Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
X | g.153863499C>G | CA415108544 | L1CAM | c.3508G>C (p.Asp1170His) c.3493G>C (p.Asp1165His) c.208G>C (p.Asp70His) n.471G>C | |
X | g.153863499C>T | CA415108545 | L1CAM | c.3508G>A (p.Asp1170Asn) c.3493G>A (p.Asp1165Asn) c.208G>A (p.Asp70Asn) n.471G>A | |
X | g.153863500T>A | CA415108547 | L1CAM | c.3507A>T (p.Lys1169Asn) c.3492A>T (p.Lys1164Asn) c.207A>T (p.Lys69Asn) n.470A>T | |
X | g.153863500T>C | CA519199698 | L1CAM | c.3507A>G (p.Lys1169=) c.3492A>G (p.Lys1164=) c.207A>G (p.Lys69=) n.470A>G | gnomAD v4 |
X | g.153863500T>G | CA415108548 | L1CAM | c.3507A>C (p.Lys1169Asn) c.3492A>C (p.Lys1164Asn) c.207A>C (p.Lys69Asn) n.470A>C | |
X | g.153863501T>A | CA415108550 | L1CAM | c.3506A>T (p.Lys1169Ile) c.3491A>T (p.Lys1164Ile) c.206A>T (p.Lys69Ile) n.469A>T | |
X | g.153863501T>C | CA415108555 | L1CAM | c.3506A>G (p.Lys1169Arg) c.3491A>G (p.Lys1164Arg) c.206A>G (p.Lys69Arg) n.469A>G | |
X | g.153863501T>G | CA415108553 | L1CAM | c.3506A>C (p.Lys1169Thr) c.3491A>C (p.Lys1164Thr) c.206A>C (p.Lys69Thr) n.469A>C | |
X | g.153863502T>A | CA415108558 | L1CAM | c.3505A>T (p.Lys1169Ter) c.3490A>T (p.Lys1164Ter) c.205A>T (p.Lys69Ter) n.468A>T | |
X | g.153863502T>C | CA415108561 | L1CAM | c.3505A>G (p.Lys1169Glu) c.3490A>G (p.Lys1164Glu) c.205A>G (p.Lys69Glu) n.468A>G | |
X | g.153863502T>G | CA415108566 | L1CAM | c.3505A>C (p.Lys1169Gln) c.3490A>C (p.Lys1164Gln) c.205A>C (p.Lys69Gln) n.468A>C | |
X | g.153863503C>A | CA415108573 | L1CAM | c.3504G>T (p.Met1168Ile) c.3489G>T (p.Met1163Ile) c.204G>T (p.Met68Ile) n.467G>T | |
X | g.153863503C>G | CA415108596 | L1CAM | c.3504G>C (p.Met1168Ile) c.3489G>C (p.Met1163Ile) c.204G>C (p.Met68Ile) n.467G>C | |
X | g.153863503C>T | CA415108599 | L1CAM | c.3504G>A (p.Met1168Ile) c.3489G>A (p.Met1163Ile) c.204G>A (p.Met68Ile) n.467G>A | |
X | g.153863504A>C | CA415108603 | L1CAM | c.3503T>G (p.Met1168Arg) c.3488T>G (p.Met1163Arg) c.203T>G (p.Met68Arg) n.466T>G | |
X | g.153863504A>G | CA415108605 | L1CAM | c.3503T>C (p.Met1168Thr) c.3488T>C (p.Met1163Thr) c.203T>C (p.Met68Thr) n.466T>C | |
X | g.153863504A>T | CA415108612 | L1CAM | c.3503T>A (p.Met1168Lys) c.3488T>A (p.Met1163Lys) c.203T>A (p.Met68Lys) n.466T>A | |
X | g.153863505T>A | CA415108621 | L1CAM | c.3502A>T (p.Met1168Leu) c.3487A>T (p.Met1163Leu) c.202A>T (p.Met68Leu) n.465A>T | |
X | g.153863505T>C | CA415108620 | L1CAM | c.3502A>G (p.Met1168Val) c.3487A>G (p.Met1163Val) c.202A>G (p.Met68Val) n.465A>G | |
X | g.153863505T>G | CA415108617 | L1CAM | c.3502A>C (p.Met1168Leu) c.3487A>C (p.Met1163Leu) c.202A>C (p.Met68Leu) n.465A>C | |
X | g.153863506C>A | CA519199749 | L1CAM | c.3501G>T (p.Pro1167=) c.3486G>T (p.Pro1162=) c.201G>T (p.Pro67=) n.464G>T | |
X | g.153863506C= | CA2466504680 | L1CAM | c.3501G= (p.Pro1167=) c.3486G= (p.Pro1162=) c.201G= (p.Pro67=) n.464G= | |
X | g.153863506C>G | CA519199751 | L1CAM | c.3501G>C (p.Pro1167=) c.3486G>C (p.Pro1162=) c.201G>C (p.Pro67=) n.464G>C | gnomAD v4 |
X | g.153863506C>T | CA519199752 | L1CAM | c.3501G>A (p.Pro1167=) c.3486G>A (p.Pro1162=) c.201G>A (p.Pro67=) n.464G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.153863507G>A | CA415108622 | L1CAM | c.3500C>T (p.Pro1167Leu) c.3485C>T (p.Pro1162Leu) c.200C>T (p.Pro67Leu) n.463C>T | ClinVar dbSNP |
X | g.153863507G>C | CA415108626 | L1CAM | c.3500C>G (p.Pro1167Arg) c.3485C>G (p.Pro1162Arg) c.200C>G (p.Pro67Arg) n.463C>G | |
X | g.153863507G= | CA2466504681 | L1CAM | c.3500C= (p.Pro1167=) c.3485C= (p.Pro1162=) c.200C= (p.Pro67=) n.463C= | |
X | g.153863507G>T | CA415108623 | L1CAM | c.3500C>A (p.Pro1167Gln) c.3485C>A (p.Pro1162Gln) c.200C>A (p.Pro67Gln) n.463C>A | gnomAD v4 COSMIC |
X | g.153863508dup | CA2579929271 | L1CAM | c.3500dup (p.Met1168AspfsTer4) c.3485dup (p.Met1163AspfsTer4) c.200dup (p.Met68AspfsTer4) n.463dup | ClinVar |
X | g.153863508G>A | CA415108631 | L1CAM | c.3499C>T (p.Pro1167Ser) c.3484C>T (p.Pro1162Ser) c.199C>T (p.Pro67Ser) n.462C>T | |
X | g.153863508G>C | CA415108639 | L1CAM | c.3499C>G (p.Pro1167Ala) c.3484C>G (p.Pro1162Ala) c.199C>G (p.Pro67Ala) n.462C>G | |
X | g.153863508G>T | CA415108635 | L1CAM | c.3499C>A (p.Pro1167Thr) c.3484C>A (p.Pro1162Thr) c.199C>A (p.Pro67Thr) n.462C>A | gnomAD v4 |
