Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42682830_42689520delCA915950015CNTNAP1c.1_1629-1del
c.-1020_1401-1del
ClinVar
17g.42687686A>CCA2576278110CNTNAP1c.1045-34A>C (n.1045-34A>C)
n.426A>C
c.817-34A>C (n.817-34A>C)
gnomAD v4
17g.42687687C=CA2260598492CNTNAP1c.1045-33C= (n.1045-33C=)
n.427C=
c.817-33C= (n.817-33C=)
17g.42687687C>GCA2841386970CNTNAP1c.1045-33C>G (n.1045-33C>G)
n.427C>G
c.817-33C>G (n.817-33C>G)
17g.42687687C>TCA8581696CNTNAP1c.1045-33C>T (n.1045-33C>T)
n.427C>T
c.817-33C>T (n.817-33C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687687_42687688insTCA2637974396CNTNAP1c.1045-33_1045-32insT (n.1045-33_1045-32insT)
n.427_428insT
c.817-33_817-32insT (n.817-33_817-32insT)
gnomAD v4
17g.42687687_42687688insTGAATTCCCAGCTGCA2260598493CNTNAP1c.1045-33_1045-32insTGAATTCCCAGCTG (n.1045-33_1045-32insTGAATTCCCAGCTG)
n.427_428insTGAATTCCCAGCTG
c.817-33_817-32insTGAATTCCCAGCTG (n.817-33_817-32insTGAATTCCCAGCTG)
dbSNP
17g.42687688G>ACA2260598495CNTNAP1c.1045-32G>A (n.1045-32G>A)
n.428G>A
c.817-32G>A (n.817-32G>A)
dbSNP gnomAD v4
17g.42687688G>CCA2637974397CNTNAP1c.1045-32G>C (n.1045-32G>C)
n.428G>C
c.817-32G>C (n.817-32G>C)
dbSNP gnomAD v4
17g.42687688G=CA2260598494CNTNAP1c.1045-32G= (n.1045-32G=)
n.428G=
c.817-32G= (n.817-32G=)
17g.42687688_42687689insAATTCCCAGCTGACA2637974398CNTNAP1c.1045-32_1045-31insAATTCCCAGCTGA (n.1045-32_1045-31insAATTCCCAGCTGA)
n.428_429insAATTCCCAGCTGA
c.817-32_817-31insAATTCCCAGCTGA (n.817-32_817-31insAATTCCCAGCTGA)
gnomAD v4
17g.42687689G>ACA983843198CNTNAP1c.1045-31G>A (n.1045-31G>A)
n.429G>A
c.817-31G>A (n.817-31G>A)
dbSNP gnomAD v3 gnomAD v4
17g.42687689G>CCA8581697CNTNAP1c.1045-31G>C (n.1045-31G>C)
n.429G>C
c.817-31G>C (n.817-31G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687689G=CA2260598496CNTNAP1c.1045-31G= (n.1045-31G=)
n.429G=
c.817-31G= (n.817-31G=)
17g.42687690G>ACA626069149CNTNAP1c.1045-30G>A (n.1045-30G>A)
n.430G>A
c.817-30G>A (n.817-30G>A)
dbSNP gnomAD v2 gnomAD v4
17g.42687690G>CCA8581698CNTNAP1c.1045-30G>C (n.1045-30G>C)
n.430G>C
c.817-30G>C (n.817-30G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687690G=CA2260598498CNTNAP1c.1045-30G= (n.1045-30G=)
n.430G=
c.817-30G= (n.817-30G=)
17g.42687690G>TCA2260598497CNTNAP1c.1045-30G>T (n.1045-30G>T)
n.430G>T
c.817-30G>T (n.817-30G>T)
dbSNP
17g.42687691T>CCA2637974399CNTNAP1c.1045-29T>C (n.1045-29T>C)
n.431T>C
c.817-29T>C (n.817-29T>C)
gnomAD v4
17g.42687691T>GCA8581699CNTNAP1c.1045-29T>G (n.1045-29T>G)
n.431T>G
c.817-29T>G (n.817-29T>G)
dbSNP ExAC gnomAD v2
17g.42687691T=CA2260598499CNTNAP1c.1045-29T= (n.1045-29T=)
n.431T=
c.817-29T= (n.817-29T=)
17g.42687693T>CCA983843202CNTNAP1c.1045-27T>C (n.1045-27T>C)
n.433T>C
c.817-27T>C (n.817-27T>C)
dbSNP gnomAD v3 gnomAD v4
17g.42687693T=CA2260598500CNTNAP1c.1045-27T= (n.1045-27T=)
n.433T=
c.817-27T= (n.817-27T=)
17g.42687695G>CCA8581700CNTNAP1c.1045-25G>C (n.1045-25G>C)
n.435G>C
c.817-25G>C (n.817-25G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687695G=CA2260598501CNTNAP1c.1045-25G= (n.1045-25G=)
n.435G=
c.817-25G= (n.817-25G=)
17g.42687697T>CCA8581701CNTNAP1c.1045-23T>C (n.1045-23T>C)
n.437T>C
c.817-23T>C (n.817-23T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687697T=CA2260598502CNTNAP1c.1045-23T= (n.1045-23T=)
n.437T=
c.817-23T= (n.817-23T=)
17g.42687698G>ACA2637974400CNTNAP1c.1045-22G>A (n.1045-22G>A)
n.438G>A
c.817-22G>A (n.817-22G>A)
gnomAD v4
17g.42687699C>TCA2637974401CNTNAP1c.1045-21C>T (n.1045-21C>T)
n.439C>T
c.817-21C>T (n.817-21C>T)
