| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 17 | g.42687838G>A | CA399637923 | CNTNAP1 | c.1163G>A (p.Arg388His) n.578G>A c.935G>A (p.Arg312His) | |
| 17 | g.42687838G>C | CA8581722 | CNTNAP1 | c.1163G>C (p.Arg388Pro) n.578G>C c.935G>C (p.Arg312Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687838G= | CA2260598555 | CNTNAP1 | c.1163G= (p.Arg388=) n.578G= c.935G= (p.Arg312=) | |
| 17 | g.42687838G>T | CA399637926 | CNTNAP1 | c.1163G>T (p.Arg388Leu) n.578G>T c.935G>T (p.Arg312Leu) | dbSNP |
| 17 | g.42687839C>A | CA500091282 | CNTNAP1 | c.1164C>A (p.Arg388=) n.579C>A c.936C>A (p.Arg312=) | |
| 17 | g.42687839C= | CA2260598556 | CNTNAP1 | c.1164C= (p.Arg388=) n.579C= c.936C= (p.Arg312=) | |
| 17 | g.42687839C>G | CA500091283 | CNTNAP1 | c.1164C>G (p.Arg388=) n.579C>G c.936C>G (p.Arg312=) | |
| 17 | g.42687839C>T | CA8581723 | CNTNAP1 | c.1164C>T (p.Arg388=) n.579C>T c.936C>T (p.Arg312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687840T>A | CA399637927 | CNTNAP1 | c.1165T>A (p.Phe389Ile) n.580T>A c.937T>A (p.Phe313Ile) | |
| 17 | g.42687840T>C | CA399637928 | CNTNAP1 | c.1165T>C (p.Phe389Leu) n.580T>C c.937T>C (p.Phe313Leu) | |
| 17 | g.42687840T>G | CA399637930 | CNTNAP1 | c.1165T>G (p.Phe389Val) n.580T>G c.937T>G (p.Phe313Val) | |
| 17 | g.42687841T>A | CA399637932 | CNTNAP1 | c.1166T>A (p.Phe389Tyr) n.581T>A c.938T>A (p.Phe313Tyr) | |
| 17 | g.42687841T>C | CA399637934 | CNTNAP1 | c.1166T>C (p.Phe389Ser) n.581T>C c.938T>C (p.Phe313Ser) | |
| 17 | g.42687841T>G | CA399637936 | CNTNAP1 | c.1166T>G (p.Phe389Cys) n.581T>G c.938T>G (p.Phe313Cys) | |
| 17 | g.42687842C>A | CA399637938 | CNTNAP1 | c.1167C>A (p.Phe389Leu) n.582C>A c.939C>A (p.Phe313Leu) | |
| 17 | g.42687842C= | CA2260598557 | CNTNAP1 | c.1167C= (p.Phe389=) n.582C= c.939C= (p.Phe313=) | |
| 17 | g.42687842C>G | CA399637941 | CNTNAP1 | c.1167C>G (p.Phe389Leu) n.582C>G c.939C>G (p.Phe313Leu) | |
| 17 | g.42687842C>T | CA8581724 | CNTNAP1 | c.1167C>T (p.Phe389=) n.582C>T c.939C>T (p.Phe313=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687843C>A | CA399637943 | CNTNAP1 | c.1168C>A (p.Arg390Ser) n.583C>A c.940C>A (p.Arg314Ser) | |
| 17 | g.42687843C>G | CA399637944 | CNTNAP1 | c.1168C>G (p.Arg390Gly) n.583C>G c.940C>G (p.Arg314Gly) | |
| 17 | g.42687843C>T | CA399637946 | CNTNAP1 | c.1168C>T (p.Arg390Cys) n.583C>T c.940C>T (p.Arg314Cys) | gnomAD v4 |
| 17 | g.42687844G>A | CA399637948 | CNTNAP1 | c.1169G>A (p.Arg390His) n.584G>A c.941G>A (p.Arg314His) | |
| 17 | g.42687844G>C | CA399637950 | CNTNAP1 | c.1169G>C (p.Arg390Pro) n.584G>C c.941G>C (p.Arg314Pro) | |
| 17 | g.42687844G>T | CA399637951 | CNTNAP1 | c.1169G>T (p.Arg390Leu) n.584G>T c.941G>T (p.Arg314Leu) | |
