|
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
|
NM_022132.5(MCCC2):c.738+36G>A
|
rs12516456
|
0.80304
|
|
NM_022132.5(MCCC2):c.*1243G>C
|
rs7731970
|
0.80030
|
|
NM_022132.5(MCCC2):c.*247C>T
|
rs1135667
|
0.78164
|
|
NM_022132.5(MCCC2):c.1575-64A>G
|
rs7443786
|
0.69711
|
|
NM_022132.5(MCCC2):c.803+71C>T
|
rs277981
|
0.41735
|
|
NM_022132.5(MCCC2):c.739-92G>A
|
rs277980
|
0.41731
|
|
NM_022132.5(MCCC2):c.904-12A>G
|
rs277984
|
0.30658
|
|
NM_022132.5(MCCC2):c.*1198C>T
|
rs277975
|
0.28389
|
|
NM_022132.5(MCCC2):c.*593G>T
|
rs60069076
|
0.09309
|
|
NM_022132.5(MCCC2):c.738+132C>T
|
rs77085070
|
0.08077
|
|
NM_022132.5(MCCC2):c.*1573C>G
|
rs112693079
|
0.01960
|
|
NM_022132.5(MCCC2):c.*1351G>A
|
rs144494459
|
0.01269
|
|
NM_022132.5(MCCC2):c.*245T>C
|
rs11551918
|
0.01133
|
|
NM_022132.5(MCCC2):c.*1080G>T
|
rs7727902
|
0.01132
|
|
NM_022132.5(MCCC2):c.*1381A>C
|
rs115650149
|
0.01118
|
|
NM_022132.5(MCCC2):c.1578A>G (p.Val526=)
|
rs114527907
|
0.01062
|
|
NM_022132.5(MCCC2):c.*577T>A
|
rs150412501
|
0.00871
|
|
NM_022132.5(MCCC2):c.-38G>A
|
rs186132078
|
0.00403
|
|
NM_022132.5(MCCC2):c.282-7G>A
|
rs115078899
|
0.00399
|
|
NM_022132.5(MCCC2):c.*526C>T
|
rs181669670
|
0.00339
|
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_022132.5(MCCC2):c.969T>C (p.Ala323=)
|
rs112793062
|
0.00228
|
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
|
NM_022132.5(MCCC2):c.*191A>T
|
rs142332769
|
0.00169
|
|
NM_022132.5(MCCC2):c.*1466T>C
|
rs148015309
|
0.00143
|
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
|
NM_022132.5(MCCC2):c.*819G>A
|
rs565662004
|
0.00100
|
|
NM_022132.5(MCCC2):c.*552C>T
|
rs544574975
|
0.00093
|
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
|
NM_022132.5(MCCC2):c.511+7dup
|
rs200382661
|
0.00068
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_022132.5(MCCC2):c.*773C>T
|
rs1013092369
|
0.00055
|
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
|
NM_022132.5(MCCC2):c.*548C>T
|
rs933207621
|
0.00040
|
|
NM_022132.5(MCCC2):c.*725C>T
|
rs370508668
|
0.00035
|
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
|
NM_022132.5(MCCC2):c.*1297G>A
|
rs547084096
|
0.00033
|
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
|
NM_022132.5(MCCC2):c.*565C>A
|
rs565365607
|
0.00032
|
|
NM_022132.5(MCCC2):c.*714G>A
|
rs562662053
|
0.00030
|
|
NM_022132.5(MCCC2):c.*368T>C
|
rs769233664
|
0.00029
|
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00013
|
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
|
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
|
rs145846295
|
0.00012
|
|
NM_022132.5(MCCC2):c.*941A>G
|
rs537387461
|
0.00011
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
|
NM_022132.5(MCCC2):c.*260T>A
|
rs886060739
|
0.00010
|
|
NM_022132.5(MCCC2):c.*856C>T
|
rs886060744
|
0.00010
|
|
NM_022132.5(MCCC2):c.*1272A>G
|
rs772502944
|
0.00009
|
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
|
NM_022132.5(MCCC2):c.1488+10G>A
|
rs190514867
|
0.00007
|
|
NM_022132.5(MCCC2):c.738+16C>T
|
rs554502924
|
0.00007
|
|
NM_022132.5(MCCC2):c.*1354C>T
|
rs538509005
|
0.00006
|
|
NM_022132.5(MCCC2):c.*699T>C
|
rs886060741
|
0.00006
|
|
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=)
|
rs373146322
|
0.00006
|
|
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
|
rs548725229
|
0.00006
|
|
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=)
|
rs779855532
|
0.00006
|
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
|
NM_022132.5(MCCC2):c.*1649C>T
|
rs539578408
|
0.00005
|
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
|
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=)
|
rs200915932
|
0.00005
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_022132.5(MCCC2):c.72C>T (p.His24=)
|
rs374686220
|
0.00005
|
|
NM_022132.5(MCCC2):c.*378T>A
|
rs535221710
|
0.00004
|
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
|
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
|
rs765801018
|
0.00004
|
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
|
NM_022132.5(MCCC2):c.999+16A>G
|
rs1241526106
|
0.00004
|
|
NM_022132.5(MCCC2):c.*1539G>T
|
rs1031741545
|
0.00003
|
|
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
0.00003
|
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
|
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=)
|
rs1049308310
|
0.00003
|
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
|
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=)
|
rs1266022580
|
0.00003
|
|
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
|
rs137961577
|
0.00003
|
|
NM_022132.5(MCCC2):c.219A>C (p.Ala73=)
|
rs1048291170
|
0.00003
|
|
NM_022132.5(MCCC2):c.25C>T (p.Leu9=)
|
rs1285116638
|
0.00003
|
|
NM_022132.5(MCCC2):c.282-8C>T
|
rs574221691
|
0.00003
|
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
|
NM_022132.5(MCCC2):c.999+8A>G
|
rs575141754
|
0.00003
|
|
NM_022132.5(MCCC2):c.*659C>T
|
rs886060740
|
0.00002
|
|
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
|
rs766440020
|
0.00002
|
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
|
NM_022132.5(MCCC2):c.1216+8A>G
|
rs532313245
|
0.00002
|
|
