Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
17 | g.42687686A>C | CA2576278110 | CNTNAP1 | c.1045-34A>C (n.1045-34A>C) n.426A>C c.817-34A>C (n.817-34A>C) | gnomAD v4 |
17 | g.42687687C= | CA2260598492 | CNTNAP1 | c.1045-33C= (n.1045-33C=) n.427C= c.817-33C= (n.817-33C=) | |
17 | g.42687687C>G | CA2841386970 | CNTNAP1 | c.1045-33C>G (n.1045-33C>G) n.427C>G c.817-33C>G (n.817-33C>G) | |
17 | g.42687687C>T | CA8581696 | CNTNAP1 | c.1045-33C>T (n.1045-33C>T) n.427C>T c.817-33C>T (n.817-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687687_42687688insT | CA2637974396 | CNTNAP1 | c.1045-33_1045-32insT (n.1045-33_1045-32insT) n.427_428insT c.817-33_817-32insT (n.817-33_817-32insT) | gnomAD v4 |
17 | g.42687687_42687688insTGAATTCCCAGCTG | CA2260598493 | CNTNAP1 | c.1045-33_1045-32insTGAATTCCCAGCTG (n.1045-33_1045-32insTGAATTCCCAGCTG) n.427_428insTGAATTCCCAGCTG c.817-33_817-32insTGAATTCCCAGCTG (n.817-33_817-32insTGAATTCCCAGCTG) | dbSNP |
17 | g.42687688G>A | CA2260598495 | CNTNAP1 | c.1045-32G>A (n.1045-32G>A) n.428G>A c.817-32G>A (n.817-32G>A) | dbSNP gnomAD v4 |
17 | g.42687688G>C | CA2637974397 | CNTNAP1 | c.1045-32G>C (n.1045-32G>C) n.428G>C c.817-32G>C (n.817-32G>C) | dbSNP gnomAD v4 |
17 | g.42687688G= | CA2260598494 | CNTNAP1 | c.1045-32G= (n.1045-32G=) n.428G= c.817-32G= (n.817-32G=) | |
17 | g.42687688_42687689insAATTCCCAGCTGA | CA2637974398 | CNTNAP1 | c.1045-32_1045-31insAATTCCCAGCTGA (n.1045-32_1045-31insAATTCCCAGCTGA) n.428_429insAATTCCCAGCTGA c.817-32_817-31insAATTCCCAGCTGA (n.817-32_817-31insAATTCCCAGCTGA) | gnomAD v4 |
17 | g.42687689G>A | CA983843198 | CNTNAP1 | c.1045-31G>A (n.1045-31G>A) n.429G>A c.817-31G>A (n.817-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687689G>C | CA8581697 | CNTNAP1 | c.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 |
17 | g.42687689G= | CA2260598496 | CNTNAP1 | c.1045-31G= (n.1045-31G=) n.429G= c.817-31G= (n.817-31G=) | |
17 | g.42687690G>A | CA626069149 | CNTNAP1 | c.1045-30G>A (n.1045-30G>A) n.430G>A c.817-30G>A (n.817-30G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687690G>C | CA8581698 | CNTNAP1 | c.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 |
17 | g.42687690G= | CA2260598498 | CNTNAP1 | c.1045-30G= (n.1045-30G=) n.430G= c.817-30G= (n.817-30G=) | |
17 | g.42687690G>T | CA2260598497 | CNTNAP1 | c.1045-30G>T (n.1045-30G>T) n.430G>T c.817-30G>T (n.817-30G>T) | dbSNP |
17 | g.42687691T>C | CA2637974399 | CNTNAP1 | c.1045-29T>C (n.1045-29T>C) n.431T>C c.817-29T>C (n.817-29T>C) | gnomAD v4 |
17 | g.42687691T>G | CA8581699 | CNTNAP1 | c.1045-29T>G (n.1045-29T>G) n.431T>G c.817-29T>G (n.817-29T>G) | dbSNP ExAC gnomAD v2 |
17 | g.42687691T= | CA2260598499 | CNTNAP1 | c.1045-29T= (n.1045-29T=) n.431T= c.817-29T= (n.817-29T=) | |
17 | g.42687693T>C | CA983843202 | CNTNAP1 | c.1045-27T>C (n.1045-27T>C) n.433T>C c.817-27T>C (n.817-27T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687693T= | CA2260598500 | CNTNAP1 | c.1045-27T= (n.1045-27T=) n.433T= c.817-27T= (n.817-27T=) | |
17 | g.42687695G>C | CA8581700 | CNTNAP1 | c.1045-25G>C (n.1045-25G>C) n.435G>C c.817-25G>C (n.817-25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687695G= | CA2260598501 | CNTNAP1 | c.1045-25G= (n.1045-25G=) n.435G= c.817-25G= (n.817-25G=) | |
17 | g.42687697T>C | CA8581701 | CNTNAP1 | c.1045-23T>C (n.1045-23T>C) n.437T>C c.817-23T>C (n.817-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687697T= | CA2260598502 | CNTNAP1 | c.1045-23T= (n.1045-23T=) n.437T= c.817-23T= (n.817-23T=) | |
17 | g.42687698G>A | CA2637974400 | CNTNAP1 | c.1045-22G>A (n.1045-22G>A) n.438G>A c.817-22G>A (n.817-22G>A) | gnomAD v4 |
17 | g.42687699C>T | CA2637974401 | CNTNAP1 | c.1045-21C>T (n.1045-21C>T) n.439C>T c.817-21C>T (n.817-21C>T) | gnomAD v4 |
17 | g.42687700G>A | CA772117066 | CNTNAP1 | c.1045-20G>A (n.1045-20G>A) n.440G>A c.817-20G>A (n.817-20G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687700G= | CA2260598503 | CNTNAP1 | c.1045-20G= (n.1045-20G=) n.440G= c.817-20G= (n.817-20G=) | |
