ClinVar Miner

List of variants studied for mucosulfatidosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 632
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808 0.01279
NM_182760.4(SUMF1):c.841-14G>A rs9852367 0.00720
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351 0.00080
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939 0.00073
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_182760.4(SUMF1):c.212C>T (p.Ser71Leu) rs375739887 0.00038
NM_182760.4(SUMF1):c.22C>T (p.Leu8=) rs769257869 0.00036
NM_182760.4(SUMF1):c.955-17T>G rs374945651 0.00034
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_182760.4(SUMF1):c.602+12C>T rs200971871 0.00029
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.215G>T (p.Arg72Leu) rs567209740 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile) rs764215221 0.00011
NM_182760.4(SUMF1):c.797C>T (p.Pro266Leu) rs763243827 0.00011
NM_182760.4(SUMF1):c.841-16C>G rs376880649 0.00010
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_182760.4(SUMF1):c.528T>C (p.Ala176=) rs138269123 0.00009
NM_182760.4(SUMF1):c.445-16C>T rs373525151 0.00008
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala) rs141447969 0.00008
NM_182760.4(SUMF1):c.192G>C (p.Ser64=) rs770050124 0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132 0.00006
NM_182760.4(SUMF1):c.271-7A>G rs371283922 0.00006
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe) rs552583949 0.00006
NM_182760.4(SUMF1):c.1015-10C>G rs142980345 0.00005
NM_182760.4(SUMF1):c.1034G>A (p.Arg345His) rs139267495 0.00004
NM_182760.4(SUMF1):c.1076C>T (p.Ser359Leu) rs137852844 0.00004
NM_182760.4(SUMF1):c.183T>C (p.His61=) rs763328846 0.00004
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp) rs753398300 0.00004
NM_182760.4(SUMF1):c.321G>T (p.Gln107His) rs199741767 0.00004
NM_182760.4(SUMF1):c.376A>C (p.Met126Leu) rs144327900 0.00004
NM_182760.4(SUMF1):c.505A>C (p.Asn169His) rs377536906 0.00004
NM_182760.4(SUMF1):c.532C>G (p.Pro178Ala) rs572034731 0.00004
NM_182760.4(SUMF1):c.602+1G>A rs143616931 0.00004
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala) rs150870957 0.00004
NM_182760.4(SUMF1):c.681G>A (p.Thr227=) rs373658479 0.00004
NM_182760.4(SUMF1):c.726-14G>T rs370793169 0.00004
NM_182760.4(SUMF1):c.837G>A (p.Ala279=) rs150925824 0.00004
NM_182760.4(SUMF1):c.270+10C>G rs567205880 0.00003
NM_182760.4(SUMF1):c.301A>G (p.Met101Val) rs750960451 0.00003
NM_182760.4(SUMF1):c.519+7A>T rs780191552 0.00003
NM_182760.4(SUMF1):c.593T>C (p.Ile198Thr) rs545327769 0.00003
NM_182760.4(SUMF1):c.641C>T (p.Ala214Val) rs367628085 0.00003
NM_182760.4(SUMF1):c.663A>C (p.Ala221=) rs756709971 0.00003
NM_182760.4(SUMF1):c.690G>A (p.Glu230=) rs1469354700 0.00003
NM_182760.4(SUMF1):c.1004T>C (p.Met335Thr) rs767157911 0.00002
NM_182760.4(SUMF1):c.1014+12C>T rs776947608 0.00002
NM_182760.4(SUMF1):c.1083G>C (p.Leu361=) rs759834654 0.00002
NM_182760.4(SUMF1):c.139G>A (p.Ala47Thr) rs368821807 0.00002
NM_182760.4(SUMF1):c.140C>A (p.Ala47Glu) rs779961693 0.00002
NM_182760.4(SUMF1):c.221C>G (p.Ala74Gly) rs750170847 0.00002
NM_182760.4(SUMF1):c.234C>A (p.Gly78=) rs763565087 0.00002
NM_182760.4(SUMF1):c.271-6T>C rs367702592 0.00002
NM_182760.4(SUMF1):c.333T>C (p.Asp111=) rs760961343 0.00002
NM_182760.4(SUMF1):c.444+10T>C rs767579698 0.00002
NM_182760.4(SUMF1):c.459C>T (p.Gly153=) rs148557574 0.00002
NM_182760.4(SUMF1):c.616G>A (p.Val206Ile) rs1303958118 0.00002
NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp) rs759888604 0.00002
NM_182760.4(SUMF1):c.675G>A (p.Leu225=) rs774764639 0.00002