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
|
rs754213093
|
0.00002
|
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
|
NM_022132.5(MCCC2):c.1373+18C>T
|
rs200716557
|
0.00002
|
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
|
NM_022132.5(MCCC2):c.1574+1G>A
|
rs730880265
|
0.00002
|
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
|
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
|
rs774475879
|
0.00002
|
|
NM_022132.5(MCCC2):c.903+9G>A
|
rs747069963
|
0.00002
|
|
NM_022132.5(MCCC2):c.*1144A>G
|
rs886060747
|
0.00001
|
|
NM_022132.5(MCCC2):c.*719A>G
|
rs986206032
|
0.00001
|
|
NM_022132.5(MCCC2):c.*839T>C
|
rs886060743
|
0.00001
|
|
NM_022132.5(MCCC2):c.*878T>G
|
rs886060745
|
0.00001
|
|
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
|
rs760703487
|
0.00001
|
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
|
NM_022132.5(MCCC2):c.105G>A (p.Pro35=)
|
rs1365918358
|
0.00001
|
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
|
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
|
rs1394757971
|
0.00001
|
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
|
NM_022132.5(MCCC2):c.1216+10T>C
|
rs777129152
|
0.00001
|
|
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
|
rs375010821
|
0.00001
|
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
|
NM_022132.5(MCCC2):c.1374-19C>A
|
rs761903116
|
0.00001
|
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
|
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
|
rs954414863
|
0.00001
|
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
|
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg)
|
rs769558016
|
0.00001
|
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
|
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
|
rs1345577961
|
0.00001
|
|
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
|
rs201279542
|
0.00001
|
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488+9C>T
|
rs1561848361
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
|
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=)
|
rs1747468314
|
0.00001
|
|
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
|
rs146674014
|
0.00001
|
|
NM_022132.5(MCCC2):c.1574+5G>A
|
rs781483923
|
0.00001
|
|
NM_022132.5(MCCC2):c.1574+7G>T
|
rs766044711
|
0.00001
|
|
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)
|
rs766384881
|
0.00001
|
|
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe)
|
rs753443203
|
0.00001
|
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
|
NM_022132.5(MCCC2):c.196+20C>T
|
rs766988420
|
0.00001
|
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
|
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
|
rs1325018619
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+17T>C
|
rs1745350073
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
0.00001
|
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
|
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
|
rs1409261895
|
0.00001
|
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
|
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
|
rs1580281124
|
0.00001
|
|
NM_022132.5(MCCC2):c.51C>G (p.Pro17=)
|
rs1390205513
|
0.00001
|
|
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
|
rs1400921456
|
0.00001
|
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
|
NM_022132.5(MCCC2):c.624+13G>T
|
rs376190037
|
0.00001
|
|
NM_022132.5(MCCC2):c.625-17G>A
|
rs771274447
|
0.00001
|
|
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
|
rs777033953
|
0.00001
|
|
NM_022132.5(MCCC2):c.651C>T (p.Thr217=)
|
rs1380948898
|
0.00001
|
|
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
|
rs1350958601
|
0.00001
|
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
|
NM_022132.5(MCCC2):c.675C>A (p.Ala225=)
|
rs781610298
|
0.00001
|
|
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe)
|
rs531567604
|
0.00001
|
|
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
|
rs1303225809
|
0.00001
|
|
NM_022132.5(MCCC2):c.739-7G>T
|
rs765082065
|
0.00001
|
|
NM_022132.5(MCCC2):c.753T>C (p.Thr251=)
|
rs3736398
|
0.00001
|
|
NM_022132.5(MCCC2):c.798T>C (p.His266=)
|
rs932586663
|
0.00001
|
|
NM_022132.5(MCCC2):c.804-10T>C
|
rs1295275733
|
0.00001
|
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
|
NM_022132.5(MCCC2):c.903+8C>T
|
rs1348079727
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-4G>T
|
rs758885126
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
|
NC_000005.10:g.(?_71587406)_(71656880_?)del
|
|
|
|
NC_000005.10:g.(?_71599649)_(71599770_?)del
|
|
|
|
NC_000005.10:g.(?_71626620)_(71649273_?)del
|
|
|
|
NC_000005.9:g.(?_70808992)_(70952687_?)dup
|
|
|
|
NC_000005.9:g.(?_70892087)_(70892211_?)del
|
|
|
|
NC_000005.9:g.(?_70892097)_(70892201_?)del
|
|
|
|
NC_000005.9:g.(?_70895466)_(70895607_?)del
|
|
|
|
NC_000005.9:g.(?_70895476)_(70900305_?)dup
|
|
|
|
NC_000005.9:g.(?_70898323)_(70900305_?)del
|
|
|
|
NC_000005.9:g.(?_70898323)_(70928022_?)del
|
|
|
|
NC_000005.9:g.(?_70922447)_(70952687_?)del
|
|
|
|
NC_000005.9:g.(?_70922457)_(70922590_?)del
|
|
|
|
NC_000005.9:g.(?_70930773)_(70930871_?)del
|
|
|
|
NC_000005.9:g.(?_70936810)_(70936922_?)del
|
|
