UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120448993del | CA333708 | LAMP2 | c.536del (p.Asn179MetfsTer4) c.79del | dbSNP |
| X | g.120448992T>A | CA414401904 | LAMP2 | c.534A>T (p.Gln178His) c.77A>T | |
| X | g.120448992T>C | CA518401919 | LAMP2 | c.534A>G (p.Gln178=) c.77A>G | |
| X | g.120448992T>G | CA414401906 | LAMP2 | c.534A>C (p.Gln178His) c.77A>C | |
| X | g.120448993T>A | CA414401907 | LAMP2 | c.533A>T (p.Gln178Leu) c.76A>T | |
| X | g.120448993T>C | CA10505294 | LAMP2 | c.533A>G (p.Gln178Arg) c.76A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448993T>G | CA10505295 | LAMP2 | c.533A>C (p.Gln178Pro) c.76A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448993T= | CA2454873114 | LAMP2 | c.533A= (p.Gln178=) c.76A= | |
| X | g.120448994G>A | CA414401911 | LAMP2 | c.532C>T (p.Gln178Ter) c.75C>T | |
| X | g.120448994G>C | CA414401912 | LAMP2 | c.532C>G (p.Gln178Glu) c.75C>G | |
| X | g.120448994G>T | CA414401914 | LAMP2 | c.532C>A (p.Gln178Lys) c.75C>A | gnomAD v4 |
| X | g.120448995G>A | CA518401921 | LAMP2 | c.531C>T (p.Val177=) c.74C>T | |
| X | g.120448995G>C | CA518401922 | LAMP2 | c.531C>G (p.Val177=) c.74C>G | |
| X | g.120448995G>T | CA518401923 | LAMP2 | c.531C>A (p.Val177=) c.74C>A | |
| X | g.120448996A>C | CA414401918 | LAMP2 | c.530T>G (p.Val177Gly) c.73T>G | |
| X | g.120448996A>G | CA414401915 | LAMP2 | c.530T>C (p.Val177Ala) c.73T>C | |
| X | g.120448996A>T | CA414401917 | LAMP2 | c.530T>A (p.Val177Asp) c.73T>A | |
| X | g.120448997del | CA2579692197 | LAMP2 | c.529del (p.Val177SerfsTer6) c.72del | |
| X | g.120448997C>A | CA414401920 | LAMP2 | c.529G>T (p.Val177Phe) c.72G>T | |
| X | g.120448997C>G | CA414401921 | LAMP2 | c.529G>C (p.Val177Leu) c.72G>C | |
| X | g.120448997C>T | CA414401923 | LAMP2 | c.529G>A (p.Val177Ile) c.72G>A | |
| X | g.120448998A= | CA2454873115 | LAMP2 | c.528T= (p.Phe176=) c.71T= | |
| X | g.120448998A>C | CA414401925 | LAMP2 | c.528T>G (p.Phe176Leu) c.71T>G | |
| X | g.120448998A>G | CA518401924 | LAMP2 | c.528T>C (p.Phe176=) c.71T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448998A>T | CA414401926 | LAMP2 | c.528T>A (p.Phe176Leu) c.71T>A | |
| X | g.120448999A>C | CA414401928 | LAMP2 | c.527T>G (p.Phe176Cys) c.70T>G | |
| X | g.120448999A>G | CA414401929 | LAMP2 | c.527T>C (p.Phe176Ser) c.70T>C | |
| X | g.120448999A>T | CA414401931 | LAMP2 | c.527T>A (p.Phe176Tyr) c.70T>A | |
| X | g.120449000A>C | CA414401932 | LAMP2 | c.526T>G (p.Phe176Val) c.69T>G | |
| X | g.120449000A>G | CA414401934 | LAMP2 | c.526T>C (p.Phe176Leu) c.69T>C | |
| X | g.120449000A>T | CA414401936 | LAMP2 | c.526T>A (p.Phe176Ile) c.69T>A | |
