| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153869818C>A | CA415130399 | L1CAM | c.1108G>T (p.Gly370Trp) c.1093G>T (p.Gly365Trp) | gnomAD v4 |
| X | g.153869818C= | CA2466506931 | L1CAM | c.1108G= (p.Gly370=) c.1093G= (p.Gly365=) | |
| X | g.153869818C>G | CA415130400 | L1CAM | c.1108G>C (p.Gly370Arg) c.1093G>C (p.Gly365Arg) | |
| X | g.153869818C>T | CA254962 | L1CAM | c.1108G>A (p.Gly370Arg) c.1093G>A (p.Gly365Arg) | ClinVar dbSNP |
| X | g.153869819G>A | CA10554436 | L1CAM | c.1107C>T (p.Asn369=) c.1092C>T (p.Asn364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153869819G>C | CA415130401 | L1CAM | c.1107C>G (p.Asn369Lys) c.1092C>G (p.Asn364Lys) | |
| X | g.153869819G= | CA2466506932 | L1CAM | c.1107C= (p.Asn369=) c.1092C= (p.Asn364=) | |
| X | g.153869819G>T | CA415130404 | L1CAM | c.1107C>A (p.Asn369Lys) c.1092C>A (p.Asn364Lys) | |
| X | g.153869820T>A | CA415130407 | L1CAM | c.1106A>T (p.Asn369Ile) c.1091A>T (p.Asn364Ile) | |
| X | g.153869820T>C | CA415130410 | L1CAM | c.1106A>G (p.Asn369Ser) c.1091A>G (p.Asn364Ser) | |
| X | g.153869820T>G | CA415130412 | L1CAM | c.1106A>C (p.Asn369Thr) c.1091A>C (p.Asn364Thr) | |
| X | g.153869821T>A | CA415130415 | L1CAM | c.1105A>T (p.Asn369Tyr) c.1090A>T (p.Asn364Tyr) | |
| X | g.153869821T>C | CA415130423 | L1CAM | c.1105A>G (p.Asn369Asp) c.1090A>G (p.Asn364Asp) | |
| X | g.153869821T>G | CA415130431 | L1CAM | c.1105A>C (p.Asn369His) c.1090A>C (p.Asn364His) | |
| X | g.153869822G>A | CA519343922 | L1CAM | c.1104C>T (p.Ile368=) c.1089C>T (p.Ile363=) | gnomAD v4 |
| X | g.153869822G>C | CA415130434 | L1CAM | c.1104C>G (p.Ile368Met) c.1089C>G (p.Ile363Met) | |
| X | g.153869822G>T | CA519343923 | L1CAM | c.1104C>A (p.Ile368=) c.1089C>A (p.Ile363=) | |
| X | g.153869823A>C | CA415130437 | L1CAM | c.1103T>G (p.Ile368Ser) c.1088T>G (p.Ile363Ser) | |
| X | g.153869823A>G | CA415130440 | L1CAM | c.1103T>C (p.Ile368Thr) c.1088T>C (p.Ile363Thr) | |
| X | g.153869823A>T | CA415130447 | L1CAM | c.1103T>A (p.Ile368Asn) c.1088T>A (p.Ile363Asn) | ClinVar dbSNP |
| X | g.153869824T>A | CA415130450 | L1CAM | c.1102A>T (p.Ile368Phe) c.1087A>T (p.Ile363Phe) | |
| X | g.153869824T>C | CA415130453 | L1CAM | c.1102A>G (p.Ile368Val) c.1087A>G (p.Ile363Val) | |
| X | g.153869824T>G | CA415130461 | L1CAM | c.1102A>C (p.Ile368Leu) c.1087A>C (p.Ile363Leu) | |
| X | g.153869825T>A | CA415130466 | L1CAM | c.1101A>T (p.Arg367Ser) c.1086A>T (p.Arg362Ser) | |
| X | g.153869825T>C | CA519343924 | L1CAM | c.1101A>G (p.Arg367=) c.1086A>G (p.Arg362=) | ClinVar gnomAD v4 |
