| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153870477C>A | CA415133421 | L1CAM | c.717G>T (p.Lys239Asn) c.702G>T (p.Lys234Asn) | |
| X | g.153870477C>G | CA415133423 | L1CAM | c.717G>C (p.Lys239Asn) c.702G>C (p.Lys234Asn) | |
| X | g.153870477C>T | CA519209275 | L1CAM | c.717G>A (p.Lys239=) c.702G>A (p.Lys234=) | |
| X | g.153870478T>A | CA415133428 | L1CAM | c.716A>T (p.Lys239Met) c.701A>T (p.Lys234Met) | |
| X | g.153870478T>C | CA415133430 | L1CAM | c.716A>G (p.Lys239Arg) c.701A>G (p.Lys234Arg) | |
| X | g.153870478T>G | CA415133432 | L1CAM | c.716A>C (p.Lys239Thr) c.701A>C (p.Lys234Thr) | |
| X | g.153870479T>A | CA415133439 | L1CAM | c.715A>T (p.Lys239Ter) c.700A>T (p.Lys234Ter) | |
| X | g.153870479T>C | CA415133436 | L1CAM | c.715A>G (p.Lys239Glu) c.700A>G (p.Lys234Glu) | |
| X | g.153870479T>G | CA415133435 | L1CAM | c.715A>C (p.Lys239Gln) c.700A>C (p.Lys234Gln) | |
| X | g.153870480C>A | CA415133444 | L1CAM | c.714G>T (p.Arg238Ser) c.699G>T (p.Arg233Ser) | |
| X | g.153870480C>G | CA415133445 | L1CAM | c.714G>C (p.Arg238Ser) c.699G>C (p.Arg233Ser) | |
| X | g.153870480C>T | CA519209291 | L1CAM | c.714G>A (p.Arg238=) c.699G>A (p.Arg233=) | |
| X | g.153870481C>A | CA415133447 | L1CAM | c.713G>T (p.Arg238Met) c.698G>T (p.Arg233Met) | |
| X | g.153870481C= | CA2466507176 | L1CAM | c.713G= (p.Arg238=) c.698G= (p.Arg233=) | |
| X | g.153870481C>G | CA415133450 | L1CAM | c.713G>C (p.Arg238Thr) c.698G>C (p.Arg233Thr) | |
| X | g.153870481C>T | CA337263601 | L1CAM | c.713G>A (p.Arg238Lys) c.698G>A (p.Arg233Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870482_153870485dup | CA2695236876 | L1CAM | c.710_713dup (p.Lys239GlnfsTer?) c.695_698dup (p.Lys234GlnfsTer?) | |
| X | g.153870482T>A | CA415133453 | L1CAM | c.712A>T (p.Arg238Trp) c.697A>T (p.Arg233Trp) | |
| X | g.153870482T>C | CA415133456 | L1CAM | c.712A>G (p.Arg238Gly) c.697A>G (p.Arg233Gly) | |
| X | g.153870482T>G | CA519209299 | L1CAM | c.712A>C (p.Arg238=) c.697A>C (p.Arg233=) | gnomAD v4 |
| X | g.153870483G>A | CA519209303 | L1CAM | c.711C>T (p.Asp237=) c.696C>T (p.Asp232=) | |
| X | g.153870483G>C | CA415133460 | L1CAM | c.711C>G (p.Asp237Glu) c.696C>G (p.Asp232Glu) | gnomAD v4 |
| X | g.153870483G>T | CA415133462 | L1CAM | c.711C>A (p.Asp237Glu) c.696C>A (p.Asp232Glu) | gnomAD v4 |
| X | g.153870484T>A | CA415133464 | L1CAM | c.710A>T (p.Asp237Val) c.695A>T (p.Asp232Val) | |
| X | g.153870484T>C | CA415133467 | L1CAM | c.710A>G (p.Asp237Gly) c.695A>G (p.Asp232Gly) | |
| X | g.153870484T>G | CA415133468 | L1CAM | c.710A>C (p.Asp237Ala) c.695A>C (p.Asp232Ala) | |
| X | g.153870485C>A | CA415133474 | L1CAM | c.709G>T (p.Asp237Tyr) c.694G>T (p.Asp232Tyr) | |
| X | g.153870485C>G | CA415133471 | L1CAM | c.709G>C (p.Asp237His) c.694G>C (p.Asp232His) | |
