Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153870409_153870416del | CA2695236875 | L1CAM | c.778_785del (p.Leu260GlyfsTer?) c.763_770del (p.Leu255GlyfsTer?) | |
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 |
X | g.153870417T>G | CA519208872 | L1CAM | c.777A>C (p.Pro259=) c.762A>C (p.Pro254=) | |
X | g.153870418G>A | CA415133085 | L1CAM | c.776C>T (p.Pro259Leu) c.761C>T (p.Pro254Leu) | |
X | g.153870418G>C | CA415133090 | L1CAM | c.776C>G (p.Pro259Arg) c.761C>G (p.Pro254Arg) | |
X | g.153870418G>T | CA415133087 | L1CAM | c.776C>A (p.Pro259Gln) c.761C>A (p.Pro254Gln) | |
X | g.153870419del | CA2579733003 | L1CAM | c.776del (p.Pro259HisfsTer?) c.761del (p.Pro254HisfsTer?) | |
X | g.153870419G>A | CA415133094 | L1CAM | c.775C>T (p.Pro259Ser) c.760C>T (p.Pro254Ser) | |
X | g.153870419G>C | CA415133097 | L1CAM | c.775C>G (p.Pro259Ala) c.760C>G (p.Pro254Ala) | |
X | g.153870419G>T | CA415133095 | L1CAM | c.775C>A (p.Pro259Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
X | g.153870419_153870476delinsCTGTCAATGT | CA2499226460 | L1CAM | c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) c.703_760delinsACATTGACAG (p.Pro235_Pro254delinsThrLeuThrAla) | ClinVar dbSNP |
X | g.153870420C>A | CA415133100 | L1CAM | c.774G>T (p.Gln258His) c.759G>T (p.Gln253His) | |
X | g.153870420C= | CA2466507154 | L1CAM | c.774G= (p.Gln258=) c.759G= (p.Gln253=) | |
X | g.153870420C>G | CA415133102 | L1CAM | c.774G>C (p.Gln258His) c.759G>C (p.Gln253His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153870420C>T | CA337263561 | L1CAM | c.774G>A (p.Gln258=) c.759G>A (p.Gln253=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153870421T>A | CA415133104 | L1CAM | c.773A>T (p.Gln258Leu) c.758A>T (p.Gln253Leu) | |
X | g.153870421T>C | CA415133107 | L1CAM | c.773A>G (p.Gln258Arg) c.758A>G (p.Gln253Arg) | |
X | g.153870421T>G | CA415133110 | L1CAM | c.773A>C (p.Gln258Pro) c.758A>C (p.Gln253Pro) | |
X | g.153870422G>A | CA415133113 | L1CAM | c.772C>T (p.Gln258Ter) c.757C>T (p.Gln253Ter) | |
X | g.153870422G>C | CA415133114 | L1CAM | c.772C>G (p.Gln258Glu) c.757C>G (p.Gln253Glu) | dbSNP |
X | g.153870422G= | CA2466507155 | L1CAM | c.772C= (p.Gln258=) c.757C= (p.Gln253=) | |
X | g.153870422G>T | CA415133116 | L1CAM | c.772C>A (p.Gln258Lys) c.757C>A (p.Gln253Lys) | |
X | g.153870423C>A | CA10554508 | L1CAM | c.771G>T (p.Gly257=) c.756G>T (p.Gly252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870423C= | CA2466507156 | L1CAM | c.771G= (p.Gly257=) c.756G= (p.Gly252=) | |
X | g.153870423C>G | CA519208906 | L1CAM | c.771G>C (p.Gly257=) c.756G>C (p.Gly252=) | |
X | g.153870423C>T | CA519208911 | L1CAM | c.771G>A (p.Gly257=) c.756G>A (p.Gly252=) | dbSNP gnomAD v4 |
X | g.153870424C>A | CA415133127 | L1CAM | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) | COSMIC |
X | g.153870424C>G | CA415133124 | L1CAM | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) | |
X | g.153870424C>T | CA415133122 | L1CAM | c.770G>A (p.Gly257Glu) c.755G>A (p.Gly252Glu) | |
X | g.153870425C>A | CA415133129 | L1CAM | c.769G>T (p.Gly257Trp) c.754G>T (p.Gly252Trp) | |
X | g.153870425C>G | CA415133132 | L1CAM | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) | |
X | g.153870425C>T | CA415133135 | L1CAM | c.769G>A (p.Gly257Arg) c.754G>A (p.Gly252Arg) | ClinVar dbSNP gnomAD v4 |
X | g.153870426C>A | CA415133136 | L1CAM | c.768G>T (p.Gln256His) c.753G>T (p.Gln251His) | |
X | g.153870426C>G | CA415133138 | L1CAM | c.768G>C (p.Gln256His) c.753G>C (p.Gln251His) | |
X | g.153870426C>T | CA519208931 | L1CAM | c.768G>A (p.Gln256=) c.753G>A (p.Gln251=) |