NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)
|
rs1057517090
|
0.00003
|
NM_015166.4(MLC1):c.895-2A>G
|
rs1183818307
|
0.00003
|
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.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)
|
rs281875316
|
0.00001
|
NM_015166.4(MLC1):c.423+1G>A
|
rs752428321
|
0.00001
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
NM_015166.4(MLC1):c.714+1G>A
|
rs761620701
|
0.00001
|
NM_015166.4(MLC1):c.754dup (p.Cys252fs)
|
rs757250956
|
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.(?_50518954)_(50523273_?)del
|
|
|
NC_000022.10:g.(?_50523145)_(50523373_?)del
|
|
|
NM_015166.4(MLC1):c.111_112dup (p.Gln38fs)
|
rs2062239718
|
|
NM_015166.4(MLC1):c.119C>A (p.Ser40Ter)
|
rs2033708755
|
|
NM_015166.4(MLC1):c.135del (p.Cys46fs)
|
|
|
NM_015166.4(MLC1):c.135dup (p.Cys46fs)
|
rs80358241
|
|
NM_015166.4(MLC1):c.163del (p.Ser55fs)
|
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015166.4(MLC1):c.299_423+108del
|
rs1602049346
|
|
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.345dup (p.Val116fs)
|
|
|
NM_015166.4(MLC1):c.359C>T (p.Ala120Val)
|
|
|
NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)
|
rs769089143
|
|
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser)
|
rs121908344
|
|
NM_015166.4(MLC1):c.423+1G>T
|
rs752428321
|
|
NM_015166.4(MLC1):c.423+2T>G
|
|
|
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys)
|
rs121908343
|
|
NM_015166.4(MLC1):c.448del (p.Leu150fs)
|
rs1555967227
|
|
NM_015166.4(MLC1):c.481_524del (p.Ile161fs)
|
|
|
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)
|
rs267607236
|
|
NM_015166.4(MLC1):c.597+1G>A
|
|
|
NM_015166.4(MLC1):c.617G>T (p.Gly206Val)
|
rs1114167286
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.639dup (p.Ile214fs)
|
rs1449444164
|
|
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)
|
rs1057517228
|
|
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.735del (p.Ser246fs)
|
|
|
NM_015166.4(MLC1):c.736del (p.Ser246fs)
|
rs2146830385
|
|
NM_015166.4(MLC1):c.772-1G>C
|
|
|
NM_015166.4(MLC1):c.822del (p.Ala275fs)
|
|
|
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)
|
rs764669598
|
|
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)
|
rs121908341
|
|
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
|
|
|
NM_015166.4(MLC1):c.850_851del (p.Met284fs)
|
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
|
NM_015166.4(MLC1):c.908_914del (p.Val303fs)
|
rs2146773018
|
|
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)
|
rs2146772952
|
|
NM_015166.4(MLC1):c.912_935del (p.Leu307_Leu314del)
|
|
|