| X | g.153870485C>T | CA415133473 | L1CAM | c.709G>A (p.Asp237Asn) c.694G>A (p.Asp232Asn) | |
| X | g.153870486A>C | CA415133476 | L1CAM | c.708T>G (p.Ile236Met) c.693T>G (p.Ile231Met) | |
| X | g.153870486A>G | CA519209317 | L1CAM | c.708T>C (p.Ile236=) c.693T>C (p.Ile231=) | |
| X | g.153870486A>T | CA519209319 | L1CAM | c.708T>A (p.Ile236=) c.693T>A (p.Ile231=) | |
| X | g.153870487A= | CA2466507177 | L1CAM | c.707T= (p.Ile236=) c.692T= (p.Ile231=) | |
| X | g.153870487A>C | CA415133480 | L1CAM | c.707T>G (p.Ile236Ser) c.692T>G (p.Ile231Ser) | |
| X | g.153870487A>G | CA415133483 | L1CAM | c.707T>C (p.Ile236Thr) c.692T>C (p.Ile231Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870487A>T | CA415133486 | L1CAM | c.707T>A (p.Ile236Asn) c.692T>A (p.Ile231Asn) | |
| X | g.153870488T>A | CA415133491 | L1CAM | c.706A>T (p.Ile236Phe) c.691A>T (p.Ile231Phe) | |
| X | g.153870488T>C | CA415133493 | L1CAM | c.706A>G (p.Ile236Val) c.691A>G (p.Ile231Val) | |
| X | g.153870488T>G | CA415133495 | L1CAM | c.706A>C (p.Ile236Leu) c.691A>C (p.Ile231Leu) | |
| X | g.153870489C>A | CA415133501 | L1CAM | c.705G>T (p.Met235Ile) c.690G>T (p.Met230Ile) | |
| X | g.153870489C>G | CA415133503 | L1CAM | c.705G>C (p.Met235Ile) c.690G>C (p.Met230Ile) | |
| X | g.153870489C>T | CA415133514 | L1CAM | c.705G>A (p.Met235Ile) c.690G>A (p.Met230Ile) | |
| X | g.153870490A= | CA2466507178 | L1CAM | c.704T= (p.Met235=) c.689T= (p.Met230=) | |
| X | g.153870490A>C | CA415133517 | L1CAM | c.704T>G (p.Met235Arg) c.689T>G (p.Met230Arg) | gnomAD v4 |
| X | g.153870490A>G | CA415133522 | L1CAM | c.704T>C (p.Met235Thr) c.689T>C (p.Met230Thr) | ClinVar dbSNP |
| X | g.153870490A>T | CA415133520 | L1CAM | c.704T>A (p.Met235Lys) c.689T>A (p.Met230Lys) | COSMIC |
| X | g.153870491T>A | CA415133524 | L1CAM | c.703A>T (p.Met235Leu) c.688A>T (p.Met230Leu) | |
| X | g.153870491T>C | CA415133528 | L1CAM | c.703A>G (p.Met235Val) c.688A>G (p.Met230Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870491T>G | CA415133525 | L1CAM | c.703A>C (p.Met235Leu) c.688A>C (p.Met230Leu) | |
| X | g.153870491T= | CA2466507179 | L1CAM | c.703A= (p.Met235=) c.688A= (p.Met230=) | |
| X | g.153870492G>A | CA519209347 | L1CAM | c.702C>T (p.Ser234=) c.687C>T (p.Ser229=) | dbSNP |
| X | g.153870492G>C | CA415133532 | L1CAM | c.702C>G (p.Ser234Arg) c.687C>G (p.Ser229Arg) | |
| X | g.153870492G= | CA2466507180 | L1CAM | c.702C= (p.Ser234=) c.687C= (p.Ser229=) | |
| X | g.153870492G>T | CA415133533 | L1CAM | c.702C>A (p.Ser234Arg) c.687C>A (p.Ser229Arg) | dbSNP |
| X | g.153870493C>A | CA415133535 | L1CAM | c.701G>T (p.Ser234Ile) c.686G>T (p.Ser229Ile) | |
| X | g.153870493C= | CA2466507181 | L1CAM | c.701G= (p.Ser234=) c.686G= (p.Ser229=) | |
