NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs)
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rs1470760407
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0.00001
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NM_002076.4(GNS):c.355del (p.Ser119fs)
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rs749187018
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0.00001
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NM_002076.4(GNS):c.875+2del
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rs1219484230
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0.00001
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NC_000012.12:g.(?_64739371)_(64747928_?)del
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NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
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NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
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rs119461974
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NM_002076.4(GNS):c.1098+1G>A
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NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)
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rs483352899
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NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)
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rs119461975
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NM_002076.4(GNS):c.1169del (p.Gln390fs)
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rs483352898
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NM_002076.4(GNS):c.118del (p.Val40fs)
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rs2136259376
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NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
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rs1869297835
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NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
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|
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NM_002076.4(GNS):c.1226dup (p.Ser410fs)
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rs483352900
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NM_002076.4(GNS):c.1231dup (p.Asp411fs)
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NM_002076.4(GNS):c.1249C>T (p.Gln417Ter)
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rs2136237909
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NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
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rs2136237257
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NM_002076.4(GNS):c.1414dup (p.Gln472fs)
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NM_002076.4(GNS):c.1420-2A>G
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rs2136236649
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NM_002076.4(GNS):c.1459C>T (p.Gln487Ter)
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rs2136236619
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NM_002076.4(GNS):c.148dup (p.Val50fs)
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rs2136259310
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NM_002076.4(GNS):c.214_220del (p.Ala72fs)
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rs759378094
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NM_002076.4(GNS):c.23del (p.Pro8fs)
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rs2136259586
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NM_002076.4(GNS):c.246del (p.Ser83fs)
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|
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NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
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|
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NM_002076.4(GNS):c.257_258del (p.Val86fs)
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|
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NM_002076.4(GNS):c.286_287del (p.Ala96fs)
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|
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NM_002076.4(GNS):c.320_326del (p.His107fs)
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NM_002076.4(GNS):c.379del (p.Gln127fs)
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rs1869941124
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NM_002076.4(GNS):c.386dup (p.Asn130fs)
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rs2136249878
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NM_002076.4(GNS):c.400del (p.Ala134fs)
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NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
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|
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NM_002076.4(GNS):c.441del (p.Lys149fs)
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|
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NM_002076.4(GNS):c.459+1_459+2del
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rs2136249835
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NM_002076.4(GNS):c.49dup (p.Arg17fs)
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|
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NM_002076.4(GNS):c.4del (p.Arg2fs)
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rs2136259630
|
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NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
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rs2136248862
|
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NM_002076.4(GNS):c.526G>T (p.Glu176Ter)
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rs2136248430
|
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NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
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rs2136248422
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NM_002076.4(GNS):c.59_66del (p.Pro20fs)
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|
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NM_002076.4(GNS):c.638del (p.Leu213fs)
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rs2136247658
|
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NM_002076.4(GNS):c.654C>A (p.Tyr218Ter)
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rs2136247644
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NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
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|
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NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
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|
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NM_002076.4(GNS):c.732C>A (p.Tyr244Ter)
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rs2136247574
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NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
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|
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NM_002076.4(GNS):c.814C>T (p.Gln272Ter)
|
rs1365770233
|
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NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer)
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rs2136246147
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NM_002076.4(GNS):c.875+1G>A
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rs1214781989
|
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NM_002076.4(GNS):c.876-2A>G
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|
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NM_002076.4(GNS):c.887_888del (p.Leu296fs)
|
rs2136245530
|
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NM_002076.4(GNS):c.937dup (p.Thr313fs)
|
|
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NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
|
|
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NM_002076.4(GNS):c.974C>G (p.Ser325Ter)
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