NM_139125.4(MASP1):c.1374T>C (p.Pro458=)
|
rs710452
|
0.95860
|
NM_139125.4(MASP1):c.1851G>A (p.Leu617=)
|
rs850312
|
0.25342
|
NM_139125.4(MASP1):c.5+4C>T
|
rs72549254
|
0.16931
|
NM_139125.4(MASP1):c.1335C>T (p.Ser445=)
|
rs3774268
|
0.15314
|
NM_139125.4(MASP1):c.1727G>T (p.Arg576Met)
|
rs72549154
|
0.06887
|
NM_139125.4(MASP1):c.1386G>A (p.Pro462=)
|
rs35384947
|
0.01342
|
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu)
|
rs28945068
|
0.01228
|
NM_139125.4(MASP1):c.547+14A>G
|
rs72549251
|
0.01000
|
NM_139125.4(MASP1):c.417T>C (p.Asp139=)
|
rs72549252
|
0.00909
|
NM_139125.4(MASP1):c.1824T>C (p.Ser608=)
|
rs7652842
|
0.00839
|
NM_139125.4(MASP1):c.1746G>A (p.Pro582=)
|
rs3821805
|
0.00442
|
NM_139125.4(MASP1):c.1062G>A (p.Thr354=)
|
rs116763673
|
0.00431
|
NM_139125.4(MASP1):c.238-9A>G
|
rs72549171
|
0.00387
|
NM_139125.4(MASP1):c.1552G>A (p.Val518Ile)
|
rs73068950
|
0.00329
|
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)
|
rs139497497
|
0.00216
|
NM_139125.4(MASP1):c.893-14T>G
|
rs188032187
|
0.00190
|
NM_139125.4(MASP1):c.64G>A (p.Val22Met)
|
rs77189011
|
0.00172
|
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser)
|
rs145045341
|
0.00142
|
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)
|
rs116001173
|
0.00116
|
NM_139125.4(MASP1):c.501C>G (p.Ser167=)
|
rs16861801
|
0.00106
|
NM_139125.4(MASP1):c.1322G>A (p.Arg441His)
|
rs141872329
|
0.00101
|
NM_139125.4(MASP1):c.1125C>T (p.His375=)
|
rs34207306
|
0.00099
|
NM_139125.4(MASP1):c.1136C>T (p.Thr379Ile)
|
rs146265553
|
0.00078
|
NM_139125.4(MASP1):c.1091-11T>C
|
rs201073458
|
0.00063
|
NM_139125.4(MASP1):c.1352T>C (p.Ile451Thr)
|
rs200641208
|
0.00043
|
NM_139125.4(MASP1):c.1520C>T (p.Thr507Met)
|
rs200778904
|
0.00043
|
NM_139125.4(MASP1):c.1143T>C (p.Ser381=)
|
rs141985299
|
0.00039
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys)
|
rs28945071
|
0.00034
|
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)
|
rs201025468
|
0.00031
|
NM_139125.4(MASP1):c.1959C>T (p.Tyr653=)
|
rs139958520
|
0.00031
|
NM_139125.4(MASP1):c.1931C>T (p.Thr644Met)
|
rs146714674
|
0.00029
|
NM_139125.4(MASP1):c.1012-17T>C
|
rs201766436
|
0.00022
|
NM_139125.4(MASP1):c.1932G>A (p.Thr644=)
|
rs143503196
|
0.00021
|
NM_139125.4(MASP1):c.1467G>A (p.Ala489=)
|
rs149695036
|
0.00018
|
NM_139125.4(MASP1):c.1187C>T (p.Ser396Phe)
|
rs199907557
|
0.00014
|
NM_139125.4(MASP1):c.1869C>T (p.Pro623=)
|
rs775726494
|
0.00012
|
NM_139125.4(MASP1):c.637C>T (p.Leu213=)