NM_182760.4(SUMF1):c.680C>T (p.Thr227Met) rs566145117 0.00002
NM_182760.4(SUMF1):c.726-10C>T rs1320187586 0.00002
NM_182760.4(SUMF1):c.798G>A (p.Pro266=) rs760610426 0.00002
NM_182760.4(SUMF1):c.801G>C (p.Val267=) rs775505041 0.00002
NM_182760.4(SUMF1):c.873A>G (p.Leu291=) rs761398924 0.00002
NM_182760.4(SUMF1):c.952C>T (p.Pro318Ser) rs201462109 0.00002
NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=) rs752362094 0.00001
NM_182760.4(SUMF1):c.1015-5C>T rs772322962 0.00001
NM_182760.4(SUMF1):c.1015-6A>G rs368707139 0.00001
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852 0.00001
NM_182760.4(SUMF1):c.1039G>T (p.Ala347Ser) rs755981501 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847 0.00001
NM_182760.4(SUMF1):c.10C>G (p.Pro4Ala) rs1420466361 0.00001
NM_182760.4(SUMF1):c.1101C>T (p.Ala367=) rs372359337 0.00001
NM_182760.4(SUMF1):c.122C>T (p.Ala41Val) rs748192389 0.00001
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576 0.00001
NM_182760.4(SUMF1):c.142G>C (p.Gly48Arg) rs758168390 0.00001
NM_182760.4(SUMF1):c.147T>C (p.Ser49=) rs1001732098 0.00001
NM_182760.4(SUMF1):c.158G>T (p.Gly53Val) rs1258161162 0.00001
NM_182760.4(SUMF1):c.170G>A (p.Arg57Gln) rs569124341 0.00001
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521 0.00001
NM_182760.4(SUMF1):c.180C>T (p.Ala60=) rs771318056 0.00001
NM_182760.4(SUMF1):c.18A>G (p.Leu6=) rs146730930 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680 0.00001
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer) rs2079966666 0.00001
NM_182760.4(SUMF1):c.267A>C (p.Ser89=) rs975694131 0.00001
NM_182760.4(SUMF1):c.279C>A (p.Pro93=) rs1224114746 0.00001
NM_182760.4(SUMF1):c.30T>C (p.Cys10=) rs746169425 0.00001
NM_182760.4(SUMF1):c.324A>T (p.Ile108=) rs754246751 0.00001
NM_182760.4(SUMF1):c.348G>A (p.Ala116=) rs774360387 0.00001
NM_182760.4(SUMF1):c.358dup (p.Thr120fs) rs867197652 0.00001
NM_182760.4(SUMF1):c.369C>A (p.Ala123=) rs1282092468 0.00001
NM_182760.4(SUMF1):c.369C>G (p.Ala123=) rs1282092468 0.00001
NM_182760.4(SUMF1):c.432C>T (p.Gly144=) rs754308080 0.00001
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520 0.00001
NM_182760.4(SUMF1):c.441A>G (p.Thr147=) rs1703019136 0.00001
NM_182760.4(SUMF1):c.444+3A>G rs756510150 0.00001
NM_182760.4(SUMF1):c.445-1G>A rs1237016251 0.00001
NM_182760.4(SUMF1):c.445-2A>G rs1293658639 0.00001
NM_182760.4(SUMF1):c.445-8C>T rs1293474854 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=) rs1460272243 0.00001
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr) rs375792563 0.00001
NM_182760.4(SUMF1):c.484T>C (p.Leu162=) rs1454575389 0.00001
NM_182760.4(SUMF1):c.48G>C (p.Leu16=) rs921740271 0.00001
NM_182760.4(SUMF1):c.517G>T (p.Ala173Ser) rs755329565 0.00001
NM_182760.4(SUMF1):c.525A>G (p.Ala175=) rs1390813035 0.00001
NM_182760.4(SUMF1):c.54C>T (p.Leu18=) rs754825158 0.00001
NM_182760.4(SUMF1):c.555C>T (p.Gly185=) rs181861563 0.00001
NM_182760.4(SUMF1):c.57C>T (p.Val19=) rs766190895 0.00001
NM_182760.4(SUMF1):c.602+10G>T rs376667963 0.00001
NM_182760.4(SUMF1):c.623A>G (p.His208Arg) rs1346873498 0.00001
NM_182760.4(SUMF1):c.624T>C (p.His208=) rs1281193003 0.00001
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171 0.00001
NM_182760.4(SUMF1):c.651C>T (p.Tyr217=) rs769168292 0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854 0.00001
NM_182760.4(SUMF1):c.661G>A (p.Ala221Thr) rs764755839 0.00001
NM_182760.4(SUMF1):c.699C>T (p.Tyr233=) rs1701772060 0.00001
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter) rs748169616 0.00001
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102 0.00001
