|
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=)
|
rs6136118
|
0.27904
|
|
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=)
|
rs6080717
|
0.26382
|
|
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)
|
rs6080719
|
0.20403
|
|
NM_001195.5(BFSP1):c.804C>T (p.Asn268=)
|
rs11537702
|
0.05390
|
|
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu)
|
rs16999317
|
0.01485
|
|
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp)
|
rs139124891
|
0.01147
|
|
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln)
|
rs200899362
|
0.01003
|
|
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala)
|
rs143850362
|
0.00985
|
|
NM_001195.5(BFSP1):c.736-16G>A
|
rs76806936
|
0.00427
|
|
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val)
|
rs142996076
|
0.00285
|
|
NM_001195.5(BFSP1):c.418A>G (p.Met140Val)
|
rs142092768
|
0.00275
|
|
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)
|
rs548358901
|
0.00264
|
|
NM_001195.5(BFSP1):c.762A>G (p.Lys254=)
|
rs35042144
|
0.00210
|
|
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser)
|
rs150798461
|
0.00099
|
|
NM_001195.5(BFSP1):c.1775C>T (p.Ala592Val)
|
rs145703098
|
0.00069
|
|
NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe)
|
rs151173407
|
0.00065
|
|
NM_001195.5(BFSP1):c.675G>A (p.Leu225=)
|
rs140834233
|
0.00064
|
|
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn)
|
rs561395667
|
0.00056
|
|
NM_001195.5(BFSP1):c.183C>T (p.Leu61=)
|
rs545346553
|
0.00030
|
|
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met)
|
rs145017887
|
0.00027
|
|
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr)
|
rs140135049
|
0.00027
|
|
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr)
|
rs147718368
|
0.00026
|
|
NM_001195.5(BFSP1):c.1939G>C (p.Glu647Gln)
|
rs148119487
|
0.00017
|
|
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp)
|
rs372210205
|
0.00009
|
|
NM_001195.5(BFSP1):c.735+9G>A
|
rs774559581
|
0.00008
|
|
NM_001195.5(BFSP1):c.627+9T>G
|
rs776455142
|
0.00004
|
|
NM_001195.5(BFSP1):c.735+17C>T
|
rs368674829
|
0.00003
|
|
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln)
|
rs765144287
|
0.00002
|
|
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala)
|
rs756439203
|
0.00002
|
|
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile)
|
rs752902567
|
0.00002
|
|
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln)
|
rs780229198
|
0.00001
|
|
NM_001195.5(BFSP1):c.1437C>T (p.Tyr479=)
|
rs760220303
|
0.00001
|
|
NM_001195.5(BFSP1):c.735+19C>T
|
rs747126284
|
0.00001
|
|
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)
|
rs1246080692
|
0.00001
|
|
NC_000020.10:g.(?_17462209)_(17511974_?)dup
|
|
|
|
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)
|
|
|
|
NM_001195.5(BFSP1):c.1042+7C>G
|
|
|
|
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)
|
rs886038419
|
|
|
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)
|
|
|
|
NM_001195.5(BFSP1):c.1197G>A (p.Leu399=)
|
|
|
|
NM_001195.5(BFSP1):c.125C>T (p.Ala42Val)
|
|
|
|
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)
|
|
|
|
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)
|
|
|
|
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)
|
|
|
|
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)
|
|
|
|
NM_001195.5(BFSP1):c.1521C>T (p.Asp507=)
|
|
|
|
NM_001195.5(BFSP1):c.157G>A (p.Ala53Thr)
|
|
|
|
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys)
|
|
|
|
NM_001195.5(BFSP1):c.1679G>A (p.Arg560His)
|
rs142869476
|
|
|
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=)
|
rs6080718
|
|
|
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=)
|
rs6080718
|
|
|
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_001195.5(BFSP1):c.1884C>T (p.Ile628=)
|
|
|
|
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr)
|
|
|
|
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs)
|
rs1555799947
|
|
|
NM_001195.5(BFSP1):c.202C>T (p.Leu68Phe)
|
|
|
|
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp)
|
|
|
|
NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)
|
rs2123536475
|
|
|
NM_001195.5(BFSP1):c.227A>C (p.Gln76Pro)
|
|
|
|
NM_001195.5(BFSP1):c.280A>C (p.Ser94Arg)
|
|
|
|
NM_001195.5(BFSP1):c.28A>C (p.Thr10Pro)
|
|
|
|
NM_001195.5(BFSP1):c.30C>T (p.Thr10=)
|
|
|
|
NM_001195.5(BFSP1):c.366G>A (p.Glu122=)
|
|
|
|
NM_001195.5(BFSP1):c.378-16T>C
|
rs1600661739
|
|
|
NM_001195.5(BFSP1):c.384A>G (p.Glu128=)
|
|
|
|
NM_001195.5(BFSP1):c.438+7G>A
|
|
|
|
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)
|
|
|
|
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)
|
|
|
|
NM_001195.5(BFSP1):c.561C>T (p.Ile187=)
|
|
|
|
NM_001195.5(BFSP1):c.628-14C>T
|
|
|
|
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr)
|
|
|
|
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)
|
|
|
|
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)
|
|
|
|
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)
|
|
|
|
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr)
|
|
|
|
NM_001195.5(BFSP1):c.93C>A (p.Ala31=)
|
|
|
|
NM_001195.5(BFSP1):c.956+7G>C
|
rs202146533
|
|
|
NM_001195.5(BFSP1):c.957-3C>T
|
|
|