17 | g.42687701T>C | CA772117068 | CNTNAP1 | c.1045-19T>C (n.1045-19T>C) n.441T>C c.817-19T>C (n.817-19T>C) | dbSNP gnomAD v4 |
17 | g.42687701T= | CA2260598504 | CNTNAP1 | c.1045-19T= (n.1045-19T=) n.441T= c.817-19T= (n.817-19T=) | |
17 | g.42687702del | CA2594096139 | CNTNAP1 | c.1045-18del (n.1045-18del) n.442del c.817-18del (n.817-18del) | gnomAD v3 gnomAD v4 |
17 | g.42687702C>G | CA2733740687 | CNTNAP1 | c.1045-18C>G (n.1045-18C>G) n.442C>G c.817-18C>G (n.817-18C>G) | dbSNP |
17 | g.42687703T>C | CA2809529684 | CNTNAP1 | c.1045-17T>C (n.1045-17T>C) n.443T>C c.817-17T>C (n.817-17T>C) | |
17 | g.42687705C= | CA2260598506 | CNTNAP1 | c.1045-15C= (n.1045-15C=) n.445C= c.817-15C= (n.817-15C=) | |
17 | g.42687705C>G | CA2260598505 | CNTNAP1 | c.1045-15C>G (n.1045-15C>G) n.445C>G c.817-15C>G (n.817-15C>G) | dbSNP |
17 | g.42687706A>C | CA2637974402 | CNTNAP1 | c.1045-14A>C (n.1045-14A>C) n.446A>C c.817-14A>C (n.817-14A>C) | gnomAD v4 |
17 | g.42687706A>G | CA2637974403 | CNTNAP1 | c.1045-14A>G (n.1045-14A>G) n.446A>G c.817-14A>G (n.817-14A>G) | gnomAD v4 |
17 | g.42687707C= | CA2260598507 | CNTNAP1 | c.1045-13C= (n.1045-13C=) n.447C= c.817-13C= (n.817-13C=) | |
17 | g.42687707C>T | CA8581702 | CNTNAP1 | c.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 |
17 | g.42687709T>G | CA2637974404 | CNTNAP1 | c.1045-11T>G (n.1045-11T>G) n.449T>G c.817-11T>G (n.817-11T>G) | gnomAD v4 |
17 | g.42687710T>C | CA772117069 | CNTNAP1 | c.1045-10T>C (n.1045-10T>C) n.450T>C c.817-10T>C (n.817-10T>C) | dbSNP |
17 | g.42687710T= | CA2260598508 | CNTNAP1 | c.1045-10T= (n.1045-10T=) n.450T= c.817-10T= (n.817-10T=) | |
17 | g.42687712G>A | CA8581703 | CNTNAP1 | c.1045-8G>A (n.1045-8G>A) n.452G>A c.817-8G>A (n.817-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687712G= | CA2260598509 | CNTNAP1 | c.1045-8G= (n.1045-8G=) n.452G= c.817-8G= (n.817-8G=) | |
17 | g.42687712G>T | CA2637974405 | CNTNAP1 | c.1045-8G>T (n.1045-8G>T) n.452G>T c.817-8G>T (n.817-8G>T) | gnomAD v4 |
17 | g.42687713C>A | CA290793003 | CNTNAP1 | c.1045-7C>A (n.1045-7C>A) n.453C>A c.817-7C>A (n.817-7C>A) | dbSNP |
17 | g.42687713C= | CA2260598510 | CNTNAP1 | c.1045-7C= (n.1045-7C=) n.453C= c.817-7C= (n.817-7C=) | |
17 | g.42687713C>G | CA626069150 | CNTNAP1 | c.1045-7C>G (n.1045-7C>G) n.453C>G c.817-7C>G (n.817-7C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687713C>T | CA2637974407 | CNTNAP1 | c.1045-7C>T (n.1045-7C>T) n.453C>T c.817-7C>T (n.817-7C>T) | gnomAD v4 |
17 | g.42687716dup | CA2637974406 | CNTNAP1 | c.1045-4dup (n.1045-4dup) n.456dup c.817-4dup (n.817-4dup) | gnomAD v4 |
17 | g.42687715C>G | CA2637974408 | CNTNAP1 | c.1045-5C>G (n.1045-5C>G) n.455C>G c.817-5C>G (n.817-5C>G) | gnomAD v4 |
17 | g.42687716C= | CA2260598511 | CNTNAP1 | c.1045-4C= (n.1045-4C=) n.456C= c.817-4C= (n.817-4C=) | |
17 | g.42687716C>T | CA2260598512 | CNTNAP1 | c.1045-4C>T (n.1045-4C>T) n.456C>T c.817-4C>T (n.817-4C>T) | dbSNP |
17 | g.42687717T>C | CA8581704 | CNTNAP1 | c.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 |
17 | g.42687717T= | CA2260598513 | CNTNAP1 | c.1045-3T= (n.1045-3T=) n.457T= c.817-3T= (n.817-3T=) | |
17 | g.42687718A>C | CA399637508 | CNTNAP1 | c.1045-2A>C (n.1045-2A>C) n.458A>C c.817-2A>C (n.817-2A>C) | |
17 | g.42687718A>G | CA399637509 | CNTNAP1 | c.1045-2A>G (n.1045-2A>G) n.458A>G c.817-2A>G (n.817-2A>G) | |
17 | g.42687718A>T | CA399637510 | CNTNAP1 | c.1045-2A>T (n.1045-2A>T) n.458A>T c.817-2A>T (n.817-2A>T) | |
17 | g.42687719G>A | CA399637511 | CNTNAP1 | c.1045-1G>A (n.1045-1G>A) n.459G>A c.817-1G>A (n.817-1G>A) | |
17 | g.42687719G>C | CA399637512 | CNTNAP1 | c.1045-1G>C (n.1045-1G>C) n.459G>C c.817-1G>C (n.817-1G>C) | |
17 | g.42687719G>T | CA399637513 | CNTNAP1 | c.1045-1G>T (n.1045-1G>T) n.459G>T c.817-1G>T (n.817-1G>T) | |
17 | g.42687720G>A | CA399637515 | CNTNAP1 | c.1045G>A (p.Gly349Ser) n.460G>A c.817G>A (p.Gly273Ser) | dbSNP |
17 | g.42687720G>C | CA399637517 | CNTNAP1 | c.1045G>C (p.Gly349Arg) n.460G>C c.817G>C (p.Gly273Arg) | |
17 | g.42687720G= | CA2260598514 | CNTNAP1 | c.1045G= (p.Gly349=) n.460G= c.817G= (p.Gly273=) | |
