NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)
|
rs1727094027
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
|
|
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NM_173660.4(DOK7):c.[1263delC];[1263dupC]
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|
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NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter)
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|
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NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs)
|
rs1728633687
|
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NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter)
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|
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NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)
|
rs544278158
|
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NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
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NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
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|
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NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
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NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
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NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
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NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
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NM_173660.5(DOK7):c.1330_1361del (p.Ser444fs)
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NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
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|
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NM_173660.5(DOK7):c.1356_1360del (p.Leu454fs)
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|
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NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
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|
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NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
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NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter)
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|
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NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
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NM_173660.5(DOK7):c.1476_1477insA (p.Pro493fs)
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|
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NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.1501_1502del (p.Asn501fs)
|
|
|
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
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|
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NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
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NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
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NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
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NM_173660.5(DOK7):c.332-1G>C
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|
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NM_173660.5(DOK7):c.332-1G>T
|
rs1490214819
|
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NM_173660.5(DOK7):c.332-2A>G
|
|
|
NM_173660.5(DOK7):c.391_394dup (p.His132fs)
|
|
|
NM_173660.5(DOK7):c.396C>G (p.His132Gln)
|
rs779798129
|
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NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.439del (p.Ala147fs)
|
rs1577153029
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
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NM_173660.5(DOK7):c.455G>A (p.Trp152Ter)
|
rs150376433
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
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NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
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NM_173660.5(DOK7):c.652+1dup
|
rs1727731607
|
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NM_173660.5(DOK7):c.682G>T (p.Glu228Ter)
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|
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NM_173660.5(DOK7):c.68G>A (p.Trp23Ter)
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|
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NM_173660.5(DOK7):c.773-1G>C
|
|
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NM_173660.5(DOK7):c.812_815dup (p.His272fs)
|
|
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NM_173660.5(DOK7):c.851G>A (p.Trp284Ter)
|
|
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NM_173660.5(DOK7):c.872C>G (p.Ser291Ter)
|
|
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NM_173660.5(DOK7):c.884C>G (p.Ser295Ter)
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|
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NM_173660.5(DOK7):c.944C>G (p.Ser315Ter)
|
|
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NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
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NM_173660.5(DOK7):c.976C>T (p.Gln326Ter)
|
|
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