ClinVar Miner

List of variants in gene MLC1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.423+108A>G rs2235349 0.21264
NM_015166.4(MLC1):c.1059+16G>A rs5771338 0.17531
NM_015166.4(MLC1):c.525+64G>A rs2076137 0.14127
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_015166.4(MLC1):c.772-14C>T rs370441362 0.00112
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.177+15A>G rs148099137 0.00092
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_015166.4(MLC1):c.601G>A (p.Val201Ile) rs147572634 0.00063
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp) rs148532625 0.00034
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.525+15T>C rs768632337 0.00021
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00016
NM_015166.4(MLC1):c.354G>A (p.Thr118=) rs201819346 0.00016
NM_015166.4(MLC1):c.477G>A (p.Thr159=) rs374829012 0.00013
NM_015166.4(MLC1):c.64C>T (p.Arg22Trp) rs202135704 0.00013
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.804G>A (p.Thr268=) rs371052740 0.00011
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015166.4(MLC1):c.423+19C>T rs375594671 0.00009
NM_015166.4(MLC1):c.93C>T (p.Asp31=) rs199625892 0.00009
NM_015166.4(MLC1):c.120G>A (p.Ser40=) rs557978926 0.00007
NM_015166.4(MLC1):c.903C>T (p.Tyr301=) rs764754702 0.00007
NM_015166.4(MLC1):c.937C>T (p.Leu313=) rs557836255 0.00007
NM_015166.4(MLC1):c.1060-9C>T rs569220214 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.525+18C>G rs746998223 0.00006
NM_015166.4(MLC1):c.633C>T (p.Leu211=) rs150349924 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015166.4(MLC1):c.102G>A (p.Pro34=) rs778840124 0.00004
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015166.4(MLC1):c.153G>A (p.Thr51=) rs758885759 0.00004
NM_015166.4(MLC1):c.600C>T (p.Val200=) rs779313834 0.00004
NM_015166.4(MLC1):c.648C>A (p.Ala216=) rs765062227 0.00004
NM_015166.4(MLC1):c.75C>T (p.Pro25=) rs761428099 0.00004
NM_015166.4(MLC1):c.772-13G>A rs774940679 0.00004
NM_015166.4(MLC1):c.858C>A (p.Ile286=) rs140824687 0.00004
NM_015166.4(MLC1):c.1026C>G (p.Thr342=) rs201417187 0.00003
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) rs746212879 0.00003
NM_015166.4(MLC1):c.1038G>A (p.Pro346=) rs756949575 0.00003
NM_015166.4(MLC1):c.105C>T (p.Ser35=) rs573095096 0.00003
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00003
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015166.4(MLC1):c.595T>C (p.Ser199Pro) rs140676811 0.00003
NM_015166.4(MLC1):c.696C>T (p.Phe232=) rs747751986 0.00003
NM_015166.4(MLC1):c.858C>T (p.Ile286=) rs140824687 0.00003
NM_015166.4(MLC1):c.1110C>T (p.Ala370=) rs760778847 0.00002
NM_015166.4(MLC1):c.486C>T (p.Ile162=) rs754667390 0.00002
NM_015166.4(MLC1):c.504G>A (p.Glu168=) rs768082637 0.00002
NM_015166.4(MLC1):c.537T>G (p.Ser179=) rs141964804 0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_015166.4(MLC1):c.816G>A (p.Leu272=) rs757434710 0.00002
