| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 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=) |