| X | g.153870493C>G | CA415133540 | L1CAM | c.701G>C (p.Ser234Thr) c.686G>C (p.Ser229Thr) | gnomAD v4 |
| X | g.153870493C>T | CA415133538 | L1CAM | c.701G>A (p.Ser234Asn) c.686G>A (p.Ser229Asn) | dbSNP gnomAD v4 |
| X | g.153870494T>A | CA415133544 | L1CAM | c.700A>T (p.Ser234Cys) c.685A>T (p.Ser229Cys) | |
| X | g.153870494T>C | CA415133548 | L1CAM | c.700A>G (p.Ser234Gly) c.685A>G (p.Ser229Gly) | |
| X | g.153870494T>G | CA415133546 | L1CAM | c.700A>C (p.Ser234Arg) c.685A>C (p.Ser229Arg) | |
| X | g.153870495G>A | CA519209357 | L1CAM | c.699C>T (p.Asn233=) c.684C>T (p.Asn228=) | dbSNP gnomAD v4 |
| X | g.153870495G>C | CA415133551 | L1CAM | c.699C>G (p.Asn233Lys) c.684C>G (p.Asn228Lys) | |
| X | g.153870495G= | CA2466507182 | L1CAM | c.699C= (p.Asn233=) c.684C= (p.Asn228=) | |
| X | g.153870495G>T | CA415133553 | L1CAM | c.699C>A (p.Asn233Lys) c.684C>A (p.Asn228Lys) | COSMIC |
| X | g.153870496T>A | CA415133556 | L1CAM | c.698A>T (p.Asn233Ile) c.683A>T (p.Asn228Ile) | |
| X | g.153870496T>C | CA415133558 | L1CAM | c.698A>G (p.Asn233Ser) c.683A>G (p.Asn228Ser) | gnomAD v4 |
| X | g.153870496T>G | CA415133561 | L1CAM | c.698A>C (p.Asn233Thr) c.683A>C (p.Asn228Thr) | |
| X | g.153870497T>A | CA415133565 | L1CAM | c.697A>T (p.Asn233Tyr) c.682A>T (p.Asn228Tyr) | |
| X | g.153870497T>C | CA415133567 | L1CAM | c.697A>G (p.Asn233Asp) c.682A>G (p.Asn228Asp) | |
| X | g.153870497T>G | CA415133570 | L1CAM | c.697A>C (p.Asn233His) c.682A>C (p.Asn228His) | |
| X | g.153870498G>A | CA337263603 | L1CAM | c.696C>T (p.Thr232=) c.681C>T (p.Thr227=) | dbSNP |
| X | g.153870498G>C | CA519209373 | L1CAM | c.696C>G (p.Thr232=) c.681C>G (p.Thr227=) | ClinVar gnomAD v4 |
| X | g.153870498G= | CA2466507183 | L1CAM | c.696C= (p.Thr232=) c.681C= (p.Thr227=) | |
| X | g.153870498G>T | CA519209376 | L1CAM | c.696C>A (p.Thr232=) c.681C>A (p.Thr227=) | |
| X | g.153870499del | CA2579733007 | L1CAM | c.696del (p.Asn233ThrfsTer3) c.681del (p.Asn228ThrfsTer3) | |
| X | g.153870499G>A | CA415133573 | L1CAM | c.695C>T (p.Thr232Ile) c.680C>T (p.Thr227Ile) | |
| X | g.153870499G>C | CA415133574 | L1CAM | c.695C>G (p.Thr232Ser) c.680C>G (p.Thr227Ser) | |
| X | g.153870499G>T | CA415133576 | L1CAM | c.695C>A (p.Thr232Asn) c.680C>A (p.Thr227Asn) | |
| X | g.153870500C>A | CA415133583 | L1CAM | c.695-1G>T (n.695-1G>T) c.680-1G>T (n.680-1G>T) | |
| X | g.153870500C>G | CA415133579 | L1CAM | c.695-1G>C (n.695-1G>C) c.680-1G>C (n.680-1G>C) | |
| X | g.153870500C>T | CA415133581 | L1CAM | c.695-1G>A (n.695-1G>A) c.680-1G>A (n.680-1G>A) | |
| X | g.153870501T>A | CA415133586 | L1CAM | c.695-2A>T (n.695-2A>T) c.680-2A>T (n.680-2A>T) | |
| X | g.153870501T>C | CA415133589 | L1CAM | c.695-2A>G (n.695-2A>G) c.680-2A>G (n.680-2A>G) | |
| X | g.153870501T>G | CA415133591 | L1CAM | c.695-2A>C (n.695-2A>C) c.680-2A>C (n.680-2A>C) | |