NM_182760.4(SUMF1):c.725+14C>T rs370203683 0.00001
NM_182760.4(SUMF1):c.726-16G>C rs999626972 0.00001
NM_182760.4(SUMF1):c.748C>T (p.Leu250=) rs1395835246 0.00001
NM_182760.4(SUMF1):c.765G>A (p.Gln255=) rs1701743866 0.00001
NM_182760.4(SUMF1):c.78G>A (p.Ser26=) rs534380202 0.00001
NM_182760.4(SUMF1):c.804C>G (p.Thr268=) rs949880533 0.00001
NM_182760.4(SUMF1):c.811G>A (p.Gly271Ser) rs777356483 0.00001
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly) rs772711848 0.00001
NM_182760.4(SUMF1):c.840+20C>T rs752710112 0.00001
NM_182760.4(SUMF1):c.841-12C>G rs767526524 0.00001
NM_182760.4(SUMF1):c.84G>T (p.Leu28=) rs2079976854 0.00001
NM_182760.4(SUMF1):c.855T>A (p.Pro285=) rs751514235 0.00001
NM_182760.4(SUMF1):c.876C>T (p.Tyr292=) rs369648085 0.00001
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515 0.00001
NM_182760.4(SUMF1):c.892G>A (p.Ala298Thr) rs1249221556 0.00001
NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter) rs1274564118 0.00001
NM_182760.4(SUMF1):c.935T>C (p.Val312Ala) rs1701517964 0.00001
NM_182760.4(SUMF1):c.955-1G>T rs1247498705 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4461840_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.11:g.(?_4403818)_(4508939_?)del
NC_000003.11:g.(?_4403828)_(4403958_?)del
NC_000003.11:g.(?_4403828)_(4403958_?)dup
NC_000003.11:g.(?_4403828)_(4491044_?)dup
NC_000003.11:g.(?_4403828)_(4508929_?)del
NC_000003.11:g.(?_4403828)_(4562798_?)dup
NC_000003.11:g.(?_4403828)_(4887909_?)dup
NC_000003.11:g.(?_4452529)_(4461850_?)dup
NC_000003.11:g.(?_4452529)_(4494753_?)del
NC_000003.11:g.(?_4458792)_(4491044_?)del
NC_000003.11:g.(?_4461738)_(4461840_?)del
NC_000003.11:g.(?_4490930)_(4494753_?)del
NC_000003.11:g.(?_4490930)_(4887909_?)dup
NC_000003.11:g.(?_4490940)_(4491034_?)del
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4494540)_(4494753_?)del
NC_000003.11:g.(?_4494540)_(4562798_?)dup
NC_000003.11:g.(?_4508640)_(4508929_?)del
NC_000003.11:g.(?_4508657)_(4508905_?)del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NM_182760.4(SUMF1):c.-17_4del (p.Met1_Ala2del)
NM_182760.4(SUMF1):c.1003A>G (p.Met335Val) rs2124845082
NM_182760.4(SUMF1):c.1014+15T>C
NM_182760.4(SUMF1):c.1014+16A>G
NM_182760.4(SUMF1):c.1014+19C>A
NM_182760.4(SUMF1):c.1014+20T>A rs2124844766
NM_182760.4(SUMF1):c.1014+3A>G rs2124844932
NM_182760.4(SUMF1):c.1014+7C>T rs2124844920
NM_182760.4(SUMF1):c.1014+9T>C rs2124844869
NM_182760.4(SUMF1):c.1014+9_1014+12dup
NM_182760.4(SUMF1):c.1014+9del rs2124844891
NM_182760.4(SUMF1):c.1015-10C>T rs142980345
NM_182760.4(SUMF1):c.1015-12C>G rs932798229
NM_182760.4(SUMF1):c.1015-12C>T
NM_182760.4(SUMF1):c.1015-13T>G
NM_182760.4(SUMF1):c.1015-16C>G
NM_182760.4(SUMF1):c.1015-17T>A rs1181112870
NM_182760.4(SUMF1):c.1015-17T>C
NM_182760.4(SUMF1):c.1015-20T>G
NM_182760.4(SUMF1):c.1015-3_1015-2del rs1559245013
NM_182760.4(SUMF1):c.1015-4A>G rs1699789348
NM_182760.4(SUMF1):c.1015-9T>C
NM_182760.4(SUMF1):c.1017T>G (p.Ser339=)
NM_182760.4(SUMF1):c.1020T>C (p.Tyr340=)
NM_182760.4(SUMF1):c.1021T>G (p.Cys341Gly)
NM_182760.4(SUMF1):c.1022G>A (p.Cys341Tyr) rs745986003
NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter)
NM_182760.4(SUMF1):c.102C>T (p.Ser34=) rs1575266809
NM_182760.4(SUMF1):c.1035C>T (p.Arg345=)
NM_182760.4(SUMF1):c.1038T>C (p.Cys346=) rs1317999063
NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)
NM_182760.4(SUMF1):c.1040del (p.Ala347fs) rs2125176154
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro) rs137852853
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)
NM_182760.4(SUMF1):c.1047G>C (p.Arg349=)
