NM_020533.3(MCOLN1):c.984C>T (p.Asn328=)
|
rs612862
|
0.28776
|
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)
|
rs61736600
|
0.06042
|
NM_020533.3(MCOLN1):c.405+13G>A
|
rs73488492
|
0.01978
|
NM_020533.3(MCOLN1):c.1360-13G>A
|
rs2305888
|
0.01477
|
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)
|
rs28541364
|
0.01398
|
NM_020533.3(MCOLN1):c.680+14A>T
|
rs151281315
|
0.00709
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)
|
rs147754092
|
0.00231
|
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val)
|
rs141240937
|
0.00119
|
NM_020533.3(MCOLN1):c.1359+11C>A
|
rs193053180
|
0.00106
|
NM_020533.3(MCOLN1):c.32-10A>G
|
rs371191277
|
0.00093
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)
|
rs141168886
|
0.00065
|
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val)
|
rs142259322
|
0.00046
|
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=)
|
rs148187755
|
0.00043
|
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln)
|
rs139377969
|
0.00042
|
NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)
|
rs145706318
|
0.00039
|
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=)
|
rs139922988
|
0.00024
|
NM_020533.3(MCOLN1):c.1359+13C>T
|
rs143068910
|
0.00022
|
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=)
|
rs147455130
|
0.00020
|
NM_020533.3(MCOLN1):c.1360-16G>A
|
rs367955829
|
0.00019
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
NM_020533.3(MCOLN1):c.365G>A (p.Arg122Gln)
|
rs371444491
|
0.00016
|
NM_020533.3(MCOLN1):c.572-8G>A
|
rs373636467
|
0.00015
|
NM_020533.3(MCOLN1):c.878-4G>A
|
rs201492918
|
0.00015
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
NM_020533.3(MCOLN1):c.1197G>T (p.Val399=)
|
rs200208762
|
0.00013
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=)
|
rs180687633
|
0.00013
|
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile)
|
rs771026953
|
0.00011
|
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=)
|
rs146187044
|
0.00011
|
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=)
|
rs886527724
|
0.00011
|
NM_020533.3(MCOLN1):c.681-15G>A
|
rs371978455
|
0.00010
|
NM_020533.3(MCOLN1):c.706C>T (p.Arg236Trp)
|
rs371667920
|
0.00010
|
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)
|
rs201232288
|
0.00009
|
NM_020533.3(MCOLN1):c.213C>T (p.Val71=)
|
rs201157863
|
0.00009
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_020533.3(MCOLN1):c.89C>T (p.Pro30Leu)
|
rs200297215
|
0.00009
|
NM_020533.3(MCOLN1):c.1434C>T (p.Ala478=)
|
rs772184395
|
0.00008
|
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=)
|
rs749335667
|
0.00007
|
NM_020533.3(MCOLN1):c.414G>A (p.Ala138=)
|
rs780538809
|
0.00007
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
NM_020533.3(MCOLN1):c.1040G>A (p.Arg347Gln)
|
rs549648443
|
0.00006
|
NM_020533.3(MCOLN1):c.1135-18C>T
|
rs780085697
|
0.00006
|
NM_020533.3(MCOLN1):c.1392G>A (p.Leu464=)
|
rs376391975
|
0.00006
|
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=)
|
rs747365638
|
0.00006
|
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)
|
rs567995024
|
0.00006
|
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)
|
rs200484869
|
0.00006
|
NM_020533.3(MCOLN1):c.1044G>A (p.Leu348=)
|
rs367994498
|
0.00005
|
NM_020533.3(MCOLN1):c.1191G>A (p.Val397=)
|
rs781393542
|
0.00005
|
NM_020533.3(MCOLN1):c.490G>A (p.Ala164Thr)
|
rs199940548
|
0.00005
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
NM_020533.3(MCOLN1):c.877+6C>T
|
rs762687602
|
0.00005
|
NM_020533.3(MCOLN1):c.90G>A (p.Pro30=)
|
rs773313990
|
0.00005
|
NM_020533.3(MCOLN1):c.915C>T (p.Val305=)
|
rs578062566
|
0.00005
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020533.3(MCOLN1):c.1134+5G>A
|
rs781005728
|
0.00004
|
NM_020533.3(MCOLN1):c.1135-5C>T
|
rs748490777
|
0.00004
|
NM_020533.3(MCOLN1):c.1149C>T (p.Tyr383=)
|
rs376777270
|
0.00004
|
NM_020533.3(MCOLN1):c.1575+10A>C
|
rs771168805
|
0.00004
|
NM_020533.3(MCOLN1):c.1575+7C>T
|
rs201375224
|
0.00004
|
NM_020533.3(MCOLN1):c.1575+8G>A
|
rs372482475
|
0.00004
|
NM_020533.3(MCOLN1):c.1576-5C>A
|
rs775755004
|
0.00004
|
NM_020533.3(MCOLN1):c.159C>T (p.Cys53=)
|
rs776845391
|
0.00004
|
NM_020533.3(MCOLN1):c.1608G>A (p.Glu536=)
|
rs750094891
|
0.00004
|
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=)
|
rs760559591
|
0.00004
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
NM_020533.3(MCOLN1):c.297C>T (p.Ile99=)
|
rs904906326
|
0.00004
|
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=)
|
rs747386198
|
0.00004
|
NM_020533.3(MCOLN1):c.507C>T (p.Tyr169=)
|
rs896210352
|
0.00004
|
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=)
|
rs201211905
|
0.00004
|
NM_020533.3(MCOLN1):c.571+16G>A
|
rs201521719
|
0.00004
|
NM_020533.3(MCOLN1):c.610C>T (p.Pro204Ser)
|
rs886054694
|
0.00004
|