gnomAD v4
17g.42687700G>ACA772117066CNTNAP1c.1045-20G>A (n.1045-20G>A)
n.440G>A
c.817-20G>A (n.817-20G>A)
dbSNP gnomAD v3 gnomAD v4
17g.42687700G=CA2260598503CNTNAP1c.1045-20G= (n.1045-20G=)
n.440G=
c.817-20G= (n.817-20G=)
17g.42687701T>CCA772117068CNTNAP1c.1045-19T>C (n.1045-19T>C)
n.441T>C
c.817-19T>C (n.817-19T>C)
dbSNP gnomAD v4
17g.42687701T=CA2260598504CNTNAP1c.1045-19T= (n.1045-19T=)
n.441T=
c.817-19T= (n.817-19T=)
17g.42687702delCA2594096139CNTNAP1c.1045-18del (n.1045-18del)
n.442del
c.817-18del (n.817-18del)
gnomAD v3 gnomAD v4
17g.42687702C>GCA2733740687CNTNAP1c.1045-18C>G (n.1045-18C>G)
n.442C>G
c.817-18C>G (n.817-18C>G)
dbSNP
17g.42687703T>CCA2809529684CNTNAP1c.1045-17T>C (n.1045-17T>C)
n.443T>C
c.817-17T>C (n.817-17T>C)
17g.42687705C=CA2260598506CNTNAP1c.1045-15C= (n.1045-15C=)
n.445C=
c.817-15C= (n.817-15C=)
17g.42687705C>GCA2260598505CNTNAP1c.1045-15C>G (n.1045-15C>G)
n.445C>G
c.817-15C>G (n.817-15C>G)
dbSNP
17g.42687706A>CCA2637974402CNTNAP1c.1045-14A>C (n.1045-14A>C)
n.446A>C
c.817-14A>C (n.817-14A>C)
gnomAD v4
17g.42687706A>GCA2637974403CNTNAP1c.1045-14A>G (n.1045-14A>G)
n.446A>G
c.817-14A>G (n.817-14A>G)
gnomAD v4
17g.42687707C=CA2260598507CNTNAP1c.1045-13C= (n.1045-13C=)
n.447C=
c.817-13C= (n.817-13C=)
17g.42687707C>TCA8581702CNTNAP1c.1045-13C>T (n.1045-13C>T)
n.447C>T
c.817-13C>T (n.817-13C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687709T>GCA2637974404CNTNAP1c.1045-11T>G (n.1045-11T>G)
n.449T>G
c.817-11T>G (n.817-11T>G)
gnomAD v4
17g.42687710T>CCA772117069CNTNAP1c.1045-10T>C (n.1045-10T>C)
n.450T>C
c.817-10T>C (n.817-10T>C)
dbSNP
17g.42687710T=CA2260598508CNTNAP1c.1045-10T= (n.1045-10T=)
n.450T=
c.817-10T= (n.817-10T=)
17g.42687712G>ACA8581703CNTNAP1c.1045-8G>A (n.1045-8G>A)
n.452G>A
c.817-8G>A (n.817-8G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687712G=CA2260598509CNTNAP1c.1045-8G= (n.1045-8G=)
n.452G=
c.817-8G= (n.817-8G=)
17g.42687712G>TCA2637974405CNTNAP1c.1045-8G>T (n.1045-8G>T)
n.452G>T
c.817-8G>T (n.817-8G>T)
gnomAD v4
17g.42687713C>ACA290793003CNTNAP1c.1045-7C>A (n.1045-7C>A)
n.453C>A
c.817-7C>A (n.817-7C>A)
dbSNP
17g.42687713C=CA2260598510CNTNAP1c.1045-7C= (n.1045-7C=)
n.453C=
c.817-7C= (n.817-7C=)
17g.42687713C>GCA626069150CNTNAP1c.1045-7C>G (n.1045-7C>G)
n.453C>G
c.817-7C>G (n.817-7C>G)
dbSNP gnomAD v2 gnomAD v4
17g.42687713C>TCA2637974407CNTNAP1c.1045-7C>T (n.1045-7C>T)
n.453C>T
c.817-7C>T (n.817-7C>T)
gnomAD v4
17g.42687716dupCA2637974406CNTNAP1c.1045-4dup (n.1045-4dup)
n.456dup
c.817-4dup (n.817-4dup)
gnomAD v4
17g.42687715C>GCA2637974408CNTNAP1c.1045-5C>G (n.1045-5C>G)
n.455C>G
c.817-5C>G (n.817-5C>G)
gnomAD v4
17g.42687716C=CA2260598511CNTNAP1c.1045-4C= (n.1045-4C=)
n.456C=
c.817-4C= (n.817-4C=)
17g.42687716C>TCA2260598512CNTNAP1c.1045-4C>T (n.1045-4C>T)
n.456C>T
c.817-4C>T (n.817-4C>T)
dbSNP
17g.42687717T>CCA8581704CNTNAP1c.1045-3T>C (n.1045-3T>C)
n.457T>C
c.817-3T>C (n.817-3T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687717T=CA2260598513CNTNAP1c.1045-3T= (n.1045-3T=)
n.457T=
c.817-3T= (n.817-3T=)
17g.42687718A>CCA399637508CNTNAP1c.1045-2A>C (n.1045-2A>C)
n.458A>C
c.817-2A>C (n.817-2A>C)
17g.42687718A>GCA399637509CNTNAP1c.1045-2A>G (n.1045-2A>G)
n.458A>G
c.817-2A>G (n.817-2A>G)
17g.42687718A>TCA399637510CNTNAP1c.1045-2A>T (n.1045-2A>T)
n.458A>T
c.817-2A>T (n.817-2A>T)
17g.42687719G>ACA399637511CNTNAP1c.1045-1G>A (n.1045-1G>A)
n.459G>A
c.817-1G>A (n.817-1G>A)
17g.42687719G>CCA399637512CNTNAP1c.1045-1G>C (n.1045-1G>C)
n.459G>C
c.817-1G>C (n.817-1G>C)