| 17 | g.42687845C>A | CA500091287 | CNTNAP1 | c.1170C>A (p.Arg390=) n.585C>A c.942C>A (p.Arg314=) | |
| 17 | g.42687845C>G | CA500091289 | CNTNAP1 | c.1170C>G (p.Arg390=) n.585C>G c.942C>G (p.Arg314=) | |
| 17 | g.42687845C>T | CA500091288 | CNTNAP1 | c.1170C>T (p.Arg390=) n.585C>T c.942C>T (p.Arg314=) | gnomAD v4 |
| 17 | g.42687846A>C | CA399637953 | CNTNAP1 | c.1171A>C (p.Thr391Pro) n.586A>C c.943A>C (p.Thr315Pro) | gnomAD v4 |
| 17 | g.42687846A>G | CA399637954 | CNTNAP1 | c.1171A>G (p.Thr391Ala) n.586A>G c.943A>G (p.Thr315Ala) | |
| 17 | g.42687846A>T | CA399637956 | CNTNAP1 | c.1171A>T (p.Thr391Ser) n.586A>T c.943A>T (p.Thr315Ser) | gnomAD v4 |
| 17 | g.42687847C>A | CA399637958 | CNTNAP1 | c.1172C>A (p.Thr391Asn) n.587C>A c.944C>A (p.Thr315Asn) | |
| 17 | g.42687847C>G | CA399637959 | CNTNAP1 | c.1172C>G (p.Thr391Ser) n.587C>G c.944C>G (p.Thr315Ser) | |
| 17 | g.42687847C>T | CA399637961 | CNTNAP1 | c.1172C>T (p.Thr391Ile) n.587C>T c.944C>T (p.Thr315Ile) | |
| 17 | g.42687848C>A | CA500091292 | CNTNAP1 | c.1173C>A (p.Thr391=) n.588C>A c.945C>A (p.Thr315=) | |
| 17 | g.42687848C= | CA2260598558 | CNTNAP1 | c.1173C= (p.Thr391=) n.588C= c.945C= (p.Thr315=) | |
| 17 | g.42687848C>G | CA8581726 | CNTNAP1 | c.1173C>G (p.Thr391=) n.588C>G c.945C>G (p.Thr315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687848C>T | CA8581725 | CNTNAP1 | c.1173C>T (p.Thr391=) n.588C>T c.945C>T (p.Thr315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687849T>A | CA399637965 | CNTNAP1 | c.1174T>A (p.Trp392Arg) n.589T>A c.946T>A (p.Trp316Arg) | |
| 17 | g.42687849T>C | CA399637967 | CNTNAP1 | c.1174T>C (p.Trp392Arg) n.589T>C c.946T>C (p.Trp316Arg) | |
| 17 | g.42687849T>G | CA399637968 | CNTNAP1 | c.1174T>G (p.Trp392Gly) n.589T>G c.946T>G (p.Trp316Gly) | gnomAD v4 |
| 17 | g.42687850G>A | CA399637971 | CNTNAP1 | c.1175G>A (p.Trp392Ter) n.590G>A c.947G>A (p.Trp316Ter) | gnomAD v4 |
| 17 | g.42687850G>C | CA399637972 | CNTNAP1 | c.1175G>C (p.Trp392Ser) n.590G>C c.947G>C (p.Trp316Ser) | |
| 17 | g.42687850G>T | CA399637974 | CNTNAP1 | c.1175G>T (p.Trp392Leu) n.590G>T c.947G>T (p.Trp316Leu) | |
| 17 | g.42687851G>A | CA399637976 | CNTNAP1 | c.1176G>A (p.Trp392Ter) n.591G>A c.948G>A (p.Trp316Ter) | |
| 17 | g.42687851G>C | CA399637978 | CNTNAP1 | c.1176G>C (p.Trp392Cys) n.591G>C c.948G>C (p.Trp316Cys) | |
| 17 | g.42687851G>T | CA399637979 | CNTNAP1 | c.1176G>T (p.Trp392Cys) n.591G>T c.948G>T (p.Trp316Cys) | |
| 17 | g.42687852G>A | CA399637981 | CNTNAP1 | c.1177G>A (p.Asp393Asn) n.592G>A c.949G>A (p.Asp317Asn) | |
| 17 | g.42687852G>C | CA399637983 | CNTNAP1 | c.1177G>C (p.Asp393His) n.592G>C c.949G>C (p.Asp317His) | gnomAD v4 |
| 17 | g.42687852G= | CA2260598559 | CNTNAP1 | c.1177G= (p.Asp393=) n.592G= c.949G= (p.Asp317=) |