NM_182760.4(SUMF1):c.1056C>G (p.Asn352Lys)
NM_182760.4(SUMF1):c.1056C>T (p.Asn352=)
NM_182760.4(SUMF1):c.1065T>C (p.Asp355=) rs2125176058
NM_182760.4(SUMF1):c.1068C>T (p.Ser356=)
NM_182760.4(SUMF1):c.1070C>A (p.Ser357Tyr) rs1489482200
NM_182760.4(SUMF1):c.1072G>A (p.Ala358Thr)
NM_182760.4(SUMF1):c.1074T>C (p.Ala358=)
NM_182760.4(SUMF1):c.1081C>T (p.Leu361=)
NM_182760.4(SUMF1):c.1087T>G (p.Phe363Val)
NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp)
NM_182760.4(SUMF1):c.1090C>T (p.Arg364Cys)
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His) rs1699785405
NM_182760.4(SUMF1):c.1102G>A (p.Asp368Asn)
NM_182760.4(SUMF1):c.1105C>T (p.Arg369Cys)
NM_182760.4(SUMF1):c.1106G>A (p.Arg369His)
NM_182760.4(SUMF1):c.1107C>T (p.Arg369=) rs2125175808
NM_182760.4(SUMF1):c.1110G>T (p.Leu370=)
NM_182760.4(SUMF1):c.111C>G (p.Ala37=)
NM_182760.4(SUMF1):c.111C>T (p.Ala37=)
NM_182760.4(SUMF1):c.1124G>A (p.Ter375=) rs1254213543
NM_182760.4(SUMF1):c.114G>A (p.Gly38=)
NM_182760.4(SUMF1):c.117C>G (p.Thr39=) rs2079975522
NM_182760.4(SUMF1):c.117C>T (p.Thr39=) rs2079975522
NM_182760.4(SUMF1):c.120T>A (p.Gly40=)
NM_182760.4(SUMF1):c.123G>A (p.Ala41=) rs2124823904
NM_182760.4(SUMF1):c.12C>G (p.Pro4=) rs2124825652
NM_182760.4(SUMF1):c.12C>T (p.Pro4=) rs2124825652
NM_182760.4(SUMF1):c.132G>A (p.Gly44=)
NM_182760.4(SUMF1):c.138T>C (p.Leu46=) rs2124823714
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.141G>A (p.Ala47=)
NM_182760.4(SUMF1):c.149G>C (p.Cys50Ser)
NM_182760.4(SUMF1):c.14dup (p.Leu6fs)
NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter) rs761237429
NM_182760.4(SUMF1):c.150C>G (p.Cys50Trp) rs761237429
NM_182760.4(SUMF1):c.150C>T (p.Cys50=)
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter) rs2124823466
NM_182760.4(SUMF1):c.15A>G (p.Ala5=)
NM_182760.4(SUMF1):c.162G>T (p.Thr54=)
NM_182760.4(SUMF1):c.164_170del (p.Pro55fs)
NM_182760.4(SUMF1):c.166del (p.Gln56fs)
NM_182760.4(SUMF1):c.168G>A (p.Gln56=) rs1575266526
NM_182760.4(SUMF1):c.16C>G (p.Leu6Val) rs774160105
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.173C>G (p.Pro58Arg)
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.179C>A (p.Ala60Asp)
NM_182760.4(SUMF1):c.180C>A (p.Ala60=)
NM_182760.4(SUMF1):c.180C>G (p.Ala60=)
NM_182760.4(SUMF1):c.182A>G (p.His61Arg)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.191del (p.Ser64fs) rs2124823079
NM_182760.4(SUMF1):c.192G>T (p.Ser64=)
NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr)
NM_182760.4(SUMF1):c.196G>A (p.Ala66Thr)
NM_182760.4(SUMF1):c.197C>T (p.Ala66Val)
NM_182760.4(SUMF1):c.198C>T (p.Ala66=)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.205C>G (p.Arg69Gly) rs2124822777
NM_182760.4(SUMF1):c.206G>C (p.Arg69Pro)
NM_182760.4(SUMF1):c.20G>A (p.Gly7Glu)
NM_182760.4(SUMF1):c.210C>T (p.Tyr70=) rs2124822728
NM_182760.4(SUMF1):c.216G>A (p.Arg72=) rs2124822641
NM_182760.4(SUMF1):c.218A>G (p.Glu73Gly)
NM_182760.4(SUMF1):c.21G>A (p.Gly7=)
NM_182760.4(SUMF1):c.21G>T (p.Gly7=)
NM_182760.4(SUMF1):c.225C>T (p.Asn75=) rs1398783395
NM_182760.4(SUMF1):c.231G>A (p.Pro77=)
NM_182760.4(SUMF1):c.231G>C (p.Pro77=) rs948603427
NM_182760.4(SUMF1):c.234C>T (p.Gly78=)
NM_182760.4(SUMF1):c.236C>A (p.Pro79His)
NM_182760.4(SUMF1):c.237C>A (p.Pro79=)
NM_182760.4(SUMF1):c.237C>T (p.Pro79=)
NM_182760.4(SUMF1):c.241C>A (p.Pro81Thr) rs1324832603
NM_182760.4(SUMF1):c.241C>G (p.Pro81Ala)
NM_182760.4(SUMF1):c.243C>G (p.Pro81=) rs763293580
NM_182760.4(SUMF1):c.244G>A (p.Gly82Arg)
NM_182760.4(SUMF1):c.245G>A (p.Gly82Glu)
NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)