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=)
|
rs754263664
|
0.00004
|
NM_020533.3(MCOLN1):c.984+13C>T
|
rs376284815
|
0.00004
|
NM_020533.3(MCOLN1):c.1239C>A (p.Ile413=)
|
rs756352586
|
0.00003
|
NM_020533.3(MCOLN1):c.1428G>A (p.Thr476=)
|
rs774352633
|
0.00003
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020533.3(MCOLN1):c.31+1G>A
|
rs1057516246
|
0.00003
|
NM_020533.3(MCOLN1):c.41G>A (p.Arg14Gln)
|
rs200048852
|
0.00003
|
NM_020533.3(MCOLN1):c.480C>T (p.Gly160=)
|
rs1474264968
|
0.00003
|
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)
|
rs528887619
|
0.00003
|
NM_020533.3(MCOLN1):c.753G>A (p.Pro251=)
|
rs756314123
|
0.00003
|
NM_020533.3(MCOLN1):c.772G>A (p.Val258Ile)
|
rs369431026
|
0.00003
|
NM_020533.3(MCOLN1):c.778-15A>T
|
rs772579928
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)
|
rs535003448
|
0.00002
|
NM_020533.3(MCOLN1):c.1119C>T (p.Ile373=)
|
rs765687408
|
0.00002
|
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=)
|
rs755029960
|
0.00002
|
NM_020533.3(MCOLN1):c.1237-12G>A
|
rs763017059
|
0.00002
|
NM_020533.3(MCOLN1):c.135C>G (p.Leu45=)
|
rs775399085
|
0.00002
|
NM_020533.3(MCOLN1):c.1554C>T (p.Thr518=)
|
rs745680669
|
0.00002
|
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=)
|
rs140151993
|
0.00002
|
NM_020533.3(MCOLN1):c.1698C>T (p.Cys566=)
|
rs772896139
|
0.00002
|
NM_020533.3(MCOLN1):c.273G>A (p.Val91=)
|
rs750262188
|
0.00002
|
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=)
|
rs150008188
|
0.00002
|
NM_020533.3(MCOLN1):c.406-7C>T
|
rs547369700
|
0.00002
|
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=)
|
rs374412302
|
0.00002
|
NM_020533.3(MCOLN1):c.537C>T (p.Asn179=)
|
rs376002658
|
0.00002
|
NM_020533.3(MCOLN1):c.538G>A (p.Asp180Asn)
|
rs777233353
|
0.00002
|
NM_020533.3(MCOLN1):c.665C>T (p.Thr222Met)
|
rs749863642
|
0.00002
|
NM_020533.3(MCOLN1):c.680+4C>T
|
rs1002423309
|
0.00002
|
NM_020533.3(MCOLN1):c.813C>T (p.Ile271=)
|
rs1005655619
|
0.00002
|
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg)
|
rs183077397
|
0.00002
|
NM_020533.3(MCOLN1):c.861C>T (p.Pro287=)
|
rs759571499
|
0.00002
|
NM_020533.3(MCOLN1):c.906C>T (p.Asp302=)
|
rs769304283
|
0.00002
|
NM_020533.3(MCOLN1):c.1013G>A (p.Arg338Gln)
|
rs368837514
|
0.00001
|
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=)
|
rs929597481
|
0.00001
|
NM_020533.3(MCOLN1):c.1083C>T (p.Ser361=)
|
rs911853632
|
0.00001
|
NM_020533.3(MCOLN1):c.1100C>T (p.Ser367Leu)
|
rs775692310
|
0.00001
|
NM_020533.3(MCOLN1):c.1125C>T (p.Ile375=)
|
rs762560191
|
0.00001
|
NM_020533.3(MCOLN1):c.1135-4G>A
|
rs201876708
|
0.00001
|
NM_020533.3(MCOLN1):c.1143G>A (p.Ala381=)
|
rs749784466
|
0.00001
|
NM_020533.3(MCOLN1):c.117A>G (p.Glu39=)
|
rs750910015
|
0.00001
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
NM_020533.3(MCOLN1):c.1237-19T>C
|
rs2022624616
|
0.00001
|
NM_020533.3(MCOLN1):c.1245C>T (p.Ile415=)
|
rs1302332702
|
0.00001
|
NM_020533.3(MCOLN1):c.1254G>T (p.Leu418=)
|
rs779390455
|
0.00001
|
NM_020533.3(MCOLN1):c.1263C>T (p.Ala421=)
|
rs779383350
|
0.00001
|
NM_020533.3(MCOLN1):c.1293C>T (p.Cys431=)
|
rs766358820
|
0.00001
|
NM_020533.3(MCOLN1):c.137A>G (p.Lys46Arg)
|
rs893292707
|
0.00001
|
NM_020533.3(MCOLN1):c.1398G>A (p.Ser466=)
|
rs1319588522
|
0.00001
|
NM_020533.3(MCOLN1):c.1413C>T (p.Asp471=)
|
rs199756902
|
0.00001
|
NM_020533.3(MCOLN1):c.1455C>A (p.Gly485=)
|
rs1332132536
|
0.00001
|
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)
|
rs1453967813
|
0.00001
|
NM_020533.3(MCOLN1):c.1461C>T (p.Ser487=)
|
rs766701393
|
0.00001
|
NM_020533.3(MCOLN1):c.1467G>A (p.Leu489=)
|
rs751972886
|
0.00001
|
NM_020533.3(MCOLN1):c.1470G>A (p.Val490=)
|
rs1381086540
|
0.00001
|
NM_020533.3(MCOLN1):c.1506C>A (p.Ile502=)
|
rs142388236
|
0.00001
|
NM_020533.3(MCOLN1):c.1533C>T (p.Ser511=)
|
rs2022639670
|
0.00001
|
NM_020533.3(MCOLN1):c.1542C>T (p.Ile514=)
|
rs777203448
|
0.00001
|
NM_020533.3(MCOLN1):c.1545G>A (p.Ala515=)
|
rs756898791
|
0.00001
|
NM_020533.3(MCOLN1):c.1576-18C>T
|
rs534380558
|
0.00001
|
NM_020533.3(MCOLN1):c.1581C>T (p.Pro527=)
|
rs900817572
|
0.00001
|
NM_020533.3(MCOLN1):c.1599G>A (p.Glu533=)
|
rs539750700
|
0.00001
|
NM_020533.3(MCOLN1):c.1623C>T (p.Ile541=)
|
rs1393848749
|
0.00001
|
NM_020533.3(MCOLN1):c.1638C>T (p.Asp546=)
|
rs759755939
|
0.00001
|
NM_020533.3(MCOLN1):c.1659C>T (p.Phe553=)
|
rs1400006231
|
0.00001
|
NM_020533.3(MCOLN1):c.1677G>C (p.Ser559=)
|
rs775876795
|
0.00001
|
NM_020533.3(MCOLN1):c.1683C>T (p.Cys561=)
|
rs776990695
|
0.00001
|
NM_020533.3(MCOLN1):c.1690C>G (p.Leu564Val)
|
rs764808010
|
0.00001
|
NM_020533.3(MCOLN1):c.1706+7G>T
|
rs1179098814
|
0.00001
|
NM_020533.3(MCOLN1):c.1707-6C>T
|
rs1206401144
|
0.00001
|
NM_020533.3(MCOLN1):c.1707-7C>T
|
rs371588106
|
0.00001
|
NM_020533.3(MCOLN1):c.1734G>T (p.Leu578=)
|
rs561495897
