UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 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) | 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) | |
| 17 | g.42687817G>A | CA399637850 | CNTNAP1 | c.1142G>A (p.Gly381Asp) n.557G>A c.914G>A (p.Gly305Asp) | dbSNP COSMIC |
| 17 | g.42687817G>C | CA399637852 | CNTNAP1 | c.1142G>C (p.Gly381Ala) n.557G>C c.914G>C (p.Gly305Ala) | dbSNP |
| 17 | g.42687817G>T | CA399637853 | CNTNAP1 | c.1142G>T (p.Gly381Val) n.557G>T c.914G>T (p.Gly305Val) | |
| 17 | g.42687818C>A | CA500091241 | CNTNAP1 | c.1143C>A (p.Gly381=) n.558C>A c.915C>A (p.Gly305=) | |
| 17 | g.42687818C= | CA2260598549 | CNTNAP1 | c.1143C= (p.Gly381=) n.558C= c.915C= (p.Gly305=) | |
| 17 | g.42687818C>G | CA290793059 | CNTNAP1 | c.1143C>G (p.Gly381=) n.558C>G c.915C>G (p.Gly305=) | dbSNP gnomAD v4 |
| 17 | g.42687818C>T | CA500091242 | CNTNAP1 | c.1143C>T (p.Gly381=) n.558C>T c.915C>T (p.Gly305=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687819C>A | CA399637856 | CNTNAP1 | c.1144C>A (p.Arg382Ser) n.559C>A c.916C>A (p.Arg306Ser) | COSMIC |
| 17 | g.42687819C>G | CA399637858 | CNTNAP1 | c.1144C>G (p.Arg382Gly) n.559C>G c.916C>G (p.Arg306Gly) | |
| 17 | g.42687819C>T | CA399637859 | CNTNAP1 | c.1144C>T (p.Arg382Cys) n.559C>T c.916C>T (p.Arg306Cys) | COSMIC |
| 17 | g.42687820G>A | CA399637865 | CNTNAP1 | c.1145G>A (p.Arg382His) n.560G>A c.917G>A (p.Arg306His) | dbSNP gnomAD v4 |
| 17 | g.42687820G>C | CA399637863 | CNTNAP1 | c.1145G>C (p.Arg382Pro) n.560G>C c.917G>C (p.Arg306Pro) | dbSNP |
| 17 | g.42687820G>T | CA399637860 | CNTNAP1 | c.1145G>T (p.Arg382Leu) n.560G>T c.917G>T (p.Arg306Leu) | gnomAD v4 |
| 17 | g.42687821C>A | CA500091243 | CNTNAP1 | c.1146C>A (p.Arg382=) n.561C>A c.918C>A (p.Arg306=) | |
| 17 | g.42687821C= | CA2260598550 | CNTNAP1 | c.1146C= (p.Arg382=) n.561C= c.918C= (p.Arg306=) | |
| 17 | g.42687821C>G | CA500091244 | CNTNAP1 | c.1146C>G (p.Arg382=) n.561C>G c.918C>G (p.Arg306=) | |
| 17 | g.42687821C>T | CA8581718 | CNTNAP1 | c.1146C>T (p.Arg382=) n.561C>T c.918C>T (p.Arg306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687822C>A | CA399637868 | CNTNAP1 | c.1147C>A (p.Leu383Met) n.562C>A c.919C>A (p.Leu307Met) | |
| 17 | g.42687822C>G | CA399637870 | CNTNAP1 | c.1147C>G (p.Leu383Val) n.562C>G c.919C>G (p.Leu307Val) | |
| 17 | g.42687822C>T | CA500091245 | CNTNAP1 | c.1147C>T (p.Leu383=) n.562C>T c.919C>T (p.Leu307=) | |
| 17 | g.42687823T>A | CA399637872 | CNTNAP1 | c.1148T>A (p.Leu383Gln) n.563T>A c.920T>A (p.Leu307Gln) | |
| 17 | g.42687823T>C | CA399637873 | CNTNAP1 | c.1148T>C (p.Leu383Pro) n.563T>C c.920T>C (p.Leu307Pro) | |
