|
NM_198053.3(CD247):c.288G>T (p.Met96Ile)
|
rs139926301
|
0.00004
|
|
NM_198053.3(CD247):c.300G>A (p.Pro100=)
|
rs541120315
|
0.00004
|
|
NM_198053.3(CD247):c.429+12C>T
|
rs201171777
|
0.00004
|
|
NM_198053.3(CD247):c.491G>A (p.Arg164His)
|
rs201937405
|
0.00004
|
|
NM_198053.3(CD247):c.58+17G>A
|
rs371314747
|
0.00004
|
|
NM_000732.6(CD3D):c.-44G>A
|
rs886047739
|
0.00003
|
|
NM_000732.6(CD3D):c.274+8C>T
|
rs1209300043
|
0.00003
|
|
NM_000732.6(CD3D):c.275-5C>T
|
rs188697778
|
0.00003
|
|
NM_000732.6(CD3D):c.386A>G (p.Glu129Gly)
|
rs200132045
|
0.00003
|
|
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_198053.3(CD247):c.177A>G (p.Ala59=)
|
rs373031213
|
0.00003
|
|
NM_198053.3(CD247):c.398G>A (p.Arg133Gln)
|
rs147527561
|
0.00003
|
|
NM_198053.3(CD247):c.411G>C (p.Gly137=)
|
rs148298128
|
0.00003
|
|
NM_198053.3(CD247):c.463G>A (p.Ala155Thr)
|
rs561262982
|
0.00003
|
|
NM_198053.3(CD247):c.486C>T (p.Pro162=)
|
rs190037664
|
0.00003
|
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
|
NM_000732.6(CD3D):c.187C>T (p.Arg63Cys)
|
rs149264725
|
0.00002
|
|
NM_000732.6(CD3D):c.262G>A (p.Val88Ile)
|
rs200260087
|
0.00002
|
|
NM_000732.6(CD3D):c.411C>T (p.Ala137=)
|
rs200520638
|
0.00002
|
|
NM_000732.6(CD3D):c.67A>C (p.Lys23Gln)
|
rs199969175
|
0.00002
|
|
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_198053.3(CD247):c.250G>C (p.Asp84His)
|
rs753572867
|
0.00002
|
|
NM_198053.3(CD247):c.253G>A (p.Val85Ile)
|
rs371709798
|
0.00002
|
|
NM_198053.3(CD247):c.28G>T (p.Ala10Ser)
|
rs753889129
|
0.00002
|
|
NM_198053.3(CD247):c.394C>T (p.Arg132Cys)
|
rs781510519
|
0.00002
|
|
NM_198053.3(CD247):c.414C>T (p.His138=)
|
rs184894260
|
0.00002
|
|
NM_198053.3(CD247):c.427C>T (p.Gln143Ter)
|
rs759213998
|
0.00002
|
|
NM_198053.3(CD247):c.430-5G>A
|
rs767214938
|
0.00002
|
|
NM_198053.3(CD247):c.58+9G>A
|
rs774727014
|
0.00002
|
|
NM_000732.6(CD3D):c.-46T>C
|
rs886047740
|
0.00001
|
|
NM_000732.6(CD3D):c.-93C>T
|
rs772705529
|
0.00001
|
|
NM_000732.6(CD3D):c.140C>T (p.Thr47Met)
|
rs529884894
|
0.00001
|
|
NM_000732.6(CD3D):c.148A>T (p.Thr50Ser)
|
rs1217732214
|
0.00001
|
|
NM_000732.6(CD3D):c.19C>T (p.Leu7Phe)
|
rs1357653391
|
0.00001
|
|
NM_000732.6(CD3D):c.255C>T (p.Thr85=)
|
rs200910273
|
0.00001
|
|
NM_000732.6(CD3D):c.274+5G>A
|
rs730880296
|
0.00001
|
|
NM_000732.6(CD3D):c.275T>C (p.Met92Thr)