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
|
NM_022132.5(MCCC2):c.*1591A>C
|
rs1388895100
|
|
|
NM_022132.5(MCCC2):c.*1650G>A
|
rs902451036
|
|
|
NM_022132.5(MCCC2):c.*16T>A
|
rs1747596046
|
|
|
NM_022132.5(MCCC2):c.*246A>G
|
rs965261367
|
|
|
NM_022132.5(MCCC2):c.*700G>T
|
rs972036465
|
|
|
NM_022132.5(MCCC2):c.*843A>C
|
rs1747622599
|
|
|
NM_022132.5(MCCC2):c.*940C>G
|
rs886060746
|
|
|
NM_022132.5(MCCC2):c.*970G>A
|
rs368250327
|
|
|
NM_022132.5(MCCC2):c.-117A>G
|
rs11746722
|
|
|
NM_022132.5(MCCC2):c.1000-17G>A
|
|
|
|
NM_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
|
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=)
|
rs760703487
|
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
|
NM_022132.5(MCCC2):c.1072+12A>T
|
|
|
|
NM_022132.5(MCCC2):c.1072+14G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+17T>C
|
|
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+9G>A
|
rs779091338
|
|
|
NM_022132.5(MCCC2):c.1073-12C>G
|
|
|
|
NM_022132.5(MCCC2):c.1073-27T>C
|
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)
|
rs756218448
|
|
|
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
|
|
|
|
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
|
rs758139797
|
|
|
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
|
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
|
NM_022132.5(MCCC2):c.1147A>T (p.Lys383Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
|
rs750638270
|
|
|
NM_022132.5(MCCC2):c.1150-17A>G
|
|
|
|
NM_022132.5(MCCC2):c.1150-17_1150-16del
|
rs904388490
|
|
|
NM_022132.5(MCCC2):c.1150-1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1150-2A>G
|
|
|
|
NM_022132.5(MCCC2):c.1150-4A>G
|
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
|
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=)
|
rs2112463698
|
|
|
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
|
|
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
|
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)
|
rs2112463755
|
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
|
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=)
|
rs2112463773
|
|
|
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)
|
rs2112463776
|
|
|
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
|
|
|
|
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
|
|
|
|
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
|
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1216+12G>T
|
|
|
|
NM_022132.5(MCCC2):c.1216+19del
|
|
|
|
NM_022132.5(MCCC2):c.1216+1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1216+1G>T
|
|
|
|
NM_022132.5(MCCC2):c.1216+2T>A
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.1217-10T>G
|
rs2112467673
|
|
|
NM_022132.5(MCCC2):c.1217-16C>G
|
|
|
|
NM_022132.5(MCCC2):c.1217-16C>T
|
|
|
|
NM_022132.5(MCCC2):c.1217-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.1217-6_1217-3del
|
|
|
|
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile)
|
rs1373747202
|
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1234del (p.Glu412fs)
|
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
|
|
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
|
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
|
|
|
|
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=)
|
rs1747359129
|
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
|
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
|
rs752877391
|
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
|
NM_022132.5(MCCC2):c.129+10G>A
|
|
|
|
NM_022132.5(MCCC2):c.129+16C>T
|
|
|
|
NM_022132.5(MCCC2):c.129+17G>C
|
|
|
|
NM_022132.5(MCCC2):c.129+1G>T
|
rs1744812773
|
|
|
NM_022132.5(MCCC2):c.129+7T>C
|
|
|
|
NM_022132.5(MCCC2):c.129+8G>C
|
|
|
|
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
|
NM_022132.5(MCCC2):c.130-16T>C
|
|
|
|
NM_022132.5(MCCC2):c.130-20C>A
|
|
|
|
NM_022132.5(MCCC2):c.130-2A>G
|
|
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs)
|
rs2112467862
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
|
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
|
|
|
|
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
|
|
|
|
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=)
|
rs10064079
|
|
|
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1373+16T>G
|
|
|
|
NM_022132.5(MCCC2):c.1373+2T>G
|
rs2112468012
|
|
|
NM_022132.5(MCCC2):c.1374-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)
|
|
|
|
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
|
|
|
|
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs)
|
rs1561848250
|
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
|
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
|
|
|
|
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro)
|
rs1554138549
|
|
|
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
|
|
|
|
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
|
rs758144158
|
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1488+103G>C
|
rs169406
|
|
|
NM_022132.5(MCCC2):c.1488+113G>A
|
rs182191
|
|
|
NM_022132.5(MCCC2):c.1488+11T>C
|
|
|
|
NM_022132.5(MCCC2):c.1488+15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1488+18T>G
