NM_001868.4(CPA1):c.474C>T (p.Tyr158=)
|
rs968404
|
0.13541
|
NM_001868.4(CPA1):c.622G>A (p.Ala208Thr)
|
rs34474469
|
0.02091
|
NM_001868.4(CPA1):c.604C>A (p.Gln202Lys)
|
rs61735962
|
0.00405
|
NM_001868.4(CPA1):c.321C>T (p.Phe107=)
|
rs116214014
|
0.00316
|
NM_001868.4(CPA1):c.816G>A (p.Ser272=)
|
rs34843162
|
0.00217
|
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)
|
rs144546424
|
0.00209
|
NM_001868.4(CPA1):c.621C>T (p.Thr207=)
|
rs61735158
|
0.00205
|
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile)
|
rs150653308
|
0.00165
|
NM_001868.4(CPA1):c.1209G>A (p.Thr403=)
|
rs113061008
|
0.00138
|
NM_001868.4(CPA1):c.867T>C (p.Ile289=)
|
rs115663631
|
0.00108
|
NM_001868.4(CPA1):c.695C>T (p.Thr232Met)
|
rs114488732
|
0.00104
|
NM_001868.4(CPA1):c.1029C>T (p.Leu343=)
|
rs61735156
|
0.00071
|
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)
|
rs41274176
|
0.00068
|
NM_001868.4(CPA1):c.79C>T (p.Arg27Ter)
|
rs141209213
|
0.00038
|
NM_001868.4(CPA1):c.486C>T (p.Phe162=)
|
rs140633988
|
0.00035
|
NM_001868.4(CPA1):c.5G>A (p.Arg2Gln)
|
rs145988366
|
0.00030
|
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr)
|
rs77792157
|
0.00016
|
NM_001868.4(CPA1):c.492G>A (p.Thr164=)
|
rs369058363
|
0.00016
|
NM_001868.4(CPA1):c.861G>A (p.Lys287=)
|
rs370049711
|
0.00011
|
NM_001868.4(CPA1):c.630C>T (p.Leu210=)
|
rs377138792
|
0.00010
|
NM_001868.4(CPA1):c.1145G>A (p.Arg382Gln)
|
rs782284762
|
0.00008
|
NM_001868.4(CPA1):c.696G>A (p.Thr232=)
|
rs150092860
|
0.00008
|
NM_001868.4(CPA1):c.774C>T (p.Asp258=)
|
rs368689434
|
0.00008
|
NM_001868.4(CPA1):c.141C>T (p.His47=)
|
rs535901465
|
0.00007
|
NM_001868.4(CPA1):c.859A>G (p.Lys287Glu)
|
rs550709882
|
0.00007
|
NM_001868.4(CPA1):c.419C>T (p.Pro140Leu)
|
rs1186893434
|
0.00006
|
NM_001868.4(CPA1):c.41T>C (p.Val14Ala)
|
rs782301578
|
0.00006
|
NM_001868.4(CPA1):c.586-3C>A
|
rs557631781
|
0.00006
|
NM_001868.4(CPA1):c.1218G>A (p.Ala406=)
|
rs569595458
|
0.00005
|
NM_001868.4(CPA1):c.506G>A (p.Arg169His)
|
rs114365673
|
0.00005
|
NM_001868.4(CPA1):c.542G>A (p.Arg181Gln)
|
rs377042960
|
0.00005
|
NM_001868.4(CPA1):c.65+3del
|
rs574196558
|
0.00005
|
NM_001868.4(CPA1):c.1017C>T (p.Ala339=)
|
rs782263314
|
0.00004
|
NM_001868.4(CPA1):c.1032C>T (p.Tyr344=)
|
rs202029176
|
0.00004
|
NM_001868.4(CPA1):c.1033G>A (p.Gly345Arg)
|
rs1269904343
|
0.00004
|
NM_001868.4(CPA1):c.1071T>A (p.Ile357=)
|
rs533389472
|
0.00004
|
NM_001868.4(CPA1):c.1137C>T (p.Phe379=)
|
rs570466241
|
0.00004
|
NM_001868.4(CPA1):c.1156C>T (p.Arg386Cys)
|
rs201750163
|
0.00004
|
NM_001868.4(CPA1):c.137A>T (p.Glu46Val)
|
rs201893877
|
0.00004
|
NM_001868.4(CPA1):c.218A>G (p.Gln73Arg)
|
rs781892742
|
0.00004
|
NM_001868.4(CPA1):c.358G>A (p.Ala120Thr)
|
rs782250540
|
0.00004
|
NM_001868.4(CPA1):c.719G>A (p.Arg240Gln)
|
rs781968100
|
0.00004
|
NM_001868.4(CPA1):c.726C>T (p.His242=)
|
rs782178812
|
0.00004
|
NM_001868.4(CPA1):c.93C>T (p.Ala31=)
|
rs565451182
|
0.00004
|
NM_001868.4(CPA1):c.1002G>A (p.Lys334=)
|
rs940900312
|
0.00003
|
NM_001868.4(CPA1):c.295G>A (p.Glu99Lys)
|
rs142112054
|
0.00003
|
NM_001868.4(CPA1):c.527C>T (p.Thr176Met)
|
rs782190459
|
0.00003
|
NM_001868.4(CPA1):c.586-2A>G
|
rs782465366
|
0.00003
|
NM_001868.4(CPA1):c.691A>G (p.Ser231Gly)
|
rs1040062912
|
0.00003
|
NM_001868.4(CPA1):c.709C>T (p.Arg237Cys)
|
rs184981267
|
0.00003
|
NM_001868.4(CPA1):c.776C>T (p.Ala259Val)
|
rs1009079470
|
0.00003
|
NM_001868.4(CPA1):c.114G>C (p.Lys38Asn)
|
rs782393347
|
0.00002
|
NM_001868.4(CPA1):c.1151C>T (p.Thr384Ile)
|
rs782571072
|
0.00002
|
NM_001868.4(CPA1):c.1192C>T (p.Pro398Ser)
|
rs782420276
|
0.00002
|
NM_001868.4(CPA1):c.1193C>T (p.Pro398Leu)
|
rs370058970
|
0.00002
|
NM_001868.4(CPA1):c.1217C>T (p.Ala406Val)
|
rs186407335
|
0.00002
|
NM_001868.4(CPA1):c.1228A>G (p.Ile410Val)
|
rs782718650
|
0.00002
|
NM_001868.4(CPA1):c.147+4A>C
|
rs1459226203
|
0.00002
|
NM_001868.4(CPA1):c.197G>A (p.Arg66Gln)
|
rs201332778
|
0.00002
|
NM_001868.4(CPA1):c.204C>T (p.Pro68=)
|
rs781840776
|
0.00002
|
NM_001868.4(CPA1):c.329G>A (p.Arg110Gln)
|
rs537076438
|
0.00002
|
NM_001868.4(CPA1):c.523G>A (p.Asp175Asn)
|
rs782556361
|
0.00002
|
NM_001868.4(CPA1):c.65+3A>G
|
rs577008275
|
0.00002
|
NM_001868.4(CPA1):c.718C>T (p.Arg240Trp)
|
rs200036285
|
0.00002
|
NM_001868.4(CPA1):c.787+1G>A
|
rs782790782
|
0.00002
|
NM_001868.4(CPA1):c.792C>T (p.Ser264=)
|
rs782313134
|
0.00002
|
NM_001868.4(CPA1):c.815C>T (p.Ser272Leu)
|
rs911586927
|
0.00002
|
NM_001868.4(CPA1):c.825C>T (p.Tyr275=)
|
rs782346209
|
0.00002
|
NM_001868.4(CPA1):c.847G>A (p.Glu283Lys)
|
rs782561684
|
0.00002
|
NM_001868.4(CPA1):c.1022C>A (p.Ala341Asp)
|
rs1374839239
|
0.00001
|
NM_001868.4(CPA1):c.1112A>G (p.Gln371Arg)
|
rs781853343
|
0.00001
|
NM_001868.4(CPA1):c.1144C>T (p.Arg382Trp)
|
rs782689631
|
0.00001
|
NM_001868.4(CPA1):c.1157G>A (p.Arg386His)
|
rs782338563
|
0.00001
|
NM_001868.4(CPA1):c.1203G>A (p.Lys401=)
|
rs781965999
|
0.00001
|
NM_001868.4(CPA1):c.1230C>T (p.Ile410=)
|
rs1584854380
|
0.00001
|
NM_001868.4(CPA1):c.1258T>C (p.Ter420Arg)
|
rs782257247
|
0.00001
|
NM_001868.4(CPA1):c.148-4C>T
|
rs532631461
|
0.00001
|
NM_001868.4(CPA1):c.201G>T (p.Val67=)
|
rs559471767
|
0.00001
|
NM_001868.4(CPA1):c.221C>T (p.Ala74Val)
|
rs149470727
|
0.00001
|
NM_001868.4(CPA1):c.222G>T (p.Ala74=)
|
rs781880789
|
0.00001
|
NM_001868.4(CPA1):c.273G>A (p.Glu91=)
