| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153863484C>A | CA415108338 | L1CAM | c.3523G>T (p.Glu1175Ter) c.3508G>T (p.Glu1170Ter) c.223G>T (p.Glu75Ter) n.486G>T | |
| X | g.153863484C= | CA2466504676 | L1CAM | c.3523G= (p.Glu1175=) c.3508G= (p.Glu1170=) c.223G= (p.Glu75=) n.486G= | |
| X | g.153863484C>G | CA415108361 | L1CAM | c.3523G>C (p.Glu1175Gln) c.3508G>C (p.Glu1170Gln) c.223G>C (p.Glu75Gln) n.486G>C | |
| X | g.153863484C>T | CA16621229 | L1CAM | c.3523G>A (p.Glu1175Lys) c.3508G>A (p.Glu1170Lys) c.223G>A (p.Glu75Lys) n.486G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153863485G>A | CA519199586 | L1CAM | c.3522C>T (p.Gly1174=) c.3507C>T (p.Gly1169=) c.222C>T (p.Gly74=) n.485C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153863485G>C | CA519199591 | L1CAM | c.3522C>G (p.Gly1174=) c.3507C>G (p.Gly1169=) c.222C>G (p.Gly74=) n.485C>G | ClinVar dbSNP gnomAD v4 |
| X | g.153863485G= | CA2466504677 | L1CAM | c.3522C= (p.Gly1174=) c.3507C= (p.Gly1169=) c.222C= (p.Gly74=) n.485C= | |
| X | g.153863485G>T | CA519199594 | L1CAM | c.3522C>A (p.Gly1174=) c.3507C>A (p.Gly1169=) c.222C>A (p.Gly74=) n.485C>A | |
| X | g.153863486C>A | CA415108373 | L1CAM | c.3521G>T (p.Gly1174Val) c.3506G>T (p.Gly1169Val) c.221G>T (p.Gly74Val) n.484G>T | gnomAD v4 |
| X | g.153863486C>G | CA415108375 | L1CAM | c.3521G>C (p.Gly1174Ala) c.3506G>C (p.Gly1169Ala) c.221G>C (p.Gly74Ala) n.484G>C | |
| X | g.153863486C>T | CA415108379 | L1CAM | c.3521G>A (p.Gly1174Asp) c.3506G>A (p.Gly1169Asp) c.221G>A (p.Gly74Asp) n.484G>A | |
| X | g.153863487C>A | CA415108385 | L1CAM | c.3520G>T (p.Gly1174Cys) c.3505G>T (p.Gly1169Cys) c.220G>T (p.Gly74Cys) n.483G>T | |
| X | g.153863487C= | CA2466504678 | L1CAM | c.3520G= (p.Gly1174=) c.3505G= (p.Gly1169=) c.220G= (p.Gly74=) n.483G= | |
| X | g.153863487C>G | CA415108389 | L1CAM | c.3520G>C (p.Gly1174Arg) c.3505G>C (p.Gly1169Arg) c.220G>C (p.Gly74Arg) n.483G>C | |
| X | g.153863487C>T | CA10553940 | L1CAM | c.3520G>A (p.Gly1174Ser) c.3505G>A (p.Gly1169Ser) c.220G>A (p.Gly74Ser) n.483G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153863488G>A | CA180149 | L1CAM | c.3519C>T (p.Phe1173=) c.3504C>T (p.Phe1168=) c.219C>T (p.Phe73=) n.482C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153863488G>C | CA415108403 | L1CAM | c.3519C>G (p.Phe1173Leu) c.3504C>G (p.Phe1168Leu) c.219C>G (p.Phe73Leu) n.482C>G | |
| X | g.153863488G= | CA2466504679 | L1CAM | c.3519C= (p.Phe1173=) c.3504C= (p.Phe1168=) c.219C= (p.Phe73=) n.482C= | |
| X | g.153863488G>T | CA415108421 | L1CAM | c.3519C>A (p.Phe1173Leu) c.3504C>A (p.Phe1168Leu) c.219C>A (p.Phe73Leu) n.482C>A | |
| X | g.153863489A>C | CA415108427 | L1CAM | c.3518T>G (p.Phe1173Cys) c.3503T>G (p.Phe1168Cys) c.218T>G (p.Phe73Cys) n.481T>G | |
| X | g.153863489A>G | CA415108430 | L1CAM | c.3518T>C (p.Phe1173Ser) c.3503T>C (p.Phe1168Ser) c.218T>C (p.Phe73Ser) n.481T>C | |
| X | g.153863489A>T | CA415108433 | L1CAM | c.3518T>A (p.Phe1173Tyr) c.3503T>A (p.Phe1168Tyr) c.218T>A (p.Phe73Tyr) n.481T>A | |
| X | g.153863490A>C | CA415108439 | L1CAM | c.3517T>G (p.Phe1173Val) c.3502T>G (p.Phe1168Val) c.217T>G (p.Phe73Val) n.480T>G | |
| X | g.153863490A>G | CA415108442 | L1CAM | c.3517T>C (p.Phe1173Leu) c.3502T>C (p.Phe1168Leu) c.217T>C (p.Phe73Leu) n.480T>C | |