| X | g.120449001A>C | CA518401925 | LAMP2 | c.525T>G (p.Ala175=) c.68T>G | |
| X | g.120449001A>G | CA518401926 | LAMP2 | c.525T>C (p.Ala175=) c.68T>C | |
| X | g.120449001A>T | CA518401927 | LAMP2 | c.525T>A (p.Ala175=) c.68T>A | gnomAD v4 |
| X | g.120449002G>A | CA414401940 | LAMP2 | c.524C>T (p.Ala175Val) c.67C>T | COSMIC COSMIC COSMIC |
| X | g.120449002G>C | CA414401939 | LAMP2 | c.524C>G (p.Ala175Gly) c.67C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449002G= | CA2454873116 | LAMP2 | c.524C= (p.Ala175=) c.67C= | |
| X | g.120449002G>T | CA414401937 | LAMP2 | c.524C>A (p.Ala175Asp) c.67C>A | |
| X | g.120449003C>A | CA414401942 | LAMP2 | c.523G>T (p.Ala175Ser) c.66G>T | |
| X | g.120449003C>G | CA414401943 | LAMP2 | c.523G>C (p.Ala175Pro) c.66G>C | |
| X | g.120449003C>T | CA414401945 | LAMP2 | c.523G>A (p.Ala175Thr) c.66G>A | |
| X | g.120449004T>A | CA414401946 | LAMP2 | c.522A>T (p.Gln174His) c.65A>T | |
| X | g.120449004T>C | CA518401929 | LAMP2 | c.522A>G (p.Gln174=) c.65A>G | |
| X | g.120449004T>G | CA414401947 | LAMP2 | c.522A>C (p.Gln174His) c.65A>C | |
| X | g.120449005T>A | CA414401953 | LAMP2 | c.521A>T (p.Gln174Leu) c.64A>T | |
| X | g.120449005T>C | CA414401951 | LAMP2 | c.521A>G (p.Gln174Arg) c.64A>G | |
| X | g.120449005T>G | CA414401950 | LAMP2 | c.521A>C (p.Gln174Pro) c.64A>C | |
| X | g.120449006G>A | CA120861 | LAMP2 | c.520C>T (p.Gln174Ter) c.63C>T | ClinVar dbSNP |
| X | g.120449006G>C | CA414401955 | LAMP2 | c.520C>G (p.Gln174Glu) c.63C>G | |
| X | g.120449006G= | CA2454873117 | LAMP2 | c.520C= (p.Gln174=) c.63C= | |
| X | g.120449006G>T | CA414401957 | LAMP2 | c.520C>A (p.Gln174Lys) c.63C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120449007T>A | CA518401930 | LAMP2 | c.519A>T (p.Val173=) c.62A>T | |
| X | g.120449007T>C | CA16616613 | LAMP2 | c.519A>G (p.Val173=) c.62A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449007T>G | CA518401931 | LAMP2 | c.519A>C (p.Val173=) c.62A>C | |
| X | g.120449007T= | CA2454873118 | LAMP2 | c.519A= (p.Val173=) c.62A= | |
| X | g.120449008A>C | CA414401958 | LAMP2 | c.518T>G (p.Val173Gly) c.61T>G | |
| X | g.120449008A>G | CA414401960 | LAMP2 | c.518T>C (p.Val173Ala) c.61T>C | |
| X | g.120449008A>T | CA414401961 | LAMP2 | c.518T>A (p.Val173Glu) c.61T>A | |
| X | g.120449009C>A | CA414401962 | LAMP2 | c.517G>T (p.Val173Leu) c.60G>T | |
| X | g.120449009C= | CA2454873119 | LAMP2 | c.517G= (p.Val173=) c.60G= | |
| X | g.120449009C>G | CA414401964 | LAMP2 | c.517G>C (p.Val173Leu) c.60G>C | |
