NM_002351.4(SH2D1A):c.-346C>T
|
rs12164382
|
0.43694
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_001167.4(XIAP):c.276T>C (p.Phe92=)
|
rs45575532
|
0.00080
|
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)
|
rs138783302
|
0.00068
|
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)
|
rs143165174
|
0.00050
|
NM_001167.4(XIAP):c.688G>A (p.Val230Ile)
|
rs144884904
|
0.00036
|
NM_001167.4(XIAP):c.978G>A (p.Gly326=)
|
rs376282989
|
0.00035
|
NM_001167.4(XIAP):c.309G>A (p.Thr103=)
|
rs140230812
|
0.00034
|
NM_002351.5(SH2D1A):c.346+3A>G
|
rs199706936
|
0.00031
|
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu)
|
rs140889955
|
0.00024
|
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser)
|
rs150317928
|
0.00020
|
NM_001167.4(XIAP):c.1242A>G (p.Leu414=)
|
rs147262472
|
0.00016
|
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln)
|
rs781204574
|
0.00013
|
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)
|
rs777303823
|
0.00012
|
NM_001167.4(XIAP):c.1056+19A>T
|
rs769758486
|
0.00011
|
NM_001167.4(XIAP):c.1230G>A (p.Leu410=)
|
rs761489362
|
0.00010
|
NM_001167.4(XIAP):c.499T>C (p.Leu167=)
|
rs374298061
|
0.00009
|
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)
|
rs199639961
|
0.00009
|
NM_002351.5(SH2D1A):c.138-19G>A
|
rs370365609
|
0.00009
|
NM_001167.4(XIAP):c.1096A>G (p.Ile366Val)
|
rs766720607
|
0.00008
|
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln)
|
rs770122195
|
0.00008
|
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)
|
rs182340753
|
0.00007
|
NM_001167.4(XIAP):c.1100-19T>G
|
rs28382736
|
0.00006
|
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)
|
rs200273554
|
0.00006
|
NM_001167.4(XIAP):c.296A>G (p.Glu99Gly)
|
rs769904534
|
0.00006
|
NM_001167.4(XIAP):c.1149G>A (p.Gly383=)
|
rs374184914
|
0.00005
|
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys)
|
rs775237858
|
0.00005
|
NM_001167.4(XIAP):c.1194G>T (p.Gln398His)
|
rs776377233
|
0.00005
|
NM_001167.4(XIAP):c.1057-7G>A
|
rs753427928
|
0.00003
|
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)
|
rs377097035
|
0.00003
|
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
|
rs772035642
|
0.00003
|
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg)
|
rs753415949
|
0.00003
|
NM_001167.4(XIAP):c.368G>A (p.Ser123Asn)
|
rs368343771
|
0.00003
|
NM_001167.4(XIAP):c.870T>C (p.Tyr290=)
|
rs770461720
|
0.00003
|
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)
|
rs954824608
|
0.00003
|
NM_001167.4(XIAP):c.1071G>A (p.Glu357=)
|
rs369835712
|
0.00002
|
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met)
|
rs760574724
|
0.00002
|
NM_001167.4(XIAP):c.1300+7A>G
|
rs749438405
|
0.00002
|
NM_001167.4(XIAP):c.1328G>A (p.Arg443His)
|
rs1173411245
|
0.00002
|
NM_001167.4(XIAP):c.1437C>T (p.Asp479=)
|
rs781127670
|
0.00002
|
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)
|
rs1330516966
|
0.00002
|
NM_001167.4(XIAP):c.283G>A (p.Gly95Ser)
|
rs745844064
|
0.00002
|
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
|
rs1239294219
|
0.00002
|
NM_001167.4(XIAP):c.435G>T (p.Gln145His)
|
rs759909620
|
0.00002
|
NM_001167.4(XIAP):c.446T>C (p.Ile149Thr)
|
rs774308309
|
0.00002
|
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys)
|
rs140973844
|
0.00002
|
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)
|
rs1303880423
|
0.00002
|
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter)
|
rs773573633
|
0.00001
|
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
|
rs148080493
|
0.00001
|
NM_001167.4(XIAP):c.1100-14A>C
|
rs753279953
|
0.00001
|
NM_001167.4(XIAP):c.1416A>G (p.Lys472=)
|
rs777650841
|
0.00001
|
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys)
|
rs1417605676
|
0.00001
|
NM_001167.4(XIAP):c.183G>T (p.Val61=)
|
rs144938731
|
0.00001
|
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)
|
rs1481750191
|
0.00001
|
NM_001167.4(XIAP):c.308C>T (p.Thr103Met)
|
rs749157868
|
0.00001
|
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys)
|
rs773543430
|
0.00001
|
NM_001167.4(XIAP):c.549G>A (p.Glu183=)
|
rs1308704581
|
0.00001
|
NM_001167.4(XIAP):c.606T>C (p.Cys202=)
|
rs777129433
|
0.00001
|
NM_001167.4(XIAP):c.697C>T (p.Arg233Trp)
|
rs906431319
|
0.00001
|
NM_001167.4(XIAP):c.716G>A (p.Ser239Asn)
|
rs751640412
|
0.00001
|
NM_001167.4(XIAP):c.838A>C (p.Asn280His)
|
rs758057572
|
0.00001
|
NM_001167.4(XIAP):c.878-4G>A
|