17 | g.42687720G>T | CA399637518 | CNTNAP1 | c.1045G>T (p.Gly349Cys) n.460G>T c.817G>T (p.Gly273Cys) | |
17 | g.42687721G>A | CA399637519 | CNTNAP1 | c.1046G>A (p.Gly349Asp) n.461G>A c.818G>A (p.Gly273Asp) | dbSNP |
17 | g.42687721G>C | CA399637520 | CNTNAP1 | c.1046G>C (p.Gly349Ala) n.461G>C c.818G>C (p.Gly273Ala) | |
17 | g.42687721G= | CA2260598515 | CNTNAP1 | c.1046G= (p.Gly349=) n.461G= c.818G= (p.Gly273=) | |
17 | g.42687721G>T | CA399637522 | CNTNAP1 | c.1046G>T (p.Gly349Val) n.461G>T c.818G>T (p.Gly273Val) | ClinVar dbSNP |
17 | g.42687722T>A | CA500091175 | CNTNAP1 | c.1047T>A (p.Gly349=) n.462T>A c.819T>A (p.Gly273=) | |
17 | g.42687722T>C | CA500091174 | CNTNAP1 | c.1047T>C (p.Gly349=) n.462T>C c.819T>C (p.Gly273=) | gnomAD v4 |
17 | g.42687722T>G | CA500091176 | CNTNAP1 | c.1047T>G (p.Gly349=) n.462T>G c.819T>G (p.Gly273=) | |
17 | g.42687723A>C | CA399637524 | CNTNAP1 | c.1048A>C (p.Lys350Gln) n.463A>C c.820A>C (p.Lys274Gln) | |
17 | g.42687723A>G | CA399637527 | CNTNAP1 | c.1048A>G (p.Lys350Glu) n.463A>G c.820A>G (p.Lys274Glu) | |
17 | g.42687723A>T | CA399637525 | CNTNAP1 | c.1048A>T (p.Lys350Ter) n.463A>T c.820A>T (p.Lys274Ter) | |
17 | g.42687724A>C | CA399637529 | CNTNAP1 | c.1049A>C (p.Lys350Thr) n.464A>C c.821A>C (p.Lys274Thr) | |
17 | g.42687724A>G | CA399637530 | CNTNAP1 | c.1049A>G (p.Lys350Arg) n.464A>G c.821A>G (p.Lys274Arg) | |
17 | g.42687724A>T | CA399637532 | CNTNAP1 | c.1049A>T (p.Lys350Met) n.464A>T c.821A>T (p.Lys274Met) | |
17 | g.42687725G>A | CA500091177 | CNTNAP1 | c.1050G>A (p.Lys350=) n.465G>A c.822G>A (p.Lys274=) | |
17 | g.42687725G>C | CA399637534 | CNTNAP1 | c.1050G>C (p.Lys350Asn) n.465G>C c.822G>C (p.Lys274Asn) | |
17 | g.42687725G>T | CA399637536 | CNTNAP1 | c.1050G>T (p.Lys350Asn) n.465G>T c.822G>T (p.Lys274Asn) | |
17 | g.42687726G>A | CA399637538 | CNTNAP1 | c.1051G>A (p.Val351Met) n.466G>A c.823G>A (p.Val275Met) | gnomAD v4 |
17 | g.42687726G>C | CA399637539 | CNTNAP1 | c.1051G>C (p.Val351Leu) n.466G>C c.823G>C (p.Val275Leu) | |
17 | g.42687726G>T | CA399637541 | CNTNAP1 | c.1051G>T (p.Val351Leu) n.466G>T c.823G>T (p.Val275Leu) | gnomAD v4 |
17 | g.42687727T>A | CA399637543 | CNTNAP1 | c.1052T>A (p.Val351Glu) n.467T>A c.824T>A (p.Val275Glu) | |
17 | g.42687727T>C | CA399637545 | CNTNAP1 | c.1052T>C (p.Val351Ala) n.467T>C c.824T>C (p.Val275Ala) | dbSNP gnomAD v4 |
17 | g.42687727T>G | CA399637546 | CNTNAP1 | c.1052T>G (p.Val351Gly) n.467T>G c.824T>G (p.Val275Gly) | |
17 | g.42687727T= | CA2260598516 | CNTNAP1 | c.1052T= (p.Val351=) n.467T= c.824T= (p.Val275=) | |
17 | g.42687728G>A | CA500091180 | CNTNAP1 | c.1053G>A (p.Val351=) n.468G>A c.825G>A (p.Val275=) | |
17 | g.42687728G>C | CA500091178 | CNTNAP1 | c.1053G>C (p.Val351=) n.468G>C c.825G>C (p.Val275=) | |
17 | g.42687728G>T | CA500091179 | CNTNAP1 | c.1053G>T (p.Val351=) n.468G>T c.825G>T (p.Val275=) | |
17 | g.42687729G>A | CA399637551 | CNTNAP1 | c.1054G>A (p.Ala352Thr) n.469G>A c.826G>A (p.Ala276Thr) | gnomAD v4 |
17 | g.42687729G>C | CA399637550 | CNTNAP1 | c.1054G>C (p.Ala352Pro) n.469G>C c.826G>C (p.Ala276Pro) | |
17 | g.42687729G>T | CA399637549 | CNTNAP1 | c.1054G>T (p.Ala352Ser) n.469G>T c.826G>T (p.Ala276Ser) | |
17 | g.42687730C>A | CA399637556 | CNTNAP1 | c.1055C>A (p.Ala352Asp) n.470C>A c.827C>A (p.Ala276Asp) | |
17 | g.42687730C>G | CA399637552 | CNTNAP1 | c.1055C>G (p.Ala352Gly) n.470C>G c.827C>G (p.Ala276Gly) | dbSNP |
17 | g.42687730C>T | CA399637554 | CNTNAP1 | c.1055C>T (p.Ala352Val) n.470C>T c.827C>T (p.Ala276Val) | |
17 | g.42687731T>A | CA500091182 | CNTNAP1 | c.1056T>A (p.Ala352=) n.471T>A c.828T>A (p.Ala276=) | |
17 | g.42687731T>C | CA500091183 | CNTNAP1 | c.1056T>C (p.Ala352=) n.471T>C c.828T>C (p.Ala276=) | |
17 | g.42687731T>G | CA500091181 | CNTNAP1 | c.1056T>G (p.Ala352=) n.471T>G c.828T>G (p.Ala276=) | |
17 | g.42687732T>A | CA399637558 | CNTNAP1 | c.1057T>A (p.Phe353Ile) n.472T>A c.829T>A (p.Phe277Ile) | |
17 | g.42687732T>C | CA399637559 | CNTNAP1 | c.1057T>C (p.Phe353Leu) n.472T>C c.829T>C (p.Phe277Leu) | |