|
|
|
|
NM_022132.5(MCCC2):c.1488+1G>A
|
rs2112469361
|
|
|
NM_022132.5(MCCC2):c.1488+8T>A
|
|
|
|
NM_022132.5(MCCC2):c.1488+9C>G
|
rs1561848361
|
|
|
NM_022132.5(MCCC2):c.1489-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.1489-111T>G
|
rs6888301
|
|
|
NM_022132.5(MCCC2):c.1489-16G>A
|
rs1747467303
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
|
NM_022132.5(MCCC2):c.1489-4T>C
|
rs1747467560
|
|
|
NM_022132.5(MCCC2):c.1489-5T>C
|
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
|
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
|
rs1580334193
|
|
|
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
|
rs1391085331
|
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
|
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=)
|
rs140220101
|
|
|
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
|
|
|
|
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
|
rs1315911728
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
|
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)
|
rs2112472855
|
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
|
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
|
|
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
|
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
|
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1574+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.1574+1G>T
|
rs730880265
|
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
|
NM_022132.5(MCCC2):c.1574+73G>A
|
rs2242372
|
|
|
NM_022132.5(MCCC2):c.1574+7dup
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>A
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>T
|
rs1303395410
|
|
|
NM_022132.5(MCCC2):c.1575-15T>C
|
|
|
|
NM_022132.5(MCCC2):c.1575-15_1575-14del
|
|
|
|
NM_022132.5(MCCC2):c.1575-5G>T
|
rs924068629
|
|
|
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
|
rs1747591661
|
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
|
rs2112478257
|
|
|
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=)
|
rs764970690
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
|
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
|
|
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
|
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
|
rs781648337
|
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile)
|
rs1049171546
|
|
|
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
|
rs1200111967
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
|
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
|
|
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
|
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
|
|
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
|
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
|
|
|
|
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
|
rs752593298
|
|
|
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
|
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
|
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)
|
rs796051989
|
|
|
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
|
|
|
|
NM_022132.5(MCCC2):c.196+19C>A
|
|
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
|
NM_022132.5(MCCC2):c.197-7A>G
|
|
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
|
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
|
rs2112293469
|
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
|
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
|
rs2112293709
|
|
|
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
|
rs2112293727
|
|
|
NM_022132.5(MCCC2):c.246G>A (p.Leu82=)
|
rs1427801007
|
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
|
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
|
rs1295786119
|
|
|
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
|
|
|
|
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
|
|
|
|
NM_022132.5(MCCC2):c.279A>T (p.Pro93=)
|
rs1554133471
|
|
|
NM_022132.5(MCCC2):c.281+10T>G
|
|
|
|
NM_022132.5(MCCC2):c.281+14C>T
|
|
|
|
NM_022132.5(MCCC2):c.281+1G>T
|
rs1580273474
|
|
|
NM_022132.5(MCCC2):c.281+1del
|
|
|
|
NM_022132.5(MCCC2):c.281+2T>C
|
|
|
|
NM_022132.5(MCCC2):c.281+5G>T
|
|
|
|
NM_022132.5(MCCC2):c.282-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.282-1G>C
|
|
|
|
NM_022132.5(MCCC2):c.282-9T>C
|
rs1464131809
|
|
|
NM_022132.5(MCCC2):c.282-9_285del
|
rs2112308599
|
|
|
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
|
|
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
|
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter)
|
rs2112308910
|
|
|
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
|
rs2112308941
|
|
|
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
|
rs2112308948
|
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
|
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
|
|
|
|
NM_022132.5(MCCC2):c.342del (p.Pro115fs)
|
rs2112309156
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
|
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
|
|
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
|
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)
|
rs398124372
|
|