| X | g.120449009C>T | CA134133 | LAMP2 | c.517G>A (p.Val173Ile) c.60G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449010A>C | CA518401932 | LAMP2 | c.516T>G (p.Leu172=) c.59T>G | |
| X | g.120449010A>G | CA518401934 | LAMP2 | c.516T>C (p.Leu172=) c.59T>C | |
| X | g.120449010A>T | CA518401933 | LAMP2 | c.516T>A (p.Leu172=) c.59T>A | |
| X | g.120449011A= | CA2454873120 | LAMP2 | c.515T= (p.Leu172=) c.58T= | |
| X | g.120449011A>C | CA414401965 | LAMP2 | c.515T>G (p.Leu172Arg) c.58T>G | gnomAD v4 |
| X | g.120449011A>G | CA10505296 | LAMP2 | c.515T>C (p.Leu172Pro) c.58T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449011A>T | CA414401967 | LAMP2 | c.515T>A (p.Leu172His) c.58T>A | |
| X | g.120449012G>A | CA414401974 | LAMP2 | c.514C>T (p.Leu172Phe) c.57C>T | |
| X | g.120449012G>C | CA414401975 | LAMP2 | c.514C>G (p.Leu172Val) c.57C>G | COSMIC COSMIC COSMIC |
| X | g.120449012G>T | CA414401978 | LAMP2 | c.514C>A (p.Leu172Ile) c.57C>A | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120449013A>C | CA518401935 | LAMP2 | c.513T>G (p.Val171=) c.56T>G | |
| X | g.120449013A>G | CA518401936 | LAMP2 | c.513T>C (p.Val171=) c.56T>C | |
| X | g.120449013A>T | CA518401937 | LAMP2 | c.513T>A (p.Val171=) c.56T>A | |
| X | g.120449014A>C | CA414401979 | LAMP2 | c.512T>G (p.Val171Gly) c.55T>G | |
| X | g.120449014A>G | CA414401981 | LAMP2 | c.512T>C (p.Val171Ala) c.55T>C | |
| X | g.120449014A>T | CA414401983 | LAMP2 | c.512T>A (p.Val171Asp) c.55T>A | |
| X | g.120449015C>A | CA414401985 | LAMP2 | c.511G>T (p.Val171Phe) c.54G>T | |
| X | g.120449015C>G | CA414401986 | LAMP2 | c.511G>C (p.Val171Leu) c.54G>C | |
| X | g.120449015C>T | CA414401987 | LAMP2 | c.511G>A (p.Val171Ile) c.54G>A | |
| X | g.120449016A>C | CA414401989 | LAMP2 | c.510T>G (p.Asp170Glu) c.53T>G | |
| X | g.120449016A>G | CA518401938 | LAMP2 | c.510T>C (p.Asp170=) c.53T>C | |
| X | g.120449016A>T | CA414401988 | LAMP2 | c.510T>A (p.Asp170Glu) c.53T>A | |
| X | g.120449017T>A | CA414401991 | LAMP2 | c.509A>T (p.Asp170Val) c.52A>T | |
| X | g.120449017T>C | CA414401994 | LAMP2 | c.509A>G (p.Asp170Gly) c.52A>G | |
| X | g.120449017T>G | CA414401992 | LAMP2 | c.509A>C (p.Asp170Ala) c.52A>C | |
| X | g.120449018C>A | CA414401995 | LAMP2 | c.508G>T (p.Asp170Tyr) c.51G>T | |
| X | g.120449018C>G | CA414401998 | LAMP2 | c.508G>C (p.Asp170His) c.51G>C | |
| X | g.120449018C>T | CA414401996 | LAMP2 | c.508G>A (p.Asp170Asn) c.51G>A | |
| X | g.120449019C>A | CA414401999 | LAMP2 | c.507G>T (p.Trp169Cys) c.50G>T | |
| X | g.120449019C= | CA2454873121 | LAMP2 | c.507G= (p.Trp169=) c.50G= | |
| X | g.120449019C>G | CA414402000 | LAMP2 | c.507G>C (p.Trp169Cys) c.50G>C | |