|
0.00001
|
NM_020533.3(MCOLN1):c.183C>G (p.Arg61=)
|
rs754565497
|
0.00001
|
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=)
|
rs1182165362
|
0.00001
|
NM_020533.3(MCOLN1):c.18T>G (p.Gly6=)
|
rs1348144589
|
0.00001
|
NM_020533.3(MCOLN1):c.222G>A (p.Leu74=)
|
rs770748705
|
0.00001
|
NM_020533.3(MCOLN1):c.228C>T (p.Val76=)
|
rs1441079209
|
0.00001
|
NM_020533.3(MCOLN1):c.249T>C (p.Phe83=)
|
rs2022568652
|
0.00001
|
NM_020533.3(MCOLN1):c.255C>T (p.Leu85=)
|
rs2022568798
|
0.00001
|
NM_020533.3(MCOLN1):c.281G>A (p.Arg94Gln)
|
rs1158583058
|
0.00001
|
NM_020533.3(MCOLN1):c.303C>T (p.Phe101=)
|
rs1444483937
|
0.00001
|
NM_020533.3(MCOLN1):c.309C>T (p.His103=)
|
rs1226555529
|
0.00001
|
NM_020533.3(MCOLN1):c.32-12C>A
|
rs1372906524
|
0.00001
|
NM_020533.3(MCOLN1):c.351C>T (p.Phe117=)
|
rs377692216
|
0.00001
|
NM_020533.3(MCOLN1):c.363G>A (p.Thr121=)
|
rs758222055
|
0.00001
|
NM_020533.3(MCOLN1):c.373C>T (p.Leu125=)
|
rs1372371793
|
0.00001
|
NM_020533.3(MCOLN1):c.405+16C>T
|
rs771159619
|
0.00001
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
NM_020533.3(MCOLN1):c.406-17C>G
|
rs753901478
|
0.00001
|
NM_020533.3(MCOLN1):c.406-6C>T
|
rs528669009
|
0.00001
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs)
|
rs1568398702
|
0.00001
|
NM_020533.3(MCOLN1):c.48G>C (p.Leu16=)
|
rs776627554
|
0.00001
|
NM_020533.3(MCOLN1):c.498C>T (p.Cys166=)
|
rs937781548
|
0.00001
|
NM_020533.3(MCOLN1):c.502C>T (p.Arg168Trp)
|
rs757301173
|
0.00001
|
NM_020533.3(MCOLN1):c.504G>A (p.Arg168=)
|
rs750573419
|
0.00001
|
NM_020533.3(MCOLN1):c.510C>T (p.Tyr170=)
|
rs758675462
|
0.00001
|
NM_020533.3(MCOLN1):c.51C>T (p.Thr17=)
|
rs1334031081
|
0.00001
|
NM_020533.3(MCOLN1):c.522C>T (p.His174=)
|
rs747359059
|
0.00001
|
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=)
|
rs773903184
|
0.00001
|
NM_020533.3(MCOLN1):c.609G>A (p.Pro203=)
|
rs987069104
|
0.00001
|
NM_020533.3(MCOLN1):c.618C>T (p.Ser206=)
|
rs200644134
|
0.00001
|
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=)
|
rs774271399
|
0.00001
|
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe)
|
rs576022241
|
0.00001
|
NM_020533.3(MCOLN1):c.633C>G (p.Leu211=)
|
rs775690240
|
0.00001
|
NM_020533.3(MCOLN1):c.654C>T (p.Tyr218=)
|
rs757685298
|
0.00001
|
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=)
|
rs757935075
|
0.00001
|
NM_020533.3(MCOLN1):c.680+7C>T
|
rs746650613
|
0.00001
|
NM_020533.3(MCOLN1):c.681-19A>C
|
rs768736321
|
0.00001
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
NM_020533.3(MCOLN1):c.768C>T (p.Phe256=)
|
rs1317895184
|
0.00001
|
NM_020533.3(MCOLN1):c.777+13G>A
|
rs775042317
|
0.00001
|
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)
|
rs746629838
|
0.00001
|
NM_020533.3(MCOLN1):c.81G>A (p.Gly27=)
|
rs372370104
|
0.00001
|
NM_020533.3(MCOLN1):c.840C>T (p.His280=)
|
rs766269225
|
0.00001
|
NM_020533.3(MCOLN1):c.878-10C>T
|
rs572407593
|
0.00001
|
NM_020533.3(MCOLN1):c.878-5C>T
|
rs750663104
|
0.00001
|
NM_020533.3(MCOLN1):c.942C>T (p.Leu314=)
|
rs773993490
|
0.00001
|
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=)
|
rs759397627
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020533.3(MCOLN1):c.984+10C>T
|
rs2022609476
|
0.00001
|
NM_020533.3(MCOLN1):c.984+1G>A
|
rs767950930
|
0.00001
|
NM_020533.3(MCOLN1):c.99G>A (p.Pro33=)
|
rs760801246
|
0.00001
|
NC_000019.10:g.(?_7522731)_(7528277_?)del
|
|
|
NC_000019.9:g.(?_6361586)_(8212364_?)del
|
|
|
NC_000019.9:g.(?_7504827)_(7712696_?)del
|
|
|
NC_000019.9:g.(?_7586521)_(8670595_?)dup
|
|
|
NC_000019.9:g.(?_7586622)_(7593054_?)del
|
|
|
NC_000019.9:g.(?_7586622)_(7593056_?)del
|
|
|
NC_000019.9:g.(?_7586623)_(7593055_?)del
|
|
|
NC_000019.9:g.(?_7587627)_(7587677_?)del
|
|
|
NC_000019.9:g.(?_7598389)_(7598681_?)del
|
|
|
NM_020533.2(MCOLN1):c.-1015_789del
|
|
|
NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)
|
|
|
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=)
|
rs1164919725
|
|
NM_020533.3(MCOLN1):c.1014G>T (p.Arg338=)
|
|
|
NM_020533.3(MCOLN1):c.1018C>T (p.Arg340Trp)
|
|
|
NM_020533.3(MCOLN1):c.1026C>T (p.Ile342=)
|
rs1296290253
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1036del (p.Glu346fs)
|
|
|
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=)
|
rs566285864
|
|
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=)
|
rs566285864
|
|
NM_020533.3(MCOLN1):c.1056T>C (p.Asn352=)
|
rs2146024789
|
|
NM_020533.3(MCOLN1):c.1059C>G (p.Gly353=)
|
rs2146024794
|
|
NM_020533.3(MCOLN1):c.105C>A (p.Pro35=)
|
|
|
NM_020533.3(MCOLN1):c.1062G>T (p.Trp354Cys)
|
rs2146024799
|
|
NM_020533.3(MCOLN1):c.1071G>A (p.Leu357=)
|
|
|
NM_020533.3(MCOLN1):c.1073T>G (p.Leu358Arg)
|
|
|
NM_020533.3(MCOLN1):c.1075G>A (p.Val359Ile)
|
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
NM_020533.3(MCOLN1):c.1080C>T (p.Thr360=)