rs371671137
|
0.00001
|
NM_001167.4(XIAP):c.915A>T (p.Gly305=)
|
rs755919911
|
0.00001
|
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)
|
rs1280883217
|
0.00001
|
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=)
|
rs1484311033
|
0.00001
|
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=)
|
rs1569527113
|
0.00001
|
NM_002351.5(SH2D1A):c.144C>T (p.His48=)
|
rs765804146
|
0.00001
|
NM_002351.5(SH2D1A):c.201+4T>G
|
rs201574927
|
0.00001
|
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=)
|
rs775759946
|
0.00001
|
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val)
|
rs757900199
|
0.00001
|
NM_002351.5(SH2D1A):c.346+6A>T
|
rs746265444
|
0.00001
|
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=)
|
rs1230442586
|
0.00001
|
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)
|
rs148554414
|
0.00001
|
NC_000023.10:g.(?_122318388)_(123505241_?)del
|
|
|
NC_000023.10:g.(?_123019513)_(123020409_?)dup
|
|
|
NC_000023.10:g.(?_123019513)_(123041031_?)dup
|
|
|
NC_000023.10:g.(?_123480147)_(123480649_?)del
|
|
|
NC_000023.10:g.(?_123480147)_(123505241_?)dup
|
|
|
NC_000023.10:g.(?_123480493)_(123505241_?)del
|
|
|
NC_000023.10:g.(?_123494030)_(123499653_?)del
|
|
|
NC_000023.10:g.(?_123499591)_(123499694_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123886559_?)dup
|
|
|
NC_000023.11:g.(?_123885637)_(123888738_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123892793_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123907201_?)del
|
|
|
NC_000023.11:g.(?_123885637)_(123907201_?)dup
|
|
|
NC_000023.11:g.(?_123888599)_(123888738_?)dup
|
|
|
NC_000023.11:g.(?_123891218)_(123892793_?)del
|
|
|
NC_000023.11:g.(?_124346297)_(124371411_?)del
|
|
|
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
|
|
|
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs)
|
rs2148096182
|
|
NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)
|
|
|
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)
|
rs2053404854
|
|
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs)
|
rs1556406033
|
|
NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)
|
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
|
rs773573633
|
|
NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)
|
|
|
NM_001167.4(XIAP):c.1053T>C (p.Cys351=)
|
rs2053405322
|
|
NM_001167.4(XIAP):c.1056+13T>A
|
|
|
NM_001167.4(XIAP):c.1056+13_1056+14del
|
rs1491462505
|
|
NM_001167.4(XIAP):c.1056+21_1056+22del
|
rs2148096290
|
|
NM_001167.4(XIAP):c.1056+28_1056+60dup
|
|
|
NM_001167.4(XIAP):c.1057-20A>G
|
|
|
NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)
|
|
|
NM_001167.4(XIAP):c.108del (p.Pro37fs)
|
rs1556404455
|
|
NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)
|
|
|
NM_001167.4(XIAP):c.1099+20A>G
|
rs751904914
|
|
NM_001167.4(XIAP):c.1099+2T>C
|
rs2148097889
|
|
NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)
|
|
|
NM_001167.4(XIAP):c.1100-14A>T
|
|
|
NM_001167.4(XIAP):c.1100-8del
|
|
|
NM_001167.4(XIAP):c.1101T>C (p.Asp367=)
|
rs2148107324
|
|
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)
|
rs2053505712
|
|
NM_001167.4(XIAP):c.1122T>C (p.Pro374=)
|
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)
|
rs2053506466
|
|
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu)
|
rs2053506750
|
|
NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)
|
|
|
NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser)
|
rs2148107469
|
|
NM_001167.4(XIAP):c.124G>A (p.Val42Ile)
|
|
|
NM_001167.4(XIAP):c.1257A>G (p.Lys419=)
|
|
|
NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)
|
|
|
NM_001167.4(XIAP):c.1264A>G (p.Met422Val)
|
|
|
NM_001167.4(XIAP):c.1299A>G (p.Lys433=)
|
|
|
NM_001167.4(XIAP):c.1300+10G>T
|
|
|
NM_001167.4(XIAP):c.1300+12T>G
|
|
|
NM_001167.4(XIAP):c.1300+17T>C
|
rs2148107543
|
|
NM_001167.4(XIAP):c.1301-17A>T
|
|
|
NM_001167.4(XIAP):c.1301-1G>A
|
|
|
NM_001167.4(XIAP):c.1301-20A>C
|
rs1424655367
|
|
NM_001167.4(XIAP):c.1301-6_1301-5del
|
|
|
NM_001167.4(XIAP):c.1314A>G (p.Glu438=)
|
rs199833128
|
|
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter)
|
rs2148112149
|
|
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter)
|
rs2148112156
|
|
NM_001167.4(XIAP):c.1323A>G (p.Leu441=)
|
rs2148112163
|
|
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
|
rs1489246570
|
|
NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)
|
|
|
NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)
|
|
|
NM_001167.4(XIAP):c.1380C>T (p.Ile460=)
|
|
|
NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)
|
|
|
NM_001167.4(XIAP):c.1386del (p.Phe462fs)
|
rs2148112215
|
|
NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)
|
|
|
NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)
|
|
|
NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)
|
|
|
NM_001167.4(XIAP):c.1452C>T (p.Cys484=)
|
|
|
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs)
|
rs2053561076
|
|
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
|
|
|
NM_001167.4(XIAP):c.168T>C (p.Gly56=)
|
|
|
NM_001167.4(XIAP):c.171A>G (p.Glu57=)
|
rs1556404487
|
|
NM_001167.4(XIAP):c.180C>T (p.Thr60=)
|
|
|
NM_001167.4(XIAP):c.181G>A (p.Val61Met)
|
rs2148089430
|
|
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
|
|
|
NM_001167.4(XIAP):c.18T>C (p.Phe6=)
|
|
|
NM_001167.4(XIAP):c.203C>T (p.Ala68Val)
|
rs2148089461
|
|
NM_001167.4(XIAP):c.209T>G (p.Val70Gly)
|
|
|
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter)
|
rs2053346219
|
|
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs)
|
rs2053346343
|
|
NM_001167.4(XIAP):c.249C>T (p.His83=)
|
|
|
NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)
|
|
|
NM_001167.4(XIAP):c.261C>T (p.Ser87=)
|
|
|
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)
|
rs2053346722
|
|
NM_001167.4(XIAP):c.300T>C (p.Asn100=)
|
rs2148089584
|
|
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser)
|
rs28382721
|
|
NM_001167.4(XIAP):c.327T>C (p.Gly109=)
|
|
|
NM_001167.4(XIAP):c.369C>T (p.Ser123=)
|
|
|
NM_001167.4(XIAP):c.371del (p.Arg124fs)
|
|
|
NM_001167.4(XIAP):c.376C>G (p.His126Asp)
|
rs2053348107
|
|
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)
|
rs1556404575
|
|
NM_001167.4(XIAP):c.408T>C (p.His136=)
|
|
|
NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)
|
|
|
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
|
rs2053348573
|
|
NM_001167.4(XIAP):c.438T>G (p.Val146=)
|
|
|
NM_001167.4(XIAP):c.445A>G (p.Ile149Val)
|
|
|
NM_001167.4(XIAP):c.446dup (p.Ser150fs)
|
rs2053348979
|
|
NM_001167.4(XIAP):c.459A>G (p.Ile153Met)
|
rs2148089808
|
|
NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)
|
|
|
NM_001167.4(XIAP):c.465G>A (p.Pro155=)
|
|
|
NM_001167.4(XIAP):c.471C>T (p.Asn157=)
|
|
|
NM_001167.4(XIAP):c.478A>G (p.Met160Val)
|
|
|
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
|
|
|
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)
|
rs2053349276
|
|
NM_001167.4(XIAP):c.486T>C (p.Ser162=)
|
rs2053349352
|
|
NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)
|
|
|
NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)
|
|
|
NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr)
|
rs2148089869
|
|
NM_001167.4(XIAP):c.532C>T (p.His178Tyr)
|
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
NM_001167.4(XIAP):c.588C>T (p.Asp196=)
|
|
|
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter)
|
rs2053350325
|
|
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del)
|
rs2148089962
|
|
NM_001167.4(XIAP):c.60del (p.Glu21fs)
|
rs2148089318
|
|
NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)
|
|
|
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)
|
rs2053350739
|
|
NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)
|
|
|
NM_001167.4(XIAP):c.659A>G (p.His220Arg)
|
|
|
NM_001167.4(XIAP):c.660C>G (p.His220Gln)
|
|
|
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter)
|
rs1556404684
|
|
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
|
|
|
NM_001167.4(XIAP):c.666A>G (p.Arg222=)
|
|
|
NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)
|
|
|
NM_001167.4(XIAP):c.693G>A (p.Leu231=)
|
|
|
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter)
|
rs111978474
|
|
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln)
|
rs1226148384
|
|
NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)
|
|
|
NM_001167.4(XIAP):c.72A>G (p.Val24=)
|
rs1209504379
|
|
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe)
|
rs1602544652
|
|
NM_001167.4(XIAP):c.738T>C (p.Ser246=)
|
|
|
NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)
|
|
|
NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)
|
|
|
NM_001167.4(XIAP):c.755dup (p.Asn252fs)
|
rs2148090158
|
|
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser)
|
rs1602544717
|
|
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)
