NM_020166.5(MCCC1):c.1978-57G>T
|
rs6786878
|
0.93354
|
NM_020166.5(MCCC1):c.1978-186G>A
|
rs10804888
|
0.89482
|
NM_020166.5(MCCC1):c.1268-255A>G
|
rs9861464
|
0.89480
|
NM_020166.5(MCCC1):c.1978-287T>A
|
rs10937105
|
0.89193
|
NM_020166.5(MCCC1):c.396C>T (p.Leu132=)
|
rs7622479
|
0.89165
|
NM_020166.5(MCCC1):c.492-222A>G
|
rs6785680
|
0.89162
|
NM_020166.5(MCCC1):c.762-187G>A
|
rs7646991
|
0.89081
|
NM_020166.5(MCCC1):c.1083+185G>A
|
rs13088830
|
0.61827
|
NM_020166.5(MCCC1):c.956-252C>T
|
rs1502762
|
0.61797
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_020166.5(MCCC1):c.2050-193A>G
|
rs12486983
|
0.56970
|
NM_020166.5(MCCC1):c.369+96C>T
|
rs6806083
|
0.54587
|
NM_020166.5(MCCC1):c.1870-262C>T
|
rs10937106
|
0.50107
|
NM_020166.5(MCCC1):c.1084-217G>A
|
rs2292057
|
0.50090
|
NM_020166.5(MCCC1):c.1268-161C>T
|
rs2270967
|
0.50080
|
NM_020166.5(MCCC1):c.1731+276G>T
|
rs7640612
|
0.49990
|
NM_020166.5(MCCC1):c.1267+258G>A
|
rs2292058
|
0.08289
|
NM_020166.5(MCCC1):c.1595-178G>A
|
rs140278703
|
0.06872
|
NM_020166.5(MCCC1):c.1681+77C>T
|
rs75187429
|
0.06739
|
NM_020166.5(MCCC1):c.370-255G>T
|
rs78297829
|
0.06499
|
NM_020166.5(MCCC1):c.873+337G>A
|
rs113566442
|
0.06361
|
NM_020166.5(MCCC1):c.874-239A>G
|
rs62293212
|
0.06079
|
NM_020166.5(MCCC1):c.1869+255A>G
|
rs73883998
|
0.03531
|
NC_000003.12:g.183099917C>A
|
rs7615451
|
0.03453
|
NM_020166.5(MCCC1):c.762-182A>T
|
rs74655374
|
0.03187
|
NM_020166.5(MCCC1):c.956-324G>T
|
rs3772721
|
0.03014
|
NM_020166.5(MCCC1):c.1977+94T>G
|
rs77932064
|
0.02845
|
NM_020166.5(MCCC1):c.492-126G>A
|
rs6772568
|
0.02755
|
NM_020166.5(MCCC1):c.491+188A>T
|
rs78684959
|
0.02600
|
NM_020166.5(MCCC1):c.1595-100T>C
|
rs7629760
|
0.02592
|
NM_020166.5(MCCC1):c.1595-102T>C
|
rs7629763
|
0.02590
|
NM_020166.5(MCCC1):c.1978-194C>A
|
rs73883994
|
0.02390
|
NM_020166.5(MCCC1):c.1595-181T>C
|
rs112734059
|
0.02246
|
NM_020166.5(MCCC1):c.1268-90C>T
|
rs140957052
|
0.01709
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
NM_020166.5(MCCC1):c.273+270C>T
|
rs74380421
|
0.01143
|
NM_020166.5(MCCC1):c.2049+31G>A
|
rs73068824
|
0.01038
|
NM_020166.5(MCCC1):c.1595-96C>T
|
rs12330492
|
0.00882
|
NM_020166.5(MCCC1):c.1595-111A>G
|
rs112025174
|
0.00864
|
NM_020166.5(MCCC1):c.1594+127G>T
|
rs143318455
|
0.00814
|
NM_020166.5(MCCC1):c.873+36G>A
|
rs114706421
|
0.00527
|
NM_020166.5(MCCC1):c.273+69A>G
|
rs150193548
|
0.00505
|
NM_020166.5(MCCC1):c.1682-75G>T
|
rs73068830
|
0.00487
|
NM_020166.5(MCCC1):c.726T>C (p.Asp242=)
|
rs36206712
|
0.00445
|
NM_020166.5(MCCC1):c.2049+237T>C
|
rs537365135
|
0.00418
|
NM_020166.5(MCCC1):c.*1A>T
|
rs115605600
|
0.00230
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
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.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00003
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
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.1397A>G (p.Asn466Ser)
|
rs751228970
|
0.00001
|
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe)
|
rs727504003
|
0.00001
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
GRCh37/hg19 3q27.1(chr3:182759355-182759538)x1
|
|
|
NC_000003.12:g.183099673dup
|
rs141274667
|
|
NM_020166.5(MCCC1):c.1010A>G (p.Asn337Ser)
|
rs2108486713
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1083+208C>G
|
|
|
NM_020166.5(MCCC1):c.1083+304dup
|
rs35283773
|
|
NM_020166.5(MCCC1):c.1083+320del
|
rs35283773
|
|
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro)
|
rs794727036
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1268-89G>A
|
rs73068841
|
|
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala)
|
rs398124351
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
NM_020166.5(MCCC1):c.1363del (p.Leu455fs)
|
rs796051986
|
|
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)
|
rs1000891879
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter)
|
rs1713695107
|
|
NM_020166.5(MCCC1):c.156C>A (p.Val52=)
|
rs398124353
|
|
NM_020166.5(MCCC1):c.1595-180A>G
|
|
|
NM_020166.5(MCCC1):c.1681+92_1681+100dup
|
rs146243904
|
|
NM_020166.5(MCCC1):c.1682-246_1682-242del
|
rs72489915
|
|
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys)
|
rs1057520695
|
|
NM_020166.5(MCCC1):c.1790dup (p.Tyr597Ter)
|
rs2108441527
|
|
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=)
|
rs1577239619
|
|
NM_020166.5(MCCC1):c.1870-134T>C
|
rs9834143
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.192G>A (p.Val64=)
|
rs1360164882
|
|
NM_020166.5(MCCC1):c.1973_1977+28del
|
rs776641008
|
|
NM_020166.5(MCCC1):c.1978-86A>C
|
rs2292056
|
|
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter)
|
rs147741073
|
|
NM_020166.5(MCCC1):c.2085del (p.Val697fs)
|
rs772010858
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.273+53A>C
|
rs3732604
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
NM_020166.5(MCCC1):c.492-92T>A
|
rs112348183
|
|
NM_020166.5(MCCC1):c.54G>A (p.Arg18=)
|
rs1577376491
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
NM_020166.5(MCCC1):c.761+265del
|
rs11313652
|
|
NM_020166.5(MCCC1):c.776A>T (p.Gln259Leu)
|
|
|
NM_020166.5(MCCC1):c.857T>C (p.Ile286Thr)
|
rs2108505511
|
|
NM_020166.5(MCCC1):c.874-6del
|
rs755494348
|
|
NM_020166.5(MCCC1):c.89+42G>A
|
rs57347018
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|