|
rs201266811
|
0.00001
|
|
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)
|
rs111033581
|
0.00001
|
|
NM_000732.6(CD3D):c.28C>G (p.Leu10Val)
|
rs758632643
|
0.00001
|
|
NM_000732.6(CD3D):c.309C>T (p.Thr103=)
|
rs777386322
|
0.00001
|
|
NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)
|
rs996998665
|
0.00001
|
|
NM_000732.6(CD3D):c.343A>T (p.Thr115Ser)
|
rs762023030
|
0.00001
|
|
NM_000732.6(CD3D):c.406+5G>A
|
rs201527689
|
0.00001
|
|
NM_000732.6(CD3D):c.407-2A>G
|
rs1341165259
|
0.00001
|
|
NM_000732.6(CD3D):c.412G>A (p.Asp138Asn)
|
rs547344580
|
0.00001
|
|
NM_000732.6(CD3D):c.435T>A (p.Asn145Lys)
|
rs1170396966
|
0.00001
|
|
NM_000732.6(CD3D):c.440A>G (p.Gln147Arg)
|
rs45510201
|
0.00001
|
|
NM_000732.6(CD3D):c.450+19G>A
|
rs779545897
|
0.00001
|
|
NM_000732.6(CD3D):c.450+8T>C
|
rs768378803
|
0.00001
|
|
NM_000732.6(CD3D):c.453C>T (p.Pro151=)
|
rs745794915
|
0.00001
|
|
NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)
|
rs1377972098
|
0.00001
|
|
NM_000732.6(CD3D):c.457C>T (p.Arg153Ter)
|
rs201994476
|
0.00001
|
|
NM_000732.6(CD3D):c.463C>T (p.Arg155Ter)
|
rs777721098
|
0.00001
|
|
NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)
|
rs200108243
|
0.00001
|
|
NM_000732.6(CD3D):c.76A>G (p.Ile26Val)
|
rs201374139
|
0.00001
|
|
NM_000732.6(CD3D):c.77T>C (p.Ile26Thr)
|
rs929117843
|
0.00001
|
|
NM_000732.6(CD3D):c.81G>A (p.Glu27=)
|
rs144504840
|
0.00001
|
|
NM_000732.6(CD3D):c.91G>A (p.Asp31Asn)
|
rs1191172324
|
0.00001
|
|
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
|
|
NM_198053.3(CD247):c.111A>T (p.Gly37=)
|
rs201451004
|
0.00001
|
|
NM_198053.3(CD247):c.15G>A (p.Ala5=)
|
rs746701386
|
0.00001
|
|
NM_198053.3(CD247):c.175G>A (p.Ala59Thr)
|
rs767112686
|
0.00001
|
|
NM_198053.3(CD247):c.219+9G>A
|
rs1444139145
|
0.00001
|
|
NM_198053.3(CD247):c.263A>G (p.Lys88Arg)
|
rs143180729
|
0.00001
|
|
NM_198053.3(CD247):c.268C>T (p.Arg90Cys)
|
rs148513413
|
0.00001
|
|
NM_198053.3(CD247):c.269G>A (p.Arg90His)
|
rs1162990874
|
0.00001
|
|
NM_198053.3(CD247):c.27G>A (p.Ala9=)
|
rs757294201
|
0.00001
|
|
NM_198053.3(CD247):c.289G>A (p.Gly97Arg)
|
rs56297636
|
0.00001
|
|
NM_198053.3(CD247):c.300+3A>G
|
rs1259655555
|
0.00001
|
|
NM_198053.3(CD247):c.301-15C>T
|
rs778391175
|
0.00001
|
|
NM_198053.3(CD247):c.337-6C>A
|
rs1313839129
|
