NM_000330.4(RS1):c.295A>G (p.Asn99Asp)
|
rs144683916
|
0.01920
|
NM_000330.4(RS1):c.523-10A>C
|
rs142428831
|
0.00691
|
NM_000330.4(RS1):c.258G>A (p.Pro86=)
|
rs147290350
|
0.00472
|
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)
|
rs150172233
|
0.00178
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_000330.4(RS1):c.285G>A (p.Ser95=)
|
rs143920122
|
0.00018
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000330.4(RS1):c.521G>A (p.Arg174Gln)
|
rs765547068
|
0.00003
|
NM_000330.4(RS1):c.257C>T (p.Pro86Leu)
|
rs761385911
|
0.00002
|
NM_000330.4(RS1):c.320G>A (p.Gly107Asp)
|
rs143682861
|
0.00002
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000330.4(RS1):c.471C>T (p.Thr157=)
|
rs754381417
|
0.00002
|
NM_000330.4(RS1):c.213C>T (p.Phe71=)
|
rs764292483
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.221G>T (p.Gly74Val)
|
rs104894933
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.326+8G>C
|
rs752870628
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000330.4(RS1):c.572G>A (p.Arg191Gln)
|
rs1402116265
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
NM_000330.4(RS1):c.185-1G>C
|
rs281865344
|
|
NM_000330.4(RS1):c.187T>C (p.Cys63Arg)
|
rs2147194234
|
|
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)
|
rs1927824776
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)
|
rs62645895
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)
|
rs1927823799
|
|
NM_000330.4(RS1):c.216G>C (p.Glu72Asp)
|
rs104894932
|
|
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)
|
rs61752060
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.287G>A (p.Trp96Ter)
|
rs2147193970
|
|
NM_000330.4(RS1):c.320G>T (p.Gly107Val)
|
rs143682861
|
|
NM_000330.4(RS1):c.327-14_410del
|
rs2147191292
|
|
NM_000330.4(RS1):c.327-6C>A
|
rs372728604
|
|
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)
|
rs199469696
|
|
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)
|
rs61752147
|
|
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
|
|
|
NM_000330.4(RS1):c.409C>T (p.Leu137Phe)
|
rs1927700931
|
|
NM_000330.4(RS1):c.419G>A (p.Gly140Glu)
|
rs61752157
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.439T>C (p.Trp147Arg)
|
rs2147191229
|
|
NM_000330.4(RS1):c.455del (p.Ser152fs)
|
|
|
NM_000330.4(RS1):c.460C>G (p.Gln154Glu)
|
rs61753164
|
|
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)
|
rs2147191205
|
|
NM_000330.4(RS1):c.488G>A (p.Trp163Ter)
|
rs2147191142
|
|
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)
|
rs1057516744
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.523-10_523-7del
|
rs746069375
|
|
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)
|
rs2147189125
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000330.4(RS1):c.578C>A (p.Pro193His)
|
rs281865352
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.649del (p.Leu217fs)
|
rs1927598075
|
|
NM_000330.4(RS1):c.667T>C (p.Cys223Arg)
|
rs104894929
|
|
NM_000330.4(RS1):c.673T>C (p.Ter225Arg)
|
rs1057517433
|
|