NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NC_000006.11:g.(?_110012639)_(110064995_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110053276_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110098283_?)del
|
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|