|
NM_022132.5(MCCC2):c.383+4A>G
|
rs1745349543
|
|
|
NM_022132.5(MCCC2):c.384-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
|
NM_022132.5(MCCC2):c.384-8C>G
|
rs2112319784
|
|
|
NM_022132.5(MCCC2):c.384-9G>A
|
rs2112319771
|
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
|
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
|
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
|
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
|
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
|
|
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
|
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
|
|
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
|
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
|
|
|
|
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
|
|
|
|
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
|
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
|
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
|
rs774803841
|
|
|
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
|
|
|
|
NM_022132.5(MCCC2):c.511+10del
|
|
|
|
NM_022132.5(MCCC2):c.511+11A>C
|
|
|
|
NM_022132.5(MCCC2):c.511+13A>T
|
|
|
|
NM_022132.5(MCCC2):c.511+14G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+1G>A
|
rs1165990855
|
|
|
NM_022132.5(MCCC2):c.511+1G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+20A>G
|
|
|
|
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
|
|
|
|
NM_022132.5(MCCC2):c.512-14T>A
|
rs765487963
|
|
|
NM_022132.5(MCCC2):c.512-19T>G
|
|
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
|
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
|
|
|
|
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
|
rs753733837
|
|
|
NM_022132.5(MCCC2):c.529del (p.Tyr177fs)
|
|
|
|
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
|
|
|
|
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
|
|
|
|
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter)
|
rs2112328709
|
|
|
NM_022132.5(MCCC2):c.537T>A (p.Pro179=)
|
rs1275219211
|
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
|
NM_022132.5(MCCC2):c.540A>G (p.Arg180=)
|
rs2112328806
|
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
|
NM_022132.5(MCCC2):c.54C>G (p.Ala18=)
|
rs747327321
|
|
|
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
|
|
|
|
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
|
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
|
NM_022132.5(MCCC2):c.557del (p.Pro186fs)
|
rs1745582317
|
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
|
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
|
|
|
|
NM_022132.5(MCCC2):c.569A>G (p.His190Arg)
|
rs119103225
|
|
|
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
|
|
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
|
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His)
|
rs2112329234
|
|
|
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)
|
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
|
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
|
|
|
|
NM_022132.5(MCCC2):c.608del (p.Ser203fs)
|
|
|
|
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
|
|
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
|
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
|
rs2112329401
|
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
|
NM_022132.5(MCCC2):c.624+10C>A
|
rs2112329449
|
|
|
NM_022132.5(MCCC2):c.624+15A>C
|
|
|
|
NM_022132.5(MCCC2):c.624+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.625-11T>C
|
|
|
|
NM_022132.5(MCCC2):c.625-15G>A
|
|
|
|
NM_022132.5(MCCC2):c.625-18C>T
|
|
|
|
NM_022132.5(MCCC2):c.625-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
|
|
|
|
NM_022132.5(MCCC2):c.630A>G (p.Ala210=)
|
rs760020328
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
|
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
|
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
|
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
|
|
|
|
NM_022132.5(MCCC2):c.663C>T (p.Ala221=)
|
rs978623277
|
|
|
NM_022132.5(MCCC2):c.663del (p.Tyr222fs)
|
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
|
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
|
rs1337800475
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
|
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
|
|
|
|
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
|
|
|
|
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
|
|
|
|
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met)
|
rs991996366
|
|
|
NM_022132.5(MCCC2):c.699A>G (p.Val233=)
|
rs2112412515
|
|
|
NM_022132.5(MCCC2):c.69del (p.His24fs)
|
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
|
NM_022132.5(MCCC2):c.708G>A (p.Gln236=)
|
rs2112412564
|
|
|
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg)
|
rs781559418
|
|
|
NM_022132.5(MCCC2):c.70del (p.His24fs)
|
|
|
|
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
|
rs200849501
|
|
|
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
|
|
|
|
NM_022132.5(MCCC2):c.726A>G (p.Ala242=)
|
rs2112412678
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
|
NM_022132.5(MCCC2):c.729A>C (p.Gly243=)