|
rs28945069
|
0.00011
|
NM_139125.4(MASP1):c.1012-9T>C
|
rs754743294
|
0.00009
|
NM_139125.4(MASP1):c.1304-10C>G
|
rs775750936
|
0.00009
|
NM_139125.4(MASP1):c.1216A>C (p.Asn406His)
|
rs374775501
|
0.00006
|
NM_139125.4(MASP1):c.315G>C (p.Glu105Asp)
|
rs776909379
|
0.00006
|
NM_139125.4(MASP1):c.1992C>T (p.Ser664=)
|
rs200393551
|
0.00004
|
NM_139125.4(MASP1):c.1993G>A (p.Gly665Ser)
|
rs756893343
|
0.00004
|
NM_139125.4(MASP1):c.491A>G (p.Tyr164Cys)
|
rs535846193
|
0.00004
|
NM_139125.4(MASP1):c.722C>T (p.Pro241Leu)
|
rs375399118
|
0.00004
|
NM_139125.4(MASP1):c.1350C>T (p.Ile450=)
|
rs143748671
|
0.00003
|
NM_139125.4(MASP1):c.1446G>T (p.Gly482=)
|
rs768885799
|
0.00003
|
NM_139125.4(MASP1):c.510C>T (p.Phe170=)
|
rs553549384
|
0.00003
|
NM_139125.4(MASP1):c.1508G>A (p.Arg503His)
|
rs560233325
|
0.00002
|
NM_139125.4(MASP1):c.1226C>G (p.Thr409Arg)
|
rs1294798412
|
0.00001
|
NM_139125.4(MASP1):c.49G>T (p.Ala17Ser)
|
rs746649361
|
0.00001
|
NC_000003.11:g.(?_186256465)_(186980528_?)del
|
|
|
NC_000003.11:g.(?_186256465)_(187009440_?)del
|
|
|
NC_000003.11:g.(?_186256485)_(187009420_?)dup
|
|
|
NC_000003.12:g.(?_187235664)_(187256880_?)del
|
|
|
NM_139125.4(MASP1):c.1012-10C>A
|
|
|
NM_139125.4(MASP1):c.1091-10_1091-8del
|
|
|
NM_139125.4(MASP1):c.1155C>T (p.Asn385=)
|
|
|
NM_139125.4(MASP1):c.1228+12A>G
|
|
|
NM_139125.4(MASP1):c.125G>A (p.Ser42Asn)
|
rs1717812573
|
|
NM_139125.4(MASP1):c.1419G>C (p.Ser473=)
|
|
|
NM_139125.4(MASP1):c.1586C>T (p.Ser529Leu)
|
|
|
NM_139125.4(MASP1):c.1704C>T (p.His568=)
|
|
|
NM_139125.4(MASP1):c.1832G>A (p.Arg611Gln)
|
|
|
NM_139125.4(MASP1):c.1910G>A (p.Arg637His)
|
rs115022399
|
|
NM_139125.4(MASP1):c.1976C>A (p.Thr659Lys)
|
rs757937866
|
|
NM_139125.4(MASP1):c.2061G>A (p.Gly687=)
|
|
|
NM_139125.4(MASP1):c.2061G>C (p.Gly687=)
|
|
|
NM_139125.4(MASP1):c.2076C>A (p.Cys692Ter)
|
|
|
NM_139125.4(MASP1):c.2169G>A (p.Glu723=)
|
|
|
NM_139125.4(MASP1):c.267C>T (p.Thr89=)
|
|
|
NM_139125.4(MASP1):c.318G>A (p.Val106=)
|
rs150600860
|
|
NM_139125.4(MASP1):c.322C>T (p.Leu108Phe)
|
rs1476401872
|
|
NM_139125.4(MASP1):c.415+13A>C
|
|
|
NM_139125.4(MASP1):c.415+19T>C
|
|
|
NM_139125.4(MASP1):c.444C>T (p.Asp148=)
|
|
|
NM_139125.4(MASP1):c.579G>A (p.Arg193=)
|
|
|
NM_139125.4(MASP1):c.745-18C>T
|
|
|
NM_139125.4(MASP1):c.745-27TC[9]
|
rs745796040
|
|
NM_139125.4(MASP1):c.753T>G (p.Val251=)
|
|
|
NM_139125.4(MASP1):c.812dup (p.Ser272fs)
|
rs1560255926
|
|
NM_139125.4(MASP1):c.953A>C (p.Lys318Thr)
|
|
|