| X | g.153869825T>G | CA415130469 | L1CAM | c.1101A>C (p.Arg367Ser) c.1086A>C (p.Arg362Ser) | |
| X | g.153869826C>A | CA415130492 | L1CAM | c.1100G>T (p.Arg367Ile) c.1085G>T (p.Arg362Ile) | |
| X | g.153869826C= | CA2466506933 | L1CAM | c.1100G= (p.Arg367=) c.1085G= (p.Arg362=) | |
| X | g.153869826C>G | CA415130493 | L1CAM | c.1100G>C (p.Arg367Thr) c.1085G>C (p.Arg362Thr) | |
| X | g.153869826C>T | CA415130494 | L1CAM | c.1100G>A (p.Arg367Lys) c.1085G>A (p.Arg362Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.153869827T>A | CA415130495 | L1CAM | c.1099A>T (p.Arg367Ter) c.1084A>T (p.Arg362Ter) | |
| X | g.153869827T>C | CA415130498 | L1CAM | c.1099A>G (p.Arg367Gly) c.1084A>G (p.Arg362Gly) | |
| X | g.153869827T>G | CA519343925 | L1CAM | c.1099A>C (p.Arg367=) c.1084A>C (p.Arg362=) | |
| X | g.153869828C>A | CA415130500 | L1CAM | c.1098G>T (p.Trp366Cys) c.1083G>T (p.Trp361Cys) | |
| X | g.153869828C>G | CA415130502 | L1CAM | c.1098G>C (p.Trp366Cys) c.1083G>C (p.Trp361Cys) | |
| X | g.153869828C>T | CA415130503 | L1CAM | c.1098G>A (p.Trp366Ter) c.1083G>A (p.Trp361Ter) | |
| X | g.153869829C>A | CA415130507 | L1CAM | c.1097G>T (p.Trp366Leu) c.1082G>T (p.Trp361Leu) | |
| X | g.153869829C>G | CA415130508 | L1CAM | c.1097G>C (p.Trp366Ser) c.1082G>C (p.Trp361Ser) | |
| X | g.153869829C>T | CA415130510 | L1CAM | c.1097G>A (p.Trp366Ter) c.1082G>A (p.Trp361Ter) | |
| X | g.153869830A>C | CA415130513 | L1CAM | c.1096T>G (p.Trp366Gly) c.1081T>G (p.Trp361Gly) | |
| X | g.153869830A>G | CA415130514 | L1CAM | c.1096T>C (p.Trp366Arg) c.1081T>C (p.Trp361Arg) | |
| X | g.153869830A>T | CA415130518 | L1CAM | c.1096T>A (p.Trp366Arg) c.1081T>A (p.Trp361Arg) | |
| X | g.153869831G>A | CA519343928 | L1CAM | c.1095C>T (p.Thr365=) c.1080C>T (p.Thr360=) | |
| X | g.153869831G>C | CA519343926 | L1CAM | c.1095C>G (p.Thr365=) c.1080C>G (p.Thr360=) | |
| X | g.153869831G>T | CA519343927 | L1CAM | c.1095C>A (p.Thr365=) c.1080C>A (p.Thr360=) | |
| X | g.153869832G>A | CA415130530 | L1CAM | c.1094C>T (p.Thr365Ile) c.1079C>T (p.Thr360Ile) | |
| X | g.153869832G>C | CA415130533 | L1CAM | c.1094C>G (p.Thr365Ser) c.1079C>G (p.Thr360Ser) | |
| X | g.153869832G>T | CA415130541 | L1CAM | c.1094C>A (p.Thr365Asn) c.1079C>A (p.Thr360Asn) | |
| X | g.153869833T>A | CA415130554 | L1CAM | c.1093A>T (p.Thr365Ser) c.1078A>T (p.Thr360Ser) | |
| X | g.153869833T>C | CA415130549 | L1CAM | c.1093A>G (p.Thr365Ala) c.1078A>G (p.Thr360Ala) |