|
rs371709718
|
0.00001
|
NM_001868.4(CPA1):c.284C>T (p.Ser95Leu)
|
rs375929600
|
0.00001
|
NM_001868.4(CPA1):c.2T>C (p.Met1Thr)
|
rs142127319
|
0.00001
|
NM_001868.4(CPA1):c.322C>T (p.Arg108Trp)
|
rs141886698
|
0.00001
|
NM_001868.4(CPA1):c.330G>T (p.Arg110=)
|
rs1260418233
|
0.00001
|
NM_001868.4(CPA1):c.346A>G (p.Thr116Ala)
|
rs368581566
|
0.00001
|
NM_001868.4(CPA1):c.36G>A (p.Gly12=)
|
rs782329501
|
0.00001
|
NM_001868.4(CPA1):c.397G>C (p.Asp133His)
|
rs1375640783
|
0.00001
|
NM_001868.4(CPA1):c.401T>G (p.Leu134Arg)
|
rs781977220
|
0.00001
|
NM_001868.4(CPA1):c.405G>C (p.Leu135=)
|
rs1554411309
|
0.00001
|
NM_001868.4(CPA1):c.40G>C (p.Val14Leu)
|
rs1378007993
|
0.00001
|
NM_001868.4(CPA1):c.446G>C (p.Gly149Ala)
|
rs782168130
|
0.00001
|
NM_001868.4(CPA1):c.496G>A (p.Gly166Ser)
|
rs782645228
|
0.00001
|
NM_001868.4(CPA1):c.4C>T (p.Arg2Trp)
|
rs541913287
|
0.00001
|
NM_001868.4(CPA1):c.522C>T (p.Ile174=)
|
rs1554411490
|
0.00001
|
NM_001868.4(CPA1):c.582G>A (p.Lys194=)
|
rs782749933
|
0.00001
|
NM_001868.4(CPA1):c.607G>A (p.Asp203Asn)
|
rs782589138
|
0.00001
|
NM_001868.4(CPA1):c.66-11A>T
|
rs782638392
|
0.00001
|
NM_001868.4(CPA1):c.686C>T (p.Thr229Met)
|
rs781815975
|
0.00001
|
NM_001868.4(CPA1):c.692G>A (p.Ser231Asn)
|
rs782577921
|
0.00001
|
NM_001868.4(CPA1):c.696+5C>T
|
rs528877594
|
0.00001
|
NM_001868.4(CPA1):c.751G>A (p.Val251Met)
|
rs782158803
|
0.00001
|
NM_001868.4(CPA1):c.759C>G (p.Pro253=)
|
rs201117743
|
0.00001
|
NM_001868.4(CPA1):c.787T>C (p.Leu263=)
|
rs782458397
|
0.00001
|
NM_001868.4(CPA1):c.793G>A (p.Gly265Arg)
|
rs782588903
|
0.00001
|
NM_001868.4(CPA1):c.796G>C (p.Ala266Pro)
|
rs1321257803
|
0.00001
|
NM_001868.4(CPA1):c.80G>A (p.Arg27Gln)
|
rs547564304
|
0.00001
|
NM_001868.4(CPA1):c.820A>G (p.Thr274Ala)
|
rs781990114
|
0.00001
|
NM_001868.4(CPA1):c.829G>A (p.Gly277Ser)
|
rs782790983
|
0.00001
|
NM_001868.4(CPA1):c.894C>T (p.Asn298=)
|
rs1437424820
|
0.00001
|
NM_001868.4(CPA1):c.-1C>G
|
|
|
NM_001868.4(CPA1):c.-5G>C
|
|
|
NM_001868.4(CPA1):c.1001A>G (p.Lys334Arg)
|
|
|
NM_001868.4(CPA1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001868.4(CPA1):c.1003G>C (p.Ala335Pro)
|
|
|
NM_001868.4(CPA1):c.1006G>T (p.Ala336Ser)
|
|
|
NM_001868.4(CPA1):c.1008T>A (p.Ala336=)
|
|
|
NM_001868.4(CPA1):c.1008T>G (p.Ala336=)
|
|
|
NM_001868.4(CPA1):c.1009G>A (p.Val337Met)
|
|
|
NM_001868.4(CPA1):c.1010T>C (p.Val337Ala)
|
|
|
NM_001868.4(CPA1):c.1011G>A (p.Val337=)
|
|
|
NM_001868.4(CPA1):c.1016C>A (p.Ala339Asp)
|
rs1796467819
|
|
NM_001868.4(CPA1):c.1017C>G (p.Ala339=)
|
|
|
NM_001868.4(CPA1):c.101C>A (p.Ala34Asp)
|
|
|
NM_001868.4(CPA1):c.101C>G (p.Ala34Gly)
|
|
|
NM_001868.4(CPA1):c.1025C>G (p.Ser342Cys)
|
|
|
NM_001868.4(CPA1):c.1025C>T (p.Ser342Phe)
|
|
|
NM_001868.4(CPA1):c.102C>T (p.Ala34=)
|
|
|
NM_001868.4(CPA1):c.1033G>T (p.Gly345Trp)
|
|
|
NM_001868.4(CPA1):c.1035G>A (p.Gly345=)
|
|
|
NM_001868.4(CPA1):c.1035G>C (p.Gly345=)
|
|
|
NM_001868.4(CPA1):c.1041G>A (p.Lys347=)
|
|
|
NM_001868.4(CPA1):c.1041G>C (p.Lys347Asn)
|
|
|
NM_001868.4(CPA1):c.1042T>G (p.Phe348Val)
|
|
|
NM_001868.4(CPA1):c.1047C>T (p.Asn349=)
|
|
|
NM_001868.4(CPA1):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_001868.4(CPA1):c.1050T>C (p.Tyr350=)
|
|
|
NM_001868.4(CPA1):c.1054A>C (p.Ser352Arg)
|
|
|
NM_001868.4(CPA1):c.1058T>G (p.Ile353Ser)
|
|
|
NM_001868.4(CPA1):c.1061T>A (p.Ile354Asn)
|
|
|
NM_001868.4(CPA1):c.1063A>G (p.Lys355Glu)
|
|
|
NM_001868.4(CPA1):c.1069A>G (p.Ile357Val)
|
|
|
NM_001868.4(CPA1):c.1072+1G>T
|
rs782539361
|
|
NM_001868.4(CPA1):c.1073-10C>T
|
rs1554412208
|
|
NM_001868.4(CPA1):c.1073A>G (p.Tyr358Cys)
|
|
|
NM_001868.4(CPA1):c.1074T>C (p.Tyr358=)
|
|
|
NM_001868.4(CPA1):c.1077A>G (p.Gln359=)
|
|
|
NM_001868.4(CPA1):c.1079C>G (p.Ala360Gly)
|
|
|
NM_001868.4(CPA1):c.1089C>G (p.Ser363Arg)
|
|
|
NM_001868.4(CPA1):c.1089C>T (p.Ser363=)
|
rs1554412216
|
|
NM_001868.4(CPA1):c.10T>A (p.Leu4Met)
|
|
|
NM_001868.4(CPA1):c.1100G>A (p.Trp367Ter)
|
|
|
NM_001868.4(CPA1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001868.4(CPA1):c.1105T>C (p.Tyr369His)
|
|
|
NM_001868.4(CPA1):c.1109G>A (p.Ser370Asn)
|
|
|
NM_001868.4(CPA1):c.1109G>T (p.Ser370Ile)
|
|
|
NM_001868.4(CPA1):c.1110C>G (p.Ser370Arg)
|
|
|
NM_001868.4(CPA1):c.1117A>T (p.Ile373Phe)
|
|
|
NM_001868.4(CPA1):c.1122G>A (p.Lys374=)
|
rs1584854234
|
|
NM_001868.4(CPA1):c.1124A>G (p.Tyr375Cys)
|
|
|
NM_001868.4(CPA1):c.1125C>T (p.Tyr375=)
|
|
|
NM_001868.4(CPA1):c.1126T>C (p.Ser376Pro)
|
|
|
NM_001868.4(CPA1):c.1129T>C (p.Phe377Leu)
|
|
|
NM_001868.4(CPA1):c.1130T>C (p.Phe377Ser)
|
|
|
NM_001868.4(CPA1):c.1131C>T (p.Phe377=)
|
|
|
NM_001868.4(CPA1):c.1133C>A (p.Thr378Asn)
|
|
|
NM_001868.4(CPA1):c.1134C>A (p.Thr378=)
|
|
|
NM_001868.4(CPA1):c.1134C>G (p.Thr378=)
|
|
|
NM_001868.4(CPA1):c.1134C>T (p.Thr378=)
|
|
|
NM_001868.4(CPA1):c.1135T>C (p.Phe379Leu)
|
|
|
NM_001868.4(CPA1):c.1137C>A (p.Phe379Leu)
|
rs570466241
|
|
NM_001868.4(CPA1):c.1137C>G (p.Phe379Leu)
|
|
|
NM_001868.4(CPA1):c.1138G>C (p.Glu380Gln)
|
|
|
NM_001868.4(CPA1):c.1141C>G (p.Leu381Val)
|
|
|
NM_001868.4(CPA1):c.1141C>T (p.Leu381Phe)
|
|
|
NM_001868.4(CPA1):c.1142T>A (p.Leu381His)
|
|
|
NM_001868.4(CPA1):c.1143C>G (p.Leu381=)
|
|
|
NM_001868.4(CPA1):c.1149C>T (p.Asp383=)
|
|
|
NM_001868.4(CPA1):c.1151C>G (p.Thr384Ser)
|
|
|
NM_001868.4(CPA1):c.1152T>A (p.Thr384=)
|