NM_015166.4(MLC1):c.966C>T (p.Thr322=) rs376112136 0.00002
NM_015166.4(MLC1):c.1071C>T (p.Ser357=) rs1270153559 0.00001
NM_015166.4(MLC1):c.1075C>T (p.Leu359=) rs747871225 0.00001
NM_015166.4(MLC1):c.1086C>T (p.Phe362=) rs751390945 0.00001
NM_015166.4(MLC1):c.126A>G (p.Arg42=) rs1005823986 0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.24G>A (p.Glu8=) rs752169981 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.297C>T (p.Thr99=) rs143871356 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 0.00001
NM_015166.4(MLC1):c.33C>T (p.Ala11=) rs746885445 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.372G>C (p.Thr124=) rs779686635 0.00001
NM_015166.4(MLC1):c.390A>C (p.Gly130=) rs1404863615 0.00001
NM_015166.4(MLC1):c.414A>G (p.Ser138=) rs996914800 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_015166.4(MLC1):c.423+8C>T rs2062076296 0.00001
NM_015166.4(MLC1):c.471G>A (p.Ala157=) rs770576284 0.00001
NM_015166.4(MLC1):c.476C>T (p.Thr159Met) rs777239986 0.00001
NM_015166.4(MLC1):c.489T>C (p.Ala163=) rs2062012946 0.00001
NM_015166.4(MLC1):c.498C>T (p.Ser166=) rs764242064 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.526-5C>T rs374146249 0.00001
NM_015166.4(MLC1):c.526-7T>C rs1240461123 0.00001
NM_015166.4(MLC1):c.543C>T (p.Ser181=) rs559021124 0.00001
NM_015166.4(MLC1):c.558C>T (p.Asp186=) rs750792708 0.00001
NM_015166.4(MLC1):c.603C>T (p.Val201=) rs1264694715 0.00001
NM_015166.4(MLC1):c.639G>A (p.Gly213=) rs1329631256 0.00001
NM_015166.4(MLC1):c.675C>T (p.Gly225=) rs2061926291 0.00001
NM_015166.4(MLC1):c.693G>A (p.Thr231=) rs756589485 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.750A>G (p.Ala250=) rs773786209 0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs) rs757250956 0.00001
NM_015166.4(MLC1):c.810G>A (p.Pro270=) rs765368024 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015166.4(MLC1):c.895-8G>A rs574334440 0.00001
NM_015166.4(MLC1):c.948C>T (p.Ala316=) rs372499972 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NC_000022.10:g.(?_50500002)_(50523373_?)del
NC_000022.10:g.(?_50500012)_(50515951_?)del
NC_000022.10:g.(?_50512625)_(50523373_?)dup
NC_000022.10:g.(?_50512635)_(50512771_?)del
NC_000022.10:g.(?_50515250)_(50515951_?)del
NC_000022.10:g.(?_50518954)_(50523273_?)del
NC_000022.10:g.(?_50521503)_(50521612_?)del
NC_000022.10:g.(?_50523145)_(50523373_?)del
NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)
NM_015166.4(MLC1):c.1026C>T (p.Thr342=)
NM_015166.4(MLC1):c.1044G>A (p.Glu348=)
NM_015166.4(MLC1):c.1046G>A (p.Arg349His)
NM_015166.4(MLC1):c.1047C>T (p.Arg349=)
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015166.4(MLC1):c.1052_1053insGGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
NM_015166.4(MLC1):c.1053T>G (p.Ala351=)
NM_015166.4(MLC1):c.1059+10C>T