X | g.153863509T>A | CA519199766 | L1CAM | c.3498A>T (p.Arg1166=) c.3483A>T (p.Arg1161=) c.198A>T (p.Arg66=) n.461A>T | |
X | g.153863509T>C | CA519199767 | L1CAM | c.3498A>G (p.Arg1166=) c.3483A>G (p.Arg1161=) c.198A>G (p.Arg66=) n.461A>G | |
X | g.153863509T>G | CA519199768 | L1CAM | c.3498A>C (p.Arg1166=) c.3483A>C (p.Arg1161=) c.198A>C (p.Arg66=) n.461A>C | |
X | g.153863510C>A | CA415108641 | L1CAM | c.3497G>T (p.Arg1166Leu) c.3482G>T (p.Arg1161Leu) c.197G>T (p.Arg66Leu) n.460G>T | |
X | g.153863510C= | CA2466504682 | L1CAM | c.3497G= (p.Arg1166=) c.3482G= (p.Arg1161=) c.197G= (p.Arg66=) n.460G= | |
X | g.153863510C>G | CA415108645 | L1CAM | c.3497G>C (p.Arg1166Pro) c.3482G>C (p.Arg1161Pro) c.197G>C (p.Arg66Pro) n.460G>C | |
X | g.153863510C>T | CA415108647 | L1CAM | c.3497G>A (p.Arg1166Gln) c.3482G>A (p.Arg1161Gln) c.197G>A (p.Arg66Gln) n.460G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.153863511G>A | CA415108666 | L1CAM | c.3496C>T (p.Arg1166Ter) c.3481C>T (p.Arg1161Ter) c.196C>T (p.Arg66Ter) n.459C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153863511G>C | CA415108669 | L1CAM | c.3496C>G (p.Arg1166Gly) c.3481C>G (p.Arg1161Gly) c.196C>G (p.Arg66Gly) n.459C>G | |
X | g.153863511G= | CA2466504683 | L1CAM | c.3496C= (p.Arg1166=) c.3481C= (p.Arg1161=) c.196C= (p.Arg66=) n.459C= | |
X | g.153863511G>T | CA519199778 | L1CAM | c.3496C>A (p.Arg1166=) c.3481C>A (p.Arg1161=) c.196C>A (p.Arg66=) n.459C>A | |
X | g.153863512G>A | CA519199787 | L1CAM | c.3495C>T (p.Ala1165=) c.3480C>T (p.Ala1160=) c.195C>T (p.Ala65=) n.458C>T | |
X | g.153863512G>C | CA519199791 | L1CAM | c.3495C>G (p.Ala1165=) c.3480C>G (p.Ala1160=) c.195C>G (p.Ala65=) n.458C>G | |
X | g.153863512G>T | CA519199793 | L1CAM | c.3495C>A (p.Ala1165=) c.3480C>A (p.Ala1160=) c.195C>A (p.Ala65=) n.458C>A | |
X | g.153863513G>A | CA415108680 | L1CAM | c.3494C>T (p.Ala1165Val) c.3479C>T (p.Ala1160Val) c.194C>T (p.Ala65Val) n.457C>T | gnomAD v4 |
X | g.153863513G>C | CA415108686 | L1CAM | c.3494C>G (p.Ala1165Gly) c.3479C>G (p.Ala1160Gly) c.194C>G (p.Ala65Gly) n.457C>G | |
X | g.153863513G= | CA2466504684 | L1CAM | c.3494C= (p.Ala1165=) c.3479C= (p.Ala1160=) c.194C= (p.Ala65=) n.457C= | |
X | g.153863513G>T | CA415108688 | L1CAM | c.3494C>A (p.Ala1165Asp) c.3479C>A (p.Ala1160Asp) c.194C>A (p.Ala65Asp) n.457C>A | dbSNP |
X | g.153863514C>A | CA415108705 | L1CAM | c.3493G>T (p.Ala1165Ser) c.3478G>T (p.Ala1160Ser) c.193G>T (p.Ala65Ser) n.456G>T | |
X | g.153863514C>G | CA415108698 | L1CAM | c.3493G>C (p.Ala1165Pro) c.3478G>C (p.Ala1160Pro) c.193G>C (p.Ala65Pro) n.456G>C | |
X | g.153863514C>T | CA415108692 | L1CAM | c.3493G>A (p.Ala1165Thr) c.3478G>A (p.Ala1160Thr) c.193G>A (p.Ala65Thr) n.456G>A | |
X | g.153863515C>A | CA415108708 | L1CAM | c.3492G>T (p.Glu1164Asp) c.3477G>T (p.Glu1159Asp) c.192G>T (p.Glu64Asp) n.455G>T | |
X | g.153863515C>G | CA415108710 | L1CAM | c.3492G>C (p.Glu1164Asp) c.3477G>C (p.Glu1159Asp) c.192G>C (p.Glu64Asp) n.455G>C | |
X | g.153863515C>T | CA519199814 | L1CAM | c.3492G>A (p.Glu1164=) c.3477G>A (p.Glu1159=) c.192G>A (p.Glu64=) n.455G>A | gnomAD v4 |
X | g.153863516T>A | CA415108718 | L1CAM | c.3491A>T (p.Glu1164Val) c.3476A>T (p.Glu1159Val) c.191A>T (p.Glu64Val) n.454A>T | |
X | g.153863516T>C | CA415108722 | L1CAM | c.3491A>G (p.Glu1164Gly) c.3476A>G (p.Glu1159Gly) c.191A>G (p.Glu64Gly) n.454A>G | |
X | g.153863516T>G | CA415108729 | L1CAM | c.3491A>C (p.Glu1164Ala) c.3476A>C (p.Glu1159Ala) c.191A>C (p.Glu64Ala) n.454A>C | |
X | g.153863516_153863518delinsTCA | CA2466504685 | L1CAM | c.3489_3491delinsTGA (p.Ser1163=) c.3474_3476delinsTGA (p.Ser1158=) c.189_191delinsTGA (p.Ser63=) n.452_454delinsTGA | |
X | g.153863517C>A | CA415108731 | L1CAM | c.3490G>T (p.Glu1164Ter) c.3475G>T (p.Glu1159Ter) c.190G>T (p.Glu64Ter) n.453G>T | |
X | g.153863517C>G | CA415108733 | L1CAM | c.3490G>C (p.Glu1164Gln) c.3475G>C (p.Glu1159Gln) c.190G>C (p.Glu64Gln) n.453G>C | |
X | g.153863517C>T | CA415108735 | L1CAM | c.3490G>A (p.Glu1164Lys) c.3475G>A (p.Glu1159Lys) c.190G>A (p.Glu64Lys) n.453G>A | |
X | g.153863517_153863518del | CA10575511 | L1CAM | c.3489_3490del (p.Glu1164GlyfsTer7) c.3474_3475del (p.Glu1159GlyfsTer7) c.189_190del (p.Glu64GlyfsTer7) n.452_453del | ClinVar dbSNP |