|
|
NM_001868.4(CPA1):c.1152T>C (p.Thr384=)
|
|
|
NM_001868.4(CPA1):c.1152T>G (p.Thr384=)
|
|
|
NM_001868.4(CPA1):c.1156C>A (p.Arg386Ser)
|
|
|
NM_001868.4(CPA1):c.1158C>A (p.Arg386=)
|
|
|
NM_001868.4(CPA1):c.1158C>T (p.Arg386=)
|
|
|
NM_001868.4(CPA1):c.115G>A (p.Val39Met)
|
|
|
NM_001868.4(CPA1):c.1161T>C (p.Tyr387=)
|
|
|
NM_001868.4(CPA1):c.1164C>A (p.Gly388=)
|
|
|
NM_001868.4(CPA1):c.1164C>T (p.Gly388=)
|
|
|
NM_001868.4(CPA1):c.116T>C (p.Val39Ala)
|
|
|
NM_001868.4(CPA1):c.1170G>A (p.Leu390=)
|
|
|
NM_001868.4(CPA1):c.1170G>C (p.Leu390=)
|
|
|
NM_001868.4(CPA1):c.1174C>T (p.Pro392Ser)
|
|
|
NM_001868.4(CPA1):c.1177G>C (p.Ala393Pro)
|
|
|
NM_001868.4(CPA1):c.1177G>T (p.Ala393Ser)
|
|
|
NM_001868.4(CPA1):c.1178C>T (p.Ala393Val)
|
|
|
NM_001868.4(CPA1):c.1179C>A (p.Ala393=)
|
|
|
NM_001868.4(CPA1):c.1180T>A (p.Ser394Thr)
|
|
|
NM_001868.4(CPA1):c.1180T>C (p.Ser394Pro)
|
|
|
NM_001868.4(CPA1):c.1182C>T (p.Ser394=)
|
|
|
NM_001868.4(CPA1):c.1185G>T (p.Gln395His)
|
|
|
NM_001868.4(CPA1):c.1186A>T (p.Ile396Phe)
|
|
|
NM_001868.4(CPA1):c.1191C>T (p.Ile397=)
|
|
|
NM_001868.4(CPA1):c.1197A>G (p.Thr399=)
|
|
|
NM_001868.4(CPA1):c.1199C>T (p.Ala400Val)
|
|
|
NM_001868.4(CPA1):c.1201A>C (p.Lys401Gln)
|
|
|
NM_001868.4(CPA1):c.1202A>G (p.Lys401Arg)
|
|
|
NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)
|
|
|
NM_001868.4(CPA1):c.1209G>T (p.Thr403=)
|
|
|
NM_001868.4(CPA1):c.120G>A (p.Lys40=)
|
|
|
NM_001868.4(CPA1):c.1211G>T (p.Trp404Leu)
|
|
|
NM_001868.4(CPA1):c.1212G>C (p.Trp404Cys)
|
rs1554412248
|
|
NM_001868.4(CPA1):c.1213C>T (p.Leu405=)
|
rs1584854358
|
|
NM_001868.4(CPA1):c.1215G>A (p.Leu405=)
|
|
|
NM_001868.4(CPA1):c.1219C>T (p.Leu407Phe)
|
|
|
NM_001868.4(CPA1):c.121G>A (p.Glu41Lys)
|
|
|
NM_001868.4(CPA1):c.1223T>G (p.Leu408Arg)
|
|
|
NM_001868.4(CPA1):c.1224G>A (p.Leu408=)
|
|
|
NM_001868.4(CPA1):c.1226C>A (p.Thr409Asn)
|
|
|
NM_001868.4(CPA1):c.1228_1251dup (p.His417_Pro418insIleMetGluHisThrLeuAsnHis)
|
|
|
NM_001868.4(CPA1):c.1232T>A (p.Met411Lys)
|
|
|
NM_001868.4(CPA1):c.1232T>C (p.Met411Thr)
|
|
|
NM_001868.4(CPA1):c.1233G>T (p.Met411Ile)
|
|
|
NM_001868.4(CPA1):c.1234G>A (p.Glu412Lys)
|
|
|
NM_001868.4(CPA1):c.1234G>C (p.Glu412Gln)
|
|
|
NM_001868.4(CPA1):c.1236G>A (p.Glu412=)
|
|
|
NM_001868.4(CPA1):c.1237C>T (p.His413Tyr)
|
|
|
NM_001868.4(CPA1):c.1238A>G (p.His413Arg)
|
|
|
NM_001868.4(CPA1):c.123G>A (p.Glu41=)
|
|
|
NM_001868.4(CPA1):c.1241C>T (p.Thr414Ile)
|
|
|
NM_001868.4(CPA1):c.1242C>T (p.Thr414=)
|
|
|
NM_001868.4(CPA1):c.1243C>A (p.Leu415Met)
|
|
|
NM_001868.4(CPA1):c.1245G>C (p.Leu415=)
|
|
|
NM_001868.4(CPA1):c.1247A>C (p.Asn416Thr)
|
|
|
NM_001868.4(CPA1):c.1249C>T (p.His417Tyr)
|
|
|
NM_001868.4(CPA1):c.124C>G (p.Leu42Val)
|
|
|
NM_001868.4(CPA1):c.1250A>G (p.His417Arg)
|
|
|
NM_001868.4(CPA1):c.1251C>A (p.His417Gln)
|
|
|
NM_001868.4(CPA1):c.1251C>T (p.His417=)
|
|
|
NM_001868.4(CPA1):c.1252C>G (p.Pro418Ala)
|
|
|
NM_001868.4(CPA1):c.1252C>T (p.Pro418Ser)
|
|
|
NM_001868.4(CPA1):c.1254C>A (p.Pro418=)
|
|
|
NM_001868.4(CPA1):c.1254C>T (p.Pro418=)
|
|
|
NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys)
|
|
|
NM_001868.4(CPA1):c.125T>G (p.Leu42Arg)
|
|
|
NM_001868.4(CPA1):c.126G>A (p.Leu42=)
|
|
|
NM_001868.4(CPA1):c.127G>C (p.Glu43Gln)
|
|
|
NM_001868.4(CPA1):c.130G>A (p.Asp44Asn)
|
|
|
NM_001868.4(CPA1):c.131A>C (p.Asp44Ala)
|
rs968811807
|
|
NM_001868.4(CPA1):c.131A>T (p.Asp44Val)
|
|
|
NM_001868.4(CPA1):c.134T>C (p.Leu45Pro)
|
|
|
NM_001868.4(CPA1):c.136G>A (p.Glu46Lys)
|
|
|
NM_001868.4(CPA1):c.139C>T (p.His47Tyr)
|
|
|
NM_001868.4(CPA1):c.141C>A (p.His47Gln)
|
|
|
NM_001868.4(CPA1):c.142del (p.Leu48fs)
|
|
|
NM_001868.4(CPA1):c.143T>G (p.Leu48Arg)
|
|
|
NM_001868.4(CPA1):c.144G>A (p.Leu48=)
|
|
|
NM_001868.4(CPA1):c.144G>C (p.Leu48=)
|
|
|
NM_001868.4(CPA1):c.146A>G (p.Gln49Arg)
|
|
|
NM_001868.4(CPA1):c.148C>T (p.Leu50=)
|
|
|
NM_001868.4(CPA1):c.149T>G (p.Leu50Arg)
|
|
|
NM_001868.4(CPA1):c.14T>C (p.Leu5Pro)
|
|
|
NM_001868.4(CPA1):c.156C>T (p.Phe52=)
|
|
|
NM_001868.4(CPA1):c.158G>C (p.Trp53Ser)
|
|
|
NM_001868.4(CPA1):c.159G>C (p.Trp53Cys)
|
rs782384499
|
|
NM_001868.4(CPA1):c.15G>A (p.Leu5=)
|
|
|
NM_001868.4(CPA1):c.160C>A (p.Arg54=)
|
rs782645631
|
|
NM_001868.4(CPA1):c.160C>T (p.Arg54Trp)
|
|
|
NM_001868.4(CPA1):c.161G>A (p.Arg54Gln)
|
|
|
NM_001868.4(CPA1):c.163G>T (p.Gly55Trp)
|
|
|
NM_001868.4(CPA1):c.164G>A (p.Gly55Glu)
|
|
|
NM_001868.4(CPA1):c.165G>A (p.Gly55=)
|
rs1126899
|
|
NM_001868.4(CPA1):c.165G>C (p.Gly55=)
|
rs1126899
|
|
NM_001868.4(CPA1):c.165G>T (p.Gly55=)
|
|
|
NM_001868.4(CPA1):c.167C>G (p.Pro56Arg)
|
|
|
NM_001868.4(CPA1):c.16G>C (p.Val6Leu)
|
|
|
NM_001868.4(CPA1):c.171C>T (p.Ala57=)
|
|
|
NM_001868.4(CPA1):c.173A>T (p.His58Leu)
|
|
|
NM_001868.4(CPA1):c.175C>A (p.Pro59Thr)
|
|
|
NM_001868.4(CPA1):c.176C>G (p.Pro59Arg)
|
|
|
NM_001868.4(CPA1):c.178G>A (p.Gly60Ser)
|
|
|
NM_001868.4(CPA1):c.179G>A (p.Gly60Asp)
|
|
|
NM_001868.4(CPA1):c.179G>C (p.Gly60Ala)
|
|
|
NM_001868.4(CPA1):c.179G>T (p.Gly60Val)
|
|
|
NM_001868.4(CPA1):c.17T>C (p.Val6Ala)
|
|
|
NM_001868.4(CPA1):c.182C>A (p.Ser61Tyr)
|
|
|
NM_001868.4(CPA1):c.182C>T (p.Ser61Phe)
|
|
|
NM_001868.4(CPA1):c.183C>G (p.Ser61=)
|
|
|
NM_001868.4(CPA1):c.184C>G (p.Pro62Ala)
|
|
|
NM_001868.4(CPA1):c.186C>T (p.Pro62=)
|
|
|
NM_001868.4(CPA1):c.187A>G (p.Ile63Val)
|
|
|