17 | g.42687732T>G | CA399637561 | CNTNAP1 | c.1057T>G (p.Phe353Val) n.472T>G c.829T>G (p.Phe277Val) | gnomAD v4 |
17 | g.42687733T>A | CA399637563 | CNTNAP1 | c.1058T>A (p.Phe353Tyr) n.473T>A c.830T>A (p.Phe277Tyr) | |
17 | g.42687733T>C | CA399637565 | CNTNAP1 | c.1058T>C (p.Phe353Ser) n.473T>C c.830T>C (p.Phe277Ser) | |
17 | g.42687733T>G | CA399637567 | CNTNAP1 | c.1058T>G (p.Phe353Cys) n.473T>G c.830T>G (p.Phe277Cys) | |
17 | g.42687734T>A | CA399637568 | CNTNAP1 | c.1059T>A (p.Phe353Leu) n.474T>A c.831T>A (p.Phe277Leu) | |
17 | g.42687734T>C | CA500091184 | CNTNAP1 | c.1059T>C (p.Phe353=) n.474T>C c.831T>C (p.Phe277=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687734T>G | CA399637569 | CNTNAP1 | c.1059T>G (p.Phe353Leu) n.474T>G c.831T>G (p.Phe277Leu) | |
17 | g.42687734T= | CA2260598517 | CNTNAP1 | c.1059T= (p.Phe353=) n.474T= c.831T= (p.Phe277=) | |
17 | g.42687735C>A | CA399637571 | CNTNAP1 | c.1060C>A (p.Arg354Ser) n.475C>A c.832C>A (p.Arg278Ser) | |
17 | g.42687735C>G | CA399637573 | CNTNAP1 | c.1060C>G (p.Arg354Gly) n.475C>G c.832C>G (p.Arg278Gly) | |
17 | g.42687735C>T | CA399637574 | CNTNAP1 | c.1060C>T (p.Arg354Cys) n.475C>T c.832C>T (p.Arg278Cys) | dbSNP COSMIC |
17 | g.42687736G>A | CA399637579 | CNTNAP1 | c.1061G>A (p.Arg354His) n.476G>A c.833G>A (p.Arg278His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42687736G>C | CA399637576 | CNTNAP1 | c.1061G>C (p.Arg354Pro) n.476G>C c.833G>C (p.Arg278Pro) | dbSNP |
17 | g.42687736G= | CA2260598518 | CNTNAP1 | c.1061G= (p.Arg354=) n.476G= c.833G= (p.Arg278=) | |
17 | g.42687736G>T | CA399637577 | CNTNAP1 | c.1061G>T (p.Arg354Leu) n.476G>T c.833G>T (p.Arg278Leu) | |
17 | g.42687737T>A | CA500091185 | CNTNAP1 | c.1062T>A (p.Arg354=) n.477T>A c.834T>A (p.Arg278=) | |
17 | g.42687737T>C | CA500091186 | CNTNAP1 | c.1062T>C (p.Arg354=) n.477T>C c.834T>C (p.Arg278=) | |
17 | g.42687737T>G | CA500091187 | CNTNAP1 | c.1062T>G (p.Arg354=) n.477T>G c.834T>G (p.Arg278=) | |
17 | g.42687738T>A | CA399637582 | CNTNAP1 | c.1063T>A (p.Cys355Ser) n.478T>A c.835T>A (p.Cys279Ser) | |
17 | g.42687738T>C | CA399637583 | CNTNAP1 | c.1063T>C (p.Cys355Arg) n.478T>C c.835T>C (p.Cys279Arg) | |
17 | g.42687738T>G | CA399637585 | CNTNAP1 | c.1063T>G (p.Cys355Gly) n.478T>G c.835T>G (p.Cys279Gly) | |
17 | g.42687739G>A | CA399637587 | CNTNAP1 | c.1064G>A (p.Cys355Tyr) n.479G>A c.836G>A (p.Cys279Tyr) | |
17 | g.42687739G>C | CA399637588 | CNTNAP1 | c.1064G>C (p.Cys355Ser) n.479G>C c.836G>C (p.Cys279Ser) | |
17 | g.42687739G>T | CA399637590 | CNTNAP1 | c.1064G>T (p.Cys355Phe) n.479G>T c.836G>T (p.Cys279Phe) | gnomAD v4 |
17 | g.42687740C>A | CA399637592 | CNTNAP1 | c.1065C>A (p.Cys355Ter) n.480C>A c.837C>A (p.Cys279Ter) | |
17 | g.42687740C= | CA2260598519 | CNTNAP1 | c.1065C= (p.Cys355=) n.480C= c.837C= (p.Cys279=) | |
17 | g.42687740C>G | CA399637594 | CNTNAP1 | c.1065C>G (p.Cys355Trp) n.480C>G c.837C>G (p.Cys279Trp) | |
17 | g.42687740C>T | CA500091188 | CNTNAP1 | c.1065C>T (p.Cys355=) n.480C>T c.837C>T (p.Cys279=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687741C>A | CA399637595 | CNTNAP1 | c.1066C>A (p.Leu356Met) n.481C>A c.838C>A (p.Leu280Met) | |
17 | g.42687741C= | CA2260598520 | CNTNAP1 | c.1066C= (p.Leu356=) n.481C= c.838C= (p.Leu280=) | |
17 | g.42687741C>G | CA290793005 | CNTNAP1 | c.1066C>G (p.Leu356Val) n.481C>G c.838C>G (p.Leu280Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687741C>T | CA500091189 | CNTNAP1 | c.1066C>T (p.Leu356=) n.481C>T c.838C>T (p.Leu280=) | dbSNP |
17 | g.42687742T>A | CA399637598 | CNTNAP1 | c.1067T>A (p.Leu356Gln) n.482T>A c.839T>A (p.Leu280Gln) | |
17 | g.42687742T>C | CA399637600 | CNTNAP1 | c.1067T>C (p.Leu356Pro) n.482T>C c.839T>C (p.Leu280Pro) | |
17 | g.42687742T>G | CA399637601 | CNTNAP1 | c.1067T>G (p.Leu356Arg) n.482T>G c.839T>G (p.Leu280Arg) | |
17 | g.42687743G>A | CA500091191 | CNTNAP1 | c.1068G>A (p.Leu356=) n.483G>A c.840G>A (p.Leu280=) | |
17 | g.42687743G>C | CA500091192 | CNTNAP1 | c.1068G>C (p.Leu356=) n.483G>C c.840G>C (p.Leu280=) | |
17 | g.42687743G>T | CA500091190 | CNTNAP1 | c.1068G>T (p.Leu356=) n.483G>T c.840G>T (p.Leu280=) | |