NM_182760.4(SUMF1):c.24G>A (p.Leu8=)
NM_182760.4(SUMF1):c.24G>T (p.Leu8=)
NM_182760.4(SUMF1):c.250_251del (p.Arg84fs)
NM_182760.4(SUMF1):c.251_253dup (p.Arg84dup) rs1362011601
NM_182760.4(SUMF1):c.252G>A (p.Arg84=)
NM_182760.4(SUMF1):c.255A>G (p.Gln85=)
NM_182760.4(SUMF1):c.257T>A (p.Leu86His)
NM_182760.4(SUMF1):c.258C>A (p.Leu86=) rs776950607
NM_182760.4(SUMF1):c.25G>C (p.Val9Leu)
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.261G>T (p.Ala87=) rs1332624112
NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.267A>G (p.Ser89=) rs975694131
NM_182760.4(SUMF1):c.268A>G (p.Lys90Glu)
NM_182760.4(SUMF1):c.270+12A>C
NM_182760.4(SUMF1):c.270+15C>T
NM_182760.4(SUMF1):c.270+16C>G rs112722092
NM_182760.4(SUMF1):c.270+16C>T
NM_182760.4(SUMF1):c.270+18C>G
NM_182760.4(SUMF1):c.270+18C>T
NM_182760.4(SUMF1):c.270+19C>T
NM_182760.4(SUMF1):c.270+20G>A
NM_182760.4(SUMF1):c.270+5_270+6dup
NM_182760.4(SUMF1):c.270+8A>G rs2124821916
NM_182760.4(SUMF1):c.271-12C>A
NM_182760.4(SUMF1):c.271-13C>T
NM_182760.4(SUMF1):c.271-14A>C
NM_182760.4(SUMF1):c.271-1G>C
NM_182760.4(SUMF1):c.271-1del
NM_182760.4(SUMF1):c.271-4G>A
NM_182760.4(SUMF1):c.271-7A>C
NM_182760.4(SUMF1):c.276C>A (p.Val92=) rs2125134203
NM_182760.4(SUMF1):c.278C>G (p.Pro93Arg) rs1311103815
NM_182760.4(SUMF1):c.279del (p.Ile94fs) rs2125134167
NM_182760.4(SUMF1):c.27G>A (p.Val9=) rs2124825304
NM_182760.4(SUMF1):c.282C>A (p.Ile94=) rs2125134153
NM_182760.4(SUMF1):c.284C>T (p.Pro95Leu)
NM_182760.4(SUMF1):c.287C>T (p.Ala96Val)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_182760.4(SUMF1):c.291A>T (p.Gly97=)
NM_182760.4(SUMF1):c.294A>T (p.Val98=) rs2125134091
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.309A>G (p.Thr103=)
NM_182760.4(SUMF1):c.316C>T (p.Pro106Ser)
NM_182760.4(SUMF1):c.323del (p.Ile108fs) rs1559309659
NM_182760.4(SUMF1):c.336G>A (p.Gly112=) rs2125133941
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs) rs1703025184
NM_182760.4(SUMF1):c.33dup (p.Arg12fs)
NM_182760.4(SUMF1):c.342A>C (p.Ala114=)
NM_182760.4(SUMF1):c.345T>G (p.Pro115=)
NM_182760.4(SUMF1):c.346G>A (p.Ala116Thr) rs1033881339
NM_182760.4(SUMF1):c.346G>T (p.Ala116Ser)
NM_182760.4(SUMF1):c.347C>T (p.Ala116Val) rs759486227
NM_182760.4(SUMF1):c.351G>A (p.Arg117=)
NM_182760.4(SUMF1):c.354A>G (p.Arg118=)
NM_182760.4(SUMF1):c.361A>G (p.Ile121Val)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr) rs1703023626
NM_182760.4(SUMF1):c.367G>A (p.Ala123Thr)
NM_182760.4(SUMF1):c.383C>A (p.Ala128Asp)
NM_182760.4(SUMF1):c.386A>G (p.Tyr129Cys)
NM_182760.4(SUMF1):c.387T>A (p.Tyr129Ter)
NM_182760.4(SUMF1):c.387T>C (p.Tyr129=)
NM_182760.4(SUMF1):c.388G>A (p.Glu130Lys)
NM_182760.4(SUMF1):c.38G>A (p.Cys13Tyr) rs368104860
NM_182760.4(SUMF1):c.396T>C (p.Ser132=)
NM_182760.4(SUMF1):c.39C>A (p.Cys13Ter)
NM_182760.4(SUMF1):c.400A>G (p.Thr134Ala) rs2125133637
NM_182760.4(SUMF1):c.402T>G (p.Thr134=)
NM_182760.4(SUMF1):c.405A>G (p.Glu135=) rs2125133620
NM_182760.4(SUMF1):c.40C>T (p.Pro14Ser)
NM_182760.4(SUMF1):c.412_413del (p.Lys138fs)
NM_182760.4(SUMF1):c.417T>C (p.Phe139=)
NM_182760.4(SUMF1):c.425C>T (p.Ser142Leu) rs2125133568
NM_182760.4(SUMF1):c.426A>C (p.Ser142=) rs2125133560
NM_182760.4(SUMF1):c.429T>G (p.Thr143=)
NM_182760.4(SUMF1):c.42T>G (p.Pro14=)
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter) rs1350782911
NM_182760.4(SUMF1):c.444+12G>C rs2125133421
NM_182760.4(SUMF1):c.444+13G>A
NM_182760.4(SUMF1):c.444+15G>A rs2125133416
NM_182760.4(SUMF1):c.444+20G>C
NM_182760.4(SUMF1):c.444+7G>C rs752986889
NM_182760.4(SUMF1):c.445-11C>T rs1702891124
NM_182760.4(SUMF1):c.445-12C>T
