NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs)
|
rs1366401484
|
0.00001
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
NC_000015.10:g.(?_38253186)_(38253227_?)del
|
|
|
NC_000015.10:g.(?_38299363)_(38324819_?)del
|
|
|
NC_000015.10:g.(?_38299373)_(38357249_?)del
|
|
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NC_000015.9:g.(?_38545367)_(38545438_?)del
|
|
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NC_000015.9:g.(?_38545387)_(38545438_?)del
|
|
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NC_000015.9:g.(?_38545387)_(38643865_?)del
|
|
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NC_000015.9:g.(?_38591568)_(38643870_?)del
|
|
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NC_000015.9:g.(?_38614422)_(38617030_?)del
|
|
|
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)
|
rs2141016437
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
|
|
|
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter)
|
rs1555389690
|
|
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
|
|
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NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)
|
rs1566876929
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs)
|
rs1566876941
|
|
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)
|
rs1566876954
|
|
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
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|
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NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
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|
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NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)
|
rs1555392783
|
|
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
|
|
|
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)
|
rs2141016553
|
|
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
|
|
|
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
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|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
|
rs1595763928
|
|
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
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NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
|
|
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NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)
|
rs2141016685
|
|
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
|
|
|
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)
|
rs2141016692
|
|
NM_152594.3(SPRED1):c.1273del (p.Met425fs)
|
rs2141016737
|
|
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp)
|
rs121434318
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
|
|
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NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
|
rs1895110802
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.1A>G (p.Met1Val)
|
rs1894017295
|
|
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)
|
rs727504170
|
|
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)
|
rs1566867209
|
|
NM_152594.3(SPRED1):c.272del (p.His91fs)
|
|
|
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
|
|
|
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)
|
rs1566867246
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.305del (p.Thr102fs)
|
rs2140994872
|
|
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
|
rs1595746834
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
|
|
|
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)
|
rs1555391061
|
|
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
|
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)
|
rs1895621783
|
|
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)
|
rs1566868022
|
|
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)
|
rs764823722
|
|
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
|
rs1895677481
|
|
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
|
rs1324903101
|
|
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
|
|
|
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)
|
rs2140978331
|
|
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.423+1G>A
|
rs1566868058
|
|
NM_152594.3(SPRED1):c.423+2T>C
|
rs1555391161
|
|
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
|
|
|
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
|
|
|
NM_152594.3(SPRED1):c.475del (p.Gln159fs)
|
rs2141007796
|
|
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
|
|
|
NM_152594.3(SPRED1):c.493dup (p.Ser165fs)
|
rs1555392032
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
|
|
|
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)
|
rs2141014847
|
|
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)
|
rs368660900
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)
|
rs121434314
|
|
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter)
|
rs1555392609
|
|
NM_152594.3(SPRED1):c.684+1G>T
|
|
|
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)
|
rs2141016007
|
|
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
|
|
|
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
|
|
|
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
|
|
|
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)
|
rs1888473716
|
|
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter)
|
rs121434317
|
|
NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs)
|
|
|
NM_152594.3(SPRED1):c.794dup (p.Asp265fs)
|
rs2141016108
|
|
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
|
rs864622410
|
|
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs)
|
rs1555386651
|
|
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
|
rs1595763557
|
|
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)
|
rs755557783
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
|
rs1595763656
|
|
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
|
rs1595763662
|
|
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
|
rs1595763659
|
|
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)
|
rs1555392759
|
|
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
|
|
|
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
|
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|