17 | g.42687744G>A | CA399637605 | CNTNAP1 | c.1069G>A (p.Asp357Asn) n.484G>A c.841G>A (p.Asp281Asn) | |
17 | g.42687744G>C | CA399637607 | CNTNAP1 | c.1069G>C (p.Asp357His) n.484G>C c.841G>C (p.Asp281His) | |
17 | g.42687744G>T | CA399637604 | CNTNAP1 | c.1069G>T (p.Asp357Tyr) n.484G>T c.841G>T (p.Asp281Tyr) | |
17 | g.42687745A= | CA2260598521 | CNTNAP1 | c.1070A= (p.Asp357=) n.485A= c.842A= (p.Asp281=) | |
17 | g.42687745A>C | CA399637609 | CNTNAP1 | c.1070A>C (p.Asp357Ala) n.485A>C c.842A>C (p.Asp281Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687745A>G | CA399637612 | CNTNAP1 | c.1070A>G (p.Asp357Gly) n.485A>G c.842A>G (p.Asp281Gly) | dbSNP |
17 | g.42687745A>T | CA399637611 | CNTNAP1 | c.1070A>T (p.Asp357Val) n.485A>T c.842A>T (p.Asp281Val) | dbSNP |
17 | g.42687746C>A | CA399637614 | CNTNAP1 | c.1071C>A (p.Asp357Glu) n.486C>A c.843C>A (p.Asp281Glu) | gnomAD v4 |
17 | g.42687746C= | CA2260598522 | CNTNAP1 | c.1071C= (p.Asp357=) n.486C= c.843C= (p.Asp281=) | |
17 | g.42687746C>G | CA399637616 | CNTNAP1 | c.1071C>G (p.Asp357Glu) n.486C>G c.843C>G (p.Asp281Glu) | |
17 | g.42687746C>T | CA500091193 | CNTNAP1 | c.1071C>T (p.Asp357=) n.486C>T c.843C>T (p.Asp281=) | dbSNP |
17 | g.42687749_42687778dup | CA2637974409 | CNTNAP1 | c.1074_1103dup (p.Pro368_His369insValProHisProIleAsnPheGlyGlyPro) n.489_518dup c.846_875dup (p.Pro292_His293insValProHisProIleAsnPheGlyGlyPro) | gnomAD v4 |
17 | g.42687747C>A | CA399637618 | CNTNAP1 | c.1072C>A (p.Pro358Thr) n.487C>A c.844C>A (p.Pro282Thr) | |
17 | g.42687747C>G | CA399637620 | CNTNAP1 | c.1072C>G (p.Pro358Ala) n.487C>G c.844C>G (p.Pro282Ala) | |
17 | g.42687747C>T | CA399637622 | CNTNAP1 | c.1072C>T (p.Pro358Ser) n.487C>T c.844C>T (p.Pro282Ser) | |
17 | g.42687748C>A | CA399637624 | CNTNAP1 | c.1073C>A (p.Pro358Gln) n.488C>A c.845C>A (p.Pro282Gln) | |
17 | g.42687748C>G | CA399637626 | CNTNAP1 | c.1073C>G (p.Pro358Arg) n.488C>G c.845C>G (p.Pro282Arg) | |
17 | g.42687748C>T | CA399637627 | CNTNAP1 | c.1073C>T (p.Pro358Leu) n.488C>T c.845C>T (p.Pro282Leu) | |
17 | g.42687749G>A | CA500091194 | CNTNAP1 | c.1074G>A (p.Pro358=) n.489G>A c.846G>A (p.Pro282=) | COSMIC |
17 | g.42687749G>C | CA500091195 | CNTNAP1 | c.1074G>C (p.Pro358=) n.489G>C c.846G>C (p.Pro282=) | |
17 | g.42687749G= | CA2260598523 | CNTNAP1 | c.1074G= (p.Pro358=) n.489G= c.846G= (p.Pro282=) | |
17 | g.42687749G>T | CA8581705 | CNTNAP1 | c.1074G>T (p.Pro358=) n.489G>T c.846G>T (p.Pro282=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687750G>A | CA399637631 | CNTNAP1 | c.1075G>A (p.Val359Ile) n.490G>A c.847G>A (p.Val283Ile) | dbSNP |
17 | g.42687750G>C | CA399637632 | CNTNAP1 | c.1075G>C (p.Val359Leu) n.490G>C c.847G>C (p.Val283Leu) | |
17 | g.42687750G>T | CA399637634 | CNTNAP1 | c.1075G>T (p.Val359Leu) n.490G>T c.847G>T (p.Val283Leu) | |
17 | g.42687751T>A | CA399637636 | CNTNAP1 | c.1076T>A (p.Val359Glu) n.491T>A c.848T>A (p.Val283Glu) | |
17 | g.42687751T>C | CA399637640 | CNTNAP1 | c.1076T>C (p.Val359Ala) n.491T>C c.848T>C (p.Val283Ala) | |
17 | g.42687751T>G | CA399637637 | CNTNAP1 | c.1076T>G (p.Val359Gly) n.491T>G c.848T>G (p.Val283Gly) | dbSNP |
17 | g.42687751T= | CA2260598524 | CNTNAP1 | c.1076T= (p.Val359=) n.491T= c.848T= (p.Val283=) | |
17 | g.42687752A>C | CA500091198 | CNTNAP1 | c.1077A>C (p.Val359=) n.492A>C c.849A>C (p.Val283=) | |
17 | g.42687752A>G | CA500091196 | CNTNAP1 | c.1077A>G (p.Val359=) n.492A>G c.849A>G (p.Val283=) | |
17 | g.42687752A>T | CA500091197 | CNTNAP1 | c.1077A>T (p.Val359=) n.492A>T c.849A>T (p.Val283=) | |
17 | g.42687753C>A | CA399637642 | CNTNAP1 | c.1078C>A (p.Pro360Thr) n.493C>A c.850C>A (p.Pro284Thr) | |
17 | g.42687753C>G | CA399637643 | CNTNAP1 | c.1078C>G (p.Pro360Ala) n.493C>G c.850C>G (p.Pro284Ala) | |
17 | g.42687753C>T | CA399637645 | CNTNAP1 | c.1078C>T (p.Pro360Ser) n.493C>T c.850C>T (p.Pro284Ser) | |
17 | g.42687754C>A | CA8581706 | CNTNAP1 | c.1079C>A (p.Pro360Gln) n.494C>A c.851C>A (p.Pro284Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687754C= | CA2260598525 | CNTNAP1 | c.1079C= (p.Pro360=) n.494C= c.851C= (p.Pro284=) | |