|
rs535377555
|
|
|
NM_022132.5(MCCC2):c.72C>G (p.His24Gln)
|
rs374686220
|
|
|
NM_022132.5(MCCC2):c.735del (p.Leu246fs)
|
|
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
|
NM_022132.5(MCCC2):c.738+11A>G
|
|
|
|
NM_022132.5(MCCC2):c.738+17G>A
|
|
|
|
NM_022132.5(MCCC2):c.738+2T>G
|
|
|
|
NM_022132.5(MCCC2):c.738+2dup
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rs2112412775
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NM_022132.5(MCCC2):c.738+6A>G
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NM_022132.5(MCCC2):c.738+8C>A
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rs1746541390
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NM_022132.5(MCCC2):c.739-11C>T
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NM_022132.5(MCCC2):c.739-2A>G
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rs2112427637
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NM_022132.5(MCCC2):c.739-4G>T
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NM_022132.5(MCCC2):c.739-7G>C
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rs765082065
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NM_022132.5(MCCC2):c.739-8T>C
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NM_022132.5(MCCC2):c.739-9T>C
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NM_022132.5(MCCC2):c.739del
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rs1463802125
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NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
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NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
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NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
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NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
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NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)
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NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
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NM_022132.5(MCCC2):c.765A>G (p.Val255=)
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rs1405840387
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NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)
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rs2112251301
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NM_022132.5(MCCC2):c.786T>G (p.Gly262=)
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rs1041557611
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NM_022132.5(MCCC2):c.789del (p.Asp264fs)
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NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
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NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
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rs1746740255
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NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
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NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
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rs756477001
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NM_022132.5(MCCC2):c.803+12A>C
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NM_022132.5(MCCC2):c.803+13T>C
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NM_022132.5(MCCC2):c.803+14G>T
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NM_022132.5(MCCC2):c.803+1G>A
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NM_022132.5(MCCC2):c.803+2T>C
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NM_022132.5(MCCC2):c.803+6A>G
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NM_022132.5(MCCC2):c.803+7C>T
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rs1561840847
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NM_022132.5(MCCC2):c.803+9_803+10del
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rs1561840849
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NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)
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rs119103223
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NM_022132.5(MCCC2):c.804-4G>A
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NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
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rs2112437351
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NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
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rs2112437391
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NM_022132.5(MCCC2):c.823del (p.His275fs)
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rs2112437401
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NM_022132.5(MCCC2):c.826del (p.Trp276fs)
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NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
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NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