17g.42687719G>TCA399637513CNTNAP1c.1045-1G>T (n.1045-1G>T)
n.459G>T
c.817-1G>T (n.817-1G>T)
17g.42687720G>ACA399637515CNTNAP1c.1045G>A (p.Gly349Ser)
n.460G>A
c.817G>A (p.Gly273Ser)
dbSNP
17g.42687720G>CCA399637517CNTNAP1c.1045G>C (p.Gly349Arg)
n.460G>C
c.817G>C (p.Gly273Arg)
17g.42687720G=CA2260598514CNTNAP1c.1045G= (p.Gly349=)
n.460G=
c.817G= (p.Gly273=)
17g.42687720G>TCA399637518CNTNAP1c.1045G>T (p.Gly349Cys)
n.460G>T
c.817G>T (p.Gly273Cys)
17g.42687721G>ACA399637519CNTNAP1c.1046G>A (p.Gly349Asp)
n.461G>A
c.818G>A (p.Gly273Asp)
dbSNP
17g.42687721G>CCA399637520CNTNAP1c.1046G>C (p.Gly349Ala)
n.461G>C
c.818G>C (p.Gly273Ala)
17g.42687721G=CA2260598515CNTNAP1c.1046G= (p.Gly349=)
n.461G=
c.818G= (p.Gly273=)
17g.42687721G>TCA399637522CNTNAP1c.1046G>T (p.Gly349Val)
n.461G>T
c.818G>T (p.Gly273Val)
ClinVar dbSNP
17g.42687722T>ACA500091175CNTNAP1c.1047T>A (p.Gly349=)
n.462T>A
c.819T>A (p.Gly273=)
17g.42687722T>CCA500091174CNTNAP1c.1047T>C (p.Gly349=)
n.462T>C
c.819T>C (p.Gly273=)
gnomAD v4
17g.42687722T>GCA500091176CNTNAP1c.1047T>G (p.Gly349=)
n.462T>G
c.819T>G (p.Gly273=)
17g.42687723A>CCA399637524CNTNAP1c.1048A>C (p.Lys350Gln)
n.463A>C
c.820A>C (p.Lys274Gln)
17g.42687723A>GCA399637527CNTNAP1c.1048A>G (p.Lys350Glu)
n.463A>G
c.820A>G (p.Lys274Glu)
17g.42687723A>TCA399637525CNTNAP1c.1048A>T (p.Lys350Ter)
n.463A>T
c.820A>T (p.Lys274Ter)
17g.42687724A>CCA399637529CNTNAP1c.1049A>C (p.Lys350Thr)
n.464A>C
c.821A>C (p.Lys274Thr)
17g.42687724A>GCA399637530CNTNAP1c.1049A>G (p.Lys350Arg)
n.464A>G
c.821A>G (p.Lys274Arg)
17g.42687724A>TCA399637532CNTNAP1c.1049A>T (p.Lys350Met)
n.464A>T
c.821A>T (p.Lys274Met)
17g.42687725G>ACA500091177CNTNAP1c.1050G>A (p.Lys350=)
n.465G>A
c.822G>A (p.Lys274=)
17g.42687725G>CCA399637534CNTNAP1c.1050G>C (p.Lys350Asn)
n.465G>C
c.822G>C (p.Lys274Asn)
17g.42687725G>TCA399637536CNTNAP1c.1050G>T (p.Lys350Asn)
n.465G>T
c.822G>T (p.Lys274Asn)
17g.42687726G>ACA399637538CNTNAP1c.1051G>A (p.Val351Met)
n.466G>A
c.823G>A (p.Val275Met)
gnomAD v4
17g.42687726G>CCA399637539CNTNAP1c.1051G>C (p.Val351Leu)
n.466G>C
c.823G>C (p.Val275Leu)
17g.42687726G>TCA399637541CNTNAP1c.1051G>T (p.Val351Leu)
n.466G>T
c.823G>T (p.Val275Leu)
gnomAD v4
17g.42687727T>ACA399637543CNTNAP1c.1052T>A (p.Val351Glu)
n.467T>A
c.824T>A (p.Val275Glu)
17g.42687727T>CCA399637545CNTNAP1c.1052T>C (p.Val351Ala)
n.467T>C
c.824T>C (p.Val275Ala)
dbSNP gnomAD v4
17g.42687727T>GCA399637546CNTNAP1c.1052T>G (p.Val351Gly)
n.467T>G
c.824T>G (p.Val275Gly)
17g.42687727T=CA2260598516CNTNAP1c.1052T= (p.Val351=)
n.467T=
c.824T= (p.Val275=)
17g.42687728G>ACA500091180CNTNAP1c.1053G>A (p.Val351=)
n.468G>A
c.825G>A (p.Val275=)
17g.42687728G>CCA500091178CNTNAP1c.1053G>C (p.Val351=)
n.468G>C
c.825G>C (p.Val275=)
17g.42687728G>TCA500091179CNTNAP1c.1053G>T (p.Val351=)
n.468G>T
c.825G>T (p.Val275=)
17g.42687729G>ACA399637551CNTNAP1c.1054G>A (p.Ala352Thr)
n.469G>A
c.826G>A (p.Ala276Thr)
gnomAD v4
17g.42687729G>CCA399637550CNTNAP1c.1054G>C (p.Ala352Pro)
n.469G>C
c.826G>C (p.Ala276Pro)
17g.42687729G>TCA399637549CNTNAP1c.1054G>T (p.Ala352Ser)
n.469G>T
c.826G>T (p.Ala276Ser)
17g.42687730C>ACA399637556CNTNAP1c.1055C>A (p.Ala352Asp)
n.470C>A
c.827C>A (p.Ala276Asp)
17g.42687730C>GCA399637552CNTNAP1c.1055C>G (p.Ala352Gly)
n.470C>G
c.827C>G (p.Ala276Gly)
dbSNP
17g.42687730C>TCA399637554CNTNAP1c.1055C>T (p.Ala352Val)
n.470C>T
c.827C>T (p.Ala276Val)
17g.42687731T>ACA500091182CNTNAP1c.1056T>A (p.Ala352=)
n.471T>A
c.828T>A (p.Ala276=)
17g.42687731T>CCA500091183CNTNAP1c.1056T>C (p.Ala352=)
