Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153870948A= | CA2466507328 | L1CAM | c.536T= (p.Ile179=) c.521T= (p.Ile174=) | |
X | g.153870948A>C | CA254961 | L1CAM | c.536T>G (p.Ile179Ser) c.521T>G (p.Ile174Ser) | ClinVar dbSNP |
X | g.153870948A>G | CA415135978 | L1CAM | c.536T>C (p.Ile179Thr) c.521T>C (p.Ile174Thr) | |
X | g.153870948A>T | CA415135980 | L1CAM | c.536T>A (p.Ile179Asn) c.521T>A (p.Ile174Asn) | |
X | g.153870949T>A | CA415135984 | L1CAM | c.535A>T (p.Ile179Phe) c.520A>T (p.Ile174Phe) | |
X | g.153870949T>C | CA415135986 | L1CAM | c.535A>G (p.Ile179Val) c.520A>G (p.Ile174Val) | |
X | g.153870949T>G | CA415135987 | L1CAM | c.535A>C (p.Ile179Leu) c.520A>C (p.Ile174Leu) | |
X | g.153870950G>A | CA519344305 | L1CAM | c.534C>T (p.His178=) c.519C>T (p.His173=) | |
X | g.153870950G>C | CA415135988 | L1CAM | c.534C>G (p.His178Gln) c.519C>G (p.His173Gln) | |
X | g.153870950G>T | CA415135989 | L1CAM | c.534C>A (p.His178Gln) c.519C>A (p.His173Gln) | |
X | g.153870951T>A | CA415135990 | L1CAM | c.533A>T (p.His178Leu) c.518A>T (p.His173Leu) | |
X | g.153870951T>C | CA415135991 | L1CAM | c.533A>G (p.His178Arg) c.518A>G (p.His173Arg) | |
X | g.153870951T>G | CA415135993 | L1CAM | c.533A>C (p.His178Pro) c.518A>C (p.His173Pro) | |
X | g.153870952G>A | CA415135999 | L1CAM | c.532C>T (p.His178Tyr) c.517C>T (p.His173Tyr) | |
X | g.153870952G>C | CA415135995 | L1CAM | c.532C>G (p.His178Asp) c.517C>G (p.His173Asp) | |
X | g.153870952G>T | CA415135998 | L1CAM | c.532C>A (p.His178Asn) c.517C>A (p.His173Asn) | |
X | g.153870953C>A | CA415136002 | L1CAM | c.531G>T (p.Leu177Phe) c.516G>T (p.Leu172Phe) | |
X | g.153870953C= | CA2466507329 | L1CAM | c.531G= (p.Leu177=) c.516G= (p.Leu172=) | |
X | g.153870953C>G | CA415136003 | L1CAM | c.531G>C (p.Leu177Phe) c.516G>C (p.Leu172Phe) | |
X | g.153870953C>T | CA519344306 | L1CAM | c.531G>A (p.Leu177=) c.516G>A (p.Leu172=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.153870954A>C | CA415136004 | L1CAM | c.530T>G (p.Leu177Trp) c.515T>G (p.Leu172Trp) | |
X | g.153870954A>G | CA415136005 | L1CAM | c.530T>C (p.Leu177Ser) c.515T>C (p.Leu172Ser) | gnomAD v4 |
X | g.153870954A>T | CA415136006 | L1CAM | c.530T>A (p.Leu177Ter) c.515T>A (p.Leu172Ter) | |
X | g.153870955A>C | CA415136007 | L1CAM | c.529T>G (p.Leu177Val) c.514T>G (p.Leu172Val) | |
X | g.153870955A>G | CA519344307 | L1CAM | c.529T>C (p.Leu177=) c.514T>C (p.Leu172=) | |
X | g.153870955A>T | CA415136010 | L1CAM | c.529T>A (p.Leu177Met) c.514T>A (p.Leu172Met) | |
X | g.153870956G>A | CA519344308 | L1CAM | c.528C>T (p.Ile176=) c.513C>T (p.Ile171=) | |
X | g.153870956G>C | CA415136013 | L1CAM | c.528C>G (p.Ile176Met) c.513C>G (p.Ile171Met) | |
X | g.153870956G>T | CA519344309 | L1CAM | c.528C>A (p.Ile176=) c.513C>A (p.Ile171=) | |
X | g.153870957A>C | CA415136017 | L1CAM | c.527T>G (p.Ile176Ser) c.512T>G (p.Ile171Ser) | |
X | g.153870957A>G | CA415136020 | L1CAM | c.527T>C (p.Ile176Thr) c.512T>C (p.Ile171Thr) | |
X | g.153870957A>T | CA415136023 | L1CAM | c.527T>A (p.Ile176Asn) c.512T>A (p.Ile171Asn) | |
X | g.153870958T>A | CA415136030 | L1CAM | c.526A>T (p.Ile176Phe) c.511A>T (p.Ile171Phe) | |
X | g.153870958T>C | CA415136033 | L1CAM | c.526A>G (p.Ile176Val) c.511A>G (p.Ile171Val) | |
X | g.153870958T>G | CA415136025 | L1CAM | c.526A>C (p.Ile176Leu) c.511A>C (p.Ile171Leu) | |
X | g.153870959C>A | CA415136055 | L1CAM | c.525G>T (p.Lys175Asn) c.510G>T (p.Lys170Asn) | |
X | g.153870959C>G | CA415136052 | L1CAM | c.525G>C (p.Lys175Asn) c.510G>C (p.Lys170Asn) | gnomAD v4 |
X | g.153870959C>T | CA519344310 | L1CAM | c.525G>A (p.Lys175=) c.510G>A (p.Lys170=) | |
X | g.153870960T>A | CA415136060 | L1CAM | c.524A>T (p.Lys175Met) c.509A>T (p.Lys170Met) | |
X | g.153870960T>C | CA415136059 | L1CAM | c.524A>G (p.Lys175Arg) c.509A>G (p.Lys170Arg) | |
X | g.153870960T>G | CA415136061 | L1CAM | c.524A>C (p.Lys175Thr) c.509A>C (p.Lys170Thr) | |
X | g.153870961C>A | CA415136062 | L1CAM | c.524-1G>T (n.524-1G>T) c.509-1G>T (n.509-1G>T) | |
X | g.153870961C>G | CA415136063 | L1CAM | c.524-1G>C (n.524-1G>C) c.509-1G>C (n.509-1G>C) | |
X | g.153870961C>T | CA415136065 | L1CAM | c.524-1G>A (n.524-1G>A) c.509-1G>A (n.509-1G>A) | |
X | g.153870962T>A | CA415136067 | L1CAM | c.524-2A>T (n.524-2A>T) c.509-2A>T (n.509-2A>T) | |
X | g.153870962T>C | CA415136068 | L1CAM | c.524-2A>G (n.524-2A>G) c.509-2A>G (n.509-2A>G) | ClinVar dbSNP |
X | g.153870962T>G | CA415136072 | L1CAM | c.524-2A>C (n.524-2A>C) c.509-2A>C (n.509-2A>C) | |
X | g.153870962T= | CA2466507330 | L1CAM | c.524-2A= (n.524-2A=) c.509-2A= (n.509-2A=) | |
X | g.153870965del | CA2695068774 | L1CAM | c.524-5del (n.524-5del) c.509-5del (n.509-5del) | gnomAD v4 |
X | g.153870966G>A | CA2739273902 | L1CAM | c.524-6C>T (n.524-6C>T) c.509-6C>T (n.509-6C>T) | ClinVar |