17 | g.42687754C>G | CA399637648 | CNTNAP1 | c.1079C>G (p.Pro360Arg) n.494C>G c.851C>G (p.Pro284Arg) | dbSNP |
17 | g.42687754C>T | CA8581707 | CNTNAP1 | c.1079C>T (p.Pro360Leu) n.494C>T c.851C>T (p.Pro284Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687755G>A | CA500091200 | CNTNAP1 | c.1080G>A (p.Pro360=) n.495G>A c.852G>A (p.Pro284=) | dbSNP COSMIC |
17 | g.42687755G>C | CA500091201 | CNTNAP1 | c.1080G>C (p.Pro360=) n.495G>C c.852G>C (p.Pro284=) | |
17 | g.42687755G>T | CA500091199 | CNTNAP1 | c.1080G>T (p.Pro360=) n.495G>T c.852G>T (p.Pro284=) | |
17 | g.42687756C>A | CA399637652 | CNTNAP1 | c.1081C>A (p.His361Asn) n.496C>A c.853C>A (p.His285Asn) | |
17 | g.42687756C= | CA2260598526 | CNTNAP1 | c.1081C= (p.His361=) n.496C= c.853C= (p.His285=) | |
17 | g.42687756C>G | CA399637653 | CNTNAP1 | c.1081C>G (p.His361Asp) n.496C>G c.853C>G (p.His285Asp) | COSMIC |
17 | g.42687756C>T | CA8581708 | CNTNAP1 | c.1081C>T (p.His361Tyr) n.496C>T c.853C>T (p.His285Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687757A>C | CA399637658 | CNTNAP1 | c.1082A>C (p.His361Pro) n.497A>C c.854A>C (p.His285Pro) | dbSNP |
17 | g.42687757A>G | CA399637660 | CNTNAP1 | c.1082A>G (p.His361Arg) n.497A>G c.854A>G (p.His285Arg) | |
17 | g.42687757A>T | CA399637656 | CNTNAP1 | c.1082A>T (p.His361Leu) n.497A>T c.854A>T (p.His285Leu) | |
17 | g.42687758C>A | CA399637661 | CNTNAP1 | c.1083C>A (p.His361Gln) n.498C>A c.855C>A (p.His285Gln) | |
17 | g.42687758C>G | CA399637663 | CNTNAP1 | c.1083C>G (p.His361Gln) n.498C>G c.855C>G (p.His285Gln) | |
17 | g.42687758C>T | CA500091202 | CNTNAP1 | c.1083C>T (p.His361=) n.498C>T c.855C>T (p.His285=) | dbSNP gnomAD v4 |
17 | g.42687759C>A | CA399637665 | CNTNAP1 | c.1084C>A (p.Pro362Thr) n.499C>A c.856C>A (p.Pro286Thr) | |
17 | g.42687759C= | CA2260598527 | CNTNAP1 | c.1084C= (p.Pro362=) n.499C= c.856C= (p.Pro286=) | |
17 | g.42687759C>G | CA399637667 | CNTNAP1 | c.1084C>G (p.Pro362Ala) n.499C>G c.856C>G (p.Pro286Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687759C>T | CA399637668 | CNTNAP1 | c.1084C>T (p.Pro362Ser) n.499C>T c.856C>T (p.Pro286Ser) | gnomAD v4 COSMIC |
17 | g.42687760C>A | CA399637670 | CNTNAP1 | c.1085C>A (p.Pro362His) n.500C>A c.857C>A (p.Pro286His) | |
17 | g.42687760C= | CA2260598528 | CNTNAP1 | c.1085C= (p.Pro362=) n.500C= c.857C= (p.Pro286=) | |
17 | g.42687760C>G | CA399637672 | CNTNAP1 | c.1085C>G (p.Pro362Arg) n.500C>G c.857C>G (p.Pro286Arg) | |
17 | g.42687760C>T | CA8581709 | CNTNAP1 | c.1085C>T (p.Pro362Leu) n.500C>T c.857C>T (p.Pro286Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687761del | CA2637974410 | CNTNAP1 | c.1086del (p.Ile363SerfsTer?) n.501del c.858del (p.Ile287SerfsTer?) | gnomAD v4 |
17 | g.42687761T>A | CA500091203 | CNTNAP1 | c.1086T>A (p.Pro362=) n.501T>A c.858T>A (p.Pro286=) | |
17 | g.42687761T>C | CA500091204 | CNTNAP1 | c.1086T>C (p.Pro362=) n.501T>C c.858T>C (p.Pro286=) | |
17 | g.42687761T>G | CA500091205 | CNTNAP1 | c.1086T>G (p.Pro362=) n.501T>G c.858T>G (p.Pro286=) | |
17 | g.42687762A= | CA2260598529 | CNTNAP1 | c.1087A= (p.Ile363=) n.502A= c.859A= (p.Ile287=) | |
17 | g.42687762A>C | CA399637675 | CNTNAP1 | c.1087A>C (p.Ile363Leu) n.502A>C c.859A>C (p.Ile287Leu) | |
17 | g.42687762A>G | CA399637677 | CNTNAP1 | c.1087A>G (p.Ile363Val) n.502A>G c.859A>G (p.Ile287Val) | ClinVar dbSNP gnomAD v4 |
17 | g.42687762A>T | CA399637678 | CNTNAP1 | c.1087A>T (p.Ile363Phe) n.502A>T c.859A>T (p.Ile287Phe) | |
17 | g.42687763T>A | CA399637680 | CNTNAP1 | c.1088T>A (p.Ile363Asn) n.503T>A c.860T>A (p.Ile287Asn) | |
17 | g.42687763T>C | CA399637682 | CNTNAP1 | c.1088T>C (p.Ile363Thr) n.503T>C c.860T>C (p.Ile287Thr) | |
17 | g.42687763T>G | CA399637684 | CNTNAP1 | c.1088T>G (p.Ile363Ser) n.503T>G c.860T>G (p.Ile287Ser) | ClinVar gnomAD v4 |
17 | g.42687764C>A | CA500091207 | CNTNAP1 | c.1089C>A (p.Ile363=) n.504C>A c.861C>A (p.Ile287=) | |
17 | g.42687764C>G | CA399637685 | CNTNAP1 | c.1089C>G (p.Ile363Met) n.504C>G c.861C>G (p.Ile287Met) | gnomAD v4 |
