NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
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rs2227624
|
0.00171
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)
|
rs121909568
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
AT-III Barcelona
|
|
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AT-III Fontainebleu
|
|
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AT-III Roma
|
|
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AT-III Trento
|
|
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NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs)
|
rs121909561
|
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NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)
|
rs121909565
|
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NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn)
|
rs121909558
|
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NM_000488.4(SERPINC1):c.1205del (p.Lys402fs)
|
rs2102778876
|
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NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)
|
rs121909557
|
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NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)
|
rs121909548
|
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NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp)
|
rs121909566
|
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NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)
|
rs121909554
|
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NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del)
|
rs2102773181
|
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NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)
|
rs121909550
|
|
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)
|
rs121909546
|
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NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)
|
rs121909555
|
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NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla)
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rs2102772927
|
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NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu)
|
rs121909564
|
|
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)
|
rs28929469
|
|
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)
|
rs121909547
|
|
NM_000488.4(SERPINC1):c.237dup (p.Val80fs)
|
rs2102789885
|
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NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg)
|
rs121909573
|
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NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)
|
rs121909569
|
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NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter)
|
rs121909562
|
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NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)
|
rs121909563
|
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NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr)
|
rs121909570
|
|
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro)
|
rs121909572
|
|
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro)
|
rs387906575
|
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NM_000488.4(SERPINC1):c.719dup (p.Asn240fs)
|
rs2102784614
|
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NM_000488.4(SERPINC1):c.779dup (p.Phe261fs)
|
rs1572088837
|
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NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs)
|
rs1657694750
|
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NM_000488.4(SERPINC1):c.830del (p.Glu277fs)
|
rs1572088775
|
|
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs)
|
rs121909560
|
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