|
|
|
NM_020533.3(MCOLN1):c.1101G>A (p.Ser367=)
|
|
|
NM_020533.3(MCOLN1):c.1107C>T (p.Thr369=)
|
rs895301824
|
|
NM_020533.3(MCOLN1):c.1108A>G (p.Ile370Val)
|
rs769051317
|
|
NM_020533.3(MCOLN1):c.1110C>T (p.Ile370=)
|
rs376754721
|
|
NM_020533.3(MCOLN1):c.1116G>A (p.Lys372=)
|
rs1256912872
|
|
NM_020533.3(MCOLN1):c.1126G>A (p.Glu376Lys)
|
|
|
NM_020533.3(MCOLN1):c.1131C>A (p.Ala377=)
|
rs2146024862
|
|
NM_020533.3(MCOLN1):c.1134+14A>G
|
|
|
NM_020533.3(MCOLN1):c.1134+16A>G
|
|
|
NM_020533.3(MCOLN1):c.1134+20T>C
|
|
|
NM_020533.3(MCOLN1):c.1134+4C>T
|
|
|
NM_020533.3(MCOLN1):c.1134+8C>T
|
|
|
NM_020533.3(MCOLN1):c.1135-11C>T
|
|
|
NM_020533.3(MCOLN1):c.1135-14G>A
|
rs2022615978
|
|
NM_020533.3(MCOLN1):c.1135-16C>T
|
|
|
NM_020533.3(MCOLN1):c.1135-17G>A
|
|
|
NM_020533.3(MCOLN1):c.1135-1G>C
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1135-20G>A
|
|
|
NM_020533.3(MCOLN1):c.1135-4G>T
|
|
|
NM_020533.3(MCOLN1):c.1135-8A>G
|
rs1599255224
|
|
NM_020533.3(MCOLN1):c.1135-9C>G
|
|
|
NM_020533.3(MCOLN1):c.1137C>T (p.Asn379=)
|
|
|
NM_020533.3(MCOLN1):c.114G>A (p.Glu38=)
|
rs757653601
|
|
NM_020533.3(MCOLN1):c.1150G>A (p.Asp384Asn)
|
|
|
NM_020533.3(MCOLN1):c.1167C>T (p.Leu389=)
|
|
|
NM_020533.3(MCOLN1):c.1173C>T (p.Gly391=)
|
|
|
NM_020533.3(MCOLN1):c.1174A>G (p.Thr392Ala)
|
rs2022617347
|
|
NM_020533.3(MCOLN1):c.1176C>T (p.Thr392=)
|
rs2146025006
|
|
NM_020533.3(MCOLN1):c.1182G>C (p.Thr394=)
|
rs755029960
|
|
NM_020533.3(MCOLN1):c.1188G>A (p.Leu396=)
|
|
|
NM_020533.3(MCOLN1):c.1188G>T (p.Leu396=)
|
|
|
NM_020533.3(MCOLN1):c.1196T>A (p.Val399Glu)
|
rs2022617840
|
|
NM_020533.3(MCOLN1):c.1203G>C (p.Val401=)
|
rs2146025049
|
|
NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs)
|
|
|
NM_020533.3(MCOLN1):c.120C>T (p.Asp40=)
|
rs768172824
|
|
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)
|
rs797044822
|
|
NM_020533.3(MCOLN1):c.1212C>A (p.Tyr404Ter)
|
|
|
NM_020533.3(MCOLN1):c.1213C>T (p.Leu405=)
|
rs915699870
|
|
NM_020533.3(MCOLN1):c.1215G>C (p.Leu405=)
|
|
|
NM_020533.3(MCOLN1):c.1224C>T (p.Phe408=)
|
|
|
NM_020533.3(MCOLN1):c.1225C>G (p.His409Asp)
|
rs1186459229
|
|
NM_020533.3(MCOLN1):c.1227C>T (p.His409=)
|
rs1417929030
|
|
NM_020533.3(MCOLN1):c.1236+11C>T
|
|
|
NM_020533.3(MCOLN1):c.1236+13C>T
|
|
|
NM_020533.3(MCOLN1):c.1236+20C>T
|
|
|
NM_020533.3(MCOLN1):c.1237-10C>T
|
rs770530839
|
|
NM_020533.3(MCOLN1):c.1237-12G>C
|
|
|
NM_020533.3(MCOLN1):c.1237-14C>G
|
|
|
NM_020533.3(MCOLN1):c.1237-1G>A
|
rs2146025416
|
|
NM_020533.3(MCOLN1):c.1237-2A>C
|
rs2146025414
|
|
NM_020533.3(MCOLN1):c.1242C>T (p.Leu414=)
|
rs2146025420
|
|
NM_020533.3(MCOLN1):c.1247C>T (p.Ala416Val)
|
|
|
NM_020533.3(MCOLN1):c.1263C>G (p.Ala421=)
|
|
|
NM_020533.3(MCOLN1):c.1264C>T (p.Leu422=)
|
rs62111282
|
|
NM_020533.3(MCOLN1):c.1266G>A (p.Leu422=)
|
|
|
NM_020533.3(MCOLN1):c.1266G>T (p.Leu422=)
|
|
|
NM_020533.3(MCOLN1):c.1269C>G (p.Pro423=)
|
rs776281877
|
|
NM_020533.3(MCOLN1):c.1269C>T (p.Pro423=)
|
rs776281877
|
|
NM_020533.3(MCOLN1):c.1273G>A (p.Val425Ile)
|
|
|
NM_020533.3(MCOLN1):c.1284C>T (p.Phe428=)
|
|
|
NM_020533.3(MCOLN1):c.1294G>A (p.Val432Met)
|
|
|
NM_020533.3(MCOLN1):c.1296G>T (p.Val432=)
|
|
|
NM_020533.3(MCOLN1):c.1299T>C (p.Ala433=)
|
|
|
NM_020533.3(MCOLN1):c.129T>C (p.Arg43=)
|
|
|
NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=)
|
|
|
NM_020533.3(MCOLN1):c.1306T>C (p.Tyr436His)
|
|
|
NM_020533.3(MCOLN1):c.1308C>T (p.Tyr436=)
|
|
|
NM_020533.3(MCOLN1):c.1309C>T (p.Leu437=)
|
|
|
NM_020533.3(MCOLN1):c.1311G>C (p.Leu437=)
|
|
|
NM_020533.3(MCOLN1):c.1314C>A (p.Gly438=)
|
|
|
NM_020533.3(MCOLN1):c.1326T>C (p.Cys442=)
|
rs1439656162
|
|
NM_020533.3(MCOLN1):c.1329C>T (p.Gly443=)
|
rs2146025487
|
|
NM_020533.3(MCOLN1):c.132T>C (p.Arg44=)
|
|
|
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=)
|
rs764352100
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1338G>T (p.Val446=)
|
|
|
NM_020533.3(MCOLN1):c.1344G>A (p.Gly448=)
|
|
|
NM_020533.3(MCOLN1):c.1344G>C (p.Gly448=)
|
rs1568399908
|
|
NM_020533.3(MCOLN1):c.1347C>T (p.Pro449=)
|
|
|
NM_020533.3(MCOLN1):c.1359+10A>G
|
|
|
NM_020533.3(MCOLN1):c.1359+11C>T
|
|
|
NM_020533.3(MCOLN1):c.1359+12C>A
|
|
|
NM_020533.3(MCOLN1):c.1359+14C>G
|
|
|
NM_020533.3(MCOLN1):c.1359+15del
|
|
|
NM_020533.3(MCOLN1):c.1359+7C>A
|
rs2146025528
|
|
NM_020533.3(MCOLN1):c.1359+7_1359+8dup
|
rs528289665
|
|
NM_020533.3(MCOLN1):c.1359+8T>G
|
rs2146025533
|
|
NM_020533.3(MCOLN1):c.1360-14C>T
|
|
|
NM_020533.3(MCOLN1):c.1360-16G>T
|
|
|
NM_020533.3(MCOLN1):c.1360-17C>A
|
|
|
NM_020533.3(MCOLN1):c.1360-17C>G
|
|
|
NM_020533.3(MCOLN1):c.1360-17C>T
|
|
|
NM_020533.3(MCOLN1):c.1360-1G>T
|
|
|
NM_020533.3(MCOLN1):c.1360-9C>G
|
rs2146025974
|
|
NM_020533.3(MCOLN1):c.1365C>T (p.Arg455=)
|
|
|
NM_020533.3(MCOLN1):c.1371C>A (p.Leu457=)
|
rs1460653024