NM_015166.4(MLC1):c.1059+20A>C
NM_015166.4(MLC1):c.1059+20A>T rs746438468
NM_015166.4(MLC1):c.1059+8G>A
NM_015166.4(MLC1):c.1059+9C>T
NM_015166.4(MLC1):c.1060-17T>A
NM_015166.4(MLC1):c.1060-6T>C rs2146739158
NM_015166.4(MLC1):c.1060-8G>A
NM_015166.4(MLC1):c.1060-9C>G
NM_015166.4(MLC1):c.1062G>A (p.Val354=) rs2146739010
NM_015166.4(MLC1):c.106G>A (p.Asp36Asn)
NM_015166.4(MLC1):c.1080G>A (p.Lys360=)
NM_015166.4(MLC1):c.1089C>T (p.Asp363=)
NM_015166.4(MLC1):c.1098A>G (p.Lys366=)
NM_015166.4(MLC1):c.1112T>G (p.Val371Gly)
NM_015166.4(MLC1):c.1113C>G (p.Val371=)
NM_015166.4(MLC1):c.1113C>T (p.Val371=) rs1269494985
NM_015166.4(MLC1):c.1117G>A (p.Val373Met)
NM_015166.4(MLC1):c.1119G>T (p.Val373=)
NM_015166.4(MLC1):c.1128C>T (p.Ala376=)
NM_015166.4(MLC1):c.119C>A (p.Ser40Ter) rs2033708755
NM_015166.4(MLC1):c.120G>C (p.Ser40=)
NM_015166.4(MLC1):c.120G>T (p.Ser40=)
NM_015166.4(MLC1):c.127C>T (p.Leu43=)
NM_015166.4(MLC1):c.129G>T (p.Leu43=)
NM_015166.4(MLC1):c.135C>A (p.Pro45=) rs76283012
NM_015166.4(MLC1):c.135C>T (p.Pro45=) rs76283012
NM_015166.4(MLC1):c.135del (p.Cys46fs)
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.141C>T (p.Phe47=)
NM_015166.4(MLC1):c.147C>T (p.His49=) rs1354352152
NM_015166.4(MLC1):c.152C>T (p.Thr51Met) rs1291047256
NM_015166.4(MLC1):c.153G>C (p.Thr51=) rs758885759
NM_015166.4(MLC1):c.159C>T (p.Val53=)
NM_015166.4(MLC1):c.162C>T (p.Phe54=)
NM_015166.4(MLC1):c.163del (p.Ser55fs)
NM_015166.4(MLC1):c.165T>C (p.Ser55=)
NM_015166.4(MLC1):c.167T>C (p.Val56Ala)
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.177+11C>T
NM_015166.4(MLC1):c.177+8G>C
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015166.4(MLC1):c.268-12G>C rs1397453901
NM_015166.4(MLC1):c.268-13G>T
NM_015166.4(MLC1):c.268-14C>T
NM_015166.4(MLC1):c.268-18del
NM_015166.4(MLC1):c.268-19G>C
NM_015166.4(MLC1):c.270C>T (p.Cys90=) rs2062093009
NM_015166.4(MLC1):c.275C>T (p.Pro92Leu) rs2146908500
NM_015166.4(MLC1):c.276C>G (p.Pro92=)
NM_015166.4(MLC1):c.276C>T (p.Pro92=)
NM_015166.4(MLC1):c.279G>T (p.Ser93=) rs11568172
NM_015166.4(MLC1):c.291C>T (p.Ser97=) rs2146908372
NM_015166.4(MLC1):c.297C>A (p.Thr99=)
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.300C>A (p.Val100=)
NM_015166.4(MLC1):c.303C>T (p.Ser101=)
NM_015166.4(MLC1):c.30G>C (p.Leu10=)
NM_015166.4(MLC1):c.312C>T (p.Asn104=) rs763564142
NM_015166.4(MLC1):c.321+15C>G
NM_015166.4(MLC1):c.321+16A>C
NM_015166.4(MLC1):c.321+16A>G
NM_015166.4(MLC1):c.321+18del
NM_015166.4(MLC1):c.321+2T>C
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-11T>G
NM_015166.4(MLC1):c.322-12C>T
NM_015166.4(MLC1):c.322-13C>A
NM_015166.4(MLC1):c.322-14G>C
NM_015166.4(MLC1):c.322-19C>T
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.322-4T>C rs753825336
NM_015166.4(MLC1):c.322-4del
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.335del (p.Gln112fs) rs2146905135