| 17 | g.42687823T>G | CA399637875 | CNTNAP1 | c.1148T>G (p.Leu383Arg) n.563T>G c.920T>G (p.Leu307Arg) | |
| 17 | g.42687824G>A | CA500091248 | CNTNAP1 | c.1149G>A (p.Leu383=) n.564G>A c.921G>A (p.Leu307=) | |
| 17 | g.42687824G>C | CA500091246 | CNTNAP1 | c.1149G>C (p.Leu383=) n.564G>C c.921G>C (p.Leu307=) | |
| 17 | g.42687824G>T | CA500091247 | CNTNAP1 | c.1149G>T (p.Leu383=) n.564G>T c.921G>T (p.Leu307=) | |
| 17 | g.42687825G>A | CA399637877 | CNTNAP1 | c.1150G>A (p.Ala384Thr) n.565G>A c.922G>A (p.Ala308Thr) | |
| 17 | g.42687825G>C | CA399637878 | CNTNAP1 | c.1150G>C (p.Ala384Pro) n.565G>C c.922G>C (p.Ala308Pro) | |
| 17 | g.42687825G>T | CA399637879 | CNTNAP1 | c.1150G>T (p.Ala384Ser) n.565G>T c.922G>T (p.Ala308Ser) | |
| 17 | g.42687826C>A | CA399637881 | CNTNAP1 | c.1151C>A (p.Ala384Glu) n.566C>A c.923C>A (p.Ala308Glu) | dbSNP |
| 17 | g.42687826C>G | CA399637882 | CNTNAP1 | c.1151C>G (p.Ala384Gly) n.566C>G c.923C>G (p.Ala308Gly) | |
| 17 | g.42687826C>T | CA399637884 | CNTNAP1 | c.1151C>T (p.Ala384Val) n.566C>T c.923C>T (p.Ala308Val) | |
| 17 | g.42687827A>C | CA500091250 | CNTNAP1 | c.1152A>C (p.Ala384=) n.567A>C c.924A>C (p.Ala308=) | |
| 17 | g.42687827A>G | CA500091251 | CNTNAP1 | c.1152A>G (p.Ala384=) n.567A>G c.924A>G (p.Ala308=) | |
| 17 | g.42687827A>T | CA500091249 | CNTNAP1 | c.1152A>T (p.Ala384=) n.567A>T c.924A>T (p.Ala308=) | |
| 17 | g.42687828G>A | CA399637887 | CNTNAP1 | c.1153G>A (p.Val385Ile) n.568G>A c.925G>A (p.Val309Ile) | dbSNP |
| 17 | g.42687828G>C | CA8581719 | CNTNAP1 | c.1153G>C (p.Val385Leu) n.568G>C c.925G>C (p.Val309Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687828G= | CA2260598551 | CNTNAP1 | c.1153G= (p.Val385=) n.568G= c.925G= (p.Val309=) | |
| 17 | g.42687828G>T | CA399637886 | CNTNAP1 | c.1153G>T (p.Val385Phe) n.568G>T c.925G>T (p.Val309Phe) | |
| 17 | g.42687829T>A | CA399637892 | CNTNAP1 | c.1154T>A (p.Val385Asp) n.569T>A c.926T>A (p.Val309Asp) | |
| 17 | g.42687829T>C | CA399637890 | CNTNAP1 | c.1154T>C (p.Val385Ala) n.569T>C c.926T>C (p.Val309Ala) | gnomAD v4 COSMIC |
| 17 | g.42687829T>G | CA399637894 | CNTNAP1 | c.1154T>G (p.Val385Gly) n.569T>G c.926T>G (p.Val309Gly) | |
| 17 | g.42687830C>A | CA500091254 | CNTNAP1 | c.1155C>A (p.Val385=) n.570C>A c.927C>A (p.Val309=) | |
| 17 | g.42687830C= | CA2260598552 | CNTNAP1 | c.1155C= (p.Val385=) n.570C= c.927C= (p.Val309=) | |
| 17 | g.42687830C>G | CA500091252 | CNTNAP1 | c.1155C>G (p.Val385=) n.570C>G c.927C>G (p.Val309=) | |
| 17 | g.42687830C>T | CA500091253 | CNTNAP1 | c.1155C>T (p.Val385=) n.570C>T c.927C>T (p.Val309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687831T>A | CA399637896 | CNTNAP1 | c.1156T>A (p.Ser386Thr) n.571T>A c.928T>A (p.Ser310Thr) | |