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NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
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rs1171847854
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NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
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NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
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NM_022132.5(MCCC2):c.879T>C (p.Asn293=)
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rs753100774
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NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
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NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
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NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
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rs1580319814
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NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
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rs1746869158
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NM_022132.5(MCCC2):c.903+13T>C
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NM_022132.5(MCCC2):c.903+1G>T
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rs2112437820
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NM_022132.5(MCCC2):c.903+20A>T
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NM_022132.5(MCCC2):c.903+2T>G
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NM_022132.5(MCCC2):c.903+4A>T
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NM_022132.5(MCCC2):c.904-10A>G
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rs1746872931
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NM_022132.5(MCCC2):c.904-15T>C
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NM_022132.5(MCCC2):c.904-16A>G
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NM_022132.5(MCCC2):c.904-19A>G
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NM_022132.5(MCCC2):c.904-2A>T
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NM_022132.5(MCCC2):c.90G>A (p.Ser30=)
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rs559384926
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NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
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rs559384926
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NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter)
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rs1746873504
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NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
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rs757389984
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NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)
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NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
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rs119103221
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NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)
|
rs2112438294
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NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
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NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
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NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)
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NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
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rs1443551700
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NM_022132.5(MCCC2):c.960A>C (p.Ile320=)
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rs1746875605
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NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
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NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
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NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
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NM_022132.5(MCCC2):c.970_985del (p.Asn324fs)
|
rs2112438432
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NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
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NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
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NM_022132.5(MCCC2):c.987T>C (p.Phe329=)
|
rs2112438541
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NM_022132.5(MCCC2):c.987dup (p.Asp330Ter)
|
rs1554137532
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NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
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NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)
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NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
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NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
|
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