NM_001868.4(CPA1):c.193G>A (p.Val65Ile)
|
|
|
NM_001868.4(CPA1):c.193G>T (p.Val65Phe)
|
|
|
NM_001868.4(CPA1):c.196C>A (p.Arg66=)
|
|
|
NM_001868.4(CPA1):c.196C>T (p.Arg66Ter)
|
|
|
NM_001868.4(CPA1):c.197G>C (p.Arg66Pro)
|
|
|
NM_001868.4(CPA1):c.199G>A (p.Val67Met)
|
|
|
NM_001868.4(CPA1):c.19T>C (p.Leu7=)
|
|
|
NM_001868.4(CPA1):c.203C>T (p.Pro68Leu)
|
|
|
NM_001868.4(CPA1):c.208C>T (p.Pro70Ser)
|
rs1796406634
|
|
NM_001868.4(CPA1):c.209C>T (p.Pro70Leu)
|
|
|
NM_001868.4(CPA1):c.212G>A (p.Ser71Asn)
|
|
|
NM_001868.4(CPA1):c.213C>T (p.Ser71=)
|
|
|
NM_001868.4(CPA1):c.216C>A (p.Ile72=)
|
|
|
NM_001868.4(CPA1):c.221C>G (p.Ala74Gly)
|
|
|
NM_001868.4(CPA1):c.222G>A (p.Ala74=)
|
|
|
NM_001868.4(CPA1):c.226A>G (p.Lys76Glu)
|
rs1796407106
|
|
NM_001868.4(CPA1):c.228G>C (p.Lys76Asn)
|
|
|
NM_001868.4(CPA1):c.228G>T (p.Lys76Asn)
|
|
|
NM_001868.4(CPA1):c.235C>T (p.Leu79=)
|
|
|
NM_001868.4(CPA1):c.236T>C (p.Leu79Pro)
|
|
|
NM_001868.4(CPA1):c.238G>A (p.Glu80Lys)
|
|
|
NM_001868.4(CPA1):c.23G>T (p.Ser8Ile)
|
rs2117498346
|
|
NM_001868.4(CPA1):c.243C>G (p.Ser81=)
|
|
|
NM_001868.4(CPA1):c.243C>T (p.Ser81=)
|
|
|
NM_001868.4(CPA1):c.246C>A (p.His82Gln)
|
|
|
NM_001868.4(CPA1):c.246C>T (p.His82=)
|
|
|
NM_001868.4(CPA1):c.247G>A (p.Gly83Ser)
|
|
|
NM_001868.4(CPA1):c.247G>C (p.Gly83Arg)
|
|
|
NM_001868.4(CPA1):c.249C>T (p.Gly83=)
|
|
|
NM_001868.4(CPA1):c.257A>G (p.Tyr86Cys)
|
|
|
NM_001868.4(CPA1):c.261G>A (p.Glu87=)
|
|
|
NM_001868.4(CPA1):c.263C>T (p.Thr88Ile)
|
|
|
NM_001868.4(CPA1):c.265A>G (p.Met89Val)
|
|
|
NM_001868.4(CPA1):c.269T>C (p.Ile90Thr)
|
|
|
NM_001868.4(CPA1):c.270C>G (p.Ile90Met)
|
|
|
NM_001868.4(CPA1):c.270C>T (p.Ile90=)
|
|
|
NM_001868.4(CPA1):c.272A>G (p.Glu91Gly)
|
|
|
NM_001868.4(CPA1):c.276C>T (p.Asp92=)
|
rs782248092
|
|
NM_001868.4(CPA1):c.277G>A (p.Val93Met)
|
|
|
NM_001868.4(CPA1):c.277G>T (p.Val93Leu)
|
|
|
NM_001868.4(CPA1):c.279G>A (p.Val93=)
|
|
|
NM_001868.4(CPA1):c.27C>G (p.Val9=)
|
|
|
NM_001868.4(CPA1):c.282G>A (p.Gln94=)
|
|
|
NM_001868.4(CPA1):c.285G>A (p.Ser95=)
|
|
|
NM_001868.4(CPA1):c.288G>C (p.Leu96=)
|
|
|
NM_001868.4(CPA1):c.290T>C (p.Leu97Pro)
|
|
|
NM_001868.4(CPA1):c.290T>G (p.Leu97Arg)
|
|
|
NM_001868.4(CPA1):c.291G>A (p.Leu97=)
|
rs2117500459
|
|
NM_001868.4(CPA1):c.293A>T (p.Asp98Val)
|
|
|
NM_001868.4(CPA1):c.294C>G (p.Asp98Glu)
|
|
|
NM_001868.4(CPA1):c.294C>T (p.Asp98=)
|
|
|
NM_001868.4(CPA1):c.297G>A (p.Glu99=)
|
|
|
NM_001868.4(CPA1):c.297G>C (p.Glu99Asp)
|
|
|
NM_001868.4(CPA1):c.298G>A (p.Glu100Lys)
|
rs900864227
|
|
NM_001868.4(CPA1):c.298GAGCAG[3] (p.Gln103_Met104insGluGln)
|
|
|
NM_001868.4(CPA1):c.2_8delinsGCA (p.Met1fs)
|
|
|
NM_001868.4(CPA1):c.300G>A (p.Glu100=)
|
|
|
NM_001868.4(CPA1):c.304G>A (p.Glu102Lys)
|
|
|
NM_001868.4(CPA1):c.306del (p.Glu102fs)
|
|
|
NM_001868.4(CPA1):c.307C>G (p.Gln103Glu)
|
|
|
NM_001868.4(CPA1):c.307C>T (p.Gln103Ter)
|
rs997840503
|
|
NM_001868.4(CPA1):c.308A>G (p.Gln103Arg)
|
|
|
NM_001868.4(CPA1):c.309G>A (p.Gln103=)
|
|
|
NM_001868.4(CPA1):c.309G>C (p.Gln103His)
|
|
|
NM_001868.4(CPA1):c.30G>A (p.Leu10=)
|
|
|
NM_001868.4(CPA1):c.30G>C (p.Leu10=)
|
|
|
NM_001868.4(CPA1):c.310A>T (p.Met104Leu)
|
|
|
NM_001868.4(CPA1):c.312G>A (p.Met104Ile)
|
|
|
NM_001868.4(CPA1):c.312G>T (p.Met104Ile)
|
|
|
NM_001868.4(CPA1):c.316G>A (p.Ala106Thr)
|
|
|
NM_001868.4(CPA1):c.317C>T (p.Ala106Val)
|
|
|
NM_001868.4(CPA1):c.318C>G (p.Ala106=)
|
|
|
NM_001868.4(CPA1):c.318C>T (p.Ala106=)
|
|
|
NM_001868.4(CPA1):c.31T>C (p.Leu11=)
|
|
|
NM_001868.4(CPA1):c.324G>C (p.Arg108=)
|
|
|
NM_001868.4(CPA1):c.325T>C (p.Ser109Pro)
|
|
|
NM_001868.4(CPA1):c.326C>G (p.Ser109Cys)
|
|
|
NM_001868.4(CPA1):c.327C>T (p.Ser109=)
|
|
|
NM_001868.4(CPA1):c.328C>G (p.Arg110Gly)
|
|
|
NM_001868.4(CPA1):c.329G>T (p.Arg110Leu)
|
|
|
NM_001868.4(CPA1):c.332C>T (p.Ala111Val)
|
|
|
NM_001868.4(CPA1):c.334C>T (p.Arg112Cys)
|
|
|
NM_001868.4(CPA1):c.335G>C (p.Arg112Pro)
|
|
|
NM_001868.4(CPA1):c.336C>T (p.Arg112=)
|
|
|
NM_001868.4(CPA1):c.338C>T (p.Ser113Phe)
|
|
|
NM_001868.4(CPA1):c.33G>T (p.Leu11Phe)
|
|
|
NM_001868.4(CPA1):c.341C>T (p.Thr114Ile)
|
|
|
NM_001868.4(CPA1):c.342C>A (p.Thr114=)
|
|
|
NM_001868.4(CPA1):c.342C>G (p.Thr114=)
|
|
|
NM_001868.4(CPA1):c.342C>T (p.Thr114=)
|
|
|
NM_001868.4(CPA1):c.343G>A (p.Asp115Asn)
|
|
|
NM_001868.4(CPA1):c.343G>C (p.Asp115His)
|
rs782573440
|
|
NM_001868.4(CPA1):c.344A>G (p.Asp115Gly)
|
|
|
NM_001868.4(CPA1):c.344A>T (p.Asp115Val)
|
|
|
NM_001868.4(CPA1):c.345C>T (p.Asp115=)
|
rs2117500618
|
|
NM_001868.4(CPA1):c.347C>G (p.Thr116Ser)
|
|
|
NM_001868.4(CPA1):c.348T>A (p.Thr116=)
|
|
|
NM_001868.4(CPA1):c.348T>C (p.Thr116=)
|
|
|
NM_001868.4(CPA1):c.350T>C (p.Phe117Ser)
|
|
|
NM_001868.4(CPA1):c.353A>G (p.Asn118Ser)
|
|
|
NM_001868.4(CPA1):c.355T>C (p.Tyr119His)
|
|
|
NM_001868.4(CPA1):c.356A>C (p.Tyr119Ser)
|
|
|
NM_001868.4(CPA1):c.356A>G (p.Tyr119Cys)
|
|
|
NM_001868.4(CPA1):c.357C>T (p.Tyr119=)
|
|
|
NM_001868.4(CPA1):c.359C>T (p.Ala120Val)
|
|
|
NM_001868.4(CPA1):c.364T>A (p.Tyr122Asn)
|
|
|
NM_001868.4(CPA1):c.368A>G (p.His123Arg)
|
|
|
NM_001868.4(CPA1):c.369C>T (p.His123=)
|
|
|
NM_001868.4(CPA1):c.370A>C (p.Thr124Pro)
|
|
|
NM_001868.4(CPA1):c.371C>A (p.Thr124Asn)
|
|
|
NM_001868.4(CPA1):c.373C>T (p.Leu125=)
|
|
|
NM_001868.4(CPA1):c.374T>G (p.Leu125Arg)
|
|
|
NM_001868.4(CPA1):c.376G>A (p.Glu126Lys)
|
|
|
NM_001868.4(CPA1):c.37G>A (p.Ala13Thr)