X | g.153863518A= | CA2466504686 | L1CAM | c.3489T= (p.Ser1163=) c.3474T= (p.Ser1158=) c.189T= (p.Ser63=) n.452T= | |
X | g.153863518A>C | CA519199832 | L1CAM | c.3489T>G (p.Ser1163=) c.3474T>G (p.Ser1158=) c.189T>G (p.Ser63=) n.452T>G | |
X | g.153863518A>G | CA10553941 | L1CAM | c.3489T>C (p.Ser1163=) c.3474T>C (p.Ser1158=) c.189T>C (p.Ser63=) n.452T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153863518A>T | CA519199837 | L1CAM | c.3489T>A (p.Ser1163=) c.3474T>A (p.Ser1158=) c.189T>A (p.Ser63=) n.452T>A | |
X | g.153863519G>A | CA415108776 | L1CAM | c.3488C>T (p.Ser1163Phe) c.3473C>T (p.Ser1158Phe) c.188C>T (p.Ser63Phe) n.451C>T | |
X | g.153863519G>C | CA415108779 | L1CAM | c.3488C>G (p.Ser1163Cys) c.3473C>G (p.Ser1158Cys) c.188C>G (p.Ser63Cys) n.451C>G | |
X | g.153863519G>T | CA415108764 | L1CAM | c.3488C>A (p.Ser1163Tyr) c.3473C>A (p.Ser1158Tyr) c.188C>A (p.Ser63Tyr) n.451C>A | |
X | g.153863520A>C | CA415108783 | L1CAM | c.3487T>G (p.Ser1163Ala) c.3472T>G (p.Ser1158Ala) c.187T>G (p.Ser63Ala) n.450T>G | |
X | g.153863520A>G | CA415108788 | L1CAM | c.3487T>C (p.Ser1163Pro) c.3472T>C (p.Ser1158Pro) c.187T>C (p.Ser63Pro) n.450T>C | |
X | g.153863520A>T | CA415108792 | L1CAM | c.3487T>A (p.Ser1163Thr) c.3472T>A (p.Ser1158Thr) c.187T>A (p.Ser63Thr) n.450T>A | |
X | g.153863521G>A | CA519199852 | L1CAM | c.3486C>T (p.Asp1162=) c.3471C>T (p.Asp1157=) c.186C>T (p.Asp62=) n.449C>T | |
X | g.153863521G>C | CA415108797 | L1CAM | c.3486C>G (p.Asp1162Glu) c.3471C>G (p.Asp1157Glu) c.186C>G (p.Asp62Glu) n.449C>G | |
X | g.153863521G>T | CA415108801 | L1CAM | c.3486C>A (p.Asp1162Glu) c.3471C>A (p.Asp1157Glu) c.186C>A (p.Asp62Glu) n.449C>A | |
X | g.153863522T>A | CA415108807 | L1CAM | c.3485A>T (p.Asp1162Val) c.3470A>T (p.Asp1157Val) c.185A>T (p.Asp62Val) n.448A>T | |
X | g.153863522T>C | CA415108812 | L1CAM | c.3485A>G (p.Asp1162Gly) c.3470A>G (p.Asp1157Gly) c.185A>G (p.Asp62Gly) n.448A>G | |
X | g.153863522T>G | CA415108825 | L1CAM | c.3485A>C (p.Asp1162Ala) c.3470A>C (p.Asp1157Ala) c.185A>C (p.Asp62Ala) n.448A>C | |
X | g.153863523C>A | CA415108828 | L1CAM | c.3484G>T (p.Asp1162Tyr) c.3469G>T (p.Asp1157Tyr) c.184G>T (p.Asp62Tyr) n.447G>T | |
X | g.153863523C>G | CA415108834 | L1CAM | c.3484G>C (p.Asp1162His) c.3469G>C (p.Asp1157His) c.184G>C (p.Asp62His) n.447G>C | |
X | g.153863523C>T | CA415108840 | L1CAM | c.3484G>A (p.Asp1162Asn) c.3469G>A (p.Asp1157Asn) c.184G>A (p.Asp62Asn) n.447G>A | |
X | g.153863524C>A | CA519199882 | L1CAM | c.3483G>T (p.Val1161=) c.3468G>T (p.Val1156=) c.183G>T (p.Val61=) n.446G>T | |
X | g.153863524C>G | CA519199884 | L1CAM | c.3483G>C (p.Val1161=) c.3468G>C (p.Val1156=) c.183G>C (p.Val61=) n.446G>C | |
X | g.153863524C>T | CA519199890 | L1CAM | c.3483G>A (p.Val1161=) c.3468G>A (p.Val1156=) c.183G>A (p.Val61=) n.446G>A | |
X | g.153863525del | CA2579732519 | L1CAM | c.3482del (p.Val1161GlyfsTer8) c.3467del (p.Val1156GlyfsTer8) c.182del (p.Val61GlyfsTer8) n.445del | |
X | g.153863525A= | CA2466504687 | L1CAM | c.3482T= (p.Val1161=) c.3467T= (p.Val1156=) c.182T= (p.Val61=) n.445T= | |
X | g.153863525A>C | CA415108851 | L1CAM | c.3482T>G (p.Val1161Gly) c.3467T>G (p.Val1156Gly) c.182T>G (p.Val61Gly) n.445T>G | |
X | g.153863525A>G | CA415108844 | L1CAM | c.3482T>C (p.Val1161Ala) c.3467T>C (p.Val1156Ala) c.182T>C (p.Val61Ala) n.445T>C | |
X | g.153863525A>T | CA415108847 | L1CAM | c.3482T>A (p.Val1161Glu) c.3467T>A (p.Val1156Glu) c.182T>A (p.Val61Glu) n.445T>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.153863526C>A | CA415108852 | L1CAM | c.3481G>T (p.Val1161Leu) c.3466G>T (p.Val1156Leu) c.181G>T (p.Val61Leu) n.444G>T | |
X | g.153863526C>G | CA415108853 | L1CAM | c.3481G>C (p.Val1161Leu) c.3466G>C (p.Val1156Leu) c.181G>C (p.Val61Leu) n.444G>C | |
X | g.153863526C>T | CA415108854 | L1CAM | c.3481G>A (p.Val1161Met) c.3466G>A (p.Val1156Met) c.181G>A (p.Val61Met) n.444G>A | |
X | g.153863527C>A | CA415108856 | L1CAM | c.3480G>T (p.Gln1160His) c.3465G>T (p.Gln1155His) c.180G>T (p.Gln60His) n.443G>T | COSMIC |
X | g.153863527C>G | CA415108862 | L1CAM | c.3480G>C (p.Gln1160His) c.3465G>C (p.Gln1155His) c.180G>C (p.Gln60His) n.443G>C | |
X | g.153863527C>T | CA519199910 | L1CAM | c.3480G>A (p.Gln1160=) c.3465G>A (p.Gln1155=) c.180G>A (p.Gln60=) n.443G>A | |
