ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1210
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
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.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_020166.5(MCCC1):c.1731+6C>A rs369754994 0.00061
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) rs147116804 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
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_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00037
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447 0.00037
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877 0.00034
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
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_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
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_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
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_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020166.5(MCCC1):c.89+13G>C rs774187137 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_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) rs201745589 0.00010
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) rs144631139 0.00009
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.738+16C>T rs554502924 0.00007
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 0.00006
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) rs146689034 0.00006
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr) rs371795972 0.00006
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00006
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) rs750602906 0.00006
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 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_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) rs202192191 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 0.00005
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val) rs776594363 0.00005
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) rs762409158 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.384-20A>G rs770917710 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_020166.5(MCCC1):c.1233C>T (p.Asp411=) rs140579569 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854 0.00004
NM_020166.5(MCCC1):c.136+7A>G rs559629034 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020166.5(MCCC1):c.165A>G (p.Ala55=) rs373199843 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) rs143892743 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053 0.00004
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) rs750778690 0.00004
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 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_020166.5(MCCC1):c.1113C>T (p.Ser371=) rs368135707 0.00003
NM_020166.5(MCCC1):c.1212C>T (p.His404=) rs769780560 0.00003
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln) rs761249521 0.00003
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) rs774243822 0.00003
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) rs757687424 0.00003
NM_020166.5(MCCC1):c.1377+17C>T rs375624644 0.00003
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) rs547421709 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=) rs370727510 0.00003
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly) rs992786696 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020166.5(MCCC1):c.300C>T (p.Pro100=) rs747409426 0.00003
NM_020166.5(MCCC1):c.492-5T>C rs775353666 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.759G>A (p.Pro253=) rs761851977 0.00003
NM_020166.5(MCCC1):c.78C>T (p.Leu26=) rs760268547 0.00003
NM_020166.5(MCCC1):c.90-20C>T rs369103962 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_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072 0.00002
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu) rs371219844 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414 0.00002
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr) rs778145370 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) rs375326791 0.00002
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) rs765869735 0.00002
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) rs760366008 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.639+9G>T rs780170482 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 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_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) rs965802215 0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) rs367625370 0.00001
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) rs746900508 0.00001
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile) rs1714102747 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=) rs777766730 0.00001
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) rs781302711 0.00001
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165 0.00001
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) rs946293038 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168 0.00001
NM_020166.5(MCCC1):c.1268-7A>G rs1417892958 0.00001
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=) rs779316162 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile) rs1410294013 0.00001
NM_020166.5(MCCC1):c.135A>T (p.Thr45=) rs1286585591 0.00001
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) rs369847846 0.00001
NM_020166.5(MCCC1):c.1377+18G>A rs1373677740 0.00001
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=) rs780740389 0.00001
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1594+6G>C rs777825199 0.00001
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001 0.00001
NM_020166.5(MCCC1):c.1681+2T>C rs1333994006 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser) rs112307657 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644 0.00001
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=) rs769042107 0.00001
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.183C>T (p.Ala61=) rs756447790 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=) rs1382492613 0.00001
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751 0.00001
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg) rs755699519 0.00001
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) rs903196916 0.00001
NM_020166.5(MCCC1):c.2049+10T>C rs1233685852 0.00001
NM_020166.5(MCCC1):c.2082A>G (p.Val694=) rs765720892 0.00001
