NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.651dup (p.Gly218fs)
|
rs1314623572
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
NM_172250.3(MMAA):c.756del (p.Val253fs)
|
rs1489525542
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
NC_000004.11:g.(?_146575136)_(146576596_?)del
|
|
|
NC_000004.12:g.(?_145639120)_(145642505_?)del
|
|
|
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
|
|
|
NM_172250.3(MMAA):c.1124del (p.Val375fs)
|
|
|
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)
|
rs2126617138
|
|
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)
|
rs1560795828
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.170del (p.Leu57fs)
|
|
|
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
|
|
|
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
|
rs754894257
|
|
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
|
rs1727720677
|
|
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
|
|
|
NM_172250.3(MMAA):c.388del (p.His130fs)
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.468dup (p.Ser157fs)
|
rs2126619930
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.639del (p.Arg214fs)
|
rs2126622813
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
|
rs1727922828
|
|
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
|
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
|
rs1728076151
|
|
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)
|
rs2126627182
|
|
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
|
|
|
NM_172250.3(MMAA):c.851del (p.Asp284fs)
|
|
|
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)
|
rs1340736923
|
|
NM_172250.3(MMAA):c.940del (p.Arg314fs)
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|