NM_182760.4(SUMF1):c.445-14T>C
NM_182760.4(SUMF1):c.445-18T>A
NM_182760.4(SUMF1):c.445-20A>G
NM_182760.4(SUMF1):c.445-4A>G
NM_182760.4(SUMF1):c.445-6T>A
NM_182760.4(SUMF1):c.445-7C>G
NM_182760.4(SUMF1):c.445-8C>G
NM_182760.4(SUMF1):c.450G>A (p.Glu150=) rs2125124363
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu) rs2125124343
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter) rs2125124343
NM_182760.4(SUMF1):c.452A>T (p.Lys151Met)
NM_182760.4(SUMF1):c.46C>T (p.Leu16=)
NM_182760.4(SUMF1):c.474T>C (p.Phe158=)
NM_182760.4(SUMF1):c.47T>C (p.Leu16Pro) rs2124824986
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.493C>A (p.Gln165Lys)
NM_182760.4(SUMF1):c.498G>A (p.Val166=)
NM_182760.4(SUMF1):c.49G>A (p.Gly17Ser)
NM_182760.4(SUMF1):c.501G>A (p.Lys167=)
NM_182760.4(SUMF1):c.503C>A (p.Thr168Asn)
NM_182760.4(SUMF1):c.50G>T (p.Gly17Val) rs752608083
NM_182760.4(SUMF1):c.510T>C (p.Ile170=) rs2125124001
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter) rs1702887095
NM_182760.4(SUMF1):c.519+10G>A
NM_182760.4(SUMF1):c.519+16A>G
NM_182760.4(SUMF1):c.519+19G>A
NM_182760.4(SUMF1):c.519+20G>A
NM_182760.4(SUMF1):c.519+20G>C
NM_182760.4(SUMF1):c.519+20G>T
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.51T>A (p.Gly17=)
NM_182760.4(SUMF1):c.51T>C (p.Gly17=)
NM_182760.4(SUMF1):c.520-11G>C
NM_182760.4(SUMF1):c.520-12G>A rs2125042164
NM_182760.4(SUMF1):c.520-15C>G
NM_182760.4(SUMF1):c.520-19T>C
NM_182760.4(SUMF1):c.520-4T>G
NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro) rs1359106679
NM_182760.4(SUMF1):c.52C>G (p.Leu18Val)
NM_182760.4(SUMF1):c.531T>A (p.Ala177=)
NM_182760.4(SUMF1):c.532_542del (p.Pro178fs)
NM_182760.4(SUMF1):c.534C>G (p.Pro178=) rs2125042077
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)
NM_182760.4(SUMF1):c.537G>A (p.Trp179Ter) rs2125042060
NM_182760.4(SUMF1):c.538T>A (p.Trp180Arg)
NM_182760.4(SUMF1):c.539G>A (p.Trp180Ter) rs1419925001
NM_182760.4(SUMF1):c.546T>C (p.Pro182=)
NM_182760.4(SUMF1):c.549G>A (p.Val183=)
NM_182760.4(SUMF1):c.54C>A (p.Leu18=) rs754825158
NM_182760.4(SUMF1):c.552A>G (p.Lys184=)
NM_182760.4(SUMF1):c.552del (p.Gly185fs)
NM_182760.4(SUMF1):c.556G>A (p.Ala186Thr)
NM_182760.4(SUMF1):c.55G>C (p.Val19Leu)
NM_182760.4(SUMF1):c.568C>T (p.His190Tyr)
NM_182760.4(SUMF1):c.570C>T (p.His190=) rs751215634
NM_182760.4(SUMF1):c.572C>T (p.Pro191Leu)
NM_182760.4(SUMF1):c.572del (p.Pro191fs)
NM_182760.4(SUMF1):c.573A>G (p.Pro191=)
NM_182760.4(SUMF1):c.582T>C (p.Pro194=)
NM_182760.4(SUMF1):c.584A>T (p.Asp195Val) rs1233415691
NM_182760.4(SUMF1):c.585C>T (p.Asp195=)
NM_182760.4(SUMF1):c.590C>T (p.Thr197Ile) rs2125041814
NM_182760.4(SUMF1):c.5C>T (p.Ala2Val)
NM_182760.4(SUMF1):c.602+16C>T
NM_182760.4(SUMF1):c.602+1G>T
NM_182760.4(SUMF1):c.602+7C>G rs2125041736
NM_182760.4(SUMF1):c.602+9G>A rs2125041720
NM_182760.4(SUMF1):c.603-10T>C
NM_182760.4(SUMF1):c.603-10T>G
NM_182760.4(SUMF1):c.603-11C>G rs2125035980
NM_182760.4(SUMF1):c.603-12G>A
NM_182760.4(SUMF1):c.603-15T>G
NM_182760.4(SUMF1):c.603-18A>G
NM_182760.4(SUMF1):c.603-1G>C rs2125035926
NM_182760.4(SUMF1):c.603-20C>A
NM_182760.4(SUMF1):c.603-20C>T
NM_182760.4(SUMF1):c.603-2A>T rs2125035931
NM_182760.4(SUMF1):c.603-2del rs749832328
NM_182760.4(SUMF1):c.603-4C>G
NM_182760.4(SUMF1):c.603-5C>G
NM_182760.4(SUMF1):c.603-5C>T rs772450368
NM_182760.4(SUMF1):c.603-9C>A
NM_182760.4(SUMF1):c.603-9C>T rs1701777644
NM_182760.4(SUMF1):c.605C>A (p.Pro202Gln) rs147775545
NM_182760.4(SUMF1):c.605C>T (p.Pro202Leu)
NM_182760.4(SUMF1):c.616_623del (p.Val206fs) rs773400437
NM_182760.4(SUMF1):c.621C>T (p.Leu207=) rs777887933