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041 0.00001
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) rs750133436 0.00001
NM_020166.5(MCCC1):c.2136C>T (p.Val712=) rs984881958 0.00001
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) rs781286566 0.00001
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207 0.00001
NM_020166.5(MCCC1):c.263A>G (p.His88Arg) rs1352224093 0.00001
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr) rs1453501166 0.00001
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val) rs772547872 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850 0.00001
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val) rs754963220 0.00001
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) rs780072787 0.00001
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn) rs1055095015 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.492-6C>T rs746685018 0.00001
NM_020166.5(MCCC1):c.492-7T>C rs768336115 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) rs1198116993 0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) rs149268368 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn) rs1716633366 0.00001
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys) rs952738286 0.00001
NM_020166.5(MCCC1):c.762G>A (p.Arg254=) rs149389595 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020166.5(MCCC1):c.804del (p.Val269fs) rs1307113234 0.00001
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251 0.00001
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NM_020166.5(MCCC1):c.89+1G>C rs771730236 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 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+7G>T rs766044711 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.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_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182733226)_(182817228_?)dup
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_182743523)_(182743612_?)del
NC_000003.11:g.(?_182751759)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182775230_?)del
NC_000003.11:g.(?_182756794)_(182763348_?)del
NC_000003.11:g.(?_182763181)_(182810353_?)dup
NC_000003.11:g.(?_182769927)_(182817228_?)del
NC_000003.11:g.(?_182788836)_(182792878_?)del
NC_000003.11:g.(?_182790144)_(182817385_?)del
NC_000003.11:g.(?_182810187)_(182812403_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000003.12:g.183057423del
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.(?_70883253)_(70883401_?)del
NC_000005.9:g.(?_70888733)_(70895607_?)del
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.(?_70895466)_(70900315_?)del
NC_000005.9:g.(?_70895466)_(70900315_?)dup
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.(?_70927928)_(70931093_?)del
NC_000005.9:g.(?_70930773)_(70930871_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000005.9:g.(?_70939626)_(70948601_?)del
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn) rs1714478055
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala) rs1714474829
NM_020166.5(MCCC1):c.1068G>A (p.Val356=) rs1175377728
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=) rs773029355
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=) rs2108486547
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1083+16C>G
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
NM_020166.5(MCCC1):c.1084-1G>C rs2108479565
NM_020166.5(MCCC1):c.1084-6T>C
NM_020166.5(MCCC1):c.1084-8A>G
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=) rs777891780
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) rs755328329
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val) rs2108479414
NM_020166.5(MCCC1):c.1126del (p.Thr376fs)
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter) rs2108479383
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup) rs2108479359
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln) rs1714100545
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) rs2108479136
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) rs1714092180
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) rs1577276072
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly) rs1484347924
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter) rs2108569910
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter) rs2108478837
NM_020166.5(MCCC1):c.1267+15A>G
NM_020166.5(MCCC1):c.1267+9A>G rs2108478831
NM_020166.5(MCCC1):c.1268-18C>T
NM_020166.5(MCCC1):c.1268-18del
NM_020166.5(MCCC1):c.1268-19C>A
NM_020166.5(MCCC1):c.1268-19C>T
NM_020166.5(MCCC1):c.1268-20A>C
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1268-6T>C
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn) rs1713861760
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp) rs2108474014
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) rs759359909
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) rs1713855580
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter) rs1453886049
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A
NM_020166.5(MCCC1):c.136+18T>G
NM_020166.5(MCCC1):c.136+8C>G
NM_020166.5(MCCC1):c.136+9A>G
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137-15T>C
NM_020166.5(MCCC1):c.137-18dup
NM_020166.5(MCCC1):c.137-7T>A
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1377+6T>G rs1369902442
NM_020166.5(MCCC1):c.1378-17G>C
NM_020166.5(MCCC1):c.1378-17del
NM_020166.5(MCCC1):c.1378-1G>T rs2108470990
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val) rs2108470950
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=) rs2108470855
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) rs565662458
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=) rs565662458
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) rs1290771044
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) rs200216718
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) rs1351299439
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) rs2108470530
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) rs1713693597
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) rs1713694212
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.156C>T (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
NM_020166.5(MCCC1):c.1594+10G>T
NM_020166.5(MCCC1):c.1594+12T>A
NM_020166.5(MCCC1):c.1594+12T>C
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1594+3A>G
NM_020166.5(MCCC1):c.1594+9G>A
