|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
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.(?_3465103)_(3465298_?)del
|
|
|
|
NC_000004.11:g.(?_3494466)_(3495228_?)del
|
|
|
|
NC_000004.12:g.(?_3463366)_(3493511_?)del
|
|
|
|
NC_000004.12:g.(?_3485529)_(3485668_?)del
|
|
|
|
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
|
NM_173660.5(DOK7):c.1138del (p.Ala380fs)
|
|
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
|
NM_173660.5(DOK7):c.1264del (p.Ser422fs)
|
rs1258346283
|
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
|
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
|
|
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
|
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
|
|
|
|
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
|
|
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
|
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
|
|
|
|
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
|
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
|
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
|
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
|
|
|
|
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)
|
rs550024569
|
|
|
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
|
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
|
NM_173660.5(DOK7):c.810_811del (p.His272fs)
|
rs778227501
|
|
|
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
|
|
|
|
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
|
|
|
|
NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
|
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
|
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
|
|
|
|
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
|