n.471T>C
c.828T>C (p.Ala276=)
17g.42687731T>GCA500091181CNTNAP1c.1056T>G (p.Ala352=)
n.471T>G
c.828T>G (p.Ala276=)
17g.42687732T>ACA399637558CNTNAP1c.1057T>A (p.Phe353Ile)
n.472T>A
c.829T>A (p.Phe277Ile)
17g.42687732T>CCA399637559CNTNAP1c.1057T>C (p.Phe353Leu)
n.472T>C
c.829T>C (p.Phe277Leu)
17g.42687732T>GCA399637561CNTNAP1c.1057T>G (p.Phe353Val)
n.472T>G
c.829T>G (p.Phe277Val)
gnomAD v4
17g.42687733T>ACA399637563CNTNAP1c.1058T>A (p.Phe353Tyr)
n.473T>A
c.830T>A (p.Phe277Tyr)
17g.42687733T>CCA399637565CNTNAP1c.1058T>C (p.Phe353Ser)
n.473T>C
c.830T>C (p.Phe277Ser)
17g.42687733T>GCA399637567CNTNAP1c.1058T>G (p.Phe353Cys)
n.473T>G
c.830T>G (p.Phe277Cys)
17g.42687734T>ACA399637568CNTNAP1c.1059T>A (p.Phe353Leu)
n.474T>A
c.831T>A (p.Phe277Leu)
17g.42687734T>CCA500091184CNTNAP1c.1059T>C (p.Phe353=)
n.474T>C
c.831T>C (p.Phe277=)
dbSNP gnomAD v2 gnomAD v4
17g.42687734T>GCA399637569CNTNAP1c.1059T>G (p.Phe353Leu)
n.474T>G
c.831T>G (p.Phe277Leu)
17g.42687734T=CA2260598517CNTNAP1c.1059T= (p.Phe353=)
n.474T=
c.831T= (p.Phe277=)
17g.42687735C>ACA399637571CNTNAP1c.1060C>A (p.Arg354Ser)
n.475C>A
c.832C>A (p.Arg278Ser)
17g.42687735C>GCA399637573CNTNAP1c.1060C>G (p.Arg354Gly)
n.475C>G
c.832C>G (p.Arg278Gly)
17g.42687735C>TCA399637574CNTNAP1c.1060C>T (p.Arg354Cys)
n.475C>T
c.832C>T (p.Arg278Cys)
dbSNP COSMIC
17g.42687736G>ACA399637579CNTNAP1c.1061G>A (p.Arg354His)
n.476G>A
c.833G>A (p.Arg278His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42687736G>CCA399637576CNTNAP1c.1061G>C (p.Arg354Pro)
n.476G>C
c.833G>C (p.Arg278Pro)
dbSNP
17g.42687736G=CA2260598518CNTNAP1c.1061G= (p.Arg354=)
n.476G=
c.833G= (p.Arg278=)
17g.42687736G>TCA399637577CNTNAP1c.1061G>T (p.Arg354Leu)
n.476G>T
c.833G>T (p.Arg278Leu)
17g.42687737T>ACA500091185CNTNAP1c.1062T>A (p.Arg354=)
n.477T>A
c.834T>A (p.Arg278=)
17g.42687737T>CCA500091186CNTNAP1c.1062T>C (p.Arg354=)
n.477T>C
c.834T>C (p.Arg278=)
17g.42687737T>GCA500091187CNTNAP1c.1062T>G (p.Arg354=)
n.477T>G
c.834T>G (p.Arg278=)
17g.42687738T>ACA399637582CNTNAP1c.1063T>A (p.Cys355Ser)
n.478T>A
c.835T>A (p.Cys279Ser)
17g.42687738T>CCA399637583CNTNAP1c.1063T>C (p.Cys355Arg)
n.478T>C
c.835T>C (p.Cys279Arg)
17g.42687738T>GCA399637585CNTNAP1c.1063T>G (p.Cys355Gly)
n.478T>G
c.835T>G (p.Cys279Gly)
17g.42687739G>ACA399637587CNTNAP1c.1064G>A (p.Cys355Tyr)
n.479G>A
c.836G>A (p.Cys279Tyr)
17g.42687739G>CCA399637588CNTNAP1c.1064G>C (p.Cys355Ser)
n.479G>C
c.836G>C (p.Cys279Ser)
17g.42687739G>TCA399637590CNTNAP1c.1064G>T (p.Cys355Phe)
n.479G>T
c.836G>T (p.Cys279Phe)
gnomAD v4
17g.42687740C>ACA399637592CNTNAP1c.1065C>A (p.Cys355Ter)
n.480C>A
c.837C>A (p.Cys279Ter)
17g.42687740C=CA2260598519CNTNAP1c.1065C= (p.Cys355=)
n.480C=
c.837C= (p.Cys279=)
17g.42687740C>GCA399637594CNTNAP1c.1065C>G (p.Cys355Trp)
n.480C>G
c.837C>G (p.Cys279Trp)
17g.42687740C>TCA500091188CNTNAP1c.1065C>T (p.Cys355=)
n.480C>T
c.837C>T (p.Cys279=)
dbSNP gnomAD v2 gnomAD v4
17g.42687741C>ACA399637595CNTNAP1c.1066C>A (p.Leu356Met)
n.481C>A
c.838C>A (p.Leu280Met)
17g.42687741C=CA2260598520CNTNAP1c.1066C= (p.Leu356=)
n.481C=
c.838C= (p.Leu280=)
17g.42687741C>GCA290793005CNTNAP1c.1066C>G (p.Leu356Val)
n.481C>G
c.838C>G (p.Leu280Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42687741C>TCA500091189CNTNAP1c.1066C>T (p.Leu356=)
n.481C>T
c.838C>T (p.Leu280=)
dbSNP
17g.42687742T>ACA399637598CNTNAP1c.1067T>A (p.Leu356Gln)
n.482T>A
c.839T>A (p.Leu280Gln)
17g.42687742T>CCA399637600CNTNAP1c.1067T>C (p.Leu356Pro)
n.482T>C
c.839T>C (p.Leu280Pro)