|
|
NM_020533.3(MCOLN1):c.1380G>A (p.Val460=)
|
rs2146025999
|
|
NM_020533.3(MCOLN1):c.1390C>T (p.Leu464=)
|
rs2022637355
|
|
NM_020533.3(MCOLN1):c.1404C>T (p.Ile468=)
|
|
|
NM_020533.3(MCOLN1):c.1410G>T (p.Gly470=)
|
|
|
NM_020533.3(MCOLN1):c.1415_1419del (p.Asp472fs)
|
|
|
NM_020533.3(MCOLN1):c.1417_1418del (p.Met473fs)
|
|
|
NM_020533.3(MCOLN1):c.1422T>C (p.Phe474=)
|
rs2146026029
|
|
NM_020533.3(MCOLN1):c.1425G>C (p.Val475=)
|
rs1232905791
|
|
NM_020533.3(MCOLN1):c.1439T>G (p.Met480Arg)
|
|
|
NM_020533.3(MCOLN1):c.1446G>A (p.Ala482=)
|
rs998552423
|
|
NM_020533.3(MCOLN1):c.1446G>T (p.Ala482=)
|
|
|
NM_020533.3(MCOLN1):c.144T>C (p.Phe48=)
|
|
|
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)
|
rs797044823
|
|
NM_020533.3(MCOLN1):c.1457G>A (p.Arg486His)
|
|
|
NM_020533.3(MCOLN1):c.1458C>T (p.Arg486=)
|
|
|
NM_020533.3(MCOLN1):c.1465C>T (p.Leu489=)
|
|
|
NM_020533.3(MCOLN1):c.1476C>G (p.Leu492=)
|
|
|
NM_020533.3(MCOLN1):c.1479C>T (p.Phe493=)
|
|
|
NM_020533.3(MCOLN1):c.1485G>A (p.Gln495=)
|
rs2146026119
|
|
NM_020533.3(MCOLN1):c.1494T>A (p.Leu498=)
|
|
|
NM_020533.3(MCOLN1):c.1512C>G (p.Leu504=)
|
|
|
NM_020533.3(MCOLN1):c.1518C>T (p.Ile506=)
|
|
|
NM_020533.3(MCOLN1):c.1548C>T (p.Leu516=)
|
rs530169769
|
|
NM_020533.3(MCOLN1):c.154C>G (p.Pro52Ala)
|
|
|
NM_020533.3(MCOLN1):c.1566C>T (p.Asp522=)
|
rs1214443140
|
|
NM_020533.3(MCOLN1):c.1569C>G (p.Thr523=)
|
rs2022640470
|
|
NM_020533.3(MCOLN1):c.1569C>T (p.Thr523=)
|
rs2022640470
|
|
NM_020533.3(MCOLN1):c.1569del (p.Ile524fs)
|
|
|
NM_020533.3(MCOLN1):c.1572C>T (p.Ile524=)
|
rs2146026201
|
|
NM_020533.3(MCOLN1):c.1575+10A>G
|
rs771168805
|
|
NM_020533.3(MCOLN1):c.1575+17C>T
|
|
|
NM_020533.3(MCOLN1):c.1575+7C>A
|
rs201375224
|
|
NM_020533.3(MCOLN1):c.1575+8G>C
|
rs372482475
|
|
NM_020533.3(MCOLN1):c.1575+8G>T
|
|
|
NM_020533.3(MCOLN1):c.1575+9C>T
|
|
|
NM_020533.3(MCOLN1):c.1576-13C>A
|
|
|
NM_020533.3(MCOLN1):c.1576-13C>T
|
|
|
NM_020533.3(MCOLN1):c.1576-15G>A
|
|
|
NM_020533.3(MCOLN1):c.1576-15G>C
|
|
|
NM_020533.3(MCOLN1):c.1576-16C>G
|
|
|
NM_020533.3(MCOLN1):c.1576-16C>T
|
|
|
NM_020533.3(MCOLN1):c.1576-17C>T
|
|
|
NM_020533.3(MCOLN1):c.1576-20C>G
|
|
|
NM_020533.3(MCOLN1):c.1576-20C>T
|
|
|
NM_020533.3(MCOLN1):c.1576-3dup
|
rs762591325
|
|
NM_020533.3(MCOLN1):c.1576-4C>A
|
|
|
NM_020533.3(MCOLN1):c.1576-4C>G
|
rs761220466
|
|
NM_020533.3(MCOLN1):c.1576-5C>T
|
rs775755004
|
|
NM_020533.3(MCOLN1):c.1576-6C>A
|
|
|
NM_020533.3(MCOLN1):c.1576-6C>T
|
rs1425980750
|
|
NM_020533.3(MCOLN1):c.1576-7T>C
|
rs202183736
|
|
NM_020533.3(MCOLN1):c.1576-7_1576-6delinsAT
|
rs2146029875
|
|
NM_020533.3(MCOLN1):c.1587C>T (p.Gly529=)
|
rs940473084
|
|
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=)
|
rs2022699936
|
|
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)
|
rs776845391
|
|
NM_020533.3(MCOLN1):c.15G>C (p.Ala5=)
|
|
|
NM_020533.3(MCOLN1):c.1605_1606del (p.Ser535fs)
|
|
|
NM_020533.3(MCOLN1):c.1620C>T (p.Tyr540=)
|
|
|
NM_020533.3(MCOLN1):c.1626A>C (p.Ala542=)
|
|
|
NM_020533.3(MCOLN1):c.1626A>G (p.Ala542=)
|
|
|
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)
|
rs1368027694
|
|
NM_020533.3(MCOLN1):c.1632C>T (p.Cys544=)
|
rs2146030069
|
|
NM_020533.3(MCOLN1):c.1644C>T (p.Pro548=)
|
|
|
NM_020533.3(MCOLN1):c.165del (p.Lys55fs)
|
rs2146021332
|
|
NM_020533.3(MCOLN1):c.1665C>T (p.Arg555=)
|
rs1180978786
|
|
NM_020533.3(MCOLN1):c.1668G>C (p.Gly556=)
|
rs2146030162
|
|
NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs)
|
rs2022549661
|
|
NM_020533.3(MCOLN1):c.1674C>T (p.Gly558=)
|
|
|
NM_020533.3(MCOLN1):c.1678G>T (p.Ala560Ser)
|
|
|
NM_020533.3(MCOLN1):c.1680C>G (p.Ala560=)
|
rs747365638
|
|
NM_020533.3(MCOLN1):c.1692C>G (p.Leu564=)
|
rs2146030255
|
|
NM_020533.3(MCOLN1):c.1692C>T (p.Leu564=)
|
rs2146030255
|
|
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)
|
rs765577483
|
|
NM_020533.3(MCOLN1):c.1700G>A (p.Cys567Tyr)
|
|
|
NM_020533.3(MCOLN1):c.1701C>T (p.Cys567=)
|
|
|
NM_020533.3(MCOLN1):c.1702G>A (p.Gly568Arg)
|
|
|
NM_020533.3(MCOLN1):c.1706+10C>T
|
|
|
NM_020533.3(MCOLN1):c.1706+13G>A
|
|
|
NM_020533.3(MCOLN1):c.1706+14dup
|
|
|
NM_020533.3(MCOLN1):c.1706+15T>A
|
|
|
NM_020533.3(MCOLN1):c.1706+4C>T
|
|
|
NM_020533.3(MCOLN1):c.1707-11C>T
|
|
|
NM_020533.3(MCOLN1):c.1707-13T>G
|
|
|
NM_020533.3(MCOLN1):c.1707-14C>T
|
rs541186661
|
|
NM_020533.3(MCOLN1):c.1707-17C>T
|
|
|
NM_020533.3(MCOLN1):c.1707-18C>T
|
|
|
NM_020533.3(MCOLN1):c.1707-19C>G
|
|
|
NM_020533.3(MCOLN1):c.1713C>A (p.Pro571=)
|
|
|
NM_020533.3(MCOLN1):c.1713C>T (p.Pro571=)
|
|
|
NM_020533.3(MCOLN1):c.1728G>T (p.Ser576=)
|
|
|
NM_020533.3(MCOLN1):c.1732C>T (p.Leu578=)
|
|
|
NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter)
|
rs2022550603
|
|
NM_020533.3(MCOLN1):c.195G>A (p.Lys65=)
|
|
|
NM_020533.3(MCOLN1):c.196C>G (p.Leu66Val)
