| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153870403C>A | CA415132966 | L1CAM | c.791G>T (p.Cys264Phe) c.776G>T (p.Cys259Phe) | ClinVar dbSNP |
| X | g.153870403C= | CA2466507149 | L1CAM | c.791G= (p.Cys264=) c.776G= (p.Cys259=) | |
| X | g.153870403C>G | CA415132969 | L1CAM | c.791G>C (p.Cys264Ser) c.776G>C (p.Cys259Ser) | |
| X | g.153870403C>T | CA254954 | L1CAM | c.791G>A (p.Cys264Tyr) c.776G>A (p.Cys259Tyr) | ClinVar dbSNP |
| X | g.153870404A>C | CA415132985 | L1CAM | c.790T>G (p.Cys264Gly) c.775T>G (p.Cys259Gly) | |
| X | g.153870404A>G | CA415132988 | L1CAM | c.790T>C (p.Cys264Arg) c.775T>C (p.Cys259Arg) | |
| X | g.153870404A>T | CA415132976 | L1CAM | c.790T>A (p.Cys264Ser) c.775T>A (p.Cys259Ser) | |
| X | g.153870405C>A | CA415132993 | L1CAM | c.789G>T (p.Glu263Asp) c.774G>T (p.Glu258Asp) | |
| X | g.153870405C>G | CA415132996 | L1CAM | c.789G>C (p.Glu263Asp) c.774G>C (p.Glu258Asp) | |
| X | g.153870405C>T | CA519208785 | L1CAM | c.789G>A (p.Glu263=) c.774G>A (p.Glu258=) | gnomAD v4 |
| X | g.153870406T>A | CA415133000 | L1CAM | c.788A>T (p.Glu263Val) c.773A>T (p.Glu258Val) | |
| X | g.153870406T>C | CA415133002 | L1CAM | c.788A>G (p.Glu263Gly) c.773A>G (p.Glu258Gly) | |
| X | g.153870406T>G | CA415133003 | L1CAM | c.788A>C (p.Glu263Ala) c.773A>C (p.Glu258Ala) | |
| X | g.153870407C>A | CA415133006 | L1CAM | c.787G>T (p.Glu263Ter) c.772G>T (p.Glu258Ter) | |
| X | g.153870407C>G | CA415133014 | L1CAM | c.787G>C (p.Glu263Gln) c.772G>C (p.Glu258Gln) | |
| X | g.153870407C>T | CA415133016 | L1CAM | c.787G>A (p.Glu263Lys) c.772G>A (p.Glu258Lys) | |
| X | g.153870408C>A | CA519208802 | L1CAM | c.786G>T (p.Leu262=) c.771G>T (p.Leu257=) | |
| X | g.153870408C>G | CA519208810 | L1CAM | c.786G>C (p.Leu262=) c.771G>C (p.Leu257=) | |
| X | g.153870408C>T | CA519208806 | L1CAM | c.786G>A (p.Leu262=) c.771G>A (p.Leu257=) | gnomAD v4 |
| X | g.153870409A= | CA2466507150 | L1CAM | c.785T= (p.Leu262=) c.770T= (p.Leu257=) | |
| X | g.153870409A>C | CA415133019 | L1CAM | c.785T>G (p.Leu262Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP |
| X | g.153870409A>G | CA415133022 | L1CAM | c.785T>C (p.Leu262Pro) c.770T>C (p.Leu257Pro) | |
| X | g.153870409A>T | CA415133026 | L1CAM | c.785T>A (p.Leu262Gln) c.770T>A (p.Leu257Gln) | |
| X | g.153870409_153870416del | CA2695236875 | L1CAM | c.778_785del (p.Leu260GlyfsTer?) c.763_770del (p.Leu255GlyfsTer?) | |
| X | g.153870410G>A | CA519208822 | L1CAM | c.784C>T (p.Leu262=) c.769C>T (p.Leu257=) | dbSNP gnomAD v4 |
| X | g.153870410G>C | CA415133028 | L1CAM | c.784C>G (p.Leu262Val) c.769C>G (p.Leu257Val) | |
| X | g.153870410G= | CA2466507151 | L1CAM | c.784C= (p.Leu262=) c.769C= (p.Leu257=) | |
| X | g.153870410G>T | CA415133032 | L1CAM | c.784C>A (p.Leu262Met) c.769C>A (p.Leu257Met) | |
| X | g.153870411G>A | CA519208832 | L1CAM | c.783C>T (p.Val261=) c.768C>T (p.Val256=) | |
| X | g.153870411G>C | CA519208834 | L1CAM | c.783C>G (p.Val261=) c.768C>G (p.Val256=) | |
| X | g.153870411G>T | CA519208836 | L1CAM | c.783C>A (p.Val261=) c.768C>A (p.Val256=) | |
| X | g.153870412A>C | CA415133044 | L1CAM | c.782T>G (p.Val261Gly) c.767T>G (p.Val256Gly) | |
| X | g.153870412A>G | CA415133051 | L1CAM | c.782T>C (p.Val261Ala) c.767T>C (p.Val256Ala) | |
| X | g.153870412A>T | CA415133049 | L1CAM | c.782T>A (p.Val261Asp) c.767T>A (p.Val256Asp) | |
| X | g.153870413C>A | CA415133056 | L1CAM | c.781G>T (p.Val261Phe) c.766G>T (p.Val256Phe) | |
| X | g.153870413C= | CA2466507152 | L1CAM | c.781G= (p.Val261=) c.766G= (p.Val256=) | |
| X | g.153870413C>G | CA415133058 | L1CAM | c.781G>C (p.Val261Leu) c.766G>C (p.Val256Leu) | dbSNP |
| X | g.153870413C>T | CA415133062 | L1CAM | c.781G>A (p.Val261Ile) c.766G>A (p.Val256Ile) | |
| X | g.153870414C>A | CA415133065 | L1CAM | c.780G>T (p.Leu260Phe) c.765G>T (p.Leu255Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870414C= | CA2466507153 | L1CAM | c.780G= (p.Leu260=) c.765G= (p.Leu255=) | |
| X | g.153870414C>G | CA415133067 | L1CAM | c.780G>C (p.Leu260Phe) c.765G>C (p.Leu255Phe) | |
| X | g.153870414C>T | CA519208854 | L1CAM | c.780G>A (p.Leu260=) c.765G>A (p.Leu255=) | dbSNP |
| X | g.153870415A>C | CA415133069 | L1CAM | c.779T>G (p.Leu260Trp) c.764T>G (p.Leu255Trp) | |
| X | g.153870415A>G | CA415133073 | L1CAM | c.779T>C (p.Leu260Ser) c.764T>C (p.Leu255Ser) | |
| X | g.153870415A>T | CA415133077 | L1CAM | c.779T>A (p.Leu260Ter) c.764T>A (p.Leu255Ter) | |
| X | g.153870416A>C | CA415133079 | L1CAM | c.778T>G (p.Leu260Val) c.763T>G (p.Leu255Val) | |
| X | g.153870416A>G | CA519208868 | L1CAM | c.778T>C (p.Leu260=) c.763T>C (p.Leu255=) | |
| X | g.153870416A>T | CA415133082 | L1CAM | c.778T>A (p.Leu260Met) c.763T>A (p.Leu255Met) | |
| X | g.153870417T>A | CA519208870 | L1CAM | c.777A>T (p.Pro259=) c.762A>T (p.Pro254=) | |
| X | g.153870417T>C | CA519208871 | L1CAM | c.777A>G (p.Pro259=) c.762A>G (p.Pro254=) | ClinVar |