X | g.153863528T>A | CA415108867 | L1CAM | c.3479A>T (p.Gln1160Leu) c.3464A>T (p.Gln1155Leu) c.179A>T (p.Gln60Leu) n.442A>T | |
X | g.153863528T>C | CA415108871 | L1CAM | c.3479A>G (p.Gln1160Arg) c.3464A>G (p.Gln1155Arg) c.179A>G (p.Gln60Arg) n.442A>G | |
X | g.153863528T>G | CA415108875 | L1CAM | c.3479A>C (p.Gln1160Pro) c.3464A>C (p.Gln1155Pro) c.179A>C (p.Gln60Pro) n.442A>C | |
X | g.153863529G>A | CA415108879 | L1CAM | c.3478C>T (p.Gln1160Ter) c.3463C>T (p.Gln1155Ter) c.178C>T (p.Gln60Ter) n.441C>T | |
X | g.153863529G>C | CA415108883 | L1CAM | c.3478C>G (p.Gln1160Glu) c.3463C>G (p.Gln1155Glu) c.178C>G (p.Gln60Glu) n.441C>G | |
X | g.153863529G>T | CA415108888 | L1CAM | c.3478C>A (p.Gln1160Lys) c.3463C>A (p.Gln1155Lys) c.178C>A (p.Gln60Lys) n.441C>A | |
X | g.153863531del | CA2579732520 | L1CAM | c.3478del (p.Gln1160ArgfsTer9) c.3463del (p.Gln1155ArgfsTer9) c.178del (p.Gln60ArgfsTer9) n.441del | |
X | g.153863530G>A | CA519199930 | L1CAM | c.3477C>T (p.Thr1159=) c.3462C>T (p.Thr1154=) c.177C>T (p.Thr59=) n.440C>T | |
X | g.153863530G>C | CA519199932 | L1CAM | c.3477C>G (p.Thr1159=) c.3462C>G (p.Thr1154=) c.177C>G (p.Thr59=) n.440C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153863530G= | CA2466504688 | L1CAM | c.3477C= (p.Thr1159=) c.3462C= (p.Thr1154=) c.177C= (p.Thr59=) n.440C= | |
X | g.153863530G>T | CA519199928 | L1CAM | c.3477C>A (p.Thr1159=) c.3462C>A (p.Thr1154=) c.177C>A (p.Thr59=) n.440C>A | ClinVar |
X | g.153863531G>A | CA415108891 | L1CAM | c.3476C>T (p.Thr1159Ile) c.3461C>T (p.Thr1154Ile) c.176C>T (p.Thr59Ile) n.439C>T | ClinVar dbSNP |
X | g.153863531G>C | CA415108892 | L1CAM | c.3476C>G (p.Thr1159Ser) c.3461C>G (p.Thr1154Ser) c.176C>G (p.Thr59Ser) n.439C>G | dbSNP |
X | g.153863531G= | CA2466504689 | L1CAM | c.3476C= (p.Thr1159=) c.3461C= (p.Thr1154=) c.176C= (p.Thr59=) n.439C= | |
X | g.153863531G>T | CA415108890 | L1CAM | c.3476C>A (p.Thr1159Asn) c.3461C>A (p.Thr1154Asn) c.176C>A (p.Thr59Asn) n.439C>A | |
X | g.153863532T>A | CA415108900 | L1CAM | c.3475A>T (p.Thr1159Ser) c.3460A>T (p.Thr1154Ser) c.175A>T (p.Thr59Ser) n.438A>T | |
X | g.153863532T>C | CA415108894 | L1CAM | c.3475A>G (p.Thr1159Ala) c.3460A>G (p.Thr1154Ala) c.175A>G (p.Thr59Ala) n.438A>G | |
X | g.153863532T>G | CA415108898 | L1CAM | c.3475A>C (p.Thr1159Pro) c.3460A>C (p.Thr1154Pro) c.175A>C (p.Thr59Pro) n.438A>C | |
X | g.153863533G>A | CA519199950 | L1CAM | c.3474C>T (p.Asp1158=) c.3459C>T (p.Asp1153=) c.174C>T (p.Asp58=) n.437C>T | ClinVar |
X | g.153863533G>C | CA415108902 | L1CAM | c.3474C>G (p.Asp1158Glu) c.3459C>G (p.Asp1153Glu) c.174C>G (p.Asp58Glu) n.437C>G | |
X | g.153863533G>T | CA415108903 | L1CAM | c.3474C>A (p.Asp1158Glu) c.3459C>A (p.Asp1153Glu) c.174C>A (p.Asp58Glu) n.437C>A | |
X | g.153863534T>A | CA415108905 | L1CAM | c.3473A>T (p.Asp1158Val) c.3458A>T (p.Asp1153Val) c.173A>T (p.Asp58Val) n.436A>T | |
X | g.153863534T>C | CA415108906 | L1CAM | c.3473A>G (p.Asp1158Gly) c.3458A>G (p.Asp1153Gly) c.173A>G (p.Asp58Gly) n.436A>G | ClinVar dbSNP gnomAD v4 |
X | g.153863534T>G | CA415108908 | L1CAM | c.3473A>C (p.Asp1158Ala) c.3458A>C (p.Asp1153Ala) c.173A>C (p.Asp58Ala) n.436A>C | |
X | g.153863534T= | CA2466504690 | L1CAM | c.3473A= (p.Asp1158=) c.3458A= (p.Asp1153=) c.173A= (p.Asp58=) n.436A= | |
X | g.153863535C>A | CA415108912 | L1CAM | c.3472G>T (p.Asp1158Tyr) c.3457G>T (p.Asp1153Tyr) c.172G>T (p.Asp58Tyr) n.435G>T | |
X | g.153863535C>G | CA415108914 | L1CAM | c.3472G>C (p.Asp1158His) c.3457G>C (p.Asp1153His) c.172G>C (p.Asp58His) n.435G>C | |
X | g.153863535C>T | CA415108918 | L1CAM | c.3472G>A (p.Asp1158Asn) c.3457G>A (p.Asp1153Asn) c.172G>A (p.Asp58Asn) n.435G>A | |
X | g.153863536C>A | CA415108922 | L1CAM | c.3471G>T (p.Glu1157Asp) c.3456G>T (p.Glu1152Asp) c.171G>T (p.Glu57Asp) n.434G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.153863536C= | CA2466504691 | L1CAM | c.3471G= (p.Glu1157=) c.3456G= (p.Glu1152=) c.171G= (p.Glu57=) n.434G= | |
X | g.153863536C>G | CA415108923 | L1CAM | c.3471G>C (p.Glu1157Asp) c.3456G>C (p.Glu1152Asp) c.171G>C (p.Glu57Asp) n.434G>C | |
X | g.153863536C>T | CA519199974 | L1CAM | c.3471G>A (p.Glu1157=) c.3456G>A (p.Glu1152=) c.171G>A (p.Glu57=) n.434G>A | |
