NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_015166.4(MLC1):c.136del (p.Cys46fs)
|
rs1057516766
|
0.00001
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
NM_015166.4(MLC1):c.321+1G>A
|
rs765879182
|
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.(?_50512635)_(50512771_?)del
|
|
|
NC_000022.10:g.(?_50521503)_(50521612_?)del
|
|
|
NM_015166.4(MLC1):c.1059+1G>A
|
rs1555963392
|
|
NM_015166.4(MLC1):c.1059+1G>T
|
|
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NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)
|
rs1555962581
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015166.4(MLC1):c.177+1del
|
|
|
NM_015166.4(MLC1):c.268-2A>G
|
|
|
NM_015166.4(MLC1):c.271_272del (p.Ile91fs)
|
rs1057516336
|
|
NM_015166.4(MLC1):c.275C>T (p.Pro92Leu)
|
rs2146908500
|
|
NM_015166.4(MLC1):c.299_423+108del
|
rs1602049346
|
|
NM_015166.4(MLC1):c.321+1G>T
|
rs765879182
|
|
NM_015166.4(MLC1):c.321+2T>C
|
|
|
NM_015166.4(MLC1):c.321+2T>G
|
|
|
NM_015166.4(MLC1):c.322-1G>T
|
|
|
NM_015166.4(MLC1):c.324del (p.Asn110fs)
|
rs786204747
|
|
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
|
|
|
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)
|
rs1458824689
|
|
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
|
|
|
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)
|
rs2062078281
|
|
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)
|
|
|
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)
|
rs2062077684
|
|
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)
|
|
|
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)
|
rs2062076867
|
|
NM_015166.4(MLC1):c.423+1G>T
|
rs752428321
|
|
NM_015166.4(MLC1):c.423+2dup
|
rs1555967668
|
|
NM_015166.4(MLC1):c.42del (p.Met15fs)
|
rs1555968785
|
|
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)
|
rs1219458189
|
|
NM_015166.4(MLC1):c.489dup (p.Ala164fs)
|
|
|
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)
|
rs766461175
|
|
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
|
|
|
NM_015166.4(MLC1):c.526-2A>G
|
|
|
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)
|
rs761502278
|
|
NM_015166.4(MLC1):c.592del (p.Tyr198fs)
|
|
|
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)
|
rs267607236
|
|
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)
|
|
|
NM_015166.4(MLC1):c.597+1G>A
|
|
|
NM_015166.4(MLC1):c.597+2T>A
|
rs1425964299
|
|
NM_015166.4(MLC1):c.597_597+1del
|
|
|
NM_015166.4(MLC1):c.624_625del (p.Ala209fs)
|
rs1057517375
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.635G>A (p.Gly212Glu)
|
|
|
NM_015166.4(MLC1):c.639dup (p.Ile214fs)
|
rs1449444164
|
|
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)
|
rs1057517228
|
|
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)
|
|
|
NM_015166.4(MLC1):c.714+2T>C
|
|
|
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
|
|
|
NM_015166.4(MLC1):c.759del (p.Ser254fs)
|
|
|
NM_015166.4(MLC1):c.772-2del
|
|
|
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
|
|
|
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)
|
rs777790290
|
|
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
|
|
|
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.833A>G (p.Tyr278Cys)
|
rs1569244190
|
|
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)
|
rs121908341
|
|
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter)
|
rs1057516286
|
|
NM_015166.4(MLC1):c.848del (p.Ile283fs)
|
|
|
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
|
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
|
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)
|
|
|
NM_015166.4(MLC1):c.894+1G>A
|
|
|
NM_015166.4(MLC1):c.895-1G>C
|
rs755271052
|
|
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)
|
rs764754702
|
|
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)
|
rs1569242061
|
|
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
|
|
|
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)
|
rs281875313
|
|