| X | g.153870502G>T | CA2579733008 | L1CAM | c.695-3C>A (n.695-3C>A) c.680-3C>A (n.680-3C>A) | |
| X | g.153870503C>A | CA2695068622 | L1CAM | c.695-4G>T (n.695-4G>T) c.680-4G>T (n.680-4G>T) | gnomAD v4 |
| X | g.153870503C>T | CA1138548944 | L1CAM | c.695-4G>A (n.695-4G>A) c.680-4G>A (n.680-4G>A) | gnomAD v4 |
| X | g.153870504C>A | CA2554555346 | L1CAM | c.695-5G>T (n.695-5G>T) c.680-5G>T (n.680-5G>T) | |
| X | g.153870504C= | CA2466507184 | L1CAM | c.695-5G= (n.695-5G=) c.680-5G= (n.680-5G=) | |
| X | g.153870504C>T | CA10554521 | L1CAM | c.695-5G>A (n.695-5G>A) c.680-5G>A (n.680-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870505A>C | CA2695068623 | L1CAM | c.695-6T>G (n.695-6T>G) c.680-6T>G (n.680-6T>G) | gnomAD v4 |
| X | g.153870505_153870506del | CA2579733009 | L1CAM | c.695-7_695-6del (n.695-7_695-6del) c.680-7_680-6del (n.680-7_680-6del) | |
| X | g.153870506G>T | CA2695068624 | L1CAM | c.695-7C>A (n.695-7C>A) c.680-7C>A (n.680-7C>A) | gnomAD v4 |
| X | g.153870507G>A | CA10554522 | L1CAM | c.695-8C>T (n.695-8C>T) c.680-8C>T (n.680-8C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.153870507G= | CA2466507185 | L1CAM | c.695-8C= (n.695-8C=) c.680-8C= (n.680-8C=) | |
| X | g.153870509G>A | CA10554523 | L1CAM | c.695-10C>T (n.695-10C>T) c.680-10C>T (n.680-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870509G= | CA2466507186 | L1CAM | c.695-10C= (n.695-10C=) c.680-10C= (n.680-10C=) | |
| X | g.153870509G>T | CA2695068625 | L1CAM | c.695-10C>A (n.695-10C>A) c.680-10C>A (n.680-10C>A) | gnomAD v4 |
| X | g.153870510A>G | CA2579733010 | L1CAM | c.695-11T>C (n.695-11T>C) c.680-11T>C (n.680-11T>C) | |
| X | g.153870511A>C | CA2824264252 | L1CAM | c.695-12T>G (n.695-12T>G) c.680-12T>G (n.680-12T>G) | |
| X | g.153870511A>G | CA2695068626 | L1CAM | c.695-12T>C (n.695-12T>C) c.680-12T>C (n.680-12T>C) | gnomAD v4 |
| X | g.153870513G>A | CA2695068627 | L1CAM | c.695-14C>T (n.695-14C>T) c.680-14C>T (n.680-14C>T) | gnomAD v4 |
| X | g.153870513G>C | CA2695068628 | L1CAM | c.695-14C>G (n.695-14C>G) c.680-14C>G (n.680-14C>G) | gnomAD v4 |
| X | g.153870513G= | CA2466507187 | L1CAM | c.695-14C= (n.695-14C=) c.680-14C= (n.680-14C=) | |
| X | g.153870513G>T | CA10554524 | L1CAM | c.695-14C>A (n.695-14C>A) c.680-14C>A (n.680-14C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870522_153870525del | CA2579733011 | L1CAM | c.695-17_695-14del (n.695-17_695-14del) c.680-17_680-14del (n.680-17_680-14del) | gnomAD v4 |
| X | g.153870515G>T | CA2695068629 | L1CAM | c.695-16C>A (n.695-16C>A) c.680-16C>A (n.680-16C>A) | gnomAD v4 |
| X | g.153870517del | CA2579733012 | L1CAM | c.695-16del (n.695-16del) c.680-16del (n.680-16del) | |
| X | g.153870516G>T | CA2695068630 | L1CAM | c.695-17C>A (n.695-17C>A) c.680-17C>A (n.680-17C>A) | gnomAD v4 |
