NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
NC_000010.10:g.(?_104263900)_(104389922_?)del
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|
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NC_000010.10:g.(?_104352329)_(104352491_?)del
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NC_000010.10:g.(?_104352329)_(104353832_?)del
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|
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NC_000010.10:g.(?_104386922)_(104392580_?)del
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|
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NC_000010.11:(102444036_?)_(?_104726221)del
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|
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NC_000010.11:g.(?_102549960)_(102550116_?)del
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|
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NC_000010.11:g.(?_102593630)_(102597299_?)del
|
|
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NM_016169.4(SUFU):c.1009del (p.His337fs)
|
rs869300423
|
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NM_016169.4(SUFU):c.1018del (p.Ala340fs)
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rs2135889203
|
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NM_016169.4(SUFU):c.1022+1G>A
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rs587776578
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NM_016169.4(SUFU):c.1022del (p.Pro341fs)
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|
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NM_016169.4(SUFU):c.1077del (p.Glu359fs)
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rs2135930082
|
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NM_016169.4(SUFU):c.111del (p.Tyr38fs)
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rs863224925
|
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NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
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NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs)
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|
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NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
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|
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NM_016169.4(SUFU):c.1220_1221insT (p.Phe408fs)
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rs2063697672
|
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NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
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|
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NM_016169.4(SUFU):c.124dup (p.Arg42fs)
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rs2062292476
|
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NM_016169.4(SUFU):c.1290G>A (p.Trp430Ter)
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rs1590084324
|
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NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
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|
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NM_016169.4(SUFU):c.143dup (p.Pro49fs)
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rs1589970134
|
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NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)
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rs2135598685
|
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NM_016169.4(SUFU):c.160del (p.Val54fs)
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rs2135598717
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NM_016169.4(SUFU):c.171dup (p.Val58fs)
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rs1554840869
|
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NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)
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rs1564654588
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NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
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|
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NM_016169.4(SUFU):c.225del (p.Asn76fs)
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|
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NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
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|
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NM_016169.4(SUFU):c.341del (p.Ser114fs)
|
rs1060501108
|
|
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)
|
rs2135743382
|
|
NM_016169.4(SUFU):c.454+1G>A
|
rs1564676479
|
|
NM_016169.4(SUFU):c.479del (p.His160fs)
|
rs2135866639
|
|
NM_016169.4(SUFU):c.527A>G (p.His176Arg)
|
rs1554852272
|
|
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
|
|
|
NM_016169.4(SUFU):c.576dup (p.Gly193fs)
|
rs2135867295
|
|
NM_016169.4(SUFU):c.581del (p.Val194fs)
|
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
|
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NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
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|
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NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
|
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NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)
|
rs2063471372
|
|
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)
|
rs1564698683
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
NM_016169.4(SUFU):c.847dup (p.Glu283fs)
|
rs2063472158
|
|
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)
|
rs2135881899
|
|
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)
|
rs2135882212
|
|
NM_016169.4(SUFU):c.892del (p.Arg298fs)
|
rs2063473101
|
|
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)
|
rs2135882232
|
|
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
|
|
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NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)
|
rs1564698850
|
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NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)
|
rs2135888594
|
|