NM_182760.4(SUMF1):c.627G>A (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.627_657del (p.Ser210fs)
NM_182760.4(SUMF1):c.630C>T (p.Ser210=) rs1328437287
NM_182760.4(SUMF1):c.632G>A (p.Trp211Ter) rs1701775522
NM_182760.4(SUMF1):c.635dup (p.Asn212fs)
NM_182760.4(SUMF1):c.638A>T (p.Asp213Val) rs781215980
NM_182760.4(SUMF1):c.63GCT[6] (p.Leu25_Ser26insLeuLeu)
NM_182760.4(SUMF1):c.645T>C (p.Val215=)
NM_182760.4(SUMF1):c.648C>G (p.Ala216=) rs1470203634
NM_182760.4(SUMF1):c.64C>T (p.Leu22=)
NM_182760.4(SUMF1):c.650A>G (p.Tyr217Cys)
NM_182760.4(SUMF1):c.654C>T (p.Cys218=)
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) rs1575197564
NM_182760.4(SUMF1):c.668del (p.Lys223fs) rs2125035405
NM_182760.4(SUMF1):c.675G>T (p.Leu225=) rs774764639
NM_182760.4(SUMF1):c.675dup (p.Pro226fs)
NM_182760.4(SUMF1):c.678C>T (p.Pro226=) rs1357719246
NM_182760.4(SUMF1):c.67C>G (p.Leu23Val) rs2124824621
NM_182760.4(SUMF1):c.684A>G (p.Glu228=) rs1701772425
NM_182760.4(SUMF1):c.691dup (p.Trp231fs) rs748337915
NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter)
NM_182760.4(SUMF1):c.696A>G (p.Glu232=)
NM_182760.4(SUMF1):c.702C>T (p.Ser234=)
NM_182760.4(SUMF1):c.707G>A (p.Arg236Gln) rs768700845
NM_182760.4(SUMF1):c.707G>C (p.Arg236Pro)
NM_182760.4(SUMF1):c.718C>T (p.His240Tyr)
NM_182760.4(SUMF1):c.720T>G (p.His240Gln)
NM_182760.4(SUMF1):c.725+10G>A rs755488897
NM_182760.4(SUMF1):c.725+11G>A
NM_182760.4(SUMF1):c.725+11G>C rs751911122
NM_182760.4(SUMF1):c.725+11G>T
NM_182760.4(SUMF1):c.725+13T>C
NM_182760.4(SUMF1):c.725+15T>C
NM_182760.4(SUMF1):c.725+17A>C
NM_182760.4(SUMF1):c.725+17del
NM_182760.4(SUMF1):c.725+8G>C
NM_182760.4(SUMF1):c.726-14G>A
NM_182760.4(SUMF1):c.726-16G>A
NM_182760.4(SUMF1):c.726-1G>A rs1215549413
NM_182760.4(SUMF1):c.726-1G>C rs1215549413
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.726-4A>G
NM_182760.4(SUMF1):c.726-7C>G
NM_182760.4(SUMF1):c.726-7C>T rs2125032288
NM_182760.4(SUMF1):c.726-8T>C
NM_182760.4(SUMF1):c.72G>T (p.Leu24=)
NM_182760.4(SUMF1):c.732C>T (p.Phe244=)
NM_182760.4(SUMF1):c.750G>A (p.Leu250=) rs2125032155
NM_182760.4(SUMF1):c.75C>G (p.Leu25=) rs772504869
NM_182760.4(SUMF1):c.75C>T (p.Leu25=) rs772504869
NM_182760.4(SUMF1):c.762C>A (p.Gly254=) rs1701744028
NM_182760.4(SUMF1):c.762C>G (p.Gly254=)
NM_182760.4(SUMF1):c.762C>T (p.Gly254=)
NM_182760.4(SUMF1):c.767A>G (p.His256Arg)
NM_182760.4(SUMF1):c.770A>G (p.Tyr257Cys)
NM_182760.4(SUMF1):c.770A>T (p.Tyr257Phe) rs2125032082
NM_182760.4(SUMF1):c.774del (p.Asn259fs)
NM_182760.4(SUMF1):c.776A>G (p.Asn259Ser)
NM_182760.4(SUMF1):c.777C>T (p.Asn259=)
NM_182760.4(SUMF1):c.77C>G (p.Ser26Trp)
NM_182760.4(SUMF1):c.780T>C (p.Ile260=)
NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter)
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.786G>A (p.Gln262=) rs2125031946
NM_182760.4(SUMF1):c.789C>A (p.Gly263=)
NM_182760.4(SUMF1):c.789C>T (p.Gly263=)
NM_182760.4(SUMF1):c.78G>C (p.Ser26=) rs534380202
NM_182760.4(SUMF1):c.790G>T (p.Glu264Ter) rs754069091
NM_182760.4(SUMF1):c.795T>C (p.Phe265=)
NM_182760.4(SUMF1):c.798G>C (p.Pro266=)
NM_182760.4(SUMF1):c.79C>G (p.Leu27Val) rs771193676
NM_182760.4(SUMF1):c.79C>T (p.Leu27=)
NM_182760.4(SUMF1):c.801G>A (p.Val267=) rs775505041
NM_182760.4(SUMF1):c.801G>T (p.Val267=) rs775505041
NM_182760.4(SUMF1):c.807C>T (p.Asn269=) rs2125031773
NM_182760.4(SUMF1):c.814G>A (p.Glu272Lys) rs2125031724
NM_182760.4(SUMF1):c.816G>A (p.Glu272=)
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.826C>T (p.Gln276Ter) rs1478570923
NM_182760.4(SUMF1):c.828A>G (p.Gln276=)
NM_182760.4(SUMF1):c.82C>T (p.Leu28=)