|
|
|
NM_001868.4(CPA1):c.380A>G (p.Glu127Gly)
|
|
|
NM_001868.4(CPA1):c.382-4T>A
|
|
|
NM_001868.4(CPA1):c.382A>G (p.Ile128Val)
|
|
|
NM_001868.4(CPA1):c.385T>C (p.Tyr129His)
|
|
|
NM_001868.4(CPA1):c.386A>G (p.Tyr129Cys)
|
|
|
NM_001868.4(CPA1):c.387T>C (p.Tyr129=)
|
|
|
NM_001868.4(CPA1):c.389A>C (p.Asp130Ala)
|
rs782428216
|
|
NM_001868.4(CPA1):c.389A>T (p.Asp130Val)
|
|
|
NM_001868.4(CPA1):c.395T>A (p.Leu132Gln)
|
|
|
NM_001868.4(CPA1):c.400C>A (p.Leu134Met)
|
|
|
NM_001868.4(CPA1):c.400C>G (p.Leu134Val)
|
|
|
NM_001868.4(CPA1):c.401del (p.Leu134fs)
|
rs1554411307
|
|
NM_001868.4(CPA1):c.405G>A (p.Leu135=)
|
|
|
NM_001868.4(CPA1):c.406G>A (p.Val136Met)
|
|
|
NM_001868.4(CPA1):c.406G>C (p.Val136Leu)
|
|
|
NM_001868.4(CPA1):c.408G>A (p.Val136=)
|
|
|
NM_001868.4(CPA1):c.409G>A (p.Ala137Thr)
|
rs1418197645
|
|
NM_001868.4(CPA1):c.410C>G (p.Ala137Gly)
|
rs183429188
|
|
NM_001868.4(CPA1):c.411G>A (p.Ala137=)
|
|
|
NM_001868.4(CPA1):c.411G>C (p.Ala137=)
|
|
|
NM_001868.4(CPA1):c.412G>A (p.Glu138Lys)
|
|
|
NM_001868.4(CPA1):c.414G>A (p.Glu138=)
|
|
|
NM_001868.4(CPA1):c.419C>A (p.Pro140Gln)
|
|
|
NM_001868.4(CPA1):c.419C>G (p.Pro140Arg)
|
|
|
NM_001868.4(CPA1):c.420G>A (p.Pro140=)
|
|
|
NM_001868.4(CPA1):c.420G>C (p.Pro140=)
|
|
|
NM_001868.4(CPA1):c.420G>T (p.Pro140=)
|
|
|
NM_001868.4(CPA1):c.421C>A (p.His141Asn)
|
|
|
NM_001868.4(CPA1):c.421C>T (p.His141Tyr)
|
rs1584851048
|
|
NM_001868.4(CPA1):c.423C>G (p.His141Gln)
|
|
|
NM_001868.4(CPA1):c.423C>T (p.His141=)
|
|
|
NM_001868.4(CPA1):c.424C>T (p.Leu142Phe)
|
|
|
NM_001868.4(CPA1):c.428T>A (p.Val143Asp)
|
|
|
NM_001868.4(CPA1):c.429C>T (p.Val143=)
|
|
|
NM_001868.4(CPA1):c.42C>A (p.Val14=)
|
|
|
NM_001868.4(CPA1):c.42C>T (p.Val14=)
|
|
|
NM_001868.4(CPA1):c.431G>T (p.Ser144Ile)
|
|
|
NM_001868.4(CPA1):c.432C>G (p.Ser144Arg)
|
rs2117501364
|
|
NM_001868.4(CPA1):c.434A>G (p.Lys145Arg)
|
|
|
NM_001868.4(CPA1):c.435G>A (p.Lys145=)
|
|
|
NM_001868.4(CPA1):c.443T>C (p.Ile148Thr)
|
|
|
NM_001868.4(CPA1):c.444T>G (p.Ile148Met)
|
|
|
NM_001868.4(CPA1):c.446G>A (p.Gly149Asp)
|
|
|
NM_001868.4(CPA1):c.447C>T (p.Gly149=)
|
|
|
NM_001868.4(CPA1):c.448A>C (p.Asn150His)
|
|
|
NM_001868.4(CPA1):c.451A>G (p.Thr151Ala)
|
|
|
NM_001868.4(CPA1):c.453C>T (p.Thr151=)
|
|
|
NM_001868.4(CPA1):c.455A>G (p.Tyr152Cys)
|
|
|
NM_001868.4(CPA1):c.456T>C (p.Tyr152=)
|
|
|
NM_001868.4(CPA1):c.459A>C (p.Glu153Asp)
|
|
|
NM_001868.4(CPA1):c.459A>G (p.Glu153=)
|
|
|
NM_001868.4(CPA1):c.45T>C (p.Phe15=)
|
|
|
NM_001868.4(CPA1):c.461G>A (p.Gly154Glu)
|
|
|
NM_001868.4(CPA1):c.461G>C (p.Gly154Ala)
|
|
|
NM_001868.4(CPA1):c.462G>T (p.Gly154=)
|
|
|
NM_001868.4(CPA1):c.463C>G (p.Arg155Gly)
|
|
|
NM_001868.4(CPA1):c.463C>T (p.Arg155Cys)
|
|
|
NM_001868.4(CPA1):c.464G>A (p.Arg155His)
|
|
|
NM_001868.4(CPA1):c.465T>C (p.Arg155=)
|
|
|
NM_001868.4(CPA1):c.467C>G (p.Pro156Arg)
|
|
|
NM_001868.4(CPA1):c.468C>T (p.Pro156=)
|
|
|
NM_001868.4(CPA1):c.469A>C (p.Ile157Leu)
|
|
|
NM_001868.4(CPA1):c.471T>C (p.Ile157=)
|
|
|
NM_001868.4(CPA1):c.473A>G (p.Tyr158Cys)
|
|
|
NM_001868.4(CPA1):c.475G>A (p.Val159Met)
|
|
|
NM_001868.4(CPA1):c.480G>A (p.Leu160=)
|
|
|
NM_001868.4(CPA1):c.480G>T (p.Leu160=)
|
|
|
NM_001868.4(CPA1):c.482A>T (p.Lys161Met)
|
|
|
NM_001868.4(CPA1):c.488G>A (p.Ser163Asn)
|
|
|
NM_001868.4(CPA1):c.489C>T (p.Ser163=)
|
|
|
NM_001868.4(CPA1):c.490A>T (p.Thr164Ser)
|
|
|
NM_001868.4(CPA1):c.492G>C (p.Thr164=)
|
|
|
NM_001868.4(CPA1):c.492G>T (p.Thr164=)
|
|
|
NM_001868.4(CPA1):c.493G>A (p.Gly165Arg)
|
|
|
NM_001868.4(CPA1):c.494G>A (p.Gly165Glu)
|
rs200317425
|
|
NM_001868.4(CPA1):c.494G>C (p.Gly165Ala)
|
|
|
NM_001868.4(CPA1):c.494G>T (p.Gly165Val)
|
|
|
NM_001868.4(CPA1):c.495G>A (p.Gly165=)
|
|
|
NM_001868.4(CPA1):c.496G>T (p.Gly166Cys)
|
|
|
NM_001868.4(CPA1):c.499A>G (p.Ser167Gly)
|
|
|
NM_001868.4(CPA1):c.49A>C (p.Lys17Gln)
|
|
|
NM_001868.4(CPA1):c.500G>A (p.Ser167Asn)
|
|
|
NM_001868.4(CPA1):c.503A>C (p.Lys168Thr)
|
|
|
NM_001868.4(CPA1):c.503A>G (p.Lys168Arg)
|
|
|
NM_001868.4(CPA1):c.504G>T (p.Lys168Asn)
|
|
|
NM_001868.4(CPA1):c.505C>T (p.Arg169Cys)
|
|
|
NM_001868.4(CPA1):c.513C>T (p.Ala171=)
|
|
|
NM_001868.4(CPA1):c.514A>G (p.Ile172Val)
|
|
|
NM_001868.4(CPA1):c.51G>A (p.Lys17=)
|
|
|
NM_001868.4(CPA1):c.520A>T (p.Ile174Phe)
|
|
|
NM_001868.4(CPA1):c.526A>C (p.Thr176Pro)
|
|
|
NM_001868.4(CPA1):c.528G>A (p.Thr176=)
|
|
|
NM_001868.4(CPA1):c.528G>T (p.Thr176=)
|
|
|
NM_001868.4(CPA1):c.530del (p.Gly177fs)
|
|
|
NM_001868.4(CPA1):c.531C>A (p.Gly177=)
|
|
|
NM_001868.4(CPA1):c.531C>T (p.Gly177=)
|
|
|
NM_001868.4(CPA1):c.532A>C (p.Ile178Leu)
|
|
|
NM_001868.4(CPA1):c.532A>G (p.Ile178Val)
|
|
|
NM_001868.4(CPA1):c.535C>T (p.His179Tyr)
|
|
|
NM_001868.4(CPA1):c.536A>G (p.His179Arg)
|
|
|
NM_001868.4(CPA1):c.537T>C (p.His179=)
|
|
|
NM_001868.4(CPA1):c.539C>T (p.Ser180Phe)
|
|
|
NM_001868.4(CPA1):c.540C>T (p.Ser180=)
|
|
|
NM_001868.4(CPA1):c.541C>T (p.Arg181Trp)
|
|
|
NM_001868.4(CPA1):c.543G>A (p.Arg181=)
|
|
|
NM_001868.4(CPA1):c.545A>T (p.Glu182Val)
|
|
|
NM_001868.4(CPA1):c.546G>A (p.Glu182=)
|
rs2117503222
|
|
NM_001868.4(CPA1):c.547T>G (p.Trp183Gly)
|
|
|
NM_001868.4(CPA1):c.548G>T (p.Trp183Leu)
|
|
|
NM_001868.4(CPA1):c.54G>C (p.Glu18Asp)
|
|
|
NM_001868.4(CPA1):c.551T>C (p.Val184Ala)
|
|
|
NM_001868.4(CPA1):c.552C>T (p.Val184=)
|
|
|
NM_001868.4(CPA1):c.554C>T (p.Thr185Ile)