|
rs2148090201
|
|
NM_001167.4(XIAP):c.802C>T (p.Arg268Trp)
|
rs2148090224
|
|
NM_001167.4(XIAP):c.804G>A (p.Arg268=)
|
|
|
NM_001167.4(XIAP):c.805A>C (p.Ile269Leu)
|
rs2148090233
|
|
NM_001167.4(XIAP):c.807C>G (p.Ile269Met)
|
|
|
NM_001167.4(XIAP):c.819G>A (p.Gly273=)
|
rs2148090248
|
|
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)
|
rs2053353262
|
|
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)
|
rs777303823
|
|
NM_001167.4(XIAP):c.877+8_877+9del
|
rs1355498168
|
|
NM_001167.4(XIAP):c.878-5C>G
|
rs367801081
|
|
NM_001167.4(XIAP):c.878-5C>T
|
rs367801081
|
|
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly)
|
rs2148092754
|
|
NM_001167.4(XIAP):c.894_898del (p.Lys299fs)
|
rs2148092759
|
|
NM_001167.4(XIAP):c.921_924del (p.Thr308fs)
|
rs2148092792
|
|
NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)
|
|
|
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter)
|
rs1602546782
|
|
NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)
|
|
|
NM_001167.4(XIAP):c.977+3A>G
|
rs2053376412
|
|
NM_001167.4(XIAP):c.977+4A>G
|
|
|
NM_001167.4(XIAP):c.978-10_978-4del
|
rs1602549230
|
|
NM_001167.4(XIAP):c.978-2A>G
|
rs2148096152
|
|
NM_001167.4(XIAP):c.978-6G>A
|
|
|
NM_001167.4(XIAP):c.978-9A>G
|
rs1602549234
|
|
NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)
|
|
|
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
|
|
|
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
|
|
|
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val)
|
rs1556619338
|
|
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
|
|
|
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
|
|
|
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
|
|
|
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)
|
rs2059993925
|
|
NM_002351.5(SH2D1A):c.138-1G>A
|
|
|
NM_002351.5(SH2D1A):c.138-7T>C
|
|
|
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
|
|
|
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val)
|
rs2147531318
|
|
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
|
|
|
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)
|
rs111033623
|
|
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln)
|
rs111033630
|
|
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=)
|
rs1569527577
|
|
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter)
|
rs746035909
|
|
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
|
|
|
NM_002351.5(SH2D1A):c.197_201+9del
|
rs2060052777
|
|
NM_002351.5(SH2D1A):c.201+12T>C
|
|
|
NM_002351.5(SH2D1A):c.201+1G>A
|
|
|
NM_002351.5(SH2D1A):c.201+20del
|
|
|
NM_002351.5(SH2D1A):c.201+2T>C
|
rs2147531379
|
|
NM_002351.5(SH2D1A):c.202-10T>C
|
|
|
NM_002351.5(SH2D1A):c.202-17G>A
|
rs2147534006
|
|
NM_002351.5(SH2D1A):c.202-5del
|
rs767110636
|
|
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)
|
rs111033627
|
|
NM_002351.5(SH2D1A):c.219T>C (p.His73=)
|
|
|
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=)
|
rs2147534039
|
|
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
|
|
|
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)
|
rs2147534047
|
|
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
|
|
|
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu)
|
rs775759946
|
|
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
|
|
|
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
|
|
|
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)
|
rs2147519353
|
|
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
|
|
|
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=)
|
rs2060066337
|
|
NM_002351.5(SH2D1A):c.347-32_347-28del
|
rs200198093
|
|
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met)
|
rs2147534671
|
|
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)
|
rs2060068693
|
|
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)
|
|
|
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
|
rs2060068721
|
|
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly)
|
rs111033625
|
|
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
|
|
|
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=)
|
rs72610640
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)
|
rs2059993641
|
|
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
|
|
|
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
|
|
|
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)
|
|
|