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
|
|