|
|
|
NM_001868.4(CPA1):c.555C>G (p.Thr185=)
|
|
|
NM_001868.4(CPA1):c.555C>T (p.Thr185=)
|
|
|
NM_001868.4(CPA1):c.557A>C (p.Gln186Pro)
|
|
|
NM_001868.4(CPA1):c.559G>A (p.Ala187Thr)
|
|
|
NM_001868.4(CPA1):c.564T>C (p.Ser188=)
|
|
|
NM_001868.4(CPA1):c.567G>A (p.Gly189=)
|
|
|
NM_001868.4(CPA1):c.570C>G (p.Val190=)
|
|
|
NM_001868.4(CPA1):c.573G>T (p.Trp191Cys)
|
|
|
NM_001868.4(CPA1):c.577G>T (p.Ala193Ser)
|
|
|
NM_001868.4(CPA1):c.57C>T (p.Asp19=)
|
|
|
NM_001868.4(CPA1):c.581A>G (p.Lys194Arg)
|
|
|
NM_001868.4(CPA1):c.586-1G>T
|
|
|
NM_001868.4(CPA1):c.589A>C (p.Thr197Pro)
|
|
|
NM_001868.4(CPA1):c.591T>C (p.Thr197=)
|
|
|
NM_001868.4(CPA1):c.592C>G (p.Gln198Glu)
|
|
|
NM_001868.4(CPA1):c.595G>A (p.Asp199Asn)
|
|
|
NM_001868.4(CPA1):c.597C>T (p.Asp199=)
|
|
|
NM_001868.4(CPA1):c.598T>C (p.Tyr200His)
|
|
|
NM_001868.4(CPA1):c.599_600delinsG (p.Tyr200fs)
|
rs1584851947
|
|
NM_001868.4(CPA1):c.5G>C (p.Arg2Pro)
|
|
|
NM_001868.4(CPA1):c.600C>T (p.Tyr200=)
|
rs12706927
|
|
NM_001868.4(CPA1):c.601G>A (p.Gly201Arg)
|
|
|
NM_001868.4(CPA1):c.601G>C (p.Gly201Arg)
|
|
|
NM_001868.4(CPA1):c.601G>T (p.Gly201Trp)
|
|
|
NM_001868.4(CPA1):c.602G>T (p.Gly201Val)
|
|
|
NM_001868.4(CPA1):c.60T>C (p.Phe20=)
|
|
|
NM_001868.4(CPA1):c.611C>A (p.Ala204Glu)
|
|
|
NM_001868.4(CPA1):c.612A>C (p.Ala204=)
|
|
|
NM_001868.4(CPA1):c.614C>T (p.Ala205Val)
|
|
|
NM_001868.4(CPA1):c.615T>G (p.Ala205=)
|
|
|
NM_001868.4(CPA1):c.618C>A (p.Phe206Leu)
|
|
|
NM_001868.4(CPA1):c.619A>C (p.Thr207Pro)
|
|
|
NM_001868.4(CPA1):c.61G>C (p.Val21Leu)
|
|
|
NM_001868.4(CPA1):c.625A>G (p.Ile209Val)
|
|
|
NM_001868.4(CPA1):c.626T>C (p.Ile209Thr)
|
|
|
NM_001868.4(CPA1):c.626T>G (p.Ile209Ser)
|
|
|
NM_001868.4(CPA1):c.627T>C (p.Ile209=)
|
|
|
NM_001868.4(CPA1):c.629T>A (p.Leu210His)
|
|
|
NM_001868.4(CPA1):c.630C>G (p.Leu210=)
|
|
|
NM_001868.4(CPA1):c.631G>A (p.Asp211Asn)
|
|
|
NM_001868.4(CPA1):c.633C>T (p.Asp211=)
|
rs1554411582
|
|
NM_001868.4(CPA1):c.635C>A (p.Thr212Asn)
|
rs540251433
|
|
NM_001868.4(CPA1):c.635C>G (p.Thr212Ser)
|
rs540251433
|
|
NM_001868.4(CPA1):c.637T>C (p.Leu213=)
|
|
|
NM_001868.4(CPA1):c.637T>G (p.Leu213Val)
|
|
|
NM_001868.4(CPA1):c.638T>G (p.Leu213Trp)
|
|
|
NM_001868.4(CPA1):c.63G>A (p.Val21=)
|
|
|
NM_001868.4(CPA1):c.63G>C (p.Val21=)
|
|
|
NM_001868.4(CPA1):c.643A>C (p.Ile215Leu)
|
|
|
NM_001868.4(CPA1):c.643A>G (p.Ile215Val)
|
|
|
NM_001868.4(CPA1):c.644T>C (p.Ile215Thr)
|
|
|
NM_001868.4(CPA1):c.648C>T (p.Phe216=)
|
|
|
NM_001868.4(CPA1):c.649C>A (p.Leu217Met)
|
|
|
NM_001868.4(CPA1):c.649C>T (p.Leu217=)
|
|
|
NM_001868.4(CPA1):c.64G>A (p.Gly22Arg)
|
|
|
NM_001868.4(CPA1):c.64G>C (p.Gly22Arg)
|
|
|
NM_001868.4(CPA1):c.650T>C (p.Leu217Pro)
|
|
|
NM_001868.4(CPA1):c.654G>A (p.Glu218=)
|
|
|
NM_001868.4(CPA1):c.655A>T (p.Ile219Phe)
|
|
|
NM_001868.4(CPA1):c.656T>C (p.Ile219Thr)
|
|
|
NM_001868.4(CPA1):c.657C>A (p.Ile219=)
|
|
|
NM_001868.4(CPA1):c.657C>G (p.Ile219Met)
|
rs1057524778
|
|
NM_001868.4(CPA1):c.657C>T (p.Ile219=)
|
rs1057524778
|
|
NM_001868.4(CPA1):c.658G>A (p.Val220Ile)
|
|
|
NM_001868.4(CPA1):c.658G>C (p.Val220Leu)
|
|
|
NM_001868.4(CPA1):c.65G>C (p.Gly22Ala)
|
|
|
NM_001868.4(CPA1):c.66-3C>T
|
|
|
NM_001868.4(CPA1):c.660C>T (p.Val220=)
|
|
|
NM_001868.4(CPA1):c.661A>G (p.Thr221Ala)
|
|
|
NM_001868.4(CPA1):c.662C>T (p.Thr221Ile)
|
|
|
NM_001868.4(CPA1):c.665A>T (p.Asn222Ile)
|
|
|
NM_001868.4(CPA1):c.670G>A (p.Asp224Asn)
|
|
|
NM_001868.4(CPA1):c.674G>C (p.Gly225Ala)
|
|
|
NM_001868.4(CPA1):c.674G>T (p.Gly225Val)
|
|
|
NM_001868.4(CPA1):c.681C>T (p.Ala227=)
|
|
|
NM_001868.4(CPA1):c.685A>C (p.Thr229Pro)
|
|
|
NM_001868.4(CPA1):c.686C>A (p.Thr229Lys)
|
rs781815975
|
|
NM_001868.4(CPA1):c.687G>A (p.Thr229=)
|
|
|
NM_001868.4(CPA1):c.687G>T (p.Thr229=)
|
|
|
NM_001868.4(CPA1):c.690C>T (p.His230=)
|
|
|
NM_001868.4(CPA1):c.696+6G>A
|
rs1046847986
|
|
NM_001868.4(CPA1):c.697A>C (p.Asn233His)
|
|
|
NM_001868.4(CPA1):c.697A>G (p.Asn233Asp)
|
|
|
NM_001868.4(CPA1):c.69T>C (p.His23=)
|
|
|
NM_001868.4(CPA1):c.700C>G (p.Arg234Gly)
|
|
|
NM_001868.4(CPA1):c.700C>T (p.Arg234Cys)
|
|
|
NM_001868.4(CPA1):c.701G>A (p.Arg234His)
|
|
|
NM_001868.4(CPA1):c.701G>T (p.Arg234Leu)
|
|
|
NM_001868.4(CPA1):c.703A>G (p.Met235Val)
|
|
|
NM_001868.4(CPA1):c.704T>A (p.Met235Lys)
|
|
|
NM_001868.4(CPA1):c.704T>G (p.Met235Arg)
|
|
|
NM_001868.4(CPA1):c.706T>A (p.Trp236Arg)
|
|
|
NM_001868.4(CPA1):c.706T>C (p.Trp236Arg)
|
|
|
NM_001868.4(CPA1):c.710G>T (p.Arg237Leu)
|
|
|
NM_001868.4(CPA1):c.715A>G (p.Thr239Ala)
|
|
|
NM_001868.4(CPA1):c.716C>G (p.Thr239Ser)
|
|
|
NM_001868.4(CPA1):c.716C>T (p.Thr239Ile)
|
|
|
NM_001868.4(CPA1):c.717T>A (p.Thr239=)
|
|
|
NM_001868.4(CPA1):c.718C>G (p.Arg240Gly)
|
|
|
NM_001868.4(CPA1):c.721T>A (p.Ser241Thr)
|
|
|
NM_001868.4(CPA1):c.722C>G (p.Ser241Cys)
|
|
|
NM_001868.4(CPA1):c.724C>A (p.His242Asn)
|
|
|
NM_001868.4(CPA1):c.724C>T (p.His242Tyr)
|
|
|
NM_001868.4(CPA1):c.728C>T (p.Thr243Ile)
|
|
|
NM_001868.4(CPA1):c.730G>A (p.Ala244Thr)
|
|
|
NM_001868.4(CPA1):c.731C>T (p.Ala244Val)
|
|
|
NM_001868.4(CPA1):c.734G>A (p.Gly245Asp)
|
|
|
NM_001868.4(CPA1):c.738C>T (p.Ser246=)
|
|
|
NM_001868.4(CPA1):c.739C>G (p.Leu247Val)
|
|
|
NM_001868.4(CPA1):c.739C>T (p.Leu247Phe)
|
|
|
NM_001868.4(CPA1):c.740T>C (p.Leu247Pro)
|
|
|
NM_001868.4(CPA1):c.741C>A (p.Leu247=)
|
|
|
NM_001868.4(CPA1):c.745A>G (p.Ile249Val)
