| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 17 | g.42687716dup | CA2637974406 | CNTNAP1 | c.1045-4dup (n.1045-4dup) n.456dup c.817-4dup (n.817-4dup) | 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=) | |
| 17 | g.42687787T>A | CA399637758 | CNTNAP1 | c.1112T>A (p.Phe371Tyr) n.527T>A c.884T>A (p.Phe295Tyr) | |
| 17 | g.42687787T>C | CA399637757 | CNTNAP1 | c.1112T>C (p.Phe371Ser) n.527T>C c.884T>C (p.Phe295Ser) | |
| 17 | g.42687787T>G | CA399637756 | CNTNAP1 | c.1112T>G (p.Phe371Cys) n.527T>G c.884T>G (p.Phe295Cys) | |
| 17 | g.42687788C>A | CA399637759 | CNTNAP1 | c.1113C>A (p.Phe371Leu) n.528C>A c.885C>A (p.Phe295Leu) | |
| 17 | g.42687788C= | CA2260598537 | CNTNAP1 | c.1113C= (p.Phe371=) n.528C= c.885C= (p.Phe295=) | |
| 17 | g.42687788C>G | CA399637760 | CNTNAP1 | c.1113C>G (p.Phe371Leu) n.528C>G c.885C>G (p.Phe295Leu) | gnomAD v4 |
| 17 | g.42687788C>T | CA500091220 | CNTNAP1 | c.1113C>T (p.Phe371=) n.528C>T c.885C>T (p.Phe295=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42687789G>A | CA290793039 | CNTNAP1 | c.1114G>A (p.Val372Ile) n.529G>A c.886G>A (p.Val296Ile) | dbSNP gnomAD v4 COSMIC |
| 17 | g.42687789G>C | CA399637761 | CNTNAP1 | c.1114G>C (p.Val372Leu) n.529G>C c.886G>C (p.Val296Leu) | |
| 17 | g.42687789G= | CA2260598538 | CNTNAP1 | c.1114G= (p.Val372=) n.529G= c.886G= (p.Val296=) | |
| 17 | g.42687789G>T | CA399637762 | CNTNAP1 | c.1114G>T (p.Val372Phe) n.529G>T c.886G>T (p.Val296Phe) | |
| 17 | g.42687790T>A | CA399637763 | CNTNAP1 | c.1115T>A (p.Val372Asp) n.530T>A c.887T>A (p.Val296Asp) | |
| 17 | g.42687790T>C | CA399637764 | CNTNAP1 | c.1115T>C (p.Val372Ala) n.530T>C c.887T>C (p.Val296Ala) | |
| 17 | g.42687790T>G | CA399637765 | CNTNAP1 | c.1115T>G (p.Val372Gly) n.530T>G c.887T>G (p.Val296Gly) | |
| 17 | g.42687791T>A | CA500091222 | CNTNAP1 | c.1116T>A (p.Val372=) n.531T>A c.888T>A (p.Val296=) | |
| 17 | g.42687791T>C | CA500091221 | CNTNAP1 | c.1116T>C (p.Val372=) n.531T>C c.888T>C (p.Val296=) | |
| 17 | g.42687791T>G | CA8581714 | CNTNAP1 | c.1116T>G (p.Val372=) n.531T>G c.888T>G (p.Val296=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687791T= | CA2260598539 | CNTNAP1 | c.1116T= (p.Val372=) n.531T= c.888T= (p.Val296=) | |
| 17 | g.42687792C>A | CA399637766 | CNTNAP1 | c.1117C>A (p.Gln373Lys) n.532C>A c.889C>A (p.Gln297Lys) | |
| 17 | g.42687792C>G | CA399637767 | CNTNAP1 | c.1117C>G (p.Gln373Glu) n.532C>G c.889C>G (p.Gln297Glu) | |
| 17 | g.42687792C>T | CA399637768 | CNTNAP1 | c.1117C>T (p.Gln373Ter) n.532C>T c.889C>T (p.Gln297Ter) | COSMIC |
| 17 | g.42687793A= | CA2260598540 | CNTNAP1 | c.1118A= (p.Gln373=) n.533A= c.890A= (p.Gln297=) | |
| 17 | g.42687793A>C | CA399637770 | CNTNAP1 | c.1118A>C (p.Gln373Pro) n.533A>C c.890A>C (p.Gln297Pro) | |
| 17 | g.42687793A>G | CA290793045 | CNTNAP1 | c.1118A>G (p.Gln373Arg) n.533A>G c.890A>G (p.Gln297Arg) | dbSNP |
| 17 | g.42687793A>T | CA399637769 | CNTNAP1 | c.1118A>T (p.Gln373Leu) n.533A>T c.890A>T (p.Gln297Leu) | |