0.00001
|
|
NM_198053.3(CD247):c.359C>T (p.Ala120Val)
|
rs745871212
|
0.00001
|
|
NM_198053.3(CD247):c.386A>G (p.Lys129Arg)
|
rs756340039
|
0.00001
|
|
NM_198053.3(CD247):c.394-10A>G
|
rs369387062
|
0.00001
|
|
NM_198053.3(CD247):c.39G>A (p.Gln13=)
|
rs760945719
|
0.00001
|
|
NM_198053.3(CD247):c.429+16G>A
|
rs777799139
|
0.00001
|
|
NM_198053.3(CD247):c.429+19C>T
|
rs769910123
|
0.00001
|
|
NM_198053.3(CD247):c.490C>T (p.Arg164Cys)
|
rs752198795
|
0.00001
|
|
NM_198053.3(CD247):c.495A>C (p.Ter165Tyr)
|
rs1651272129
|
0.00001
|
|
NM_198053.3(CD247):c.51dup (p.Ile18fs)
|
rs1553238837
|
0.00001
|
|
NC_000001.10:g.(?_167400898)_(167487722_?)dup
|
|
|
|
NC_000001.10:g.(?_167400918)_(167410024_?)dup
|
|
|
|
NC_000001.10:g.(?_167400918)_(168282240_?)dup
|
|
|
|
NC_000001.10:g.(?_167487625)_(167487702_?)del
|
|
|
|
NC_000011.9:g.(?_116691583)_(121500272_?)dup
|
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)del
|
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
|
NC_000011.9:g.(?_118175668)_(118179176_?)del
|
|
|
|
NM_000732.6(CD3D):c.108T>C (p.Asn36=)
|
|
|
|
NM_000732.6(CD3D):c.112A>G (p.Asn38Asp)
|
rs1346172061
|
|
|
NM_000732.6(CD3D):c.11G>A (p.Ser4Asn)
|
|
|
|
NM_000732.6(CD3D):c.121A>G (p.Ile41Val)
|
rs886047737
|
|
|
NM_000732.6(CD3D):c.126A>G (p.Thr42=)
|
rs1948290662
|
|
|
NM_000732.6(CD3D):c.128G>A (p.Trp43Ter)
|
rs1591278347
|
|
|
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
|
|
|
|
NM_000732.6(CD3D):c.141G>A (p.Thr47=)
|
|
|
|
NM_000732.6(CD3D):c.156C>G (p.Leu52=)
|
rs751800253
|
|
|
NM_000732.6(CD3D):c.159A>T (p.Ser53=)
|
|
|
|
NM_000732.6(CD3D):c.15G>A (p.Thr5=)
|
rs747917280
|
|
|
NM_000732.6(CD3D):c.15del (p.Leu7fs)
|
|
|
|
NM_000732.6(CD3D):c.162C>T (p.Asp54=)
|
|
|
|
NM_000732.6(CD3D):c.163A>C (p.Ile55Leu)
|
rs1313114791
|
|
|
NM_000732.6(CD3D):c.167C>T (p.Thr56Ile)
|
rs201422803
|
|
|
NM_000732.6(CD3D):c.172C>T (p.Leu58=)
|
rs2134059883
|
|
|
NM_000732.6(CD3D):c.174G>A (p.Leu58=)
|
|
|
|
NM_000732.6(CD3D):c.189C>T (p.Arg63=)
|
rs1948289777
|
|
|
NM_000732.6(CD3D):c.18dup (p.Leu7fs)
|
|
|
|
NM_000732.6(CD3D):c.202C>G (p.Arg68Gly)
|
rs111033580
|
|
|
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)
|
rs111033580
|
|
|
NM_000732.6(CD3D):c.211T>C (p.Tyr71His)
|
rs377725940
|
|
|
NM_000732.6(CD3D):c.213T>C (p.Tyr71=)
|
|
|
|
NM_000732.6(CD3D):c.222T>C (p.Asn74=)