| X | g.120449019C>T | CA414402001 | LAMP2 | c.507G>A (p.Trp169Ter) c.50G>A | dbSNP |
| X | g.120449020C>A | CA414402002 | LAMP2 | c.506G>T (p.Trp169Leu) c.49G>T | |
| X | g.120449020C>G | CA414402004 | LAMP2 | c.506G>C (p.Trp169Ser) c.49G>C | |
| X | g.120449020C>T | CA414402006 | LAMP2 | c.506G>A (p.Trp169Ter) c.49G>A | |
| X | g.120449021A>C | CA414402007 | LAMP2 | c.505T>G (p.Trp169Gly) c.48T>G | |
| X | g.120449021A>G | CA414402009 | LAMP2 | c.505T>C (p.Trp169Arg) c.48T>C | |
| X | g.120449021A>T | CA414402010 | LAMP2 | c.505T>A (p.Trp169Arg) c.48T>A | |
| X | g.120449022G>A | CA10505297 | LAMP2 | c.504C>T (p.Tyr168=) c.47C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449022G>C | CA414402013 | LAMP2 | c.504C>G (p.Tyr168Ter) c.47C>G | |
| X | g.120449022G= | CA2454873122 | LAMP2 | c.504C= (p.Tyr168=) c.47C= | |
| X | g.120449022G>T | CA414402014 | LAMP2 | c.504C>A (p.Tyr168Ter) c.47C>A | |
| X | g.120449023T>A | CA414402020 | LAMP2 | c.503A>T (p.Tyr168Phe) c.46A>T | |
| X | g.120449023T>C | CA414402017 | LAMP2 | c.503A>G (p.Tyr168Cys) c.46A>G | |
| X | g.120449023T>G | CA414402018 | LAMP2 | c.503A>C (p.Tyr168Ser) c.46A>C | |
| X | g.120449024A>C | CA414402021 | LAMP2 | c.502T>G (p.Tyr168Asp) c.45T>G | |
| X | g.120449024A>G | CA414402022 | LAMP2 | c.502T>C (p.Tyr168His) c.45T>C | |
| X | g.120449024A>T | CA414402024 | LAMP2 | c.502T>A (p.Tyr168Asn) c.45T>A | |
| X | g.120449025G>A | CA518401939 | LAMP2 | c.501C>T (p.His167=) c.44C>T | |
| X | g.120449025G>C | CA414402026 | LAMP2 | c.501C>G (p.His167Gln) c.44C>G | gnomAD v4 |
| X | g.120449025G>T | CA414402027 | LAMP2 | c.501C>A (p.His167Gln) c.44C>A | |
| X | g.120449026T>A | CA414402028 | LAMP2 | c.500A>T (p.His167Leu) c.43A>T | |
| X | g.120449026T>C | CA414402029 | LAMP2 | c.500A>G (p.His167Arg) c.43A>G | |
| X | g.120449026T>G | CA414402030 | LAMP2 | c.500A>C (p.His167Pro) c.43A>C | |
| X | g.120449027G>A | CA414402032 | LAMP2 | c.499C>T (p.His167Tyr) c.42C>T | |
| X | g.120449027G>C | CA414402034 | LAMP2 | c.499C>G (p.His167Asp) c.42C>G | |
| X | g.120449027G>T | CA414402035 | LAMP2 | c.499C>A (p.His167Asn) c.42C>A | |
| X | g.120449028T>A | CA414402038 | LAMP2 | c.498A>T (p.Gln166His) c.41A>T | |
| X | g.120449028T>C | CA518401940 | LAMP2 | c.498A>G (p.Gln166=) c.41A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449028T>G | CA414402037 | LAMP2 | c.498A>C (p.Gln166His) c.41A>C | |
| X | g.120449028T= | CA2454873123 | LAMP2 | c.498A= (p.Gln166=) c.41A= | |
| X | g.120449029T>A | CA414402039 | LAMP2 | c.497A>T (p.Gln166Leu) c.40A>T | |
| X | g.120449029T>C | CA414402044 | LAMP2 | c.497A>G (p.Gln166Arg) c.40A>G | |