| 17 | g.42687794A= | CA2260598541 | CNTNAP1 | c.1119A= (p.Gln373=) n.534A= c.891A= (p.Gln297=) | |
| 17 | g.42687794A>C | CA399637771 | CNTNAP1 | c.1119A>C (p.Gln373His) n.534A>C c.891A>C (p.Gln297His) | |
| 17 | g.42687794A>G | CA290793049 | CNTNAP1 | c.1119A>G (p.Gln373=) n.534A>G c.891A>G (p.Gln297=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687794A>T | CA399637772 | CNTNAP1 | c.1119A>T (p.Gln373His) n.534A>T c.891A>T (p.Gln297His) | |
| 17 | g.42687795G>A | CA399637774 | CNTNAP1 | c.1120G>A (p.Val374Met) n.535G>A c.892G>A (p.Val298Met) | gnomAD v4 |
| 17 | g.42687795G>C | CA399637775 | CNTNAP1 | c.1120G>C (p.Val374Leu) n.535G>C c.892G>C (p.Val298Leu) | |
| 17 | g.42687795G>T | CA399637776 | CNTNAP1 | c.1120G>T (p.Val374Leu) n.535G>T c.892G>T (p.Val298Leu) | gnomAD v4 |
| 17 | g.42687796T>A | CA399637777 | CNTNAP1 | c.1121T>A (p.Val374Glu) n.536T>A c.893T>A (p.Val298Glu) | |
| 17 | g.42687796T>C | CA399637778 | CNTNAP1 | c.1121T>C (p.Val374Ala) n.536T>C c.893T>C (p.Val298Ala) | |
| 17 | g.42687796T>G | CA399637779 | CNTNAP1 | c.1121T>G (p.Val374Gly) n.536T>G c.893T>G (p.Val298Gly) | |
| 17 | g.42687797G>A | CA500091223 | CNTNAP1 | c.1122G>A (p.Val374=) n.537G>A c.894G>A (p.Val298=) | dbSNP |
| 17 | g.42687797G>C | CA500091224 | CNTNAP1 | c.1122G>C (p.Val374=) n.537G>C c.894G>C (p.Val298=) | |
| 17 | g.42687797G>T | CA500091225 | CNTNAP1 | c.1122G>T (p.Val374=) n.537G>T c.894G>T (p.Val298=) | |
| 17 | g.42687798C>A | CA399637780 | CNTNAP1 | c.1123C>A (p.Pro375Thr) n.538C>A c.895C>A (p.Pro299Thr) | |
| 17 | g.42687798C>G | CA399637782 | CNTNAP1 | c.1123C>G (p.Pro375Ala) n.538C>G c.895C>G (p.Pro299Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42687798C>T | CA399637784 | CNTNAP1 | c.1123C>T (p.Pro375Ser) n.538C>T c.895C>T (p.Pro299Ser) | |
| 17 | g.42687799C>A | CA399637789 | CNTNAP1 | c.1124C>A (p.Pro375His) n.539C>A c.896C>A (p.Pro299His) | |
| 17 | g.42687799C>G | CA399637787 | CNTNAP1 | c.1124C>G (p.Pro375Arg) n.539C>G c.896C>G (p.Pro299Arg) | |
| 17 | g.42687799C>T | CA399637786 | CNTNAP1 | c.1124C>T (p.Pro375Leu) n.539C>T c.896C>T (p.Pro299Leu) | gnomAD v4 COSMIC |
| 17 | g.42687800C>A | CA500091228 | CNTNAP1 | c.1125C>A (p.Pro375=) n.540C>A c.897C>A (p.Pro299=) | |
| 17 | g.42687800C>G | CA500091226 | CNTNAP1 | c.1125C>G (p.Pro375=) n.540C>G c.897C>G (p.Pro299=) | |
| 17 | g.42687800C>T | CA500091227 | CNTNAP1 | c.1125C>T (p.Pro375=) n.540C>T c.897C>T (p.Pro299=) | dbSNP |
| 17 | g.42687801G>A | CA399637791 | CNTNAP1 | c.1126G>A (p.Gly376Ser) n.541G>A c.898G>A (p.Gly300Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687801G>C | CA399637792 | CNTNAP1 | c.1126G>C (p.Gly376Arg) n.541G>C c.898G>C (p.Gly300Arg) | gnomAD v4 |
| 17 | g.42687801G= | CA2260598542 | CNTNAP1 | c.1126G= (p.Gly376=) n.541G= c.898G= (p.Gly300=) | |
| 17 | g.42687801G>T | CA399637794 | CNTNAP1 | c.1126G>T (p.Gly376Cys) n.541G>T c.898G>T (p.Gly300Cys) | |