|
|
|
NM_001868.4(CPA1):c.746T>C (p.Ile249Thr)
|
|
|
NM_001868.4(CPA1):c.750C>T (p.Gly250=)
|
|
|
NM_001868.4(CPA1):c.751G>C (p.Val251Leu)
|
rs782158803
|
|
NM_001868.4(CPA1):c.754G>C (p.Asp252His)
|
|
|
NM_001868.4(CPA1):c.755A>G (p.Asp252Gly)
|
|
|
NM_001868.4(CPA1):c.756C>A (p.Asp252Glu)
|
|
|
NM_001868.4(CPA1):c.756C>T (p.Asp252=)
|
|
|
NM_001868.4(CPA1):c.759C>A (p.Pro253=)
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NM_001868.4(CPA1):c.75G>A (p.Val25=)
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NM_001868.4(CPA1):c.75G>C (p.Val25=)
|
rs1277023753
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NM_001868.4(CPA1):c.761A>G (p.Asn254Ser)
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NM_001868.4(CPA1):c.762C>A (p.Asn254Lys)
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NM_001868.4(CPA1):c.762C>T (p.Asn254=)
|
rs1554411739
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NM_001868.4(CPA1):c.763A>G (p.Arg255Gly)
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NM_001868.4(CPA1):c.763A>T (p.Arg255Trp)
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rs782085292
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NM_001868.4(CPA1):c.767A>G (p.Asn256Ser)
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NM_001868.4(CPA1):c.76C>G (p.Leu26Val)
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NM_001868.4(CPA1):c.771G>C (p.Trp257Cys)
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NM_001868.4(CPA1):c.774C>A (p.Asp258Glu)
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NM_001868.4(CPA1):c.775G>T (p.Ala259Ser)
|
rs369665148
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NM_001868.4(CPA1):c.779G>A (p.Gly260Asp)
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rs1554411743
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NM_001868.4(CPA1):c.779G>T (p.Gly260Val)
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NM_001868.4(CPA1):c.77T>G (p.Leu26Arg)
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NM_001868.4(CPA1):c.786G>A (p.Gly262=)
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NM_001868.4(CPA1):c.787+2T>A
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NM_001868.4(CPA1):c.788-3C>G
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NM_001868.4(CPA1):c.788-4A>C
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NM_001868.4(CPA1):c.788-5C>A
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rs201705049
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NM_001868.4(CPA1):c.788-5C>G
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rs201705049
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NM_001868.4(CPA1):c.788-5C>T
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NM_001868.4(CPA1):c.789G>A (p.Leu263=)
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NM_001868.4(CPA1):c.792C>G (p.Ser264=)
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rs782313134
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NM_001868.4(CPA1):c.794G>A (p.Gly265Glu)
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NM_001868.4(CPA1):c.795A>G (p.Gly265=)
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NM_001868.4(CPA1):c.798C>T (p.Ala266=)
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NM_001868.4(CPA1):c.79C>A (p.Arg27=)
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NM_001868.4(CPA1):c.800G>T (p.Ser267Ile)
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NM_001868.4(CPA1):c.807C>A (p.Asn269Lys)
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NM_001868.4(CPA1):c.807C>T (p.Asn269=)
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NM_001868.4(CPA1):c.808C>T (p.Pro270Ser)
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NM_001868.4(CPA1):c.811T>G (p.Cys271Gly)
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NM_001868.4(CPA1):c.814T>G (p.Ser272Ala)
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NM_001868.4(CPA1):c.816G>C (p.Ser272=)
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NM_001868.4(CPA1):c.817G>A (p.Glu273Lys)
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NM_001868.4(CPA1):c.819G>C (p.Glu273Asp)
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NM_001868.4(CPA1):c.819G>T (p.Glu273Asp)
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NM_001868.4(CPA1):c.821C>T (p.Thr274Ile)
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NM_001868.4(CPA1):c.823T>C (p.Tyr275His)
|
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NM_001868.4(CPA1):c.824A>G (p.Tyr275Cys)
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NM_001868.4(CPA1):c.828C>T (p.His276=)
|
rs781912694
|
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NM_001868.4(CPA1):c.830G>T (p.Gly277Val)
|
|
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NM_001868.4(CPA1):c.834G>A (p.Lys278=)
|
rs201936657
|
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NM_001868.4(CPA1):c.834G>C (p.Lys278Asn)
|
rs201936657
|
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NM_001868.4(CPA1):c.834G>T (p.Lys278Asn)
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|
NM_001868.4(CPA1):c.836T>C (p.Phe279Ser)
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NM_001868.4(CPA1):c.837T>C (p.Phe279=)
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NM_001868.4(CPA1):c.839C>A (p.Ala280Asp)