|
|
|
NM_020533.3(MCOLN1):c.198G>C (p.Leu66=)
|
rs747815510
|
|
NM_020533.3(MCOLN1):c.198G>T (p.Leu66=)
|
|
|
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=)
|
rs1481445686
|
|
NM_020533.3(MCOLN1):c.207A>G (p.Gln69=)
|
|
|
NM_020533.3(MCOLN1):c.210G>A (p.Val70=)
|
rs2022550937
|
|
NM_020533.3(MCOLN1):c.213C>G (p.Val71=)
|
rs201157863
|
|
NM_020533.3(MCOLN1):c.219C>T (p.Ile73=)
|
|
|
NM_020533.3(MCOLN1):c.21G>T (p.Pro7=)
|
|
|
NM_020533.3(MCOLN1):c.225G>A (p.Val75=)
|
|
|
NM_020533.3(MCOLN1):c.230del (p.Thr77fs)
|
rs2146021402
|
|
NM_020533.3(MCOLN1):c.231G>A (p.Thr77=)
|
rs961311202
|
|
NM_020533.3(MCOLN1):c.231G>C (p.Thr77=)
|
|
|
NM_020533.3(MCOLN1):c.234G>A (p.Val78=)
|
rs1599252438
|
|
NM_020533.3(MCOLN1):c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
|
|
|
NM_020533.3(MCOLN1):c.237+15G>A
|
|
|
NM_020533.3(MCOLN1):c.237+16C>A
|
|
|
NM_020533.3(MCOLN1):c.237+16C>T
|
|
|
NM_020533.3(MCOLN1):c.237+18G>A
|
|
|
NM_020533.3(MCOLN1):c.237+8_237+9insG
|
rs1452359151
|
|
NM_020533.3(MCOLN1):c.238-10C>G
|
rs2146022369
|
|
NM_020533.3(MCOLN1):c.238-12C>A
|
|
|
NM_020533.3(MCOLN1):c.238-12C>T
|
|
|
NM_020533.3(MCOLN1):c.238-16A>G
|
|
|
NM_020533.3(MCOLN1):c.238-4C>T
|
rs1247052207
|
|
NM_020533.3(MCOLN1):c.238-5C>T
|
|
|
NM_020533.3(MCOLN1):c.248T>G (p.Phe83Cys)
|
|
|
NM_020533.3(MCOLN1):c.24C>A (p.Arg8=)
|
|
|
NM_020533.3(MCOLN1):c.252G>A (p.Gly84=)
|
rs2146022404
|
|
NM_020533.3(MCOLN1):c.252G>T (p.Gly84=)
|
rs2146022404
|
|
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=)
|
rs554380139
|
|
NM_020533.3(MCOLN1):c.271G>A (p.Val91Met)
|
|
|
NM_020533.3(MCOLN1):c.280C>A (p.Arg94=)
|
rs142665651
|
|
NM_020533.3(MCOLN1):c.291C>T (p.Asn97=)
|
rs1217132484
|
|
NM_020533.3(MCOLN1):c.297C>A (p.Ile99=)
|
|
|
NM_020533.3(MCOLN1):c.298G>A (p.Ala100Thr)
|
|
|
NM_020533.3(MCOLN1):c.31+10C>T
|
|
|
NM_020533.3(MCOLN1):c.31+13G>A
|
|
|
NM_020533.3(MCOLN1):c.31+13_31+32dup
|
|
|
NM_020533.3(MCOLN1):c.31+14C>T
|
|
|
NM_020533.3(MCOLN1):c.31+19C>T
|
|
|
NM_020533.3(MCOLN1):c.31+20C>T
|
|
|
NM_020533.3(MCOLN1):c.31+4_31+6dup
|
rs2146019220
|
|
NM_020533.3(MCOLN1):c.31+9G>A
|
rs2022513285
|
|
NM_020533.3(MCOLN1):c.318G>C (p.Leu106=)
|
|
|
NM_020533.3(MCOLN1):c.32-14T>G
|
|
|
NM_020533.3(MCOLN1):c.32-15C>T
|
|
|
NM_020533.3(MCOLN1):c.32-17C>A
|
|
|
NM_020533.3(MCOLN1):c.32-1G>C
|
rs2146021137
|
|
NM_020533.3(MCOLN1):c.32-5C>G
|
|
|
NM_020533.3(MCOLN1):c.32-7C>G
|
|
|
NM_020533.3(MCOLN1):c.32-7C>T
|
|
|
NM_020533.3(MCOLN1):c.32-9T>C
|
|
|
NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter)
|
|
|
NM_020533.3(MCOLN1):c.329C>T (p.Ser110Leu)
|
|
|
NM_020533.3(MCOLN1):c.330G>C (p.Ser110=)
|
rs373174724
|
|
NM_020533.3(MCOLN1):c.345C>T (p.Asp115=)
|
rs1431995988
|
|
NM_020533.3(MCOLN1):c.352G>A (p.Ala118Thr)
|
|
|
NM_020533.3(MCOLN1):c.360C>T (p.Tyr120=)
|
|
|
NM_020533.3(MCOLN1):c.367G>A (p.Glu123Lys)
|
rs754926117
|
|
NM_020533.3(MCOLN1):c.36C>G (p.Thr12=)
|
rs148187755
|
|
NM_020533.3(MCOLN1):c.375G>A (p.Leu125=)
|
|
|
NM_020533.3(MCOLN1):c.378C>T (p.Tyr126=)
|
|
|
NM_020533.3(MCOLN1):c.37G>A (p.Glu13Lys)
|
rs771709900
|
|
NM_020533.3(MCOLN1):c.381G>A (p.Gln127=)
|
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
NM_020533.3(MCOLN1):c.393T>C (p.His131=)
|
rs1196075625
|
|
NM_020533.3(MCOLN1):c.39G>A (p.Glu13=)
|
|
|
NM_020533.3(MCOLN1):c.405+13_405+30del
|
rs1475127440
|
|
NM_020533.3(MCOLN1):c.405+13_405+30dup
|
|
|
NM_020533.3(MCOLN1):c.405+17A>C
|
|
|
NM_020533.3(MCOLN1):c.405+19G>A
|
|
|
NM_020533.3(MCOLN1):c.405+1G>C
|
rs148748724
|
|
NM_020533.3(MCOLN1):c.405+23_405+58del
|
|
|
NM_020533.3(MCOLN1):c.405+23_406-61del
|
rs2146022564
|
|
NM_020533.3(MCOLN1):c.405+2T>C
|
rs2146022577
|
|
NM_020533.3(MCOLN1):c.405+31_406-71del
|
rs2146022588
|
|
NM_020533.3(MCOLN1):c.405+8_405+9del
|
|
|
NM_020533.3(MCOLN1):c.406-10C>T
|
rs2022576080
|
|
NM_020533.3(MCOLN1):c.406-12del
|
|
|
NM_020533.3(MCOLN1):c.406-15C>T
|
|
|
NM_020533.3(MCOLN1):c.406-18C>T
|
|
|
NM_020533.3(MCOLN1):c.406-1_417del
|
rs2146022784
|
|
NM_020533.3(MCOLN1):c.406-20C>T
|
|
|
NM_020533.3(MCOLN1):c.406-3C>T
|
|
|
NM_020533.3(MCOLN1):c.406-4A>G
|
rs1382589726
|
|
NM_020533.3(MCOLN1):c.406-5C>T
|
|
|
NM_020533.3(MCOLN1):c.408C>T (p.Tyr136=)
|
rs746077436
|
|
NM_020533.3(MCOLN1):c.40C>A (p.Arg14=)
|
|
|
NM_020533.3(MCOLN1):c.414G>T (p.Ala138=)
|
rs780538809
|
|
NM_020533.3(MCOLN1):c.419del (p.Pro140fs)
|
rs2146022798
|
|
NM_020533.3(MCOLN1):c.432G>A (p.Leu144=)
|
|
|
NM_020533.3(MCOLN1):c.437G>A (p.Arg146Gln)
|
|
|
NM_020533.3(MCOLN1):c.438G>A (p.Arg146=)
|
|
|
NM_020533.3(MCOLN1):c.444G>T (p.Ala148=)
|
|
|
NM_020533.3(MCOLN1):c.447T>C (p.Tyr149=)
|
|
|
NM_020533.3(MCOLN1):c.452G>A (p.Arg151His)
|
rs140148914
|
|
NM_020533.3(MCOLN1):c.457G>A (p.Gly153Arg)
|
|
|
NM_020533.3(MCOLN1):c.459G>C (p.Gly153=)
|
|
|