| 17 | g.42687802del | CA2576278111 | CNTNAP1 | c.1127del (p.Gly376ValfsTer?) n.542del c.899del (p.Gly300ValfsTer?) | |
| 17 | g.42687802G>A | CA399637796 | CNTNAP1 | c.1127G>A (p.Gly376Asp) n.542G>A c.899G>A (p.Gly300Asp) | |
| 17 | g.42687802G>C | CA399637797 | CNTNAP1 | c.1127G>C (p.Gly376Ala) n.542G>C c.899G>C (p.Gly300Ala) | |
| 17 | g.42687802G>T | CA399637799 | CNTNAP1 | c.1127G>T (p.Gly376Val) n.542G>T c.899G>T (p.Gly300Val) | |
| 17 | g.42687803T>A | CA500091230 | CNTNAP1 | c.1128T>A (p.Gly376=) n.543T>A c.900T>A (p.Gly300=) | |
| 17 | g.42687803T>C | CA500091231 | CNTNAP1 | c.1128T>C (p.Gly376=) n.543T>C c.900T>C (p.Gly300=) | |
| 17 | g.42687803T>G | CA500091229 | CNTNAP1 | c.1128T>G (p.Gly376=) n.543T>G c.900T>G (p.Gly300=) | |
| 17 | g.42687804T>A | CA399637804 | CNTNAP1 | c.1129T>A (p.Phe377Ile) n.544T>A c.901T>A (p.Phe301Ile) | |
| 17 | g.42687804T>C | CA399637801 | CNTNAP1 | c.1129T>C (p.Phe377Leu) n.544T>C c.901T>C (p.Phe301Leu) | |
| 17 | g.42687804T>G | CA399637802 | CNTNAP1 | c.1129T>G (p.Phe377Val) n.544T>G c.901T>G (p.Phe301Val) | |
| 17 | g.42687805T>A | CA399637806 | CNTNAP1 | c.1130T>A (p.Phe377Tyr) n.545T>A c.902T>A (p.Phe301Tyr) | |
| 17 | g.42687805T>C | CA399637808 | CNTNAP1 | c.1130T>C (p.Phe377Ser) n.545T>C c.902T>C (p.Phe301Ser) | |
| 17 | g.42687805T>G | CA399637809 | CNTNAP1 | c.1130T>G (p.Phe377Cys) n.545T>G c.902T>G (p.Phe301Cys) | |
| 17 | g.42687806C>A | CA399637812 | CNTNAP1 | c.1131C>A (p.Phe377Leu) n.546C>A c.903C>A (p.Phe301Leu) | |
| 17 | g.42687806C>G | CA399637813 | CNTNAP1 | c.1131C>G (p.Phe377Leu) n.546C>G c.903C>G (p.Phe301Leu) | |
| 17 | g.42687806C>T | CA500091232 | CNTNAP1 | c.1131C>T (p.Phe377=) n.546C>T c.903C>T (p.Phe301=) | |
| 17 | g.42687807C>A | CA290793051 | CNTNAP1 | c.1132C>A (p.Pro378Thr) n.547C>A c.904C>A (p.Pro302Thr) | dbSNP |
| 17 | g.42687807C= | CA2260598543 | CNTNAP1 | c.1132C= (p.Pro378=) n.547C= c.904C= (p.Pro302=) | |
| 17 | g.42687807C>G | CA399637815 | CNTNAP1 | c.1132C>G (p.Pro378Ala) n.547C>G c.904C>G (p.Pro302Ala) | |
| 17 | g.42687807C>T | CA399637817 | CNTNAP1 | c.1132C>T (p.Pro378Ser) n.547C>T c.904C>T (p.Pro302Ser) | gnomAD v4 |
| 17 | g.42687808C>A | CA399637820 | CNTNAP1 | c.1133C>A (p.Pro378Gln) n.548C>A c.905C>A (p.Pro302Gln) | dbSNP |
| 17 | g.42687808C>G | CA399637821 | CNTNAP1 | c.1133C>G (p.Pro378Arg) n.548C>G c.905C>G (p.Pro302Arg) | |
| 17 | g.42687808C>T | CA399637823 | CNTNAP1 | c.1133C>T (p.Pro378Leu) n.548C>T c.905C>T (p.Pro302Leu) | gnomAD v4 |
| 17 | g.42687809A>C | CA500091233 | CNTNAP1 | c.1134A>C (p.Pro378=) n.549A>C c.906A>C (p.Pro302=) | |
| 17 | g.42687809A>G | CA500091234 | CNTNAP1 | c.1134A>G (p.Pro378=) n.549A>G c.906A>G (p.Pro302=) | gnomAD v4 |
| 17 | g.42687809A>T | CA500091235 | CNTNAP1 | c.1134A>T (p.Pro378=) n.549A>T c.906A>T (p.Pro302=) | |
| 17 | g.42687810C>A | CA399637825 | CNTNAP1 | c.1135C>A (p.Arg379Ser) n.550C>A c.907C>A (p.Arg303Ser) | dbSNP gnomAD v2 |