17 | g.42687764C>T | CA500091206 | CNTNAP1 | c.1089C>T (p.Ile363=) n.504C>T c.861C>T (p.Ile287=) | |
17 | g.42687765A>C | CA399637687 | CNTNAP1 | c.1090A>C (p.Asn364His) n.505A>C c.862A>C (p.Asn288His) | |
17 | g.42687765A>G | CA399637688 | CNTNAP1 | c.1090A>G (p.Asn364Asp) n.505A>G c.862A>G (p.Asn288Asp) | |
17 | g.42687765A>T | CA399637690 | CNTNAP1 | c.1090A>T (p.Asn364Tyr) n.505A>T c.862A>T (p.Asn288Tyr) | |
17 | g.42687766A>C | CA399637692 | CNTNAP1 | c.1091A>C (p.Asn364Thr) n.506A>C c.863A>C (p.Asn288Thr) | gnomAD v4 |
17 | g.42687766A>G | CA399637693 | CNTNAP1 | c.1091A>G (p.Asn364Ser) n.506A>G c.863A>G (p.Asn288Ser) | |
17 | g.42687766A>T | CA399637695 | CNTNAP1 | c.1091A>T (p.Asn364Ile) n.506A>T c.863A>T (p.Asn288Ile) | |
17 | g.42687767C>A | CA399637697 | CNTNAP1 | c.1092C>A (p.Asn364Lys) n.507C>A c.864C>A (p.Asn288Lys) | |
17 | g.42687767C>G | CA399637699 | CNTNAP1 | c.1092C>G (p.Asn364Lys) n.507C>G c.864C>G (p.Asn288Lys) | |
17 | g.42687767C>T | CA500091208 | CNTNAP1 | c.1092C>T (p.Asn364=) n.507C>T c.864C>T (p.Asn288=) | |
17 | g.42687768T>A | CA399637701 | CNTNAP1 | c.1093T>A (p.Phe365Ile) n.508T>A c.865T>A (p.Phe289Ile) | |
17 | g.42687768T>C | CA399637702 | CNTNAP1 | c.1093T>C (p.Phe365Leu) n.508T>C c.865T>C (p.Phe289Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687768T>G | CA399637704 | CNTNAP1 | c.1093T>G (p.Phe365Val) n.508T>G c.865T>G (p.Phe289Val) | |
17 | g.42687768T= | CA2260598530 | CNTNAP1 | c.1093T= (p.Phe365=) n.508T= c.865T= (p.Phe289=) | |
17 | g.42687769T>A | CA399637706 | CNTNAP1 | c.1094T>A (p.Phe365Tyr) n.509T>A c.866T>A (p.Phe289Tyr) | |
17 | g.42687769T>C | CA399637707 | CNTNAP1 | c.1094T>C (p.Phe365Ser) n.509T>C c.866T>C (p.Phe289Ser) | |
17 | g.42687769T>G | CA399637709 | CNTNAP1 | c.1094T>G (p.Phe365Cys) n.509T>G c.866T>G (p.Phe289Cys) | |
17 | g.42687770C>A | CA399637712 | CNTNAP1 | c.1095C>A (p.Phe365Leu) n.510C>A c.867C>A (p.Phe289Leu) | |
17 | g.42687770C>G | CA399637711 | CNTNAP1 | c.1095C>G (p.Phe365Leu) n.510C>G c.867C>G (p.Phe289Leu) | gnomAD v4 |
17 | g.42687770C>T | CA500091209 | CNTNAP1 | c.1095C>T (p.Phe365=) n.510C>T c.867C>T (p.Phe289=) | gnomAD v4 COSMIC |
17 | g.42687771G>A | CA399637714 | CNTNAP1 | c.1096G>A (p.Gly366Arg) n.511G>A c.868G>A (p.Gly290Arg) | dbSNP COSMIC |
17 | g.42687771G>C | CA399637718 | CNTNAP1 | c.1096G>C (p.Gly366Arg) n.511G>C c.868G>C (p.Gly290Arg) | |
17 | g.42687771G>T | CA399637716 | CNTNAP1 | c.1096G>T (p.Gly366Ter) n.511G>T c.868G>T (p.Gly290Ter) | |
17 | g.42687772G>A | CA399637720 | CNTNAP1 | c.1097G>A (p.Gly366Glu) n.512G>A c.869G>A (p.Gly290Glu) | |
17 | g.42687772G>C | CA399637724 | CNTNAP1 | c.1097G>C (p.Gly366Ala) n.512G>C c.869G>C (p.Gly290Ala) | |
17 | g.42687772G>T | CA399637722 | CNTNAP1 | c.1097G>T (p.Gly366Val) n.512G>T c.869G>T (p.Gly290Val) | |
17 | g.42687773A= | CA2260598531 | CNTNAP1 | c.1098A= (p.Gly366=) n.513A= c.870A= (p.Gly290=) | |
17 | g.42687773A>C | CA500091210 | CNTNAP1 | c.1098A>C (p.Gly366=) n.513A>C c.870A>C (p.Gly290=) | |
17 | g.42687773A>G | CA500091211 | CNTNAP1 | c.1098A>G (p.Gly366=) n.513A>G c.870A>G (p.Gly290=) | dbSNP gnomAD v4 |
17 | g.42687773A>T | CA8581710 | CNTNAP1 | c.1098A>T (p.Gly366=) n.513A>T c.870A>T (p.Gly290=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687774G>A | CA399637729 | CNTNAP1 | c.1099G>A (p.Gly367Ser) n.514G>A c.871G>A (p.Gly291Ser) | dbSNP |
17 | g.42687774G>C | CA399637727 | CNTNAP1 | c.1099G>C (p.Gly367Arg) n.514G>C c.871G>C (p.Gly291Arg) | |
17 | g.42687774G>T | CA399637730 | CNTNAP1 | c.1099G>T (p.Gly367Cys) n.514G>T c.871G>T (p.Gly291Cys) | COSMIC |
17 | g.42687774_42687775dup | CA645574060 | CNTNAP1 | c.1099_1100dup (p.Pro368AlafsTer?) n.514_515dup c.871_872dup (p.Pro292AlafsTer?) | COSMIC |
17 | g.42687775G>A | CA399637731 | CNTNAP1 | c.1100G>A (p.Gly367Asp) n.515G>A c.872G>A (p.Gly291Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.42687775G>C | CA399637733 | CNTNAP1 | c.1100G>C (p.Gly367Ala) n.515G>C c.872G>C (p.Gly291Ala) | |
17 | g.42687775G>T | CA399637732 | CNTNAP1 | c.1100G>T (p.Gly367Val) n.515G>T c.872G>T (p.Gly291Val) | |