17g.42687742T>GCA399637601CNTNAP1c.1067T>G (p.Leu356Arg)
n.482T>G
c.839T>G (p.Leu280Arg)
17g.42687743G>ACA500091191CNTNAP1c.1068G>A (p.Leu356=)
n.483G>A
c.840G>A (p.Leu280=)
17g.42687743G>CCA500091192CNTNAP1c.1068G>C (p.Leu356=)
n.483G>C
c.840G>C (p.Leu280=)
17g.42687743G>TCA500091190CNTNAP1c.1068G>T (p.Leu356=)
n.483G>T
c.840G>T (p.Leu280=)
17g.42687744G>ACA399637605CNTNAP1c.1069G>A (p.Asp357Asn)
n.484G>A
c.841G>A (p.Asp281Asn)
17g.42687744G>CCA399637607CNTNAP1c.1069G>C (p.Asp357His)
n.484G>C
c.841G>C (p.Asp281His)
17g.42687744G>TCA399637604CNTNAP1c.1069G>T (p.Asp357Tyr)
n.484G>T
c.841G>T (p.Asp281Tyr)
17g.42687745A=CA2260598521CNTNAP1c.1070A= (p.Asp357=)
n.485A=
c.842A= (p.Asp281=)
17g.42687745A>CCA399637609CNTNAP1c.1070A>C (p.Asp357Ala)
n.485A>C
c.842A>C (p.Asp281Ala)
dbSNP gnomAD v2 gnomAD v4
17g.42687745A>GCA399637612CNTNAP1c.1070A>G (p.Asp357Gly)
n.485A>G
c.842A>G (p.Asp281Gly)
dbSNP
17g.42687745A>TCA399637611CNTNAP1c.1070A>T (p.Asp357Val)
n.485A>T
c.842A>T (p.Asp281Val)
dbSNP
17g.42687746C>ACA399637614CNTNAP1c.1071C>A (p.Asp357Glu)
n.486C>A
c.843C>A (p.Asp281Glu)
gnomAD v4
17g.42687746C=CA2260598522CNTNAP1c.1071C= (p.Asp357=)
n.486C=
c.843C= (p.Asp281=)
17g.42687746C>GCA399637616CNTNAP1c.1071C>G (p.Asp357Glu)
n.486C>G
c.843C>G (p.Asp281Glu)
17g.42687746C>TCA500091193CNTNAP1c.1071C>T (p.Asp357=)
n.486C>T
c.843C>T (p.Asp281=)
dbSNP
17g.42687749_42687778dupCA2637974409CNTNAP1c.1074_1103dup (p.Pro368_His369insValProHisProIleAsnPheGlyGlyPro)
n.489_518dup
c.846_875dup (p.Pro292_His293insValProHisProIleAsnPheGlyGlyPro)
gnomAD v4
17g.42687747C>ACA399637618CNTNAP1c.1072C>A (p.Pro358Thr)
n.487C>A
c.844C>A (p.Pro282Thr)
17g.42687747C>GCA399637620CNTNAP1c.1072C>G (p.Pro358Ala)
n.487C>G
c.844C>G (p.Pro282Ala)
17g.42687747C>TCA399637622CNTNAP1c.1072C>T (p.Pro358Ser)
n.487C>T
c.844C>T (p.Pro282Ser)
17g.42687748C>ACA399637624CNTNAP1c.1073C>A (p.Pro358Gln)
n.488C>A
c.845C>A (p.Pro282Gln)
17g.42687748C>GCA399637626CNTNAP1c.1073C>G (p.Pro358Arg)
n.488C>G
c.845C>G (p.Pro282Arg)
17g.42687748C>TCA399637627CNTNAP1c.1073C>T (p.Pro358Leu)
n.488C>T
c.845C>T (p.Pro282Leu)
17g.42687749G>ACA500091194CNTNAP1c.1074G>A (p.Pro358=)
n.489G>A
c.846G>A (p.Pro282=)
COSMIC
17g.42687749G>CCA500091195CNTNAP1c.1074G>C (p.Pro358=)
n.489G>C
c.846G>C (p.Pro282=)
17g.42687749G=CA2260598523CNTNAP1c.1074G= (p.Pro358=)
n.489G=
c.846G= (p.Pro282=)
17g.42687749G>TCA8581705CNTNAP1c.1074G>T (p.Pro358=)
n.489G>T
c.846G>T (p.Pro282=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687750G>ACA399637631CNTNAP1c.1075G>A (p.Val359Ile)
n.490G>A
c.847G>A (p.Val283Ile)
dbSNP
17g.42687750G>CCA399637632CNTNAP1c.1075G>C (p.Val359Leu)
n.490G>C
c.847G>C (p.Val283Leu)
17g.42687750G>TCA399637634CNTNAP1c.1075G>T (p.Val359Leu)
n.490G>T
c.847G>T (p.Val283Leu)
17g.42687751T>ACA399637636CNTNAP1c.1076T>A (p.Val359Glu)
n.491T>A
c.848T>A (p.Val283Glu)
17g.42687751T>CCA399637640CNTNAP1c.1076T>C (p.Val359Ala)
n.491T>C
c.848T>C (p.Val283Ala)
17g.42687751T>GCA399637637CNTNAP1c.1076T>G (p.Val359Gly)
n.491T>G
c.848T>G (p.Val283Gly)
dbSNP
17g.42687751T=CA2260598524CNTNAP1c.1076T= (p.Val359=)
n.491T=
c.848T= (p.Val283=)
17g.42687752A>CCA500091198CNTNAP1c.1077A>C (p.Val359=)
n.492A>C
c.849A>C (p.Val283=)
17g.42687752A>GCA500091196CNTNAP1c.1077A>G (p.Val359=)
n.492A>G
c.849A>G (p.Val283=)
17g.42687752A>TCA500091197CNTNAP1c.1077A>T (p.Val359=)
n.492A>T
c.849A>T (p.Val283=)
17g.42687753C>ACA399637642CNTNAP1c.1078C>A (p.Pro360Thr)
n.493C>A
c.850C>A (p.Pro284Thr)
17g.42687753C>GCA399637643CNTNAP1c.1078C>G (p.Pro360Ala)