| 17 | g.42687810C= | CA2260598544 | CNTNAP1 | c.1135C= (p.Arg379=) n.550C= c.907C= (p.Arg303=) | |
| 17 | g.42687810C>G | CA399637827 | CNTNAP1 | c.1135C>G (p.Arg379Gly) n.550C>G c.907C>G (p.Arg303Gly) | |
| 17 | g.42687810C>T | CA399637828 | CNTNAP1 | c.1135C>T (p.Arg379Cys) n.550C>T c.907C>T (p.Arg303Cys) | dbSNP gnomAD v4 |
| 17 | g.42687814_42687822del | CA2637974411 | CNTNAP1 | c.1139_1147del (p.Arg380_Arg382del) n.554_562del c.911_919del (p.Arg304_Arg306del) | gnomAD v4 |
| 17 | g.42687811G>A | CA8581715 | CNTNAP1 | c.1136G>A (p.Arg379His) n.551G>A c.908G>A (p.Arg303His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42687811G>C | CA399637831 | CNTNAP1 | c.1136G>C (p.Arg379Pro) n.551G>C c.908G>C (p.Arg303Pro) | |
| 17 | g.42687811G= | CA2260598545 | CNTNAP1 | c.1136G= (p.Arg379=) n.551G= c.908G= (p.Arg303=) | |
| 17 | g.42687811G>T | CA399637832 | CNTNAP1 | c.1136G>T (p.Arg379Leu) n.551G>T c.908G>T (p.Arg303Leu) | |
| 17 | g.42687812C>A | CA500091237 | CNTNAP1 | c.1137C>A (p.Arg379=) n.552C>A c.909C>A (p.Arg303=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687812C= | CA2260598546 | CNTNAP1 | c.1137C= (p.Arg379=) n.552C= c.909C= (p.Arg303=) | |
| 17 | g.42687812C>G | CA500091236 | CNTNAP1 | c.1137C>G (p.Arg379=) n.552C>G c.909C>G (p.Arg303=) | |
| 17 | g.42687812C>T | CA500091238 | CNTNAP1 | c.1137C>T (p.Arg379=) n.552C>T c.909C>T (p.Arg303=) | |
| 17 | g.42687813C>A | CA399637834 | CNTNAP1 | c.1138C>A (p.Arg380Ser) n.553C>A c.910C>A (p.Arg304Ser) | |
| 17 | g.42687813C>G | CA399637836 | CNTNAP1 | c.1138C>G (p.Arg380Gly) n.553C>G c.910C>G (p.Arg304Gly) | |
| 17 | g.42687813C>T | CA399637837 | CNTNAP1 | c.1138C>T (p.Arg380Cys) n.553C>T c.910C>T (p.Arg304Cys) | COSMIC |
| 17 | g.42687814G>A | CA8581716 | CNTNAP1 | c.1139G>A (p.Arg380His) n.554G>A c.911G>A (p.Arg304His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42687814G>C | CA399637842 | CNTNAP1 | c.1139G>C (p.Arg380Pro) n.554G>C c.911G>C (p.Arg304Pro) | |
| 17 | g.42687814G= | CA2260598547 | CNTNAP1 | c.1139G= (p.Arg380=) n.554G= c.911G= (p.Arg304=) | |
| 17 | g.42687814G>T | CA399637840 | CNTNAP1 | c.1139G>T (p.Arg380Leu) n.554G>T c.911G>T (p.Arg304Leu) | COSMIC |
| 17 | g.42687815T>A | CA500091240 | CNTNAP1 | c.1140T>A (p.Arg380=) n.555T>A c.912T>A (p.Arg304=) | |
| 17 | g.42687815T>C | CA500091239 | CNTNAP1 | c.1140T>C (p.Arg380=) n.555T>C c.912T>C (p.Arg304=) | |
| 17 | g.42687815T>G | CA8581717 | CNTNAP1 | c.1140T>G (p.Arg380=) n.555T>G c.912T>G (p.Arg304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687815T= | CA2260598548 | CNTNAP1 | c.1140T= (p.Arg380=) n.555T= c.912T= (p.Arg304=) | |
| 17 | g.42687816G>A | CA399637845 | CNTNAP1 | c.1141G>A (p.Gly381Ser) n.556G>A c.913G>A (p.Gly305Ser) | |
| 17 | g.42687816G>C | CA399637846 | CNTNAP1 | c.1141G>C (p.Gly381Arg) n.556G>C c.913G>C (p.Gly305Arg) | |
| 17 | g.42687816G>T | CA399637848 | CNTNAP1 | c.1141G>T (p.Gly381Cys) n.556G>T c.913G>T (p.Gly305Cys) |