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs) rs2062079566
NM_015166.4(MLC1):c.342G>A (p.Leu114=)
NM_015166.4(MLC1):c.343T>C (p.Phe115Leu) rs2146905010
NM_015166.4(MLC1):c.345dup (p.Val116fs)
NM_015166.4(MLC1):c.359C>T (p.Ala120Val)
NM_015166.4(MLC1):c.367A>G (p.Thr123Ala)
NM_015166.4(MLC1):c.36T>C (p.Tyr12=)
NM_015166.4(MLC1):c.372G>A (p.Thr124=) rs779686635
NM_015166.4(MLC1):c.396A>G (p.Lys132=) rs778038540
NM_015166.4(MLC1):c.396A>T (p.Lys132Asn)
NM_015166.4(MLC1):c.402C>T (p.Val134=) rs1569250003
NM_015166.4(MLC1):c.40C>G (p.Arg14Gly)
NM_015166.4(MLC1):c.40C>T (p.Arg14Trp) rs370132302
NM_015166.4(MLC1):c.411A>G (p.Pro137=)
NM_015166.4(MLC1):c.417A>C (p.Ala139=) rs2062076723
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln) rs1362564136
NM_015166.4(MLC1):c.423+10C>T rs2062076157
NM_015166.4(MLC1):c.423+12C>T
NM_015166.4(MLC1):c.423+15G>A
NM_015166.4(MLC1):c.423+18T>G
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.423+20G>A
NM_015166.4(MLC1):c.423+2T>G
NM_015166.4(MLC1):c.424-11C>T
NM_015166.4(MLC1):c.424-14G>A
NM_015166.4(MLC1):c.424-14G>T
NM_015166.4(MLC1):c.424-16G>A
NM_015166.4(MLC1):c.424-18G>A
NM_015166.4(MLC1):c.424-18G>C
NM_015166.4(MLC1):c.424-19C>A
NM_015166.4(MLC1):c.424-19C>G rs372675474
NM_015166.4(MLC1):c.424-19C>T
NM_015166.4(MLC1):c.424-4G>A
NM_015166.4(MLC1):c.424-9C>T
NM_015166.4(MLC1):c.441C>A (p.Ile147=) rs151085560
NM_015166.4(MLC1):c.445C>T (p.Leu149=)
NM_015166.4(MLC1):c.453G>C (p.Leu151=) rs1279567153
NM_015166.4(MLC1):c.453G>T (p.Leu151=)
NM_015166.4(MLC1):c.465C>T (p.Leu155=)
NM_015166.4(MLC1):c.470C>T (p.Ala157Val)
NM_015166.4(MLC1):c.477G>T (p.Thr159=) rs374829012
NM_015166.4(MLC1):c.481_524del (p.Ile161fs)
NM_015166.4(MLC1):c.492A>G (p.Ala164=) rs1602039627
NM_015166.4(MLC1):c.502G>A (p.Glu168Lys)
NM_015166.4(MLC1):c.504GGA[1] (p.Glu169del) rs2062012038
NM_015166.4(MLC1):c.50C>T (p.Thr17Met)
NM_015166.4(MLC1):c.51G>A (p.Thr17=) rs2062242234
NM_015166.4(MLC1):c.51G>T (p.Thr17=)
NM_015166.4(MLC1):c.525+10G>T rs2146884823
NM_015166.4(MLC1):c.525+11C>A
NM_015166.4(MLC1):c.525+11C>T
NM_015166.4(MLC1):c.525+13T>A
NM_015166.4(MLC1):c.525+18C>T
NM_015166.4(MLC1):c.525+9A>C
NM_015166.4(MLC1):c.526-12G>A
NM_015166.4(MLC1):c.526-12G>C
NM_015166.4(MLC1):c.526-14C>A
NM_015166.4(MLC1):c.526-18A>G
NM_015166.4(MLC1):c.526-19C>T
NM_015166.4(MLC1):c.526-4G>A rs756356978
NM_015166.4(MLC1):c.526-4G>T rs756356978
NM_015166.4(MLC1):c.528C>G (p.Gly176=)
NM_015166.4(MLC1):c.536C>G (p.Ser179Cys)
NM_015166.4(MLC1):c.549C>T (p.Asn183=) rs2146880410
NM_015166.4(MLC1):c.561A>G (p.Glu187=) rs148532625
NM_015166.4(MLC1):c.563T>C (p.Val188Ala)
NM_015166.4(MLC1):c.564G>A (p.Val188=)
NM_015166.4(MLC1):c.577C>A (p.Arg193=)
NM_015166.4(MLC1):c.577C>T (p.Arg193Trp)
NM_015166.4(MLC1):c.578G>A (p.Arg193Gln)
NM_015166.4(MLC1):c.585G>A (p.Leu195=) rs936944448