| X | g.153870518_153870520dup | CA2697544840 | L1CAM | c.695-19_695-17dup (n.695-19_695-17dup) c.680-19_680-17dup (n.680-19_680-17dup) | ClinVar |
| X | g.153870517G>A | CA2695068631 | L1CAM | c.695-18C>T (n.695-18C>T) c.680-18C>T (n.680-18C>T) | gnomAD v4 |
| X | g.153870517G>T | CA2695068632 | L1CAM | c.695-18C>A (n.695-18C>A) c.680-18C>A (n.680-18C>A) | gnomAD v4 |
| X | g.153870518T>G | CA2697544841 | L1CAM | c.695-19A>C (n.695-19A>C) c.680-19A>C (n.680-19A>C) | ClinVar |
| X | g.153870519G>T | CA658515085 | L1CAM | c.695-20C>A (n.695-20C>A) c.680-20C>A (n.680-20C>A) | gnomAD v4 COSMIC |
| X | g.153870520G>A | CA10554525 | L1CAM | c.695-21C>T (n.695-21C>T) c.680-21C>T (n.680-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870520G= | CA2466507188 | L1CAM | c.695-21C= (n.695-21C=) c.680-21C= (n.680-21C=) | |
| X | g.153870520G>T | CA2579733013 | L1CAM | c.695-21C>A (n.695-21C>A) c.680-21C>A (n.680-21C>A) | gnomAD v4 |
| X | g.153870521G>A | CA2695068633 | L1CAM | c.695-22C>T (n.695-22C>T) c.680-22C>T (n.680-22C>T) | gnomAD v4 |
| X | g.153870521G>C | CA2695068634 | L1CAM | c.695-22C>G (n.695-22C>G) c.680-22C>G (n.680-22C>G) | gnomAD v4 |
| X | g.153870521G>T | CA2579733014 | L1CAM | c.695-22C>A (n.695-22C>A) c.680-22C>A (n.680-22C>A) | |
| X | g.153870521_153870522delinsGT | CA2466507189 | L1CAM | c.695-23_695-22delinsAC (n.695-23_695-22delinsAC) c.680-23_680-22delinsAC (n.680-23_680-22delinsAC) | |
| X | g.153870522del | CA920450210 | L1CAM | c.695-23del (n.695-23del) c.680-23del (n.680-23del) | dbSNP gnomAD v4 |
| X | g.153870522T>G | CA2695068635 | L1CAM | c.695-23A>C (n.695-23A>C) c.680-23A>C (n.680-23A>C) | gnomAD v4 |
| X | g.153870523G>T | CA2695068636 | L1CAM | c.695-24C>A (n.695-24C>A) c.680-24C>A (n.680-24C>A) | gnomAD v4 |
| X | g.153870525del | CA2521407566 | L1CAM | c.695-24del (n.695-24del) c.680-24del (n.680-24del) | |
| X | g.153870523_153870526del | CA2579733015 | L1CAM | c.695-27_695-24del (n.695-27_695-24del) c.680-27_680-24del (n.680-27_680-24del) | gnomAD v4 |
| X | g.153870525G>T | CA2695068637 | L1CAM | c.695-26C>A (n.695-26C>A) c.680-26C>A (n.680-26C>A) | gnomAD v4 |
| X | g.153870526C>A | CA2466507191 | L1CAM | c.695-27G>T (n.695-27G>T) c.680-27G>T (n.680-27G>T) | dbSNP |
| X | g.153870526C= | CA2466507190 | L1CAM | c.695-27G= (n.695-27G=) c.680-27G= (n.680-27G=) | |
| X | g.153870526C>T | CA10554526 | L1CAM | c.695-27G>A (n.695-27G>A) c.680-27G>A (n.680-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870527T>A | CA2695068638 | L1CAM | c.695-28A>T (n.695-28A>T) c.680-28A>T (n.680-28A>T) | gnomAD v4 |
| X | g.153870528G>A | CA2579733016 | L1CAM | c.695-29C>T (n.695-29C>T) c.680-29C>T (n.680-29C>T) | gnomAD v4 |
| X | g.153870528G= | CA2466507192 | L1CAM | c.695-29C= (n.695-29C=) c.680-29C= (n.680-29C=) | |