|
|
|
|
NM_000732.6(CD3D):c.225G>A (p.Gly75=)
|
|
|
|
NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)
|
|
|
|
NM_000732.6(CD3D):c.236A>G (p.Tyr79Cys)
|
|
|
|
NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)
|
|
|
|
NM_000732.6(CD3D):c.239A>G (p.Lys80Arg)
|
|
|
|
NM_000732.6(CD3D):c.244A>G (p.Lys82Glu)
|
rs1555119773
|
|
|
NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)
|
rs201889742
|
|
|
NM_000732.6(CD3D):c.271C>T (p.Arg91Ter)
|
|
|
|
NM_000732.6(CD3D):c.274+15A>G
|
|
|
|
NM_000732.6(CD3D):c.274+16A>G
|
|
|
|
NM_000732.6(CD3D):c.274+18C>A
|
|
|
|
NM_000732.6(CD3D):c.274+20T>G
|
|
|
|
NM_000732.6(CD3D):c.274+2T>C
|
|
|
|
NM_000732.6(CD3D):c.275-13C>T
|
|
|
|
NM_000732.6(CD3D):c.275-19C>T
|
|
|
|
NM_000732.6(CD3D):c.275-9C>G
|
|
|
|
NM_000732.6(CD3D):c.275-9C>T
|
|
|
|
NM_000732.6(CD3D):c.278G>A (p.Cys93Tyr)
|
rs2134059424
|
|
|
NM_000732.6(CD3D):c.27C>T (p.Gly9=)
|
|
|
|
NM_000732.6(CD3D):c.285C>A (p.Ser95Arg)
|
rs1948285052
|
|
|
NM_000732.6(CD3D):c.300T>C (p.Asp100=)
|
|
|
|
NM_000732.6(CD3D):c.303A>G (p.Pro101=)
|
|
|
|
NM_000732.6(CD3D):c.30G>A (p.Leu10=)
|
|
|
|
NM_000732.6(CD3D):c.327C>T (p.Val109=)
|
|
|
|
NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)
|
|
|
|
NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)
|
|
|
|
NM_000732.6(CD3D):c.346C>T (p.Leu116=)
|
|
|
|
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
|
|
|
|
NM_000732.6(CD3D):c.356C>A (p.Ala119Asp)
|
rs1948284280
|
|
|
NM_000732.6(CD3D):c.356C>T (p.Ala119Val)
|
rs1948284280
|
|
|
NM_000732.6(CD3D):c.373T>C (p.Phe125Leu)
|
rs554138504
|
|
|
NM_000732.6(CD3D):c.378T>C (p.Ala126=)
|
rs1237318986
|
|
|
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
|
|
|
|
NM_000732.6(CD3D):c.382C>A (p.His128Asn)
|
rs534530743
|
|
|
NM_000732.6(CD3D):c.383A>T (p.His128Leu)
|
rs2134059318
|
|
|
NM_000732.6(CD3D):c.384T>C (p.His128=)
|
|
|
|
NM_000732.6(CD3D):c.396G>A (p.Arg132=)
|
|
|
|
NM_000732.6(CD3D):c.399G>C (p.Leu133=)
|
|
|
|
NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)
|
rs1948283623
|
|
|
NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)
|
|
|
|
NM_000732.6(CD3D):c.406+12A>G
|
|
|
|
NM_000732.6(CD3D):c.406+14C>A
|
|
|
|
NM_000732.6(CD3D):c.406+14C>T
|
|
|
|
NM_000732.6(CD3D):c.406+1G>T
|
|
|
|
NM_000732.6(CD3D):c.406+7G>A
|
|
|
|