X | g.153863537T>A | CA415108926 | L1CAM | c.3470A>T (p.Glu1157Val) c.3455A>T (p.Glu1152Val) c.170A>T (p.Glu57Val) n.433A>T | |
X | g.153863537T>C | CA415108924 | L1CAM | c.3470A>G (p.Glu1157Gly) c.3455A>G (p.Glu1152Gly) c.170A>G (p.Glu57Gly) n.433A>G | gnomAD v4 |
X | g.153863537T>G | CA415108925 | L1CAM | c.3470A>C (p.Glu1157Ala) c.3455A>C (p.Glu1152Ala) c.170A>C (p.Glu57Ala) n.433A>C | |
X | g.153863538C>A | CA415108927 | L1CAM | c.3469G>T (p.Glu1157Ter) c.3454G>T (p.Glu1152Ter) c.169G>T (p.Glu57Ter) n.432G>T | dbSNP |
X | g.153863538C= | CA2466504692 | L1CAM | c.3469G= (p.Glu1157=) c.3454G= (p.Glu1152=) c.169G= (p.Glu57=) n.432G= | |
X | g.153863538C>G | CA415108929 | L1CAM | c.3469G>C (p.Glu1157Gln) c.3454G>C (p.Glu1152Gln) c.169G>C (p.Glu57Gln) n.432G>C | |
X | g.153863538C>T | CA415108931 | L1CAM | c.3469G>A (p.Glu1157Lys) c.3454G>A (p.Glu1152Lys) c.169G>A (p.Glu57Lys) n.432G>A | |
X | g.153863539C>A | CA415108932 | L1CAM | c.3468G>T (p.Lys1156Asn) c.3453G>T (p.Lys1151Asn) c.168G>T (p.Lys56Asn) n.431G>T | |
X | g.153863539C>G | CA415108934 | L1CAM | c.3468G>C (p.Lys1156Asn) c.3453G>C (p.Lys1151Asn) c.168G>C (p.Lys56Asn) n.431G>C | |
X | g.153863539C>T | CA519199996 | L1CAM | c.3468G>A (p.Lys1156=) c.3453G>A (p.Lys1151=) c.168G>A (p.Lys56=) n.431G>A | |
X | g.153863540T>A | CA415108937 | L1CAM | c.3467A>T (p.Lys1156Met) c.3452A>T (p.Lys1151Met) c.167A>T (p.Lys56Met) n.430A>T | |
X | g.153863540T>C | CA415108939 | L1CAM | c.3467A>G (p.Lys1156Arg) c.3452A>G (p.Lys1151Arg) c.167A>G (p.Lys56Arg) n.430A>G | |
X | g.153863540T>G | CA415108942 | L1CAM | c.3467A>C (p.Lys1156Thr) c.3452A>C (p.Lys1151Thr) c.167A>C (p.Lys56Thr) n.430A>C | |
X | g.153863541T>A | CA415108945 | L1CAM | c.3466A>T (p.Lys1156Ter) c.3451A>T (p.Lys1151Ter) c.166A>T (p.Lys56Ter) n.429A>T | |
X | g.153863541T>C | CA415108946 | L1CAM | c.3466A>G (p.Lys1156Glu) c.3451A>G (p.Lys1151Glu) c.166A>G (p.Lys56Glu) n.429A>G | |
X | g.153863541T>G | CA415108949 | L1CAM | c.3466A>C (p.Lys1156Gln) c.3451A>C (p.Lys1151Gln) c.166A>C (p.Lys56Gln) n.429A>C | |
X | g.153863542A>C | CA415108961 | L1CAM | c.3465T>G (p.Asp1155Glu) c.3450T>G (p.Asp1150Glu) c.165T>G (p.Asp55Glu) n.428T>G | |
X | g.153863542A>G | CA519200037 | L1CAM | c.3465T>C (p.Asp1155=) c.3450T>C (p.Asp1150=) c.165T>C (p.Asp55=) n.428T>C | |
X | g.153863542A>T | CA415108963 | L1CAM | c.3465T>A (p.Asp1155Glu) c.3450T>A (p.Asp1150Glu) c.165T>A (p.Asp55Glu) n.428T>A | |
X | g.153863543T>A | CA415108966 | L1CAM | c.3464A>T (p.Asp1155Val) c.3449A>T (p.Asp1150Val) c.164A>T (p.Asp55Val) n.427A>T | |
X | g.153863543T>C | CA415108969 | L1CAM | c.3464A>G (p.Asp1155Gly) c.3449A>G (p.Asp1150Gly) c.164A>G (p.Asp55Gly) n.427A>G | |
X | g.153863543T>G | CA415108971 | L1CAM | c.3464A>C (p.Asp1155Ala) c.3449A>C (p.Asp1150Ala) c.164A>C (p.Asp55Ala) n.427A>C | |
X | g.153863544C>A | CA415108973 | L1CAM | c.3463G>T (p.Asp1155Tyr) c.3448G>T (p.Asp1150Tyr) c.163G>T (p.Asp55Tyr) n.426G>T | gnomAD v4 |
X | g.153863544C>G | CA415108978 | L1CAM | c.3463G>C (p.Asp1155His) c.3448G>C (p.Asp1150His) c.163G>C (p.Asp55His) n.426G>C | |
X | g.153863544C>T | CA415108981 | L1CAM | c.3463G>A (p.Asp1155Asn) c.3448G>A (p.Asp1150Asn) c.163G>A (p.Asp55Asn) n.426G>A | |
X | g.153863545C>A | CA415108988 | L1CAM | c.3462G>T (p.Lys1154Asn) c.3447G>T (p.Lys1149Asn) c.162G>T (p.Lys54Asn) n.425G>T | gnomAD v4 |
X | g.153863545C>G | CA415108994 | L1CAM | c.3462G>C (p.Lys1154Asn) c.3447G>C (p.Lys1149Asn) c.162G>C (p.Lys54Asn) n.425G>C | |
X | g.153863545C>T | CA519200059 | L1CAM | c.3462G>A (p.Lys1154=) c.3447G>A (p.Lys1149=) c.162G>A (p.Lys54=) n.425G>A | |
X | g.153863546T>A | CA415108996 | L1CAM | c.3461A>T (p.Lys1154Met) c.3446A>T (p.Lys1149Met) c.161A>T (p.Lys54Met) n.424A>T | |
X | g.153863546T>C | CA415109000 | L1CAM | c.3461A>G (p.Lys1154Arg) c.3446A>G (p.Lys1149Arg) c.161A>G (p.Lys54Arg) n.424A>G | dbSNP gnomAD v4 |
X | g.153863546T>G | CA415109002 | L1CAM | c.3461A>C (p.Lys1154Thr) c.3446A>C (p.Lys1149Thr) c.161A>C (p.Lys54Thr) n.424A>C | COSMIC |
X | g.153863547T>A | CA415109009 | L1CAM | c.3460A>T (p.Lys1154Ter) c.3445A>T (p.Lys1149Ter) c.160A>T (p.Lys54Ter) n.423A>T | |
X | g.153863547T>C | CA415109006 | L1CAM | c.3460A>G (p.Lys1154Glu) c.3445A>G (p.Lys1149Glu) c.160A>G (p.Lys54Glu) n.423A>G | |
