ClinVar Miner

List of variants studied for Mucolipidosis type IV by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 708
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.