| X | g.153870528G>T | CA10554527 | L1CAM | c.695-29C>A (n.695-29C>A) c.680-29C>A (n.680-29C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870529C>A | CA2579733018 | L1CAM | c.695-30G>T (n.695-30G>T) c.680-30G>T (n.680-30G>T) | |
| X | g.153870529C>T | CA2695068639 | L1CAM | c.695-30G>A (n.695-30G>A) c.680-30G>A (n.680-30G>A) | gnomAD v4 |
| X | g.153870531del | CA2579733017 | L1CAM | c.695-30del (n.695-30del) c.680-30del (n.680-30del) | gnomAD v4 |
| X | g.153870530C= | CA2466507193 | L1CAM | c.695-31G= (n.695-31G=) c.680-31G= (n.680-31G=) | |
| X | g.153870530C>G | CA10554528 | L1CAM | c.695-31G>C (n.695-31G>C) c.680-31G>C (n.680-31G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870530C>T | CA2547760802 | L1CAM | c.695-31G>A (n.695-31G>A) c.680-31G>A (n.680-31G>A) | |
| X | g.153870531C>A | CA2695068640 | L1CAM | c.695-32G>T (n.695-32G>T) c.680-32G>T (n.680-32G>T) | gnomAD v4 |
| X | g.153870532A>C | CA2695068641 | L1CAM | c.695-33T>G (n.695-33T>G) c.680-33T>G (n.680-33T>G) | gnomAD v4 |
| X | g.153870533C>G | CA2695068642 | L1CAM | c.695-34G>C (n.695-34G>C) c.680-34G>C (n.680-34G>C) | gnomAD v4 |
| X | g.153870533C>T | CA2500392830 | L1CAM | c.695-34G>A (n.695-34G>A) c.680-34G>A (n.680-34G>A) | gnomAD v4 |
| X | g.153870534T>A | CA10554529 | L1CAM | c.695-35A>T (n.695-35A>T) c.680-35A>T (n.680-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870534T= | CA2466507194 | L1CAM | c.695-35A= (n.695-35A=) c.680-35A= (n.680-35A=) | |
| X | g.153870535C>A | CA2695068643 | L1CAM | c.695-36G>T (n.695-36G>T) c.680-36G>T (n.680-36G>T) | gnomAD v4 |
| X | g.153870535C= | CA2466507195 | L1CAM | c.695-36G= (n.695-36G=) c.680-36G= (n.680-36G=) | |
| X | g.153870535C>G | CA645152404 | L1CAM | c.695-36G>C (n.695-36G>C) c.680-36G>C (n.680-36G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870536T>G | CA2824264261 | L1CAM | c.695-37A>C (n.695-37A>C) c.680-37A>C (n.680-37A>C) | |
| X | g.153870538C>A | CA2695068644 | L1CAM | c.695-39G>T (n.695-39G>T) c.680-39G>T (n.680-39G>T) | gnomAD v4 |
| X | g.153870538C= | CA2466507196 | L1CAM | c.695-39G= (n.695-39G=) c.680-39G= (n.680-39G=) | |
| X | g.153870538C>T | CA645152406 | L1CAM | c.695-39G>A (n.695-39G>A) c.680-39G>A (n.680-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870539C>A | CA2695068645 | L1CAM | c.695-40G>T (n.695-40G>T) c.680-40G>T (n.680-40G>T) | gnomAD v4 |
| X | g.153870539C>T | CA2579733019 | L1CAM | c.695-40G>A (n.695-40G>A) c.680-40G>A (n.680-40G>A) | |
| X | g.153870540C>A | CA2579733020 | L1CAM | c.695-41G>T (n.695-41G>T) c.680-41G>T (n.680-41G>T) | |
| X | g.153870542C>A | CA2695068646 | L1CAM | c.695-43G>T (n.695-43G>T) c.680-43G>T (n.680-43G>T) | gnomAD v4 |