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.597+11_597+13del
NM_015166.4(MLC1):c.597+15C>T
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.597+9A>C
NM_015166.4(MLC1):c.597+9A>T
NM_015166.4(MLC1):c.597_597+1del
NM_015166.4(MLC1):c.598-10T>C
NM_015166.4(MLC1):c.598-13C>T
NM_015166.4(MLC1):c.598-14C>G
NM_015166.4(MLC1):c.598-18C>G
NM_015166.4(MLC1):c.598-19G>A
NM_015166.4(MLC1):c.598-6del
NM_015166.4(MLC1):c.598-7C>G rs746348743
NM_015166.4(MLC1):c.598-7C>T
NM_015166.4(MLC1):c.598-8C>G
NM_015166.4(MLC1):c.598-8C>T rs2061929583
NM_015166.4(MLC1):c.598-9C>A
NM_015166.4(MLC1):c.600_601delinsTA (p.Val201Ile)
NM_015166.4(MLC1):c.606G>A (p.Glu202=)
NM_015166.4(MLC1):c.609A>C (p.Val203=)
NM_015166.4(MLC1):c.609A>T (p.Val203=)
NM_015166.4(MLC1):c.612C>T (p.Ile204=)
NM_015166.4(MLC1):c.613G>A (p.Ala205Thr)
NM_015166.4(MLC1):c.621C>T (p.Ile207=) rs2061928660
NM_015166.4(MLC1):c.633C>G (p.Leu211=)
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.635G>A (p.Gly212Glu)
NM_015166.4(MLC1):c.636G>C (p.Gly212=) rs772974052
NM_015166.4(MLC1):c.639G>C (p.Gly213=)
NM_015166.4(MLC1):c.639G>T (p.Gly213=)
NM_015166.4(MLC1):c.645T>A (p.Ile215=)
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.654C>T (p.Asn218=) rs41302601
NM_015166.4(MLC1):c.667G>A (p.Val223Ile)
NM_015166.4(MLC1):c.66G>T (p.Arg22=)
NM_015166.4(MLC1):c.675C>A (p.Gly225=)
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.681C>T (p.His227=)
NM_015166.4(MLC1):c.686C>T (p.Ser229Leu)
NM_015166.4(MLC1):c.692C>G (p.Thr231Arg)
NM_015166.4(MLC1):c.693G>C (p.Thr231=)
NM_015166.4(MLC1):c.6C>G (p.Thr2=)
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) rs781004589
NM_015166.4(MLC1):c.705_712delCCTAGTGG (p.Val237fs) rs2146858081
NM_015166.4(MLC1):c.708A>C (p.Leu236=) rs2146858181
NM_015166.4(MLC1):c.714+10C>T rs2146857936
NM_015166.4(MLC1):c.714+11C>A
NM_015166.4(MLC1):c.714+13T>C
NM_015166.4(MLC1):c.714+14C>T
NM_015166.4(MLC1):c.714+20C>T
NM_015166.4(MLC1):c.714+2T>C
NM_015166.4(MLC1):c.714+9C>A
NM_015166.4(MLC1):c.714+9C>T
NM_015166.4(MLC1):c.715-18C>T
NM_015166.4(MLC1):c.715-19C>G
NM_015166.4(MLC1):c.715-19C>T
NM_015166.4(MLC1):c.715-6T>A
NM_015166.4(MLC1):c.715-7C>T rs900685451
NM_015166.4(MLC1):c.715-8T>A
NM_015166.4(MLC1):c.730A>G (p.Ile244Val)
NM_015166.4(MLC1):c.734C>G (p.Ala245Gly)
NM_015166.4(MLC1):c.735del (p.Ser246fs)
NM_015166.4(MLC1):c.736del (p.Ser246fs) rs2146830385
NM_015166.4(MLC1):c.741T>C (p.His247=) rs1401280860
NM_015166.4(MLC1):c.753G>A (p.Glu251=) rs866028478
NM_015166.4(MLC1):c.765G>A (p.Lys255=) rs2146830044
NM_015166.4(MLC1):c.768T>C (p.Cys256=)
NM_015166.4(MLC1):c.769C>T (p.Leu257=)
NM_015166.4(MLC1):c.771+10C>A
NM_015166.4(MLC1):c.771+11C>T
NM_015166.4(MLC1):c.771+12C>T
NM_015166.4(MLC1):c.771+13C>G
NM_015166.4(MLC1):c.771+5G>A
NM_015166.4(MLC1):c.771+7G>A
NM_015166.4(MLC1):c.772-14C>A
NM_015166.4(MLC1):c.772-15G>A rs374916974