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NM_001868.4(CPA1):c.839C>T (p.Ala280Val)
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NM_001868.4(CPA1):c.840C>G (p.Ala280=)
|
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NM_001868.4(CPA1):c.842A>C (p.Asn281Thr)
|
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NM_001868.4(CPA1):c.842A>G (p.Asn281Ser)
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NM_001868.4(CPA1):c.845C>T (p.Ser282Phe)
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NM_001868.4(CPA1):c.846C>A (p.Ser282=)
|
rs782496881
|
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NM_001868.4(CPA1):c.846C>T (p.Ser282=)
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NM_001868.4(CPA1):c.84C>A (p.Ile28=)
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NM_001868.4(CPA1):c.84C>T (p.Ile28=)
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NM_001868.4(CPA1):c.850G>A (p.Val284Met)
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NM_001868.4(CPA1):c.851T>C (p.Val284Ala)
|
rs2117505975
|
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NM_001868.4(CPA1):c.851T>G (p.Val284Gly)
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NM_001868.4(CPA1):c.852G>A (p.Val284=)
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NM_001868.4(CPA1):c.852G>T (p.Val284=)
|
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NM_001868.4(CPA1):c.862T>C (p.Ser288Pro)
|
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NM_001868.4(CPA1):c.864C>T (p.Ser288=)
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NM_001868.4(CPA1):c.865A>G (p.Ile289Val)
|
rs782170635
|
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NM_001868.4(CPA1):c.865A>T (p.Ile289Phe)
|
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NM_001868.4(CPA1):c.868G>T (p.Val290Leu)
|
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NM_001868.4(CPA1):c.86C>G (p.Ser29Cys)
|
rs2117499085
|
|
NM_001868.4(CPA1):c.870A>G (p.Val290=)
|
|
|
NM_001868.4(CPA1):c.874T>A (p.Phe292Ile)
|
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|
NM_001868.4(CPA1):c.882G>A (p.Lys294=)
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|
NM_001868.4(CPA1):c.884A>G (p.Asp295Gly)
|
|
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NM_001868.4(CPA1):c.885C>A (p.Asp295Glu)
|
|
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NM_001868.4(CPA1):c.885C>T (p.Asp295=)
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NM_001868.4(CPA1):c.886C>T (p.His296Tyr)
|
|
|
NM_001868.4(CPA1):c.891G>A (p.Gly297=)
|
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|
NM_001868.4(CPA1):c.895A>C (p.Ile299Leu)
|
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|
NM_001868.4(CPA1):c.895A>T (p.Ile299Phe)
|
|
|
NM_001868.4(CPA1):c.8G>T (p.Gly3Val)
|
|
|
NM_001868.4(CPA1):c.8_9dup (p.Leu4fs)
|
|
|
NM_001868.4(CPA1):c.900G>A (p.Lys300=)
|
|
|
NM_001868.4(CPA1):c.900G>T (p.Lys300Asn)
|
|
|
NM_001868.4(CPA1):c.901G>C (p.Ala301Pro)
|
|
|
NM_001868.4(CPA1):c.903C>G (p.Ala301=)
|
|
|
NM_001868.4(CPA1):c.904T>A (p.Phe302Ile)
|
|
|
NM_001868.4(CPA1):c.905T>C (p.Phe302Ser)
|
|
|
NM_001868.4(CPA1):c.906C>T (p.Phe302=)
|
|
|
NM_001868.4(CPA1):c.915C>T (p.Ile305=)
|
|
|
NM_001868.4(CPA1):c.918C>G (p.His306Gln)
|
|
|
NM_001868.4(CPA1):c.918C>T (p.His306=)
|
|
|
NM_001868.4(CPA1):c.920G>T (p.Ser307Ile)
|
|
|
NM_001868.4(CPA1):c.929A>G (p.Gln310Arg)
|
|
|
NM_001868.4(CPA1):c.92C>T (p.Ala31Val)
|
|
|
NM_001868.4(CPA1):c.930G>A (p.Gln310=)
|
|
|
NM_001868.4(CPA1):c.931C>T (p.Leu311Phe)
|
|
|
NM_001868.4(CPA1):c.933C>A (p.Leu311=)
|
|
|
NM_001868.4(CPA1):c.933C>T (p.Leu311=)
|
|
|
NM_001868.4(CPA1):c.936C>A (p.Leu312=)
|
|
|
NM_001868.4(CPA1):c.937A>C (p.Met313Leu)
|
|
|
NM_001868.4(CPA1):c.938T>C (p.Met313Thr)
|
rs2117506089
|
|
NM_001868.4(CPA1):c.938T>G (p.Met313Arg)
|
|
|
NM_001868.4(CPA1):c.939G>A (p.Met313Ile)
|
|
|
NM_001868.4(CPA1):c.93C>G (p.Ala31=)
|
rs565451182
|
|
NM_001868.4(CPA1):c.943C>A (p.Pro315Thr)
|
rs1554411830
|
|
NM_001868.4(CPA1):c.944C>T (p.Pro315Leu)
|
|
|
NM_001868.4(CPA1):c.947A>G (p.Tyr316Cys)
|
|
|
NM_001868.4(CPA1):c.948T>C (p.Tyr316=)
|
|
|
NM_001868.4(CPA1):c.949G>A (p.Gly317Ser)
|
|
|
NM_001868.4(CPA1):c.94G>A (p.Asp32Asn)
|
|
|
NM_001868.4(CPA1):c.953A>G (p.Tyr318Cys)
|
|
|
NM_001868.4(CPA1):c.954_955del (p.Tyr318_Lys319delinsTer)
|
|
|
NM_001868.4(CPA1):c.956A>G (p.Lys319Arg)
|
|
|
NM_001868.4(CPA1):c.958A>G (p.Thr320Ala)
|
|
|
NM_001868.4(CPA1):c.95A>G (p.Asp32Gly)
|
|
|
NM_001868.4(CPA1):c.969C>G (p.Val323=)
|
|
|
NM_001868.4(CPA1):c.96T>C (p.Asp32=)
|
|
|
NM_001868.4(CPA1):c.972T>C (p.Pro324=)
|
|
|
NM_001868.4(CPA1):c.973G>A (p.Asp325Asn)
|
|
|
NM_001868.4(CPA1):c.974A>T (p.Asp325Val)
|
|
|
NM_001868.4(CPA1):c.975C>A (p.Asp325Glu)
|
|
|
NM_001868.4(CPA1):c.981T>G (p.Asp327Glu)
|
|
|
NM_001868.4(CPA1):c.983A>C (p.Glu328Ala)
|
|
|
NM_001868.4(CPA1):c.984G>C (p.Glu328Asp)
|
|
|
NM_001868.4(CPA1):c.985C>T (p.Leu329=)
|
|
|
NM_001868.4(CPA1):c.986del (p.Leu329fs)
|
|
|
NM_001868.4(CPA1):c.988-2A>G
|
|
|
NM_001868.4(CPA1):c.988-3C>T
|
|
|
NM_001868.4(CPA1):c.989A>T (p.Asp330Val)
|
|
|
NM_001868.4(CPA1):c.991C>G (p.Gln331Glu)
|
|
|
NM_001868.4(CPA1):c.999C>T (p.Ser333=)
|
|
|
NM_001868.4(CPA1):c.99G>A (p.Glu33=)
|
|
|
NM_001868.4(CPA1):c.9G>A (p.Gly3=)
|
|
|
NM_001868.4(CPA1):c.9G>T (p.Gly3=)
|
|
|