| X | g.153870543C>A | CA2579733021 | L1CAM | c.695-44G>T (n.695-44G>T) c.680-44G>T (n.680-44G>T) | |
| X | g.153870545C= | CA2466507197 | L1CAM | c.695-46G= (n.695-46G=) c.680-46G= (n.680-46G=) | |
| X | g.153870545C>T | CA10554530 | L1CAM | c.695-46G>A (n.695-46G>A) c.680-46G>A (n.680-46G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870548del | CA2579733022 | L1CAM | c.695-46del (n.695-46del) c.680-46del (n.680-46del) | |
| X | g.153870546C>G | CA2579733023 | L1CAM | c.695-47G>C (n.695-47G>C) c.680-47G>C (n.680-47G>C) | |
| X | g.153870546_153870547insAAA | CA2824264292 | L1CAM | c.695-48_695-47insTTT (n.695-48_695-47insTTT) c.680-48_680-47insTTT (n.680-48_680-47insTTT) | |
| X | g.153870547C>A | CA337263636 | L1CAM | c.695-48G>T (n.695-48G>T) c.680-48G>T (n.680-48G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870547C= | CA2466507198 | L1CAM | c.695-48G= (n.695-48G=) c.680-48G= (n.680-48G=) | |
| X | g.153870547_153870548insACACCCAACA | CA2824264297 | L1CAM | c.695-49_695-48insTGTTGGGTGT (n.695-49_695-48insTGTTGGGTGT) c.680-49_680-48insTGTTGGGTGT (n.680-49_680-48insTGTTGGGTGT) | |
| X | g.153870548C= | CA2466507199 | L1CAM | c.695-49G= (n.695-49G=) c.680-49G= (n.680-49G=) | |
| X | g.153870548C>T | CA10554531 | L1CAM | c.695-49G>A (n.695-49G>A) c.680-49G>A (n.680-49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870550G>A | CA2695068647 | L1CAM | c.695-51C>T (n.695-51C>T) c.680-51C>T (n.680-51C>T) | gnomAD v4 |
| X | g.153870550_153870551insCCAAACACACCCAACAC | CA2824264299 | L1CAM | c.695-52_695-51insGTGTTGGGTGTGTTTGG (n.695-52_695-51insGTGTTGGGTGTGTTTGG) c.680-52_680-51insGTGTTGGGTGTGTTTGG (n.680-52_680-51insGTGTTGGGTGTGTTTGG) | |
| X | g.153870551A>G | CA2695068648 | L1CAM | c.695-52T>C (n.695-52T>C) c.680-52T>C (n.680-52T>C) | gnomAD v4 |
| X | g.153870551_153870552insCACACCCAACAC | CA2824264302 | L1CAM | c.695-53_695-52insGTGTTGGGTGTG (n.695-53_695-52insGTGTTGGGTGTG) c.680-53_680-52insGTGTTGGGTGTG (n.680-53_680-52insGTGTTGGGTGTG) | |
| X | g.153870555G>T | CA2695068649 | L1CAM | c.695-56C>A (n.695-56C>A) c.680-56C>A (n.680-56C>A) | gnomAD v4 |
| X | g.153870556C>T | CA2824264304 | L1CAM | c.695-57G>A (n.695-57G>A) c.680-57G>A (n.680-57G>A) | |
| X | g.153870560G>A | CA1138548954 | L1CAM | c.695-61C>T (n.695-61C>T) c.680-61C>T (n.680-61C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870560G= | CA2466507200 | L1CAM | c.695-61C= (n.695-61C=) c.680-61C= (n.680-61C=) | |
| X | g.153870560G>T | CA2695068650 | L1CAM | c.695-61C>A (n.695-61C>A) c.680-61C>A (n.680-61C>A) | gnomAD v4 |
| X | g.153870561C>A | CA2695068651 | L1CAM | c.695-62G>T (n.695-62G>T) c.680-62G>T (n.680-62G>T) | gnomAD v4 |
| X | g.153870562T>C | CA2695068652 | L1CAM | c.695-63A>G (n.695-63A>G) c.680-63A>G (n.680-63A>G) | gnomAD v4 |