n.493C>G
c.850C>G (p.Pro284Ala)
17g.42687753C>TCA399637645CNTNAP1c.1078C>T (p.Pro360Ser)
n.493C>T
c.850C>T (p.Pro284Ser)
17g.42687754C>ACA8581706CNTNAP1c.1079C>A (p.Pro360Gln)
n.494C>A
c.851C>A (p.Pro284Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687754C=CA2260598525CNTNAP1c.1079C= (p.Pro360=)
n.494C=
c.851C= (p.Pro284=)
17g.42687754C>GCA399637648CNTNAP1c.1079C>G (p.Pro360Arg)
n.494C>G
c.851C>G (p.Pro284Arg)
dbSNP
17g.42687754C>TCA8581707CNTNAP1c.1079C>T (p.Pro360Leu)
n.494C>T
c.851C>T (p.Pro284Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687755G>ACA500091200CNTNAP1c.1080G>A (p.Pro360=)
n.495G>A
c.852G>A (p.Pro284=)
dbSNP COSMIC
17g.42687755G>CCA500091201CNTNAP1c.1080G>C (p.Pro360=)
n.495G>C
c.852G>C (p.Pro284=)
17g.42687755G>TCA500091199CNTNAP1c.1080G>T (p.Pro360=)
n.495G>T
c.852G>T (p.Pro284=)
17g.42687756C>ACA399637652CNTNAP1c.1081C>A (p.His361Asn)
n.496C>A
c.853C>A (p.His285Asn)
17g.42687756C=CA2260598526CNTNAP1c.1081C= (p.His361=)
n.496C=
c.853C= (p.His285=)
17g.42687756C>GCA399637653CNTNAP1c.1081C>G (p.His361Asp)
n.496C>G
c.853C>G (p.His285Asp)
COSMIC
17g.42687756C>TCA8581708CNTNAP1c.1081C>T (p.His361Tyr)
n.496C>T
c.853C>T (p.His285Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687757A>CCA399637658CNTNAP1c.1082A>C (p.His361Pro)
n.497A>C
c.854A>C (p.His285Pro)
dbSNP
17g.42687757A>GCA399637660CNTNAP1c.1082A>G (p.His361Arg)
n.497A>G
c.854A>G (p.His285Arg)
17g.42687757A>TCA399637656CNTNAP1c.1082A>T (p.His361Leu)
n.497A>T
c.854A>T (p.His285Leu)
17g.42687758C>ACA399637661CNTNAP1c.1083C>A (p.His361Gln)
n.498C>A
c.855C>A (p.His285Gln)
17g.42687758C>GCA399637663CNTNAP1c.1083C>G (p.His361Gln)
n.498C>G
c.855C>G (p.His285Gln)
17g.42687758C>TCA500091202CNTNAP1c.1083C>T (p.His361=)
n.498C>T
c.855C>T (p.His285=)
dbSNP gnomAD v4
17g.42687759C>ACA399637665CNTNAP1c.1084C>A (p.Pro362Thr)
n.499C>A
c.856C>A (p.Pro286Thr)
17g.42687759C=CA2260598527CNTNAP1c.1084C= (p.Pro362=)
n.499C=
c.856C= (p.Pro286=)
17g.42687759C>GCA399637667CNTNAP1c.1084C>G (p.Pro362Ala)
n.499C>G
c.856C>G (p.Pro286Ala)
dbSNP gnomAD v3 gnomAD v4
17g.42687759C>TCA399637668CNTNAP1c.1084C>T (p.Pro362Ser)
n.499C>T
c.856C>T (p.Pro286Ser)
gnomAD v4 COSMIC
17g.42687760C>ACA399637670CNTNAP1c.1085C>A (p.Pro362His)
n.500C>A
c.857C>A (p.Pro286His)
17g.42687760C=CA2260598528CNTNAP1c.1085C= (p.Pro362=)
n.500C=
c.857C= (p.Pro286=)
17g.42687760C>GCA399637672CNTNAP1c.1085C>G (p.Pro362Arg)
n.500C>G
c.857C>G (p.Pro286Arg)
17g.42687760C>TCA8581709CNTNAP1c.1085C>T (p.Pro362Leu)
n.500C>T
c.857C>T (p.Pro286Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687761delCA2637974410CNTNAP1c.1086del (p.Ile363SerfsTer?)
n.501del
c.858del (p.Ile287SerfsTer?)
gnomAD v4
17g.42687761T>ACA500091203CNTNAP1c.1086T>A (p.Pro362=)
n.501T>A
c.858T>A (p.Pro286=)
17g.42687761T>CCA500091204CNTNAP1c.1086T>C (p.Pro362=)
n.501T>C
c.858T>C (p.Pro286=)
17g.42687761T>GCA500091205CNTNAP1c.1086T>G (p.Pro362=)
n.501T>G
c.858T>G (p.Pro286=)
17g.42687762A=CA2260598529CNTNAP1c.1087A= (p.Ile363=)
n.502A=
c.859A= (p.Ile287=)
17g.42687762A>CCA399637675CNTNAP1c.1087A>C (p.Ile363Leu)
n.502A>C
c.859A>C (p.Ile287Leu)
17g.42687762A>GCA399637677CNTNAP1c.1087A>G (p.Ile363Val)
n.502A>G
c.859A>G (p.Ile287Val)
ClinVar dbSNP gnomAD v4
17g.42687762A>TCA399637678CNTNAP1c.1087A>T (p.Ile363Phe)
n.502A>T
c.859A>T (p.Ile287Phe)
17g.42687763T>ACA399637680CNTNAP1c.1088T>A (p.Ile363Asn)
n.503T>A
c.860T>A (p.Ile287Asn)
17g.42687763T>CCA399637682CNTNAP1c.1088T>C (p.Ile363Thr)
n.503T>C