| 17 | g.42687831T>C | CA399637897 | CNTNAP1 | c.1156T>C (p.Ser386Pro) n.571T>C c.928T>C (p.Ser310Pro) | |
| 17 | g.42687831T>G | CA399637898 | CNTNAP1 | c.1156T>G (p.Ser386Ala) n.571T>G c.928T>G (p.Ser310Ala) | |
| 17 | g.42687832C>A | CA399637900 | CNTNAP1 | c.1157C>A (p.Ser386Ter) n.572C>A c.929C>A (p.Ser310Ter) | |
| 17 | g.42687832C>G | CA399637902 | CNTNAP1 | c.1157C>G (p.Ser386Ter) n.572C>G c.929C>G (p.Ser310Ter) | |
| 17 | g.42687832C>T | CA399637903 | CNTNAP1 | c.1157C>T (p.Ser386Leu) n.572C>T c.929C>T (p.Ser310Leu) | |
| 17 | g.42687833A= | CA2260598553 | CNTNAP1 | c.1158A= (p.Ser386=) n.573A= c.930A= (p.Ser310=) | |
| 17 | g.42687833A>C | CA500091255 | CNTNAP1 | c.1158A>C (p.Ser386=) n.573A>C c.930A>C (p.Ser310=) | gnomAD v4 |
| 17 | g.42687833A>G | CA8581720 | CNTNAP1 | c.1158A>G (p.Ser386=) n.573A>G c.930A>G (p.Ser310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687833A>T | CA500091256 | CNTNAP1 | c.1158A>T (p.Ser386=) n.573A>T c.930A>T (p.Ser310=) | |
| 17 | g.42687833_42687834insGCTGGGAATTCAGT | CA2733741104 | CNTNAP1 | c.1158_1159insGCTGGGAATTCAGT (p.Phe387AlafsTer31) n.573_574insGCTGGGAATTCAGT c.930_931insGCTGGGAATTCAGT (p.Phe311AlafsTer31) | dbSNP |
| 17 | g.42687834T>A | CA399637906 | CNTNAP1 | c.1159T>A (p.Phe387Ile) n.574T>A c.931T>A (p.Phe311Ile) | |
| 17 | g.42687834T>C | CA399637908 | CNTNAP1 | c.1159T>C (p.Phe387Leu) n.574T>C c.931T>C (p.Phe311Leu) | |
| 17 | g.42687834T>G | CA399637910 | CNTNAP1 | c.1159T>G (p.Phe387Val) n.574T>G c.931T>G (p.Phe311Val) | |
| 17 | g.42687835T>A | CA399637912 | CNTNAP1 | c.1160T>A (p.Phe387Tyr) n.575T>A c.932T>A (p.Phe311Tyr) | |
| 17 | g.42687835T>C | CA399637914 | CNTNAP1 | c.1160T>C (p.Phe387Ser) n.575T>C c.932T>C (p.Phe311Ser) | gnomAD v4 |
| 17 | g.42687835T>G | CA399637915 | CNTNAP1 | c.1160T>G (p.Phe387Cys) n.575T>G c.932T>G (p.Phe311Cys) | |
| 17 | g.42687836T>A | CA399637917 | CNTNAP1 | c.1161T>A (p.Phe387Leu) n.576T>A c.933T>A (p.Phe311Leu) | |
| 17 | g.42687836T>C | CA500091280 | CNTNAP1 | c.1161T>C (p.Phe387=) n.576T>C c.933T>C (p.Phe311=) | |
| 17 | g.42687836T>G | CA399637918 | CNTNAP1 | c.1161T>G (p.Phe387Leu) n.576T>G c.933T>G (p.Phe311Leu) | |
| 17 | g.42687837C>A | CA8581721 | CNTNAP1 | c.1162C>A (p.Arg388Ser) n.577C>A c.934C>A (p.Arg312Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687837C= | CA2260598554 | CNTNAP1 | c.1162C= (p.Arg388=) n.577C= c.934C= (p.Arg312=) | |
| 17 | g.42687837C>G | CA399637922 | CNTNAP1 | c.1162C>G (p.Arg388Gly) n.577C>G c.934C>G (p.Arg312Gly) | |
| 17 | g.42687837C>T | CA290793075 | CNTNAP1 | c.1162C>T (p.Arg388Cys) n.577C>T c.934C>T (p.Arg312Cys) | dbSNP gnomAD v4 |
| 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 |