NM_015166.4(MLC1):c.772-15G>C
NM_015166.4(MLC1):c.772-15G>T
NM_015166.4(MLC1):c.772-16C>T
NM_015166.4(MLC1):c.772-2del
NM_015166.4(MLC1):c.772-5T>C
NM_015166.4(MLC1):c.772-5dup
NM_015166.4(MLC1):c.772-7T>C
NM_015166.4(MLC1):c.778G>A (p.Val260Ile)
NM_015166.4(MLC1):c.780C>T (p.Val260=)
NM_015166.4(MLC1):c.78C>T (p.Ala26=)
NM_015166.4(MLC1):c.795C>T (p.Ser265=)
NM_015166.4(MLC1):c.799C>G (p.Leu267Val)
NM_015166.4(MLC1):c.803C>T (p.Thr268Met)
NM_015166.4(MLC1):c.810G>T (p.Pro270=) rs765368024
NM_015166.4(MLC1):c.814C>A (p.Leu272Met) rs2146811944
NM_015166.4(MLC1):c.816G>T (p.Leu272=) rs757434710
NM_015166.4(MLC1):c.822del (p.Ala275fs)
NM_015166.4(MLC1):c.823G>A (p.Ala275Thr) rs2061767463
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.825C>T (p.Ala275=) rs1011467963
NM_015166.4(MLC1):c.837G>T (p.Leu279=) rs767918230
NM_015166.4(MLC1):c.838T>C (p.Ser280Pro)
NM_015166.4(MLC1):c.847A>G (p.Ile283Val)
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.84T>C (p.Tyr28=) rs2146944793
NM_015166.4(MLC1):c.850_851del (p.Met284fs)
NM_015166.4(MLC1):c.864G>A (p.Glu288=) rs2146811444
NM_015166.4(MLC1):c.876T>C (p.Asp292=) rs2146811357
NM_015166.4(MLC1):c.879C>T (p.Tyr293=) rs1569244149
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.885A>G (p.Pro295=)
NM_015166.4(MLC1):c.890T>G (p.Ile297Arg) rs2146811164
NM_015166.4(MLC1):c.894+16T>G
NM_015166.4(MLC1):c.894+8_894+11del rs2061765126
NM_015166.4(MLC1):c.895-10C>T
NM_015166.4(MLC1):c.895-7C>T
NM_015166.4(MLC1):c.895-8G>C
NM_015166.4(MLC1):c.897A>G (p.Pro299=)
NM_015166.4(MLC1):c.900C>T (p.Ser300=) rs2146773198
NM_015166.4(MLC1):c.902A>G (p.Tyr301Cys)
NM_015166.4(MLC1):c.906T>C (p.Asp302=)
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[6] (p.Leu310del)
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015166.4(MLC1):c.912_935del (p.Leu307_Leu314del)
NM_015166.4(MLC1):c.913C>T (p.Leu305=)
NM_015166.4(MLC1):c.915G>C (p.Leu305=) rs2146772999
NM_015166.4(MLC1):c.917T>G (p.Leu306Arg)
NM_015166.4(MLC1):c.927G>A (p.Leu309=) rs1310558235
NM_015166.4(MLC1):c.928C>T (p.Leu310=) rs2146772812
NM_015166.4(MLC1):c.940C>T (p.Leu314=)
NM_015166.4(MLC1):c.948C>G (p.Ala316=) rs372499972
NM_015166.4(MLC1):c.949G>A (p.Gly317Ser)
NM_015166.4(MLC1):c.94G>A (p.Ala32Thr)
NM_015166.4(MLC1):c.950G>A (p.Gly317Asp) rs1397825083
NM_015166.4(MLC1):c.951C>T (p.Gly317=) rs748233980
NM_015166.4(MLC1):c.957C>T (p.Asn319=)
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015166.4(MLC1):c.959C>T (p.Thr320Met)
NM_015166.4(MLC1):c.960G>C (p.Thr320=)
NM_015166.4(MLC1):c.966C>G (p.Thr322=)
NM_015166.4(MLC1):c.969C>T (p.Ala323=) rs2146772052
NM_015166.4(MLC1):c.96G>A (p.Ala32=) rs1400477433
NM_015166.4(MLC1):c.999A>C (p.Ala333=)
NM_015166.4(MLC1):c.999A>G (p.Ala333=) rs2146771747
NM_015166.4(MLC1):c.99G>A (p.Lys33=) rs2062240247

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