c.860T>C (p.Ile287Thr)
17g.42687763T>GCA399637684CNTNAP1c.1088T>G (p.Ile363Ser)
n.503T>G
c.860T>G (p.Ile287Ser)
ClinVar gnomAD v4
17g.42687764C>ACA500091207CNTNAP1c.1089C>A (p.Ile363=)
n.504C>A
c.861C>A (p.Ile287=)
17g.42687764C>GCA399637685CNTNAP1c.1089C>G (p.Ile363Met)
n.504C>G
c.861C>G (p.Ile287Met)
gnomAD v4
17g.42687764C>TCA500091206CNTNAP1c.1089C>T (p.Ile363=)
n.504C>T
c.861C>T (p.Ile287=)
17g.42687765A>CCA399637687CNTNAP1c.1090A>C (p.Asn364His)
n.505A>C
c.862A>C (p.Asn288His)
17g.42687765A>GCA399637688CNTNAP1c.1090A>G (p.Asn364Asp)
n.505A>G
c.862A>G (p.Asn288Asp)
17g.42687765A>TCA399637690CNTNAP1c.1090A>T (p.Asn364Tyr)
n.505A>T
c.862A>T (p.Asn288Tyr)
17g.42687766A>CCA399637692CNTNAP1c.1091A>C (p.Asn364Thr)
n.506A>C
c.863A>C (p.Asn288Thr)
gnomAD v4
17g.42687766A>GCA399637693CNTNAP1c.1091A>G (p.Asn364Ser)
n.506A>G
c.863A>G (p.Asn288Ser)
17g.42687766A>TCA399637695CNTNAP1c.1091A>T (p.Asn364Ile)
n.506A>T
c.863A>T (p.Asn288Ile)
17g.42687767C>ACA399637697CNTNAP1c.1092C>A (p.Asn364Lys)
n.507C>A
c.864C>A (p.Asn288Lys)
17g.42687767C>GCA399637699CNTNAP1c.1092C>G (p.Asn364Lys)
n.507C>G
c.864C>G (p.Asn288Lys)
17g.42687767C>TCA500091208CNTNAP1c.1092C>T (p.Asn364=)
n.507C>T
c.864C>T (p.Asn288=)
17g.42687768T>ACA399637701CNTNAP1c.1093T>A (p.Phe365Ile)
n.508T>A
c.865T>A (p.Phe289Ile)
17g.42687768T>CCA399637702CNTNAP1c.1093T>C (p.Phe365Leu)
n.508T>C
c.865T>C (p.Phe289Leu)
dbSNP gnomAD v3 gnomAD v4
17g.42687768T>GCA399637704CNTNAP1c.1093T>G (p.Phe365Val)
n.508T>G
c.865T>G (p.Phe289Val)
17g.42687768T=CA2260598530CNTNAP1c.1093T= (p.Phe365=)
n.508T=
c.865T= (p.Phe289=)
17g.42687769T>ACA399637706CNTNAP1c.1094T>A (p.Phe365Tyr)
n.509T>A
c.866T>A (p.Phe289Tyr)
17g.42687769T>CCA399637707CNTNAP1c.1094T>C (p.Phe365Ser)
n.509T>C
c.866T>C (p.Phe289Ser)
17g.42687769T>GCA399637709CNTNAP1c.1094T>G (p.Phe365Cys)
n.509T>G
c.866T>G (p.Phe289Cys)
17g.42687770C>ACA399637712CNTNAP1c.1095C>A (p.Phe365Leu)
n.510C>A
c.867C>A (p.Phe289Leu)
17g.42687770C>GCA399637711CNTNAP1c.1095C>G (p.Phe365Leu)
n.510C>G
c.867C>G (p.Phe289Leu)
gnomAD v4
17g.42687770C>TCA500091209CNTNAP1c.1095C>T (p.Phe365=)
n.510C>T
c.867C>T (p.Phe289=)
gnomAD v4 COSMIC
17g.42687771G>ACA399637714CNTNAP1c.1096G>A (p.Gly366Arg)
n.511G>A
c.868G>A (p.Gly290Arg)
dbSNP COSMIC
17g.42687771G>CCA399637718CNTNAP1c.1096G>C (p.Gly366Arg)
n.511G>C
c.868G>C (p.Gly290Arg)
17g.42687771G>TCA399637716CNTNAP1c.1096G>T (p.Gly366Ter)
n.511G>T
c.868G>T (p.Gly290Ter)
17g.42687772G>ACA399637720CNTNAP1c.1097G>A (p.Gly366Glu)
n.512G>A
c.869G>A (p.Gly290Glu)
17g.42687772G>CCA399637724CNTNAP1c.1097G>C (p.Gly366Ala)
n.512G>C
c.869G>C (p.Gly290Ala)
17g.42687772G>TCA399637722CNTNAP1c.1097G>T (p.Gly366Val)
n.512G>T
c.869G>T (p.Gly290Val)
17g.42687773A=CA2260598531CNTNAP1c.1098A= (p.Gly366=)
n.513A=
c.870A= (p.Gly290=)
17g.42687773A>CCA500091210CNTNAP1c.1098A>C (p.Gly366=)
n.513A>C
c.870A>C (p.Gly290=)
17g.42687773A>GCA500091211CNTNAP1c.1098A>G (p.Gly366=)
n.513A>G
c.870A>G (p.Gly290=)
dbSNP gnomAD v4
17g.42687773A>TCA8581710CNTNAP1c.1098A>T (p.Gly366=)
n.513A>T
c.870A>T (p.Gly290=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687774G>ACA399637729CNTNAP1c.1099G>A (p.Gly367Ser)
n.514G>A
c.871G>A (p.Gly291Ser)
dbSNP
17g.42687774G>CCA399637727CNTNAP1c.1099G>C (p.Gly367Arg)
n.514G>C
c.871G>C (p.Gly291Arg)
17g.42687774G>TCA399637730CNTNAP1c.1099G>T (p.Gly367Cys)
n.514G>T
c.871G>T (p.Gly291Cys)
COSMIC
17g.42687774_42687775dupCA645574060CNTNAP1c.1099_1100dup (p.Pro368AlafsTer?)
n.514_515dup
c.871_872dup (p.Pro292AlafsTer?)
