NM_001734.5(C1S):c.943G>A (p.Asp315Asn)
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rs117907409
|
0.00349
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NM_001733.7(C1R):c.336G>C (p.Met112Ile)
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rs139531404
|
0.00271
|
NM_001733.7(C1R):c.277G>T (p.Gly93Cys)
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rs200185988
|
0.00045
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NM_001734.5(C1S):c.100A>G (p.Ser34Gly)
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rs148105120
|
0.00043
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NM_001734.5(C1S):c.979G>C (p.Val327Leu)
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rs2239170
|
0.00032
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NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
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rs121909582
|
0.00020
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NM_001733.7(C1R):c.445C>T (p.Arg149Trp)
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rs373462345
|
0.00014
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NM_001734.5(C1S):c.124A>G (p.Ile42Val)
|
rs781944012
|
0.00006
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NM_001734.5(C1S):c.622T>C (p.Leu208=)
|
rs144205018
|
0.00006
|
NM_001734.5(C1S):c.991C>T (p.Arg331Cys)
|
rs140488585
|
0.00004
|
NM_001734.5(C1S):c.347A>G (p.Asn116Ser)
|
rs782390414
|
0.00003
|
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)
|
rs782329906
|
0.00001
|
NM_001734.5(C1S):c.514G>A (p.Gly172Arg)
|
rs375308014
|
0.00001
|
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)
|
rs1057519577
|
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NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr)
|
|
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NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)
|
rs1057518645
|
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NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)
|
rs1057519578
|
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NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)
|
rs1057519579
|
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NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
|
rs1057519580
|
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NM_001733.7(C1R):c.1202G>A (p.Arg401His)
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|
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NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)
|
rs1060499554
|
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NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs)
|
rs1938056582
|
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NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)
|
rs1057519025
|
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NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
|
|
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NM_001733.7(C1R):c.231+6G>A
|
|
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NM_001733.7(C1R):c.419C>T (p.Ala140Val)
|
|
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NM_001733.7(C1R):c.424+2T>C
|
|
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NM_001733.7(C1R):c.450C>A (p.Ser150Arg)
|
|
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NM_001733.7(C1R):c.542A>G (p.Glu181Gly)
|
|
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NM_001733.7(C1R):c.646C>A (p.Pro216Thr)
|
rs367700816
|
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NM_001733.7(C1R):c.646C>G (p.Pro216Ala)
|
rs367700816
|
|
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)
|
rs1057518643
|
|
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)
|
rs1057519026
|
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NM_001733.7(C1R):c.899T>C (p.Leu300Pro)
|
rs1057515579
|
|
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)
|
rs760277934
|
|
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)
|
rs1057519576
|
|
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)
|
rs1057518646
|
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NM_001733.7(C1R):c.927C>G (p.Cys309Trp)
|
rs769707492
|
|
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
|
|
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NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
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NM_001734.5(C1S):c.2T>C (p.Met1Thr)
|
|
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NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)
|
|
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NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
|
|
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NM_001734.5(C1S):c.809T>C (p.Ile270Thr)
|
|
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NM_001734.5(C1S):c.880T>C (p.Cys294Arg)
|
rs886040975
|
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NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)
|
rs886040974
|
|