X | g.153863547T>G | CA415109005 | L1CAM | c.3460A>C (p.Lys1154Gln) c.3445A>C (p.Lys1149Gln) c.160A>C (p.Lys54Gln) n.423A>C | |
X | g.153863548C>A | CA519200079 | L1CAM | c.3459G>T (p.Val1153=) c.3444G>T (p.Val1148=) c.159G>T (p.Val53=) n.422G>T | |
X | g.153863548C>G | CA519200082 | L1CAM | c.3459G>C (p.Val1153=) c.3444G>C (p.Val1148=) c.159G>C (p.Val53=) n.422G>C | |
X | g.153863548C>T | CA519200086 | L1CAM | c.3459G>A (p.Val1153=) c.3444G>A (p.Val1148=) c.159G>A (p.Val53=) n.422G>A | |
X | g.153863549A>C | CA415109010 | L1CAM | c.3458T>G (p.Val1153Gly) c.3443T>G (p.Val1148Gly) c.158T>G (p.Val53Gly) n.421T>G | |
X | g.153863549A>G | CA415109025 | L1CAM | c.3458T>C (p.Val1153Ala) c.3443T>C (p.Val1148Ala) c.158T>C (p.Val53Ala) n.421T>C | |
X | g.153863549A>T | CA415109028 | L1CAM | c.3458T>A (p.Val1153Glu) c.3443T>A (p.Val1148Glu) c.158T>A (p.Val53Glu) n.421T>A | dbSNP gnomAD v4 |
X | g.153863550C>A | CA415109031 | L1CAM | c.3458-1G>T (n.3458-1G>T) c.3443-1G>T (n.3443-1G>T) c.158-1G>T (n.158-1G>T) n.420G>T | |
X | g.153863550C= | CA2466504693 | L1CAM | c.3458-1G= (n.3458-1G=) c.3443-1G= (n.3443-1G=) c.158-1G= (n.158-1G=) n.420G= | |
X | g.153863550C>G | CA10575545 | L1CAM | c.3458-1G>C (n.3458-1G>C) c.3443-1G>C (n.3443-1G>C) c.158-1G>C (n.158-1G>C) n.420G>C | ClinVar dbSNP |
X | g.153863550C>T | CA415109037 | L1CAM | c.3458-1G>A (n.3458-1G>A) c.3443-1G>A (n.3443-1G>A) c.158-1G>A (n.158-1G>A) n.420G>A | |
X | g.153863551T>A | CA415109042 | L1CAM | c.3458-2A>T (n.3458-2A>T) c.3443-2A>T (n.3443-2A>T) c.158-2A>T (n.158-2A>T) n.419A>T | |
X | g.153863551T>C | CA415109045 | L1CAM | c.3458-2A>G (n.3458-2A>G) c.3443-2A>G (n.3443-2A>G) c.158-2A>G (n.158-2A>G) n.419A>G | |
X | g.153863551T>G | CA415109060 | L1CAM | c.3458-2A>C (n.3458-2A>C) c.3443-2A>C (n.3443-2A>C) c.158-2A>C (n.158-2A>C) n.419A>C | |
X | g.153863552_153863553insTGTCTCCAGTGAAG | CA2695067020 | L1CAM | c.3458-3_3458-2insTTCACTGGAGACAC (n.3458-3_3458-2insTTCACTGGAGACAC) c.3443-3_3443-2insTTCACTGGAGACAC (n.3443-3_3443-2insTTCACTGGAGACAC) c.158-3_158-2insTTCACTGGAGACAC (n.158-3_158-2insTTCACTGGAGACAC) n.418_419insTTCACTGGAGACAC | gnomAD v4 |
X | g.153863553G>C | CA2500617664 | L1CAM | c.3458-4C>G (n.3458-4C>G) c.3443-4C>G (n.3443-4C>G) c.158-4C>G (n.158-4C>G) n.417C>G | |
X | g.153863555_153863556del | CA2579732521 | L1CAM | c.3458-5_3458-4del (n.3458-5_3458-4del) c.3443-5_3443-4del (n.3443-5_3443-4del) c.158-5_158-4del (n.158-5_158-4del) n.416_417del | |
X | g.153863554A= | CA2466504694 | L1CAM | c.3458-5T= (n.3458-5T=) c.3443-5T= (n.3443-5T=) c.158-5T= (n.158-5T=) n.416T= | |
X | g.153863554A>C | CA1139667901 | L1CAM | c.3458-5T>G (n.3458-5T>G) c.3443-5T>G (n.3443-5T>G) c.158-5T>G (n.158-5T>G) n.416T>G | ClinVar dbSNP |
X | g.153863554A>G | CA2579732522 | L1CAM | c.3458-5T>C (n.3458-5T>C) c.3443-5T>C (n.3443-5T>C) c.158-5T>C (n.158-5T>C) n.416T>C | |
X | g.153863555G>A | CA2602662597 | L1CAM | c.3458-6C>T (n.3458-6C>T) c.3443-6C>T (n.3443-6C>T) c.158-6C>T (n.158-6C>T) n.415C>T | gnomAD v3 gnomAD v4 |
X | g.153863555G>T | CA2551643514 | L1CAM | c.3458-6C>A (n.3458-6C>A) c.3443-6C>A (n.3443-6C>A) c.158-6C>A (n.158-6C>A) n.415C>A | |
X | g.153863556A>G | CA2695067021 | L1CAM | c.3458-7T>C (n.3458-7T>C) c.3443-7T>C (n.3443-7T>C) c.158-7T>C (n.158-7T>C) n.414T>C | gnomAD v4 |
X | g.153863556A>T | CA2695067022 | L1CAM | c.3458-7T>A (n.3458-7T>A) c.3443-7T>A (n.3443-7T>A) c.158-7T>A (n.158-7T>A) n.414T>A | gnomAD v4 |
X | g.153863557C>T | CA2739273819 | L1CAM | c.3458-8G>A (n.3458-8G>A) c.3443-8G>A (n.3443-8G>A) c.158-8G>A (n.158-8G>A) n.413G>A | ClinVar |
X | g.153863558A= | CA2466504695 | L1CAM | c.3458-9T= (n.3458-9T=) c.3443-9T= (n.3443-9T=) c.158-9T= (n.158-9T=) n.412T= | |
X | g.153863558A>C | CA10553942 | L1CAM | c.3458-9T>G (n.3458-9T>G) c.3443-9T>G (n.3443-9T>G) c.158-9T>G (n.158-9T>G) n.412T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153863558A>G | CA2739273820 | L1CAM | c.3458-9T>C (n.3458-9T>C) c.3443-9T>C (n.3443-9T>C) c.158-9T>C (n.158-9T>C) n.412T>C | ClinVar |
X | g.153863559C= | CA2466504696 | L1CAM | c.3458-10G= (n.3458-10G=) c.3443-10G= (n.3443-10G=) c.158-10G= (n.158-10G=) n.411G= | |
X | g.153863559C>T | CA2466504697 | L1CAM | c.3458-10G>A (n.3458-10G>A) c.3443-10G>A (n.3443-10G>A) c.158-10G>A (n.158-10G>A) n.411G>A | dbSNP gnomAD v4 |