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1595-2A>G rs1235781420
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter) rs2108461735
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1681+10G>A
NM_020166.5(MCCC1):c.1681+13T>C
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.1681+7A>G
NM_020166.5(MCCC1):c.1681+9T>C rs2108461619
NM_020166.5(MCCC1):c.1682-12T>C
NM_020166.5(MCCC1):c.1682-16C>T
NM_020166.5(MCCC1):c.1682-17dup
NM_020166.5(MCCC1):c.1682-6A>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) rs747015041
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
NM_020166.5(MCCC1):c.1731+1G>A
NM_020166.5(MCCC1):c.1731+1del
NM_020166.5(MCCC1):c.1731+7C>T
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.1732-4dup
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) rs2108441668
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) rs2108441635
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) rs2108441478
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe) rs1352360605
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) rs2108441402
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln) rs2108441391
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs) rs2108441358
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1869+7T>A rs2108441301
NM_020166.5(MCCC1):c.1869+9T>C
NM_020166.5(MCCC1):c.1870-18T>C
NM_020166.5(MCCC1):c.1870-18_1870-16dup
NM_020166.5(MCCC1):c.1870-2A>G
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys) rs2108565998
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) rs1712031289
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1977+13C>T
NM_020166.5(MCCC1):c.1977+4dup rs1488259395
NM_020166.5(MCCC1):c.1977+7A>G rs2108437702
NM_020166.5(MCCC1):c.1977+9A>G rs1712027129
NM_020166.5(MCCC1):c.1977+9A>T
NM_020166.5(MCCC1):c.1978-8del rs747001867
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile) rs2108565928
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr) rs1354787415
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
NM_020166.5(MCCC1):c.2049+15A>C
NM_020166.5(MCCC1):c.2049+9A>G rs1711715793
NM_020166.5(MCCC1):c.2050-15C>T
NM_020166.5(MCCC1):c.2050-19C>T
NM_020166.5(MCCC1):c.2050-2A>G rs2108428908
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) rs751755306
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=) rs1203426656
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) rs1718434052
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
NM_020166.5(MCCC1):c.2115del (p.Asn706fs) rs2108428693
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala) rs761521333
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=) rs781286566
NM_020166.5(MCCC1):c.219A>C (p.Val73=) rs1280526570
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs) rs2108565864
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His) rs1485157465
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro) rs2108565751
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
NM_020166.5(MCCC1):c.264T>C (p.His88=)
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) rs1333663197
NM_020166.5(MCCC1):c.272del (p.Met91fs)
NM_020166.5(MCCC1):c.273+1G>C
NM_020166.5(MCCC1):c.273+4T>C rs949646980
NM_020166.5(MCCC1):c.274-18G>A
NM_020166.5(MCCC1):c.274-20A>G
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) rs776254500
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) rs1717919066
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) rs1204945524
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
NM_020166.5(MCCC1):c.369+12G>A
NM_020166.5(MCCC1):c.369+14A>G
NM_020166.5(MCCC1):c.369+2T>C
NM_020166.5(MCCC1):c.370-4C>A
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val) rs2108528600
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly) rs2108528559
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) rs2108528534
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr) rs1436217339
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) rs2108528517
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) rs1716766263
NM_020166.5(MCCC1):c.435del (p.Gly146fs) rs1486240538
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp) rs2108528467
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser) rs1022408190
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) rs1182086058
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) rs1010978187
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln) rs747747680
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
NM_020166.5(MCCC1):c.491+10T>C
NM_020166.5(MCCC1):c.491+13A>G
NM_020166.5(MCCC1):c.491+14T>G
NM_020166.5(MCCC1):c.491+8T>C
NM_020166.5(MCCC1):c.492-11C>G
NM_020166.5(MCCC1):c.492-16C>A
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe) rs2108526692
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
NM_020166.5(MCCC1):c.519T>C (p.Ala173=) rs2108526654
NM_020166.5(MCCC1):c.51C>T (p.Asn17=) rs557695078
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) rs1716671130
NM_020166.5(MCCC1):c.532del (p.Val178fs)
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.556del (p.Gln186fs) rs2108526541
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
NM_020166.5(MCCC1):c.582C>T (p.His194=)
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.59A>G (p.His20Arg) rs751663186
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) rs1406515651
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
NM_020166.5(MCCC1):c.635del (p.Gly212fs) rs2108526355
NM_020166.5(MCCC1):c.639+11G>T rs1716653818
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA rs1716653595
NM_020166.5(MCCC1):c.639+16C>G
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_020166.5(MCCC1):c.639+6A>T
NM_020166.5(MCCC1):c.639+7T>G
NM_020166.5(MCCC1):c.639+8T>G
NM_020166.5(MCCC1):c.639+9G>A
NM_020166.5(MCCC1):c.640-10T>C rs1011275855
NM_020166.5(MCCC1):c.640-16A>G
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640-5C>A rs892786406
NM_020166.5(MCCC1):c.640-7C>G rs1414857427
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) rs2108526043
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) rs2108526023
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) rs750778690
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) rs1716637067
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
NM_020166.5(MCCC1):c.69G>A (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys) rs2108525897
