NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
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rs146220228
|
0.00222
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
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rs143885622
|
0.00152
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
NM_000377.3(WAS):c.413G>A (p.Arg138Gln)
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rs139265251
|
0.00073
|
NM_000377.3(WAS):c.1299G>A (p.Ala433=)
|
rs372649110
|
0.00006
|
NM_000377.3(WAS):c.68C>G (p.Pro23Arg)
|
rs1464176187
|
0.00001
|
NC_000023.11:g.48681722_48688043inv
|
|
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NM_000377.2(WAS):c.509_510del
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rs2062418811
|
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NM_000377.3(WAS):c.1001del (p.Gly334fs)
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rs1569494025
|
|
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)
|
rs132630271
|
|
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
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|
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NM_000377.3(WAS):c.1052del (p.Pro351fs)
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rs2147266405
|
|
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
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|
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NM_000377.3(WAS):c.1097del (p.Gly366fs)
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rs587776744
|
|
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
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|
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NM_000377.3(WAS):c.1157del (p.Pro386fs)
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rs886041379
|
|
NM_000377.3(WAS):c.11del (p.Gly4fs)
|
rs587776745
|
|
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs)
|
rs2147266901
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
|
|
|
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)
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rs2147262523
|
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NM_000377.3(WAS):c.1315_1453+204del
|
rs1602179794
|
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NM_000377.3(WAS):c.1337_1338+9del
|
rs1602179810
|
|
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)
|
rs2062432605
|
|
NM_000377.3(WAS):c.1405dup (p.Ala469fs)
|
rs2062432653
|
|
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly)
|
rs2147267330
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
NM_000377.3(WAS):c.177del (p.Gly60fs)
|
rs2147262829
|
|
NM_000377.3(WAS):c.1A>T (p.Met1Leu)
|
rs587776742
|
|
NM_000377.3(WAS):c.210G>A (p.Gly70=)
|
rs886038288
|
|
NM_000377.3(WAS):c.226_228del (p.Lys76del)
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)
|
rs132630268
|
|
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)
|
rs132630268
|
|
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
|
rs193922414
|
|
NM_000377.3(WAS):c.315dup (p.Val106fs)
|
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
NM_000377.3(WAS):c.360+1G>C
|
rs1057520700
|
|
NM_000377.3(WAS):c.360+5G>A
|
|
|
NM_000377.3(WAS):c.374G>A (p.Gly125Glu)
|
rs1557006534
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
|
|
|
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3])
|
rs587776743
|
|
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)
|
rs2062417344
|
|
NM_000377.3(WAS):c.445A>T (p.Asn149Tyr)
|
rs2147263992
|
|
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
NM_000377.3(WAS):c.559+2T>G
|
rs1602177733
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
NM_000377.3(WAS):c.560-1G>A
|
rs1602178087
|
|
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
|
|
|
NM_000377.3(WAS):c.723del (p.Ser242fs)
|
rs2147264981
|
|
NM_000377.3(WAS):c.724del (p.Ser242fs)
|
rs2147264989
|
|
NM_000377.3(WAS):c.735-2A>G
|
rs1602178800
|
|
NM_000377.3(WAS):c.73_74del (p.Thr25fs)
|
rs1602176299
|
|
NM_000377.3(WAS):c.763dup (p.Gln255fs)
|
rs193922416
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
NM_000377.3(WAS):c.778-1G>A
|
rs2147265861
|
|
NM_000377.3(WAS):c.802del (p.Arg268fs)
|
rs2147265894
|
|
NM_000377.3(WAS):c.852del (p.Glu285fs)
|
rs1557007035
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
NM_000377.3(WAS):c.990del (p.Ile331fs)
|
rs2147266326
|
|
WAS, 15,800-BP DEL
|
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