| X | g.153870563G>T | CA2695068653 | L1CAM | c.695-64C>A (n.695-64C>A) c.680-64C>A (n.680-64C>A) | gnomAD v4 |
| X | g.153870564A>G | CA2602676605 | L1CAM | c.695-65T>C (n.695-65T>C) c.680-65T>C (n.680-65T>C) | gnomAD v3 gnomAD v4 |
| X | g.153870565G>A | CA2466507202 | L1CAM | c.695-66C>T (n.695-66C>T) c.680-66C>T (n.680-66C>T) | dbSNP gnomAD v4 |
| X | g.153870565G= | CA2466507201 | L1CAM | c.695-66C= (n.695-66C=) c.680-66C= (n.680-66C=) | |
| X | g.153870567G>T | CA2554047900 | L1CAM | c.695-68C>A (n.695-68C>A) c.680-68C>A (n.680-68C>A) | gnomAD v4 |
| X | g.153870572_153870578del | CA2695068654 | L1CAM | c.695-75_695-69del (n.695-75_695-69del) c.680-75_680-69del (n.680-75_680-69del) | dbSNP gnomAD v4 |
| X | g.153870569C>G | CA2579733024 | L1CAM | c.695-70G>C (n.695-70G>C) c.680-70G>C (n.680-70G>C) | gnomAD v4 |
| X | g.153870569C>T | CA2579733025 | L1CAM | c.695-70G>A (n.695-70G>A) c.680-70G>A (n.680-70G>A) | |
| X | g.153870571C>A | CA2695068655 | L1CAM | c.695-72G>T (n.695-72G>T) c.680-72G>T (n.680-72G>T) | gnomAD v4 |
| X | g.153870571C= | CA2466507203 | L1CAM | c.695-72G= (n.695-72G=) c.680-72G= (n.680-72G=) | |
| X | g.153870571C>T | CA645152410 | L1CAM | c.695-72G>A (n.695-72G>A) c.680-72G>A (n.680-72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870572G>A | CA337263640 | L1CAM | c.695-73C>T (n.695-73C>T) c.680-73C>T (n.680-73C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870572G>C | CA2532525262 | L1CAM | c.695-73C>G (n.695-73C>G) c.680-73C>G (n.680-73C>G) | gnomAD v4 |
| X | g.153870572G= | CA2466507204 | L1CAM | c.695-73C= (n.695-73C=) c.680-73C= (n.680-73C=) | |
| X | g.153870572G>T | CA873291444 | L1CAM | c.695-73C>A (n.695-73C>A) c.680-73C>A (n.680-73C>A) | dbSNP |
| X | g.153870574C>A | CA337263643 | L1CAM | c.695-75G>T (n.695-75G>T) c.680-75G>T (n.680-75G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870574C= | CA2466507205 | L1CAM | c.695-75G= (n.695-75G=) c.680-75G= (n.680-75G=) | |
| X | g.153870575_153870576delinsAC | CA2466507206 | L1CAM | c.695-77_695-76delinsGT (n.695-77_695-76delinsGT) c.680-77_680-76delinsGT (n.680-77_680-76delinsGT) | |
| X | g.153870576del | CA2466507208 | L1CAM | c.695-77del (n.695-77del) c.680-77del (n.680-77del) | dbSNP |
| X | g.153870576C= | CA2466507207 | L1CAM | c.695-77G= (n.695-77G=) c.680-77G= (n.680-77G=) | |
| X | g.153870576C>T | CA873291449 | L1CAM | c.695-77G>A (n.695-77G>A) c.680-77G>A (n.680-77G>A) | dbSNP gnomAD v4 |
| X | g.153870577_153870578del | CA2695068656 | L1CAM | c.695-78_695-77del (n.695-78_695-77del) c.680-78_680-77del (n.680-78_680-77del) | gnomAD v4 |
| X | g.153870577T>C | CA1138548960 | L1CAM | c.695-78A>G (n.695-78A>G) c.680-78A>G (n.680-78A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870577T= | CA2466507209 | L1CAM | c.695-78A= (n.695-78A=) c.680-78A= (n.680-78A=) |