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) rs369227006
NM_020166.5(MCCC1):c.738C>A (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.762-13del
NM_020166.5(MCCC1):c.762-2A>G
NM_020166.5(MCCC1):c.762-2_762-1del rs2108505736
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser) rs149389595
NM_020166.5(MCCC1):c.763C>A (p.His255Asn) rs952365421
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala) rs1315920706
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) rs1715498129
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn) rs2108505562
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) rs1715495987
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) rs1267237320
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu) rs201041864
NM_020166.5(MCCC1):c.873+16A>G
NM_020166.5(MCCC1):c.873+17G>C
NM_020166.5(MCCC1):c.873+17G>T
NM_020166.5(MCCC1):c.873+1G>A
NM_020166.5(MCCC1):c.873_873+3dup rs2108505458
NM_020166.5(MCCC1):c.874-13A>T
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-4A>G
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
NM_020166.5(MCCC1):c.89+12G>A
NM_020166.5(MCCC1):c.89+16A>G
NM_020166.5(MCCC1):c.89+17T>C
NM_020166.5(MCCC1):c.89+1G>A rs771730236
NM_020166.5(MCCC1):c.89+8G>A
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
NM_020166.5(MCCC1):c.90-12T>C
NM_020166.5(MCCC1):c.90-19T>G
NM_020166.5(MCCC1):c.90-1G>A
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.90-5T>C
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser) rs1191290699
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr) rs1715029507
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val) rs1577295874
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs) rs2108496973
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T
NM_020166.5(MCCC1):c.955+1G>A rs1340827377
NM_020166.5(MCCC1):c.955+1G>T
NM_020166.5(MCCC1):c.955+6T>C
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
NM_020166.5(MCCC1):c.956-10dup rs747546545
NM_020166.5(MCCC1):c.956-15T>C
NM_020166.5(MCCC1):c.956-19A>G
NM_020166.5(MCCC1):c.956-7C>G
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu) rs2108486818
NM_020166.5(MCCC1):c.960del (p.Val321fs)
NM_020166.5(MCCC1):c.969T>C (p.Phe323=) rs2108486797
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.1000-17G>A
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
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.1073-9T>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.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.1150-4A>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.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+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.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.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+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.1489-16G>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.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.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) rs1747472048
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+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.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.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.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.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.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>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.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.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>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.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.598A>G (p.Ile200Val) rs2112329325
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
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.625-15G>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.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.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 rs2112412775
NM_022132.5(MCCC2):c.738+6A>G
NM_022132.5(MCCC2):c.738+8C>A rs1746541390
NM_022132.5(MCCC2):c.739-11C>T
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.739-4G>T
NM_022132.5(MCCC2):c.739-7G>C rs765082065
NM_022132.5(MCCC2):c.739-8T>C
NM_022132.5(MCCC2):c.739-9T>C
NM_022132.5(MCCC2):c.739del rs1463802125
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.765A>G (p.Val255=) rs1405840387
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs) rs2112251301
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) rs1041557611
NM_022132.5(MCCC2):c.789del (p.Asp264fs)
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro) rs1746740255
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly) rs756477001
NM_022132.5(MCCC2):c.803+12A>C
NM_022132.5(MCCC2):c.803+13T>C
NM_022132.5(MCCC2):c.803+14G>T
NM_022132.5(MCCC2):c.803+6A>G
NM_022132.5(MCCC2):c.803+7C>T rs1561840847
NM_022132.5(MCCC2):c.803+9_803+10del rs1561840849
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.804-4G>A
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg) rs2112437351
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) rs2112437391
NM_022132.5(MCCC2):c.823del (p.His275fs) rs2112437401
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
NM_022132.5(MCCC2):c.861T>C (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
NM_022132.5(MCCC2):c.879T>C (p.Asn293=) rs753100774
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) rs1580319814
NM_022132.5(MCCC2):c.898T>C (p.Leu300=) rs1746869158
NM_022132.5(MCCC2):c.903+13T>C
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.903+20A>T
NM_022132.5(MCCC2):c.903+2T>G
NM_022132.5(MCCC2):c.903+4A>T
NM_022132.5(MCCC2):c.904-10A>G rs1746872931
NM_022132.5(MCCC2):c.904-15T>C
NM_022132.5(MCCC2):c.904-16A>G
NM_022132.5(MCCC2):c.904-19A>G
NM_022132.5(MCCC2):c.904-2A>T
NM_022132.5(MCCC2):c.90G>A (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) rs1746875605
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs) rs2112438432
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe) rs2112438464
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser) rs2112438533
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) rs2112438541
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile) rs2112251506
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)

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