NM_000732.6(CD3D):c.407-10G>A
|
|
|
|
NM_000732.6(CD3D):c.407-10G>T
|
|
|
|
NM_000732.6(CD3D):c.407-13C>G
|
|
|
|
NM_000732.6(CD3D):c.407-15C>T
|
rs2134058903
|
|
|
NM_000732.6(CD3D):c.407-17C>T
|
|
|
|
NM_000732.6(CD3D):c.407-18T>C
|
|
|
|
NM_000732.6(CD3D):c.407-19CT[3]
|
|
|
|
NM_000732.6(CD3D):c.407-1G>A
|
rs2134058885
|
|
|
NM_000732.6(CD3D):c.407-7C>T
|
|
|
|
NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)
|
|
|
|
NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)
|
|
|
|
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
|
|
|
|
NM_000732.6(CD3D):c.418C>G (p.Gln140Glu)
|
rs201126605
|
|
|
NM_000732.6(CD3D):c.41C>G (p.Thr14Ser)
|
rs200847716
|
|
|
NM_000732.6(CD3D):c.430A>C (p.Arg144=)
|
|
|
|
NM_000732.6(CD3D):c.444C>G (p.Val148=)
|
|
|
|
NM_000732.6(CD3D):c.450+14G>T
|
rs768322685
|
|
|
NM_000732.6(CD3D):c.450+18G>A
|
|
|
|
NM_000732.6(CD3D):c.450+7G>A
|
|
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
|
NM_000732.6(CD3D):c.451-12C>T
|
|
|
|
NM_000732.6(CD3D):c.451-15C>T
|
rs2134058621
|
|
|
NM_000732.6(CD3D):c.451-18T>C
|
|
|
|
NM_000732.6(CD3D):c.451-7C>G
|
|
|
|
NM_000732.6(CD3D):c.451-8T>C
|
|
|
|
NM_000732.6(CD3D):c.451-9C>T
|
|
|
|
NM_000732.6(CD3D):c.451-9_451-7del
|
rs758585177
|
|
|
NM_000732.6(CD3D):c.457C>G (p.Arg153Gly)
|
rs201994476
|
|
|
NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)
|
|
|
|
NM_000732.6(CD3D):c.465A>C (p.Arg155=)
|
|
|
|
NM_000732.6(CD3D):c.477G>A (p.Gln159=)
|
|
|
|
NM_000732.6(CD3D):c.480C>T (p.Tyr160=)
|
|
|
|
NM_000732.6(CD3D):c.485A>T (p.His162Leu)
|
rs1246867427
|
|
|
NM_000732.6(CD3D):c.486C>T (p.His162=)
|
|
|
|
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
|
|
|
|
NM_000732.6(CD3D):c.491G>C (p.Gly164Ala)
|
rs2134058517
|
|
|
NM_000732.6(CD3D):c.51G>A (p.Ser17=)
|
|
|
|
NM_000732.6(CD3D):c.51G>C (p.Ser17=)
|
|
|
|
NM_000732.6(CD3D):c.51G>T (p.Ser17=)
|
rs371909040
|
|
|
NM_000732.6(CD3D):c.51_52del (p.Gln18fs)
|
rs1180673589
|
|
|
NM_000732.6(CD3D):c.55+16G>A
|
|
|
|
NM_000732.6(CD3D):c.55+20G>A
|
|
|
|
NM_000732.6(CD3D):c.55+20G>C
|
|
|
|
NM_000732.6(CD3D):c.55+20del
|
|
|
|
NM_000732.6(CD3D):c.55+8T>G
|
|
|
|
NM_000732.6(CD3D):c.56-10del
|
rs1264668031
|
|
|
NM_000732.6(CD3D):c.56-15T>C
|
|
|
|
NM_000732.6(CD3D):c.56-16A>G
|
|
|
|
NM_000732.6(CD3D):c.56-7C>T
|
rs2134060049
|
|
|
NM_000732.6(CD3D):c.60C>G (p.Ser20Arg)