17 | g.42687776C>A | CA500091212 | CNTNAP1 | c.1101C>A (p.Gly367=) n.516C>A c.873C>A (p.Gly291=) | |
17 | g.42687776C>G | CA500091213 | CNTNAP1 | c.1101C>G (p.Gly367=) n.516C>G c.873C>G (p.Gly291=) | |
17 | g.42687776C>T | CA500091214 | CNTNAP1 | c.1101C>T (p.Gly367=) n.516C>T c.873C>T (p.Gly291=) | dbSNP |
17 | g.42687777C>A | CA399637734 | CNTNAP1 | c.1102C>A (p.Pro368Thr) n.517C>A c.874C>A (p.Pro292Thr) | |
17 | g.42687777C= | CA2260598532 | CNTNAP1 | c.1102C= (p.Pro368=) n.517C= c.874C= (p.Pro292=) | |
17 | g.42687777C>G | CA399637735 | CNTNAP1 | c.1102C>G (p.Pro368Ala) n.517C>G c.874C>G (p.Pro292Ala) | |
17 | g.42687777C>T | CA8581711 | CNTNAP1 | c.1102C>T (p.Pro368Ser) n.517C>T c.874C>T (p.Pro292Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687778C>A | CA399637736 | CNTNAP1 | c.1103C>A (p.Pro368His) n.518C>A c.875C>A (p.Pro292His) | |
17 | g.42687778C>G | CA399637737 | CNTNAP1 | c.1103C>G (p.Pro368Arg) n.518C>G c.875C>G (p.Pro292Arg) | |
17 | g.42687778C>T | CA399637738 | CNTNAP1 | c.1103C>T (p.Pro368Leu) n.518C>T c.875C>T (p.Pro292Leu) | gnomAD v4 COSMIC |
17 | g.42687779T>A | CA500091216 | CNTNAP1 | c.1104T>A (p.Pro368=) n.519T>A c.876T>A (p.Pro292=) | dbSNP |
17 | g.42687779T>C | CA500091217 | CNTNAP1 | c.1104T>C (p.Pro368=) n.519T>C c.876T>C (p.Pro292=) | gnomAD v4 |
17 | g.42687779T>G | CA500091215 | CNTNAP1 | c.1104T>G (p.Pro368=) n.519T>G c.876T>G (p.Pro292=) | |
17 | g.42687780C>A | CA399637739 | CNTNAP1 | c.1105C>A (p.His369Asn) n.520C>A c.877C>A (p.His293Asn) | |
17 | g.42687780C= | CA2260598533 | CNTNAP1 | c.1105C= (p.His369=) n.520C= c.877C= (p.His293=) | |
17 | g.42687780C>G | CA399637740 | CNTNAP1 | c.1105C>G (p.His369Asp) n.520C>G c.877C>G (p.His293Asp) | |
17 | g.42687780C>T | CA8581712 | CNTNAP1 | c.1105C>T (p.His369Tyr) n.520C>T c.877C>T (p.His293Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687781A>C | CA399637742 | CNTNAP1 | c.1106A>C (p.His369Pro) n.521A>C c.878A>C (p.His293Pro) | dbSNP |
17 | g.42687781A>G | CA399637743 | CNTNAP1 | c.1106A>G (p.His369Arg) n.521A>G c.878A>G (p.His293Arg) | |
17 | g.42687781A>T | CA399637744 | CNTNAP1 | c.1106A>T (p.His369Leu) n.521A>T c.878A>T (p.His293Leu) | |
17 | g.42687782C>A | CA399637746 | CNTNAP1 | c.1107C>A (p.His369Gln) n.522C>A c.879C>A (p.His293Gln) | |
17 | g.42687782C= | CA2260598534 | CNTNAP1 | c.1107C= (p.His369=) n.522C= c.879C= (p.His293=) | |
17 | g.42687782C>G | CA399637745 | CNTNAP1 | c.1107C>G (p.His369Gln) n.522C>G c.879C>G (p.His293Gln) | dbSNP gnomAD v4 |
17 | g.42687782C>T | CA500091218 | CNTNAP1 | c.1107C>T (p.His369=) n.522C>T c.879C>T (p.His293=) | |
17 | g.42687783A= | CA2260598535 | CNTNAP1 | c.1108A= (p.Asn370=) n.523A= c.880A= (p.Asn294=) | |
17 | g.42687783A>C | CA399637747 | CNTNAP1 | c.1108A>C (p.Asn370His) n.523A>C c.880A>C (p.Asn294His) | |
17 | g.42687783A>G | CA8581713 | CNTNAP1 | c.1108A>G (p.Asn370Asp) n.523A>G c.880A>G (p.Asn294Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687783A>T | CA399637748 | CNTNAP1 | c.1108A>T (p.Asn370Tyr) n.523A>T c.880A>T (p.Asn294Tyr) | |
17 | g.42687784A>C | CA399637749 | CNTNAP1 | c.1109A>C (p.Asn370Thr) n.524A>C c.881A>C (p.Asn294Thr) | |
17 | g.42687784A>G | CA399637750 | CNTNAP1 | c.1109A>G (p.Asn370Ser) n.524A>G c.881A>G (p.Asn294Ser) | |
17 | g.42687784A>T | CA399637751 | CNTNAP1 | c.1109A>T (p.Asn370Ile) n.524A>T c.881A>T (p.Asn294Ile) | |
17 | g.42687785C>A | CA399637752 | CNTNAP1 | c.1110C>A (p.Asn370Lys) n.525C>A c.882C>A (p.Asn294Lys) | |
17 | g.42687785C>G | CA399637753 | CNTNAP1 | c.1110C>G (p.Asn370Lys) n.525C>G c.882C>G (p.Asn294Lys) | |
17 | g.42687785C>T | CA500091219 | CNTNAP1 | c.1110C>T (p.Asn370=) n.525C>T c.882C>T (p.Asn294=) | |
17 | g.42687786T>A | CA399637754 | CNTNAP1 | c.1111T>A (p.Phe371Ile) n.526T>A c.883T>A (p.Phe295Ile) | |
17 | g.42687786T>C | CA290793037 | CNTNAP1 | c.1111T>C (p.Phe371Leu) n.526T>C c.883T>C (p.Phe295Leu) | dbSNP |
17 | g.42687786T>G | CA399637755 | CNTNAP1 | c.1111T>G (p.Phe371Val) n.526T>G c.883T>G (p.Phe295Val) | |
17 | g.42687786T= | CA2260598536 | CNTNAP1 | c.1111T= (p.Phe371=) n.526T= c.883T= (p.Phe295=) |