| X | g.120449029T>G | CA414402045 | LAMP2 | c.497A>C (p.Gln166Pro) c.40A>C | |
| X | g.120449030G>A | CA414402046 | LAMP2 | c.496C>T (p.Gln166Ter) c.39C>T | |
| X | g.120449030G>C | CA414402048 | LAMP2 | c.496C>G (p.Gln166Glu) c.39C>G | |
| X | g.120449030G>T | CA414402049 | LAMP2 | c.496C>A (p.Gln166Lys) c.39C>A | |
| X | g.120449031G>A | CA518401943 | LAMP2 | c.495C>T (p.Val165=) c.38C>T | |
| X | g.120449031G>C | CA518401942 | LAMP2 | c.495C>G (p.Val165=) c.38C>G | |
| X | g.120449031G>T | CA518401941 | LAMP2 | c.495C>A (p.Val165=) c.38C>A | |
| X | g.120449032A>C | CA414402051 | LAMP2 | c.494T>G (p.Val165Gly) c.37T>G | |
| X | g.120449032A>G | CA414402053 | LAMP2 | c.494T>C (p.Val165Ala) c.37T>C | |
| X | g.120449032A>T | CA414402054 | LAMP2 | c.494T>A (p.Val165Asp) c.37T>A | |
| X | g.120449033C>A | CA414402055 | LAMP2 | c.493G>T (p.Val165Phe) c.36G>T | |
| X | g.120449033C>G | CA414402057 | LAMP2 | c.493G>C (p.Val165Leu) c.36G>C | |
| X | g.120449033C>T | CA414402058 | LAMP2 | c.493G>A (p.Val165Ile) c.36G>A | gnomAD v4 |
| X | g.120449034A>C | CA518401944 | LAMP2 | c.492T>G (p.Val164=) c.35T>G | |
| X | g.120449034A>G | CA518401945 | LAMP2 | c.492T>C (p.Val164=) c.35T>C | |
| X | g.120449034A>T | CA518401946 | LAMP2 | c.492T>A (p.Val164=) c.35T>A | |
| X | g.120449035A>C | CA414402062 | LAMP2 | c.491T>G (p.Val164Gly) c.34T>G | |
| X | g.120449035A>G | CA414402065 | LAMP2 | c.491T>C (p.Val164Ala) c.34T>C | |
| X | g.120449035A>T | CA414402060 | LAMP2 | c.491T>A (p.Val164Asp) c.34T>A | |
| X | g.120449036C>A | CA414402066 | LAMP2 | c.490G>T (p.Val164Phe) c.33G>T | |
| X | g.120449036C= | CA2454873124 | LAMP2 | c.490G= (p.Val164=) c.33G= | |
| X | g.120449036C>G | CA414402067 | LAMP2 | c.490G>C (p.Val164Leu) c.33G>C | |
| X | g.120449036C>T | CA414402068 | LAMP2 | c.490G>A (p.Val164Ile) c.33G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449037A>C | CA414402069 | LAMP2 | c.489T>G (p.Asp163Glu) c.32T>G | |
| X | g.120449037A>G | CA518401947 | LAMP2 | c.489T>C (p.Asp163=) c.32T>C | gnomAD v4 |
| X | g.120449037A>T | CA414402071 | LAMP2 | c.489T>A (p.Asp163Glu) c.32T>A | |
| X | g.120449038T>A | CA414402075 | LAMP2 | c.488A>T (p.Asp163Val) c.31A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449038T>C | CA414402072 | LAMP2 | c.488A>G (p.Asp163Gly) c.31A>G | |
| X | g.120449038T>G | CA414402074 | LAMP2 | c.488A>C (p.Asp163Ala) c.31A>C | |
| X | g.120449038T= | CA2454873125 | LAMP2 | c.488A= (p.Asp163=) c.31A= | |
| X | g.120449038_120449039delinsTC | CA2454873126 | LAMP2 | c.487_488delinsGA (p.Asp163=) c.30_31delinsGA | |
| X | g.120449039del | CA2454873127 | LAMP2 | c.487del (p.Asp163MetfsTer20) c.30del | ClinVar dbSNP |