|
rs529268621
|
|
|
NM_000732.6(CD3D):c.84A>G (p.Glu28=)
|
|
|
|
NM_000732.6(CD3D):c.9_10del (p.His3fs)
|
|
|
|
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.128_129del (p.Thr43fs)
|
rs483352929
|
|
|
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
|
|
|
|
NM_000733.4(CD3E):c.71-11T>C
|
|
|
|
NM_000733.4(CD3E):c.71-17T>A
|
|
|
|
NM_000733.4(CD3E):c.71-8C>T
|
|
|
|
NM_000733.4(CD3E):c.71G>T (p.Gly24Val)
|
|
|
|
NM_000733.4(CD3E):c.85+13C>T
|
|
|
|
NM_000733.4(CD3E):c.85+16_85+24dup
|
|
|
|
NM_000733.4(CD3E):c.85+20A>C
|
|
|
|
NM_000733.4(CD3E):c.85+4A>G
|
rs2134762623
|
|
|
NM_000733.4(CD3E):c.86-10dup
|
|
|
|
NM_000733.4(CD3E):c.86-15T>C
|
|
|
|
NM_000733.4(CD3E):c.86-7T>C
|
|
|
|
NM_000733.4(CD3E):c.86-8A>G
|
|
|
|
NM_000733.4(CD3E):c.89G>C (p.Gly30Ala)
|
|
|
|
NM_000733.4(CD3E):c.99G>C (p.Gln33His)
|
rs1948139036
|
|
|
NM_000733.4(CD3E):c.9G>A (p.Ser3=)
|
rs776010793
|
|
|
NM_198053.3(CD247):c.112A>G (p.Ile38Val)
|
rs749227138
|
|
|
NM_198053.3(CD247):c.128G>T (p.Gly43Val)
|
rs1557996000
|
|
|
NM_198053.3(CD247):c.151C>T (p.Leu51=)
|
|
|
|
NM_198053.3(CD247):c.15G>T (p.Ala5=)
|
|
|
|
NM_198053.3(CD247):c.162+15G>A
|
|
|
|
NM_198053.3(CD247):c.162+15G>T
|
|
|
|
NM_198053.3(CD247):c.162+7A>G
|
|
|
|
NM_198053.3(CD247):c.162+8C>A
|
rs1571515476
|
|
|
NM_198053.3(CD247):c.163-13T>C
|
|
|
|
NM_198053.3(CD247):c.182C>T (p.Ala61Val)
|
|
|
|
NM_198053.3(CD247):c.187G>C (p.Ala63Pro)
|
rs55893506
|
|
|
NM_198053.3(CD247):c.191A>G (p.Tyr64Cys)
|
|
|
|
NM_198053.3(CD247):c.206A>C (p.Asn69Thr)
|
|
|
|
NM_198053.3(CD247):c.208C>T (p.Gln70Ter)
|
rs74315290
|
|
|
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)
|
|
|
|
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr)
|
rs193922741
|
|
|
NM_198053.3(CD247):c.209A>T (p.Gln70Leu)
|
rs193922740
|
|
|
NM_198053.3(CD247):c.219+10C>T
|
|
|
|
NM_198053.3(CD247):c.219+13C>G
|
rs2101994086
|
|
|
NM_198053.3(CD247):c.219+13C>T
|
rs2101994086
|
|
|
NM_198053.3(CD247):c.219+16C>G
|
rs12141641
|
|
|
NM_198053.3(CD247):c.222G>A (p.Glu74=)
|
|
|
|
NM_198053.3(CD247):c.227A>G (p.Asn76Ser)
|
rs943679483
|
|
|
NM_198053.3(CD247):c.235C>G (p.Arg79Gly)
|
rs779397562
|
|
|
NM_198053.3(CD247):c.235C>T (p.Arg79Ter)
|
rs779397562
|
|
|
NM_198053.3(CD247):c.24C>T (p.Thr8=)
|
|
|
|
NM_198053.3(CD247):c.250G>A (p.Asp84Asn)
|