| X | g.153863490A>T | CA415108440 | L1CAM | c.3517T>A (p.Phe1173Ile) c.3502T>A (p.Phe1168Ile) c.217T>A (p.Phe73Ile) n.480T>A | |
| X | g.153863491G>A | CA519199622 | L1CAM | c.3516C>T (p.Thr1172=) c.3501C>T (p.Thr1167=) c.216C>T (p.Thr72=) n.479C>T | COSMIC |
| X | g.153863491G>C | CA519199623 | L1CAM | c.3516C>G (p.Thr1172=) c.3501C>G (p.Thr1167=) c.216C>G (p.Thr72=) n.479C>G | |
| X | g.153863491G>T | CA519199625 | L1CAM | c.3516C>A (p.Thr1172=) c.3501C>A (p.Thr1167=) c.216C>A (p.Thr72=) n.479C>A | |
| X | g.153863492G>A | CA415108444 | L1CAM | c.3515C>T (p.Thr1172Ile) c.3500C>T (p.Thr1167Ile) c.215C>T (p.Thr72Ile) n.478C>T | |
| X | g.153863492G>C | CA415108446 | L1CAM | c.3515C>G (p.Thr1172Ser) c.3500C>G (p.Thr1167Ser) c.215C>G (p.Thr72Ser) n.478C>G | |
| X | g.153863492G>T | CA415108450 | L1CAM | c.3515C>A (p.Thr1172Asn) c.3500C>A (p.Thr1167Asn) c.215C>A (p.Thr72Asn) n.478C>A | |
| X | g.153863493T>A | CA415108456 | L1CAM | c.3514A>T (p.Thr1172Ser) c.3499A>T (p.Thr1167Ser) c.214A>T (p.Thr72Ser) n.477A>T | |
| X | g.153863493T>C | CA415108466 | L1CAM | c.3514A>G (p.Thr1172Ala) c.3499A>G (p.Thr1167Ala) c.214A>G (p.Thr72Ala) n.477A>G | |
| X | g.153863493T>G | CA415108469 | L1CAM | c.3514A>C (p.Thr1172Pro) c.3499A>C (p.Thr1167Pro) c.214A>C (p.Thr72Pro) n.477A>C | |
| X | g.153863494C>A | CA415108477 | L1CAM | c.3513G>T (p.Glu1171Asp) c.3498G>T (p.Glu1166Asp) c.213G>T (p.Glu71Asp) n.476G>T | |
| X | g.153863494C>G | CA415108481 | L1CAM | c.3513G>C (p.Glu1171Asp) c.3498G>C (p.Glu1166Asp) c.213G>C (p.Glu71Asp) n.476G>C | |
| X | g.153863494C>T | CA519199651 | L1CAM | c.3513G>A (p.Glu1171=) c.3498G>A (p.Glu1166=) c.213G>A (p.Glu71=) n.476G>A | gnomAD v3 gnomAD v4 |
| X | g.153863495T>A | CA415108496 | L1CAM | c.3512A>T (p.Glu1171Val) c.3497A>T (p.Glu1166Val) c.212A>T (p.Glu71Val) n.475A>T | |
| X | g.153863495T>C | CA415108490 | L1CAM | c.3512A>G (p.Glu1171Gly) c.3497A>G (p.Glu1166Gly) c.212A>G (p.Glu71Gly) n.475A>G | |
| X | g.153863495T>G | CA415108486 | L1CAM | c.3512A>C (p.Glu1171Ala) c.3497A>C (p.Glu1166Ala) c.212A>C (p.Glu71Ala) n.475A>C | |
| X | g.153863496C>A | CA415108499 | L1CAM | c.3511G>T (p.Glu1171Ter) c.3496G>T (p.Glu1166Ter) c.211G>T (p.Glu71Ter) n.474G>T | |
| X | g.153863496C>G | CA415108501 | L1CAM | c.3511G>C (p.Glu1171Gln) c.3496G>C (p.Glu1166Gln) c.211G>C (p.Glu71Gln) n.474G>C | |
| X | g.153863496C>T | CA415108507 | L1CAM | c.3511G>A (p.Glu1171Lys) c.3496G>A (p.Glu1166Lys) c.211G>A (p.Glu71Lys) n.474G>A | |
| X | g.153863497A>C | CA415108513 | L1CAM | c.3510T>G (p.Asp1170Glu) c.3495T>G (p.Asp1165Glu) c.210T>G (p.Asp70Glu) n.473T>G | gnomAD v4 |
| X | g.153863497A>G | CA519199665 | L1CAM | c.3510T>C (p.Asp1170=) c.3495T>C (p.Asp1165=) c.210T>C (p.Asp70=) n.473T>C | |
| X | g.153863497A>T | CA415108517 | L1CAM | c.3510T>A (p.Asp1170Glu) c.3495T>A (p.Asp1165Glu) c.210T>A (p.Asp70Glu) n.473T>A | |
| X | g.153863498T>A | CA415108524 | L1CAM | c.3509A>T (p.Asp1170Val) c.3494A>T (p.Asp1165Val) c.209A>T (p.Asp70Val) n.472A>T | |
| X | g.153863498T>C | CA415108528 | L1CAM | c.3509A>G (p.Asp1170Gly) c.3494A>G (p.Asp1165Gly) c.209A>G (p.Asp70Gly) n.472A>G | |
| X | g.153863498T>G | CA415108534 | L1CAM | c.3509A>C (p.Asp1170Ala) c.3494A>C (p.Asp1165Ala) c.209A>C (p.Asp70Ala) n.472A>C | |
| X | g.153863499C>A | CA415108539 | L1CAM | c.3508G>T (p.Asp1170Tyr) c.3493G>T (p.Asp1165Tyr) c.208G>T (p.Asp70Tyr) n.471G>T |