NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)
|
rs752550849
|
0.00001
|
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter)
|
rs398124268
|
0.00001
|
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)
|
rs1391540245
|
0.00001
|
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter)
|
rs371642222
|
0.00001
|
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
|
rs771533907
|
0.00001
|
NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs)
|
rs771827120
|
0.00001
|
GRCh37/hg19 7q35(chr7:146997280-146997587)
|
|
|
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
|
|
|
GRCh38/hg38 7q36.1(chr7:148383649-148383888)x1
|
|
|
NC_000007.13:g.(146536997_146740998)_(146741147_146805238)del
|
|
|
NC_000007.13:g.(?_145813969)_(145814085_?)del
|
|
|
NC_000007.13:g.(?_145813969)_(146537016_?)del
|
|
|
NC_000007.13:g.(?_145813969)_(148112708_?)del
|
|
|
NC_000007.13:g.(?_146471353)_(146537006_?)del
|
|
|
NC_000007.13:g.(?_146536783)_(146537016_?)del
|
|
|
NC_000007.13:g.(?_146740979)_(146829621_?)del
|
|
|
NC_000007.13:g.(?_146740989)_(146741156_?)del
|
|
|
NC_000007.13:g.(?_147183007)_(147183153_?)del
|
|
|
NC_000007.14:g.(?_146116001)_(146116993_?)del
|
|
|
NC_000007.14:g.(?_146774251)_(146839924_?)del
|
|
|
NC_000007.14:g.(?_147043887)_(147044074_?)del
|
|
|
NC_000007.14:g.(?_147043887)_(147300310_?)del
|
|
|
NC_000007.14:g.(?_147132225)_(147132529_?)del
|
|
|
NC_000007.14:g.(?_147300121)_(147395800_?)del
|
|
|
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
|
|
|
NM_014141.6(CNTNAP2):c.1108G>T (p.Glu370Ter)
|
|
|
NM_014141.6(CNTNAP2):c.1295del (p.Gly432fs)
|
rs1801395870
|
|
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)
|
rs1794916576
|
|
NM_014141.6(CNTNAP2):c.1399G>T (p.Glu467Ter)
|
rs986848347
|
|
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter)
|
rs149032771
|
|
NM_014141.6(CNTNAP2):c.1671-1G>T
|
rs730880276
|
|
NM_014141.6(CNTNAP2):c.1680del (p.Asn561fs)
|
|
|
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer)
|
rs1554490549
|
|
NM_014141.6(CNTNAP2):c.1777+2T>C
|
|
|
NM_014141.6(CNTNAP2):c.1807A>T (p.Lys603Ter)
|
|
|
NM_014141.6(CNTNAP2):c.1843dup (p.Asp615fs)
|
rs2116789389
|
|
NM_014141.6(CNTNAP2):c.2011C>T (p.Gln671Ter)
|
rs2116924115
|
|
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter)
|
rs201076428
|
|
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
|
|
|
NM_014141.6(CNTNAP2):c.2117G>A (p.Trp706Ter)
|
rs1799910521
|
|
NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter)
|
rs2116752243
|
|
NM_014141.6(CNTNAP2):c.2197G>T (p.Glu733Ter)
|
|
|
NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer)
|
rs1585020100
|
|
NM_014141.6(CNTNAP2):c.2396del (p.Asn799fs)
|
rs2116608214
|
|
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter)
|
rs267601384
|
|
NM_014141.6(CNTNAP2):c.2569del (p.Ser857fs)
|
|
|
NM_014141.6(CNTNAP2):c.2646G>A (p.Trp882Ter)
|
rs1247068015
|
|
NM_014141.6(CNTNAP2):c.3256C>T (p.Gln1086Ter)
|
|
|
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)
|
rs766777011
|
|
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter)
|
rs1159246607
|
|
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs)
|
rs772883080
|
|
NM_014141.6(CNTNAP2):c.3588_3591del (p.Asn1198fs)
|
rs746615217
|
|
NM_014141.6(CNTNAP2):c.3693dup (p.His1232fs)
|
|
|
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs)
|
rs730880275
|
|
NM_014141.6(CNTNAP2):c.401G>A (p.Trp134Ter)
|
rs1458942108
|
|
NM_014141.6(CNTNAP2):c.402G>A (p.Trp134Ter)
|
|
|
NM_014141.6(CNTNAP2):c.431dup (p.Val145fs)
|
|
|
NM_014141.6(CNTNAP2):c.481dup (p.Ile161fs)
|
rs1799307071
|
|
NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter)
|
rs2129279519
|
|
NM_014141.6(CNTNAP2):c.610A>T (p.Lys204Ter)
|
|
|
NM_014141.6(CNTNAP2):c.636del (p.Ile212fs)
|
rs1584848275
|
|
NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter)
|
rs2129279547
|
|
NM_014141.6(CNTNAP2):c.655del (p.Ser219fs)
|
rs2129279551
|
|
NM_014141.6(CNTNAP2):c.682G>T (p.Gly228Ter)
|
rs371512835
|
|
NM_014141.6(CNTNAP2):c.773_774dup (p.Ile259fs)
|
|
|
NM_014141.6(CNTNAP2):c.782_783insGA (p.His262fs)
|
rs2129282705
|
|
NM_014141.6(CNTNAP2):c.797del (p.Met266fs)
|
|
|
NM_014141.6(CNTNAP2):c.97+1G>A
|
rs972116002
|
|