rs753572867
|
|
|
NM_198053.3(CD247):c.250G>T (p.Asp84Tyr)
|
rs753572867
|
|
|
NM_198053.3(CD247):c.251A>C (p.Asp84Ala)
|
rs181746205
|
|
|
NM_198053.3(CD247):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_198053.3(CD247):c.26C>T (p.Ala9Val)
|
rs200420054
|
|
|
NM_198053.3(CD247):c.291G>A (p.Gly97=)
|
|
|
|
NM_198053.3(CD247):c.294A>G (p.Gly98=)
|
rs1453205554
|
|
|
NM_198053.3(CD247):c.2T>C (p.Met1Thr)
|
rs672601318
|
|
|
NM_198053.3(CD247):c.300+11C>T
|
|
|
|
NM_198053.3(CD247):c.300+13C>G
|
|
|
|
NM_198053.3(CD247):c.301-14G>A
|
rs373120668
|
|
|
NM_198053.3(CD247):c.301-20C>T
|
|
|
|
NM_198053.3(CD247):c.308G>A (p.Arg103Lys)
|
|
|
|
NM_198053.3(CD247):c.309G>A (p.Arg103=)
|
|
|
|
NM_198053.3(CD247):c.328C>T (p.Leu110=)
|
|
|
|
NM_198053.3(CD247):c.337-11C>A
|
|
|
|
NM_198053.3(CD247):c.337-18C>G
|
|
|
|
NM_198053.3(CD247):c.337-4G>T
|
|
|
|
NM_198053.3(CD247):c.337-5T>C
|
|
|
|
NM_198053.3(CD247):c.345G>A (p.Gln115=)
|
rs2101986584
|
|
|
NM_198053.3(CD247):c.348A>G (p.Lys116=)
|
|
|
|
NM_198053.3(CD247):c.350A>G (p.Asp117Gly)
|
rs2101986573
|
|
|
NM_198053.3(CD247):c.365C>G (p.Ala122Gly)
|
|
|
|
NM_198053.3(CD247):c.370A>T (p.Ser124Cys)
|
rs1651406974
|
|
|
NM_198053.3(CD247):c.37C>A (p.Gln13Lys)
|
rs751300208
|
|
|
NM_198053.3(CD247):c.381G>T (p.Gly127=)
|
|
|
|
NM_198053.3(CD247):c.390C>T (p.Gly130=)
|
|
|
|
NM_198053.3(CD247):c.394-19T>C
|
|
|
|
NM_198053.3(CD247):c.394-19T>G
|
|
|
|
NM_198053.3(CD247):c.394-6_394-4del
|
|
|
|
NM_198053.3(CD247):c.394-8_394-5del
|
rs769263658
|
|
|
NM_198053.3(CD247):c.395G>A (p.Arg132His)
|
|
|
|
NM_198053.3(CD247):c.401G>A (p.Arg134Lys)
|
|
|
|
NM_198053.3(CD247):c.417T>C (p.Asp139=)
|
|
|
|
NM_198053.3(CD247):c.429+13G>A
|
|
|
|
NM_198053.3(CD247):c.429+15C>T
|
|
|
|
NM_198053.3(CD247):c.430-12C>G
|
|
|
|
NM_198053.3(CD247):c.430-6C>A
|
|
|
|
NM_198053.3(CD247):c.447C>T (p.Thr149=)
|
|
|
|
NM_198053.3(CD247):c.44A>T (p.Gln15Leu)
|
|
|
|
NM_198053.3(CD247):c.45G>C (p.Gln15His)
|
|
|
|
NM_198053.3(CD247):c.488C>G (p.Pro163Arg)
|
|
|
|
NM_198053.3(CD247):c.51G>A (p.Pro17=)
|
|
|
|
NM_198053.3(CD247):c.58+11C>T
|
rs375286157
|
|
|
NM_198053.3(CD247):c.58+20G>C
|
|
|
|
NM_198053.3(CD247):c.58+6G>T
|
|
|
|
NM_198053.3(CD247):c.59-6G>T
|
|
|
|
NM_198053.3(CD247):c.6G>A (p.Lys2=)
|
|
|
|
NM_198053.3(CD247):c.76C>T (p.Leu26=)
|
rs1651787952
|
|