X | g.153863564_153863565del | CA2579732523 | L1CAM | c.3458-12_3458-11del (n.3458-12_3458-11del) c.3443-12_3443-11del (n.3443-12_3443-11del) c.158-12_158-11del (n.158-12_158-11del) n.409_410del | |
X | g.153863562A>T | CA2739253072 | L1CAM | c.3458-13T>A (n.3458-13T>A) c.3443-13T>A (n.3443-13T>A) c.158-13T>A (n.158-13T>A) n.408T>A | dbSNP |
X | g.153863563G>A | CA2579732524 | L1CAM | c.3458-14C>T (n.3458-14C>T) c.3443-14C>T (n.3443-14C>T) c.158-14C>T (n.158-14C>T) n.407C>T | gnomAD v4 |
X | g.153863563G>C | CA2695067023 | L1CAM | c.3458-14C>G (n.3458-14C>G) c.3443-14C>G (n.3443-14C>G) c.158-14C>G (n.158-14C>G) n.407C>G | gnomAD v4 |
X | g.153863563G>T | CA2695067024 | L1CAM | c.3458-14C>A (n.3458-14C>A) c.3443-14C>A (n.3443-14C>A) c.158-14C>A (n.158-14C>A) n.407C>A | gnomAD v4 |
X | g.153863565G>A | CA10553943 | L1CAM | c.3458-16C>T (n.3458-16C>T) c.3443-16C>T (n.3443-16C>T) c.158-16C>T (n.158-16C>T) n.405C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153863565G= | CA2466504698 | L1CAM | c.3458-16C= (n.3458-16C=) c.3443-16C= (n.3443-16C=) c.158-16C= (n.158-16C=) n.405C= | |
X | g.153863565G>T | CA658514871 | L1CAM | c.3458-16C>A (n.3458-16C>A) c.3443-16C>A (n.3443-16C>A) c.158-16C>A (n.158-16C>A) n.405C>A | COSMIC |
X | g.153863567del | CA2579732525 | L1CAM | c.3458-16del (n.3458-16del) c.3443-16del (n.3443-16del) c.158-16del (n.158-16del) n.405del | |
X | g.153863566G>T | CA2739253075 | L1CAM | c.3458-17C>A (n.3458-17C>A) c.3443-17C>A (n.3443-17C>A) c.158-17C>A (n.158-17C>A) n.404C>A | dbSNP |
X | g.153863567G>A | CA2695067026 | L1CAM | c.3458-18C>T (n.3458-18C>T) c.3443-18C>T (n.3443-18C>T) c.158-18C>T (n.158-18C>T) n.403C>T | gnomAD v4 |
X | g.153863567G>C | CA2697544830 | L1CAM | c.3458-18C>G (n.3458-18C>G) c.3443-18C>G (n.3443-18C>G) c.158-18C>G (n.158-18C>G) n.403C>G | ClinVar |
X | g.153863567G>T | CA2695067025 | L1CAM | c.3458-18C>A (n.3458-18C>A) c.3443-18C>A (n.3443-18C>A) c.158-18C>A (n.158-18C>A) n.403C>A | gnomAD v4 |
X | g.153863568A>C | CA2545076206 | L1CAM | c.3458-19T>G (n.3458-19T>G) c.3443-19T>G (n.3443-19T>G) c.158-19T>G (n.158-19T>G) n.402T>G | |
X | g.153863569C>T | CA2695067027 | L1CAM | c.3458-20G>A (n.3458-20G>A) c.3443-20G>A (n.3443-20G>A) c.158-20G>A (n.158-20G>A) n.401G>A | gnomAD v4 |
X | g.153863571G>A | CA2695067028 | L1CAM | c.3458-22C>T (n.3458-22C>T) c.3443-22C>T (n.3443-22C>T) c.158-22C>T (n.158-22C>T) n.399C>T | gnomAD v4 |
X | g.153863572C= | CA2466504699 | L1CAM | c.3458-23G= (n.3458-23G=) c.3443-23G= (n.3443-23G=) c.158-23G= (n.158-23G=) n.398G= | |
X | g.153863572C>G | CA2534434594 | L1CAM | c.3458-23G>C (n.3458-23G>C) c.3443-23G>C (n.3443-23G>C) c.158-23G>C (n.158-23G>C) n.398G>C | gnomAD v4 |
X | g.153863572C>T | CA10553944 | L1CAM | c.3458-23G>A (n.3458-23G>A) c.3443-23G>A (n.3443-23G>A) c.158-23G>A (n.158-23G>A) n.398G>A | dbSNP ExAC gnomAD v4 |
X | g.153863574T>G | CA2543673936 | L1CAM | c.3458-25A>C (n.3458-25A>C) c.3443-25A>C (n.3443-25A>C) c.158-25A>C (n.158-25A>C) n.396A>C | |
X | g.153863575C>T | CA2695067029 | L1CAM | c.3458-26G>A (n.3458-26G>A) c.3443-26G>A (n.3443-26G>A) c.158-26G>A (n.158-26G>A) n.395G>A | gnomAD v4 |
X | g.153863577T>C | CA2466504701 | L1CAM | c.3458-28A>G (n.3458-28A>G) c.3443-28A>G (n.3443-28A>G) c.158-28A>G (n.158-28A>G) n.393A>G | dbSNP gnomAD v4 |
X | g.153863577T= | CA2466504700 | L1CAM | c.3458-28A= (n.3458-28A=) c.3443-28A= (n.3443-28A=) c.158-28A= (n.158-28A=) n.393A= | |
X | g.153863578C>T | CA2579732526 | L1CAM | c.3458-29G>A (n.3458-29G>A) c.3443-29G>A (n.3443-29G>A) c.158-29G>A (n.158-29G>A) n.392G>A | |
X | g.153863581C= | CA2466504702 | L1CAM | c.3458-32G= (n.3458-32G=) c.3443-32G= (n.3443-32G=) c.158-32G= (n.158-32G=) n.389G= | |
X | g.153863581C>T | CA2466504703 | L1CAM | c.3458-32G>A (n.3458-32G>A) c.3443-32G>A (n.3443-32G>A) c.158-32G>A (n.158-32G>A) n.389G>A | dbSNP gnomAD v4 |
X | g.153863582C>A | CA2695067030 | L1CAM | c.3458-33G>T (n.3458-33G>T) c.3443-33G>T (n.3443-33G>T) c.158-33G>T (n.158-33G>T) n.388G>T | gnomAD v4 |
X | g.153863582C= | CA2466504704 | L1CAM | c.3458-33G= (n.3458-33G=) c.3443-33G= (n.3443-33G=) c.158-33G= (n.158-33G=) n.388G= | |