NM_020533.3(MCOLN1):c.45T>G (p.Leu15=)
|
|
|
NM_020533.3(MCOLN1):c.465C>T (p.Asp155=)
|
rs2146022844
|
|
NM_020533.3(MCOLN1):c.467C>T (p.Pro156Leu)
|
rs539045232
|
|
NM_020533.3(MCOLN1):c.46C>T (p.Leu16=)
|
|
|
NM_020533.3(MCOLN1):c.477T>C (p.Asn159=)
|
|
|
NM_020533.3(MCOLN1):c.483A>G (p.Ser161=)
|
rs2146022857
|
|
NM_020533.3(MCOLN1):c.495C>G (p.Leu165=)
|
|
|
NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)
|
rs1056159821
|
|
NM_020533.3(MCOLN1):c.504del (p.Tyr169fs)
|
rs2146022877
|
|
NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter)
|
rs896210352
|
|
NM_020533.3(MCOLN1):c.507del (p.Tyr170fs)
|
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.519C>G (p.Gly173=)
|
rs2146022898
|
|
NM_020533.3(MCOLN1):c.528C>T (p.Asp176=)
|
|
|
NM_020533.3(MCOLN1):c.543A>G (p.Thr181=)
|
rs2146022923
|
|
NM_020533.3(MCOLN1):c.54C>T (p.Pro18=)
|
|
|
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)
|
rs1057516602
|
|
NM_020533.3(MCOLN1):c.571+12G>C
|
|
|
NM_020533.3(MCOLN1):c.571+13G>A
|
|
|
NM_020533.3(MCOLN1):c.571+14A>G
|
|
|
NM_020533.3(MCOLN1):c.571+15C>G
|
|
|
NM_020533.3(MCOLN1):c.571+15C>T
|
|
|
NM_020533.3(MCOLN1):c.571+19G>A
|
|
|
NM_020533.3(MCOLN1):c.572-11C>G
|
|
|
NM_020533.3(MCOLN1):c.572-15A>C
|
|
|
NM_020533.3(MCOLN1):c.572-17T>C
|
|
|
NM_020533.3(MCOLN1):c.572-18C>G
|
|
|
NM_020533.3(MCOLN1):c.572-2A>C
|
rs2146023425
|
|
NM_020533.3(MCOLN1):c.572-5C>G
|
|
|
NM_020533.3(MCOLN1):c.572-9T>C
|
|
|
NM_020533.3(MCOLN1):c.573C>T (p.Asp191=)
|
rs2146023426
|
|
NM_020533.3(MCOLN1):c.576C>T (p.Cys192=)
|
|
|
NM_020533.3(MCOLN1):c.57C>T (p.Asn19=)
|
rs765306710
|
|
NM_020533.3(MCOLN1):c.585G>A (p.Val195=)
|
rs753009764
|
|
NM_020533.3(MCOLN1):c.585G>T (p.Val195=)
|
|
|
NM_020533.3(MCOLN1):c.589C>A (p.Pro197Thr)
|
rs145706318
|
|
NM_020533.3(MCOLN1):c.594C>G (p.Pro198=)
|
rs377757971
|
|
NM_020533.3(MCOLN1):c.594C>T (p.Pro198=)
|
rs377757971
|
|
NM_020533.3(MCOLN1):c.594del (p.Glu199fs)
|
rs1349755445
|
|
NM_020533.3(MCOLN1):c.597G>A (p.Glu199=)
|
rs2146023464
|
|
NM_020533.3(MCOLN1):c.598C>A (p.Arg200=)
|
|
|
NM_020533.3(MCOLN1):c.598C>T (p.Arg200Trp)
|
|
|
NM_020533.3(MCOLN1):c.600G>T (p.Arg200=)
|
rs2022589520
|
|
NM_020533.3(MCOLN1):c.601C>T (p.Pro201Ser)
|
rs2146023474
|
|
NM_020533.3(MCOLN1):c.603C>T (p.Pro201=)
|
rs2146023479
|
|
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
|
|
|
NM_020533.3(MCOLN1):c.609G>T (p.Pro203=)
|
rs987069104
|
|
NM_020533.3(MCOLN1):c.60C>G (p.Pro20=)
|
|
|
NM_020533.3(MCOLN1):c.611C>T (p.Pro204Leu)
|
rs932130349
|
|
NM_020533.3(MCOLN1):c.614C>A (p.Pro205His)
|
|
|
NM_020533.3(MCOLN1):c.615C>T (p.Pro205=)
|
rs1244521625
|
|
NM_020533.3(MCOLN1):c.615dup (p.Ser206fs)
|
rs886041533
|
|
NM_020533.3(MCOLN1):c.61G>A (p.Gly21Arg)
|
rs756440792
|
|
NM_020533.3(MCOLN1):c.627C>A (p.Leu209=)
|
rs2146023555
|
|
NM_020533.3(MCOLN1):c.627C>T (p.Leu209=)
|
|
|
NM_020533.3(MCOLN1):c.639A>G (p.Glu213=)
|
rs1302834128
|
|
NM_020533.3(MCOLN1):c.63G>T (p.Gly21=)
|
rs754263664
|
|
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=)
|
rs2146023575
|
|
NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter)
|
rs757685298
|
|
NM_020533.3(MCOLN1):c.65A>G (p.Tyr22Cys)
|
|
|
NM_020533.3(MCOLN1):c.660C>T (p.Asn220=)
|
|
|
NM_020533.3(MCOLN1):c.663C>T (p.Leu221=)
|
|
|
NM_020533.3(MCOLN1):c.66T>C (p.Tyr22=)
|
rs2146021205
|
|
NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter)
|
rs2146021205
|
|
NM_020533.3(MCOLN1):c.678C>T (p.His226=)
|
rs2146023608
|
|
NM_020533.3(MCOLN1):c.680+10G>A
|
rs2146023626
|
|
NM_020533.3(MCOLN1):c.680+13C>T
|
|
|
NM_020533.3(MCOLN1):c.680+17C>T
|
|
|
NM_020533.3(MCOLN1):c.680+18G>A
|
|
|
NM_020533.3(MCOLN1):c.680+19A>C
|
|
|
NM_020533.3(MCOLN1):c.680+1G>A
|
rs1599254152
|
|
NM_020533.3(MCOLN1):c.680+20G>C
|
|
|
NM_020533.3(MCOLN1):c.681-12C>A
|
|
|
NM_020533.3(MCOLN1):c.681-12C>T
|
|
|
NM_020533.3(MCOLN1):c.681-16C>T
|
|
|
NM_020533.3(MCOLN1):c.681-18C>G
|
|
|
NM_020533.3(MCOLN1):c.681-18C>T
|
|
|
NM_020533.3(MCOLN1):c.681-1G>C
|
|
|
NM_020533.3(MCOLN1):c.681-7T>G
|
|
|
NM_020533.3(MCOLN1):c.682C>T (p.Leu228=)
|
|
|
NM_020533.3(MCOLN1):c.690T>C (p.Asn230=)
|
|
|
NM_020533.3(MCOLN1):c.6A>G (p.Thr2=)
|
rs2146019165
|
|
NM_020533.3(MCOLN1):c.702C>T (p.His234=)
|
|
|
NM_020533.3(MCOLN1):c.705C>T (p.Phe235=)
|
rs2022595761
|
|
NM_020533.3(MCOLN1):c.711G>C (p.Leu237=)
|
rs2146023938
|
|
NM_020533.3(MCOLN1):c.717C>A (p.Thr239=)
|
|
|
NM_020533.3(MCOLN1):c.717C>G (p.Thr239=)
|
|
|
NM_020533.3(MCOLN1):c.723C>T (p.Asn241=)
|
rs758402044
|
|
NM_020533.3(MCOLN1):c.724del (p.Leu242fs)
|
rs2146023956
|
|
NM_020533.3(MCOLN1):c.737T>A (p.Ile246Asn)
|
|
|
NM_020533.3(MCOLN1):c.744T>C (p.Asn248=)
|
|
|
NM_020533.3(MCOLN1):c.750C>T (p.Ile250=)
|
|
|
NM_020533.3(MCOLN1):c.753G>C (p.Pro251=)
|
rs756314123
|
|
NM_020533.3(MCOLN1):c.762T>G (p.Tyr254Ter)