NM_182760.4(SUMF1):c.832del (p.Thr278fs)
NM_182760.4(SUMF1):c.834T>C (p.Thr278=)
NM_182760.4(SUMF1):c.834T>G (p.Thr278=)
NM_182760.4(SUMF1):c.837G>T (p.Ala279=) rs150925824
NM_182760.4(SUMF1):c.840+11A>G
NM_182760.4(SUMF1):c.840+16T>C
NM_182760.4(SUMF1):c.840+18T>C
NM_182760.4(SUMF1):c.840+19G>A
NM_182760.4(SUMF1):c.840+1G>A
NM_182760.4(SUMF1):c.840+9T>G
NM_182760.4(SUMF1):c.840T>G (p.Pro280=) rs1435083804
NM_182760.4(SUMF1):c.841-10T>C
NM_182760.4(SUMF1):c.841-14G>C
NM_182760.4(SUMF1):c.841-16C>T rs376880649
NM_182760.4(SUMF1):c.841-2A>T rs1487159473
NM_182760.4(SUMF1):c.841-6T>C rs2125010627
NM_182760.4(SUMF1):c.841-8G>T
NM_182760.4(SUMF1):c.841-9del rs1255839196
NM_182760.4(SUMF1):c.841G>A (p.Val281Ile)
NM_182760.4(SUMF1):c.843T>C (p.Val281=) rs2125010592
NM_182760.4(SUMF1):c.845A>G (p.Asp282Gly) rs1701522507
NM_182760.4(SUMF1):c.849C>T (p.Ala283=) rs1701522407
NM_182760.4(SUMF1):c.852C>T (p.Phe284=)
NM_182760.4(SUMF1):c.853C>T (p.Pro285Ser)
NM_182760.4(SUMF1):c.857C>G (p.Pro286Arg)
NM_182760.4(SUMF1):c.860A>G (p.Asn287Ser)
NM_182760.4(SUMF1):c.862G>T (p.Gly288Cys)
NM_182760.4(SUMF1):c.866A>G (p.Tyr289Cys) rs772860745
NM_182760.4(SUMF1):c.870C>G (p.Gly290=)
NM_182760.4(SUMF1):c.876C>G (p.Tyr292Ter) rs369648085
NM_182760.4(SUMF1):c.878A>G (p.Asn293Ser)
NM_182760.4(SUMF1):c.879C>T (p.Asn293=) rs2125010350
NM_182760.4(SUMF1):c.880A>G (p.Ile294Val)
NM_182760.4(SUMF1):c.882A>T (p.Ile294=)
NM_182760.4(SUMF1):c.883G>C (p.Val295Leu)
NM_182760.4(SUMF1):c.886G>C (p.Gly296Arg) rs2125010332
NM_182760.4(SUMF1):c.894A>G (p.Ala298=)
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter) rs1559281733
NM_182760.4(SUMF1):c.8C>T (p.Ala3Val) rs996881272
NM_182760.4(SUMF1):c.900A>G (p.Glu300=)
NM_182760.4(SUMF1):c.901T>C (p.Trp301Arg)
NM_182760.4(SUMF1):c.908C>G (p.Ser303Ter)
NM_182760.4(SUMF1):c.910G>A (p.Asp304Asn)
NM_182760.4(SUMF1):c.922G>A (p.Val308Ile)
NM_182760.4(SUMF1):c.926A>C (p.His309Pro) rs1165338621
NM_182760.4(SUMF1):c.944C>G (p.Thr315Arg) rs146164667
NM_182760.4(SUMF1):c.944C>T (p.Thr315Met)
NM_182760.4(SUMF1):c.945G>A (p.Thr315=)
NM_182760.4(SUMF1):c.945G>T (p.Thr315=) rs1432739031
NM_182760.4(SUMF1):c.948T>C (p.Leu316=)
NM_182760.4(SUMF1):c.951C>G (p.Asn317Lys) rs375843895
NM_182760.4(SUMF1):c.954+18A>G
NM_182760.4(SUMF1):c.954+18A>T
NM_182760.4(SUMF1):c.954+19G>A
NM_182760.4(SUMF1):c.954+1G>A rs1701516867
NM_182760.4(SUMF1):c.954+1G>T rs1701516867
NM_182760.4(SUMF1):c.954+5G>T
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.955-10T>C
NM_182760.4(SUMF1):c.955-10del
NM_182760.4(SUMF1):c.955-13T>C
NM_182760.4(SUMF1):c.955-15T>C
NM_182760.4(SUMF1):c.955-17T>C
NM_182760.4(SUMF1):c.955-19C>G
NM_182760.4(SUMF1):c.955-20C>A
NM_182760.4(SUMF1):c.955-2A>G
NM_182760.4(SUMF1):c.955-3_970del
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.955-7T>A rs2124845630
NM_182760.4(SUMF1):c.955-7T>C
NM_182760.4(SUMF1):c.955-8A>G
NM_182760.4(SUMF1):c.955-8A>T
NM_182760.4(SUMF1):c.955A>G (p.Lys319Glu) rs2124845551
NM_182760.4(SUMF1):c.959del (p.Gly320fs)
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940
NM_182760.4(SUMF1):c.960T>C (p.Gly320=)
NM_182760.4(SUMF1):c.966T>C (p.Pro322=) rs2124845395
NM_182760.4(SUMF1):c.966T>G (p.Pro322=)
NM_182760.4(SUMF1):c.975A>G (p.Lys325=)
NM_182760.4(SUMF1):c.978C>T (p.Asp326=) rs1001149264
NM_182760.4(SUMF1):c.998C>G (p.Ser333Cys)
NM_182760.4(SUMF1):c.999C>G (p.Ser333=) rs1351393491
NM_182760.4(SUMF1):c.9G>A (p.Ala3=) rs755989487
NM_182760.4(SUMF1):c.9G>C (p.Ala3=)
NM_182760.4(SUMF1):c.9G>T (p.Ala3=)

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