COSMIC
17g.42687775G>ACA399637731CNTNAP1c.1100G>A (p.Gly367Asp)
n.515G>A
c.872G>A (p.Gly291Asp)
ClinVar dbSNP gnomAD v4
17g.42687775G>CCA399637733CNTNAP1c.1100G>C (p.Gly367Ala)
n.515G>C
c.872G>C (p.Gly291Ala)
17g.42687775G>TCA399637732CNTNAP1c.1100G>T (p.Gly367Val)
n.515G>T
c.872G>T (p.Gly291Val)
17g.42687776C>ACA500091212CNTNAP1c.1101C>A (p.Gly367=)
n.516C>A
c.873C>A (p.Gly291=)
17g.42687776C>GCA500091213CNTNAP1c.1101C>G (p.Gly367=)
n.516C>G
c.873C>G (p.Gly291=)
17g.42687776C>TCA500091214CNTNAP1c.1101C>T (p.Gly367=)
n.516C>T
c.873C>T (p.Gly291=)
dbSNP
17g.42687777C>ACA399637734CNTNAP1c.1102C>A (p.Pro368Thr)
n.517C>A
c.874C>A (p.Pro292Thr)
17g.42687777C=CA2260598532CNTNAP1c.1102C= (p.Pro368=)
n.517C=
c.874C= (p.Pro292=)
17g.42687777C>GCA399637735CNTNAP1c.1102C>G (p.Pro368Ala)
n.517C>G
c.874C>G (p.Pro292Ala)
17g.42687777C>TCA8581711CNTNAP1c.1102C>T (p.Pro368Ser)
n.517C>T
c.874C>T (p.Pro292Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687778C>ACA399637736CNTNAP1c.1103C>A (p.Pro368His)
n.518C>A
c.875C>A (p.Pro292His)
17g.42687778C>GCA399637737CNTNAP1c.1103C>G (p.Pro368Arg)
n.518C>G
c.875C>G (p.Pro292Arg)
17g.42687778C>TCA399637738CNTNAP1c.1103C>T (p.Pro368Leu)
n.518C>T
c.875C>T (p.Pro292Leu)
gnomAD v4 COSMIC
17g.42687779T>ACA500091216CNTNAP1c.1104T>A (p.Pro368=)
n.519T>A
c.876T>A (p.Pro292=)
dbSNP
17g.42687779T>CCA500091217CNTNAP1c.1104T>C (p.Pro368=)
n.519T>C
c.876T>C (p.Pro292=)
gnomAD v4
17g.42687779T>GCA500091215CNTNAP1c.1104T>G (p.Pro368=)
n.519T>G
c.876T>G (p.Pro292=)
17g.42687780C>ACA399637739CNTNAP1c.1105C>A (p.His369Asn)
n.520C>A
c.877C>A (p.His293Asn)
17g.42687780C=CA2260598533CNTNAP1c.1105C= (p.His369=)
n.520C=
c.877C= (p.His293=)
17g.42687780C>GCA399637740CNTNAP1c.1105C>G (p.His369Asp)
n.520C>G
c.877C>G (p.His293Asp)
17g.42687780C>TCA8581712CNTNAP1c.1105C>T (p.His369Tyr)
n.520C>T
c.877C>T (p.His293Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42687781A>CCA399637742CNTNAP1c.1106A>C (p.His369Pro)
n.521A>C
c.878A>C (p.His293Pro)
dbSNP
17g.42687781A>GCA399637743CNTNAP1c.1106A>G (p.His369Arg)
n.521A>G
c.878A>G (p.His293Arg)
17g.42687781A>TCA399637744CNTNAP1c.1106A>T (p.His369Leu)
n.521A>T
c.878A>T (p.His293Leu)
17g.42687782C>ACA399637746CNTNAP1c.1107C>A (p.His369Gln)
n.522C>A
c.879C>A (p.His293Gln)
17g.42687782C=CA2260598534CNTNAP1c.1107C= (p.His369=)
n.522C=
c.879C= (p.His293=)
17g.42687782C>GCA399637745CNTNAP1c.1107C>G (p.His369Gln)
n.522C>G
c.879C>G (p.His293Gln)
dbSNP gnomAD v4
17g.42687782C>TCA500091218CNTNAP1c.1107C>T (p.His369=)
n.522C>T
c.879C>T (p.His293=)
17g.42687783A=CA2260598535CNTNAP1c.1108A= (p.Asn370=)
n.523A=
c.880A= (p.Asn294=)
17g.42687783A>CCA399637747CNTNAP1c.1108A>C (p.Asn370His)
n.523A>C
c.880A>C (p.Asn294His)
17g.42687783A>GCA8581713CNTNAP1c.1108A>G (p.Asn370Asp)
n.523A>G
c.880A>G (p.Asn294Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42687783A>TCA399637748CNTNAP1c.1108A>T (p.Asn370Tyr)
n.523A>T
c.880A>T (p.Asn294Tyr)
17g.42687784A>CCA399637749CNTNAP1c.1109A>C (p.Asn370Thr)
n.524A>C
c.881A>C (p.Asn294Thr)
17g.42687784A>GCA399637750CNTNAP1c.1109A>G (p.Asn370Ser)
n.524A>G
c.881A>G (p.Asn294Ser)
17g.42687784A>TCA399637751CNTNAP1c.1109A>T (p.Asn370Ile)
n.524A>T
c.881A>T (p.Asn294Ile)
17g.42687785C>ACA399637752CNTNAP1c.1110C>A (p.Asn370Lys)
n.525C>A
c.882C>A (p.Asn294Lys)
17g.42687785C>GCA399637753CNTNAP1c.1110C>G (p.Asn370Lys)
n.525C>G
c.882C>G (p.Asn294Lys)
17g.42687785C>TCA500091219CNTNAP1c.1110C>T (p.Asn370=)
n.525C>T
c.882C>T (p.Asn294=)
17g.42687786T>ACA399637754CNTNAP1c.1111T>A (p.Phe371Ile)
n.526T>A
c.883T>A (p.Phe295Ile)
17g.42687786T>CCA290793037CNTNAP1c.1111T>C (p.Phe371Leu)
n.526T>C
c.883T>C (p.Phe295Leu)
dbSNP
17g.42687786T>GCA399637755CNTNAP1c.1111T>G (p.Phe371Val)
n.526T>G
c.883T>G (p.Phe295Val)
17g.42687786T=CA2260598536CNTNAP1c.1111T= (p.Phe371=)
n.526T=
c.883T= (p.Phe295=)

Number of alleles fetched