X | g.153863582C>T | CA10553945 | L1CAM | c.3458-33G>A (n.3458-33G>A) c.3443-33G>A (n.3443-33G>A) c.158-33G>A (n.158-33G>A) n.388G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153863583del | CA2579732527 | L1CAM | c.3458-34del (n.3458-34del) c.3443-34del (n.3443-34del) c.158-34del (n.158-34del) n.387del | |
X | g.153863583G>A | CA10553946 | L1CAM | c.3458-34C>T (n.3458-34C>T) c.3443-34C>T (n.3443-34C>T) c.158-34C>T (n.158-34C>T) n.387C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153863583G= | CA2466504705 | L1CAM | c.3458-34C= (n.3458-34C=) c.3443-34C= (n.3443-34C=) c.158-34C= (n.158-34C=) n.387C= | |
X | g.153863583G>T | CA2695067031 | L1CAM | c.3458-34C>A (n.3458-34C>A) c.3443-34C>A (n.3443-34C>A) c.158-34C>A (n.158-34C>A) n.387C>A | gnomAD v4 |
X | g.153863584C= | CA2466504706 | L1CAM | c.3458-35G= (n.3458-35G=) c.3443-35G= (n.3443-35G=) c.158-35G= (n.158-35G=) n.386G= | |
X | g.153863584C>T | CA337257258 | L1CAM | c.3458-35G>A (n.3458-35G>A) c.3443-35G>A (n.3443-35G>A) c.158-35G>A (n.158-35G>A) n.386G>A | dbSNP gnomAD v4 |
X | g.153863587del | CA2579732528 | L1CAM | c.3458-35del (n.3458-35del) c.3443-35del (n.3443-35del) c.158-35del (n.158-35del) n.386del | gnomAD v4 |
X | g.153863585C>A | CA2695067032 | L1CAM | c.3458-36G>T (n.3458-36G>T) c.3443-36G>T (n.3443-36G>T) c.158-36G>T (n.158-36G>T) n.385G>T | gnomAD v4 |
X | g.153863585C= | CA2466504707 | L1CAM | c.3458-36G= (n.3458-36G=) c.3443-36G= (n.3443-36G=) c.158-36G= (n.158-36G=) n.385G= | |
X | g.153863585C>T | CA873283831 | L1CAM | c.3458-36G>A (n.3458-36G>A) c.3443-36G>A (n.3443-36G>A) c.158-36G>A (n.158-36G>A) n.385G>A | dbSNP gnomAD v4 |
X | g.153863585_153863603delinsCCCAGCCTGACCCGGGGCT | CA2466504708 | L1CAM | c.3458-54_3458-36delinsAGCCCCGGGTCAGGCTGGG (n.3458-54_3458-36delinsAGCCCCGGGTCAGGCTGGG) c.3443-54_3443-36delinsAGCCCCGGGTCAGGCTGGG (n.3443-54_3443-36delinsAGCCCCGGGTCAGGCTGGG) c.158-54_158-36delinsAGCCCCGGGTCAGGCTGGG (n.158-54_158-36delinsAGCCCCGGGTCAGGCTGGG) n.367_385delinsAGCCCCGGGTCAGGCTGGG | |
X | g.153863586C>A | CA2579732529 | L1CAM | c.3458-37G>T (n.3458-37G>T) c.3443-37G>T (n.3443-37G>T) c.158-37G>T (n.158-37G>T) n.384G>T | gnomAD v4 |
X | g.153863586C>T | CA2579732530 | L1CAM | c.3458-37G>A (n.3458-37G>A) c.3443-37G>A (n.3443-37G>A) c.158-37G>A (n.158-37G>A) n.384G>A | gnomAD v4 |
X | g.153863590_153863607del | CA920449940 | L1CAM | c.3458-54_3458-37del (n.3458-54_3458-37del) c.3443-54_3443-37del (n.3443-54_3443-37del) c.158-54_158-37del (n.158-54_158-37del) n.367_384del | dbSNP gnomAD v4 |
X | g.153863587C>A | CA337257260 | L1CAM | c.3458-38G>T (n.3458-38G>T) c.3443-38G>T (n.3443-38G>T) c.158-38G>T (n.158-38G>T) n.383G>T | dbSNP |
X | g.153863587C= | CA2466504709 | L1CAM | c.3458-38G= (n.3458-38G=) c.3443-38G= (n.3443-38G=) c.158-38G= (n.158-38G=) n.383G= | |
X | g.153863587C>T | CA10553947 | L1CAM | c.3458-38G>A (n.3458-38G>A) c.3443-38G>A (n.3443-38G>A) c.158-38G>A (n.158-38G>A) n.383G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153863587_153863588insGGGTC | CA2695067033 | L1CAM | c.3458-38_3458-37insACCCG (n.3458-38_3458-37insACCCG) c.3443-38_3443-37insACCCG (n.3443-38_3443-37insACCCG) c.158-38_158-37insACCCG (n.158-38_158-37insACCCG) n.383_384insACCCG | gnomAD v4 |
X | g.153863587_153863588insGGGTCAGGCTGGGGCGGG | CA2695067034 | L1CAM | c.3458-39_3458-38insCCCGCCCCAGCCTGACCC (n.3458-39_3458-38insCCCGCCCCAGCCTGACCC) c.3443-39_3443-38insCCCGCCCCAGCCTGACCC (n.3443-39_3443-38insCCCGCCCCAGCCTGACCC) c.158-39_158-38insCCCGCCCCAGCCTGACCC (n.158-39_158-38insCCCGCCCCAGCCTGACCC) n.382_383insCCCGCCCCAGCCTGACCC | gnomAD v4 |
X | g.153863589G>A | CA645151037 | L1CAM | c.3458-40C>T (n.3458-40C>T) c.3443-40C>T (n.3443-40C>T) c.158-40C>T (n.158-40C>T) n.381C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.153863589G= | CA2466504710 | L1CAM | c.3458-40C= (n.3458-40C=) c.3443-40C= (n.3443-40C=) c.158-40C= (n.158-40C=) n.381C= | |
X | g.153863589G>T | CA2695067035 | L1CAM | c.3458-40C>A (n.3458-40C>A) c.3443-40C>A (n.3443-40C>A) c.158-40C>A (n.158-40C>A) n.381C>A | gnomAD v4 |
X | g.153863590C>A | CA2579732531 | L1CAM | c.3458-41G>T (n.3458-41G>T) c.3443-41G>T (n.3443-41G>T) c.158-41G>T (n.158-41G>T) n.380G>T | gnomAD v4 |
X | g.153863590C>G | CA2695067036 | L1CAM | c.3458-41G>C (n.3458-41G>C) c.3443-41G>C (n.3443-41G>C) c.158-41G>C (n.158-41G>C) n.380G>C | gnomAD v4 |