|
|
|
NM_020533.3(MCOLN1):c.765C>T (p.Thr255=)
|
rs2146023990
|
|
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg)
|
rs113261161
|
|
NM_020533.3(MCOLN1):c.771C>T (p.Ser257=)
|
rs113261161
|
|
NM_020533.3(MCOLN1):c.777+10C>G
|
rs746372828
|
|
NM_020533.3(MCOLN1):c.777+10C>T
|
rs746372828
|
|
NM_020533.3(MCOLN1):c.777+12C>G
|
|
|
NM_020533.3(MCOLN1):c.777+12C>T
|
|
|
NM_020533.3(MCOLN1):c.777+12del
|
rs563339019
|
|
NM_020533.3(MCOLN1):c.777+12dup
|
rs563339019
|
|
NM_020533.3(MCOLN1):c.777+19C>G
|
|
|
NM_020533.3(MCOLN1):c.777+1G>C
|
rs1057518781
|
|
NM_020533.3(MCOLN1):c.777+20C>T
|
|
|
NM_020533.3(MCOLN1):c.777+7C>A
|
|
|
NM_020533.3(MCOLN1):c.777+7C>G
|
|
|
NM_020533.3(MCOLN1):c.777+7C>T
|
|
|
NM_020533.3(MCOLN1):c.777+8C>T
|
rs1371041607
|
|
NM_020533.3(MCOLN1):c.778-10G>A
|
|
|
NM_020533.3(MCOLN1):c.778-14del
|
|
|
NM_020533.3(MCOLN1):c.778-16C>T
|
|
|
NM_020533.3(MCOLN1):c.778-17C>A
|
|
|
NM_020533.3(MCOLN1):c.778-4A>G
|
|
|
NM_020533.3(MCOLN1):c.778-5C>A
|
|
|
NM_020533.3(MCOLN1):c.778-5C>T
|
rs1307955596
|
|
NM_020533.3(MCOLN1):c.778-5dup
|
|
|
NM_020533.3(MCOLN1):c.778-6C>T
|
rs2146024174
|
|
NM_020533.3(MCOLN1):c.778-9C>T
|
|
|
NM_020533.3(MCOLN1):c.77C>T (p.Ala26Val)
|
|
|
NM_020533.3(MCOLN1):c.780C>T (p.Ile260=)
|
|
|
NM_020533.3(MCOLN1):c.78G>T (p.Ala26=)
|
rs746629838
|
|
NM_020533.3(MCOLN1):c.798A>G (p.Ala266=)
|
|
|
NM_020533.3(MCOLN1):c.804T>C (p.Ser268=)
|
|
|
NM_020533.3(MCOLN1):c.807G>A (p.Gly269=)
|
rs2146024202
|
|
NM_020533.3(MCOLN1):c.809G>A (p.Arg270Gln)
|
|
|
NM_020533.3(MCOLN1):c.810G>T (p.Arg270=)
|
|
|
NM_020533.3(MCOLN1):c.81G>T (p.Gly27=)
|
rs372370104
|
|
NM_020533.3(MCOLN1):c.822C>T (p.Ser274=)
|
|
|
NM_020533.3(MCOLN1):c.825G>C (p.Leu275=)
|
|
|
NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter)
|
|
|
NM_020533.3(MCOLN1):c.838C>T (p.His280Tyr)
|
|
|
NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter)
|
rs2146024231
|
|
NM_020533.3(MCOLN1):c.846G>A (p.Gln282=)
|
rs2022600463
|
|
NM_020533.3(MCOLN1):c.858C>T (p.His286=)
|
rs1295237494
|
|
NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter)
|
|
|
NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer)
|
rs2022601213
|
|
NM_020533.3(MCOLN1):c.877+10T>A
|
|
|
NM_020533.3(MCOLN1):c.877+11G>A
|
|
|
NM_020533.3(MCOLN1):c.877+7C>A
|
|
|
NM_020533.3(MCOLN1):c.877+7C>T
|
|
|
NM_020533.3(MCOLN1):c.877G>C (p.Gly293Arg)
|
|
|
NM_020533.3(MCOLN1):c.878-13G>T
|
|
|
NM_020533.3(MCOLN1):c.878-14T>G
|
|
|
NM_020533.3(MCOLN1):c.878-15C>T
|
|
|
NM_020533.3(MCOLN1):c.878-17C>T
|
|
|
NM_020533.3(MCOLN1):c.878-18G>A
|
|
|
NM_020533.3(MCOLN1):c.878-18_878-10del
|
|
|
NM_020533.3(MCOLN1):c.878-20C>A
|
|
|
NM_020533.3(MCOLN1):c.878-8C>T
|
rs2146024511
|
|
NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs)
|
rs2022607233
|
|
NM_020533.3(MCOLN1):c.897C>G (p.Leu299=)
|
rs781689314
|
|
NM_020533.3(MCOLN1):c.898C>T (p.Leu300=)
|
rs1257662413
|
|
NM_020533.3(MCOLN1):c.900G>C (p.Leu300=)
|
|
|
NM_020533.3(MCOLN1):c.902T>C (p.Phe301Ser)
|
|
|
NM_020533.3(MCOLN1):c.907G>A (p.Val303Met)
|
|
|
NM_020533.3(MCOLN1):c.909G>C (p.Val303=)
|
|
|
NM_020533.3(MCOLN1):c.933G>A (p.Leu311=)
|
rs966716196
|
|
NM_020533.3(MCOLN1):c.93C>T (p.Ala31=)
|
rs1599252290
|
|
NM_020533.3(MCOLN1):c.940del (p.Leu314fs)
|
|
|
NM_020533.3(MCOLN1):c.945C>T (p.Leu315=)
|
rs1230119281
|
|
NM_020533.3(MCOLN1):c.948dup (p.Ala317fs)
|
rs2146024554
|
|
NM_020533.3(MCOLN1):c.954C>T (p.Arg318=)
|
|
|
NM_020533.3(MCOLN1):c.957A>G (p.Ser319=)
|
rs1208758395
|
|
NM_020533.3(MCOLN1):c.957A>T (p.Ser319=)
|
|
|
NM_020533.3(MCOLN1):c.95dup (p.Pro33fs)
|
rs2022547761
|
|
NM_020533.3(MCOLN1):c.960C>T (p.Leu320=)
|
|
|
NM_020533.3(MCOLN1):c.966A>T (p.Arg322=)
|
rs61736600
|
|
NM_020533.3(MCOLN1):c.969C>T (p.Gly323=)
|
rs2146024586
|
|
NM_020533.3(MCOLN1):c.973_984+10del
|
rs779141908
|
|
NM_020533.3(MCOLN1):c.975G>C (p.Leu325=)
|
rs2146024591
|
|
NM_020533.3(MCOLN1):c.978G>A (p.Leu326=)
|
rs2146024595
|
|
NM_020533.3(MCOLN1):c.980A>G (p.Gln327Arg)
|
|
|
NM_020533.3(MCOLN1):c.984+11T>C
|
|
|
NM_020533.3(MCOLN1):c.984+11T>G
|
|
|
NM_020533.3(MCOLN1):c.984+13C>G
|
|
|
NM_020533.3(MCOLN1):c.984+14G>A
|
rs370661580
|
|
NM_020533.3(MCOLN1):c.984+16C>T
|
|
|
NM_020533.3(MCOLN1):c.984+17A>T
|
|
|
NM_020533.3(MCOLN1):c.984+18T>C
|
|
|
NM_020533.3(MCOLN1):c.984+19G>A
|
|
|
NM_020533.3(MCOLN1):c.984+6G>C
|
|
|
NM_020533.3(MCOLN1):c.984+8T>C
|
rs2146024612
|
|
NM_020533.3(MCOLN1):c.984+8T>G
|
|
|
NM_020533.3(MCOLN1):c.985-15G>A
|
|
|
NM_020533.3(MCOLN1):c.985-15G>C
|
rs199860642
|
|
NM_020533.3(MCOLN1):c.985-16C>T
|
|
|
NM_020533.3(MCOLN1):c.985-19C>T
|
|
|
NM_020533.3(MCOLN1):c.985-9C>T
|
|
|
NM_020533.3(MCOLN1):c.996G>T (p.Gly332=)
|
|
|
NM_020533.3(MCOLN1):c.999C>T (p.Phe333=)
|
rs2146024716
|
|
NM_020533.3(MCOLN1):c.9C>T (p.Ala3=)
|
rs2146019172
|
|