NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
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NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00004
|
NM_182760.4(SUMF1):c.670C>T (p.Arg224Trp)
|
rs759888604
|
0.00002
|
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)
|
rs137852846
|
0.00001
|
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)
|
rs137852847
|
0.00001
|
NM_182760.4(SUMF1):c.445-1G>A
|
rs1237016251
|
0.00001
|
NM_182760.4(SUMF1):c.445-2A>G
|
rs1293658639
|
0.00001
|
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)
|
rs137852854
|
0.00001
|
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
|
rs772711848
|
0.00001
|
NM_182760.4(SUMF1):c.955-1G>T
|
rs1247498705
|
0.00001
|
NC_000003.11:g.(?_4452529)_(4494753_?)del
|
|
|
NC_000003.11:g.(?_4490930)_(4494753_?)del
|
|
|
NC_000003.11:g.(?_4490940)_(4494743_?)del
|
|
|
NC_000003.11:g.(?_4494540)_(4494753_?)del
|
|
|
NC_000003.12:g.(?_4410855)_(4420156_?)del
|
|
|
NC_000003.12:g.(?_4452866)_(4453059_?)del
|
|
|
NM_182760.4(SUMF1):c.1040del (p.Ala347fs)
|
rs2125176154
|
|
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
|
rs1421066733
|
|
NM_182760.4(SUMF1):c.193_205delinsCGG (p.Ala65fs)
|
rs2124822828
|
|
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter)
|
rs986500427
|
|
NM_182760.4(SUMF1):c.25_270+3del
|
rs1575266004
|
|
NM_182760.4(SUMF1):c.270+1del
|
rs2079966206
|
|
NM_182760.4(SUMF1):c.271-1G>C
|
|
|
NM_182760.4(SUMF1):c.271-1del
|
|
|
NM_182760.4(SUMF1):c.279del (p.Ile94fs)
|
rs2125134167
|
|
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)
|
rs137852851
|
|
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)
|
rs1085307107
|
|
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
|
rs1703021709
|
|
NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys)
|
rs746433657
|
|
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu)
|
rs2125124343
|
|
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
|
|
|
NM_182760.4(SUMF1):c.726-1G>A
|
rs1215549413
|
|
NM_182760.4(SUMF1):c.726-1G>C
|
rs1215549413
|
|
NM_182760.4(SUMF1):c.726-1_726del
|
rs1575196325
|
|
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)
|
rs1057517363
|
|
NM_182760.4(SUMF1):c.840+1G>A
|
|
|
NM_182760.4(SUMF1):c.841-2A>T
|
rs1487159473
|
|
NM_182760.4(SUMF1):c.860A>T (p.Asn287Ile)
|
rs766298096
|
|
NM_182760.4(SUMF1):c.954+1G>A
|
rs1701516867
|
|
NM_182760.4(SUMF1):c.954+1G>T
|
rs1701516867
|
|
NM_182760.4(SUMF1):c.955-2A>G
|
|
|
NM_182760.4(SUMF1):c.955-3_970del
|
|
|