| X | g.120449039C>A | CA414402077 | LAMP2 | c.487G>T (p.Asp163Tyr) c.30G>T | |
| X | g.120449039C>G | CA414402078 | LAMP2 | c.487G>C (p.Asp163His) c.30G>C | |
| X | g.120449039C>T | CA414402080 | LAMP2 | c.487G>A (p.Asp163Asn) c.30G>A | |
| X | g.120449040A>C | CA414402081 | LAMP2 | c.486T>G (p.Asn162Lys) c.29T>G | |
| X | g.120449040A>G | CA518401948 | LAMP2 | c.486T>C (p.Asn162=) c.29T>C | |
| X | g.120449040A>T | CA414402083 | LAMP2 | c.486T>A (p.Asn162Lys) c.29T>A | |
| X | g.120449041T>A | CA414402088 | LAMP2 | c.485A>T (p.Asn162Ile) c.28A>T | dbSNP |
| X | g.120449041T>C | CA414402087 | LAMP2 | c.485A>G (p.Asn162Ser) c.28A>G | |
| X | g.120449041T>G | CA414402085 | LAMP2 | c.485A>C (p.Asn162Thr) c.28A>C | |
| X | g.120449041T= | CA2454873128 | LAMP2 | c.485A= (p.Asn162=) c.28A= | |
| X | g.120449042T>A | CA414402090 | LAMP2 | c.484A>T (p.Asn162Tyr) c.27A>T | |
| X | g.120449042T>C | CA414402093 | LAMP2 | c.484A>G (p.Asn162Asp) c.27A>G | |
| X | g.120449042T>G | CA414402092 | LAMP2 | c.484A>C (p.Asn162His) c.27A>C | |
| X | g.120449043C>A | CA414402098 | LAMP2 | c.483G>T (p.Lys161Asn) c.26G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120449043C= | CA2454873129 | LAMP2 | c.483G= (p.Lys161=) c.26G= | |
| X | g.120449043C>G | CA10505298 | LAMP2 | c.483G>C (p.Lys161Asn) c.26G>C | dbSNP ExAC gnomAD v2 |
| X | g.120449043C>T | CA518401949 | LAMP2 | c.483G>A (p.Lys161=) c.26G>A | |
| X | g.120449044T>A | CA414402100 | LAMP2 | c.482A>T (p.Lys161Met) c.25A>T | |
| X | g.120449044T>C | CA414402101 | LAMP2 | c.482A>G (p.Lys161Arg) c.25A>G | |
| X | g.120449044T>G | CA414402103 | LAMP2 | c.482A>C (p.Lys161Thr) c.25A>C | |
| X | g.120449045T>A | CA414402105 | LAMP2 | c.481A>T (p.Lys161Ter) c.24A>T | |
| X | g.120449045T>C | CA414402106 | LAMP2 | c.481A>G (p.Lys161Glu) c.24A>G | gnomAD v4 |
| X | g.120449045T>G | CA414402107 | LAMP2 | c.481A>C (p.Lys161Gln) c.24A>C | |
| X | g.120449046T>A | CA414402109 | LAMP2 | c.480A>T (p.Glu160Asp) c.23A>T | |
| X | g.120449046T>C | CA518401950 | LAMP2 | c.480A>G (p.Glu160=) c.23A>G | |
| X | g.120449046T>G | CA414402111 | LAMP2 | c.480A>C (p.Glu160Asp) c.23A>C | |
| X | g.120449047T>A | CA414402115 | LAMP2 | c.479A>T (p.Glu160Val) c.22A>T | |
| X | g.120449047T>C | CA414402116 | LAMP2 | c.479A>G (p.Glu160Gly) c.22A>G | gnomAD v4 |
| X | g.120449047T>G | CA414402118 | LAMP2 | c.479A>C (p.Glu160Ala) c.22A>C | |
| X | g.120449048C>A | CA414402120 | LAMP2 | c.478G>T (p.Glu160Ter) c.21G>T | |
| X | g.120449048C>G | CA414402123 | LAMP2 | c.478G>C (p.Glu160Gln) c.21G>C | |
| X | g.120449048C>T | CA414402122 | LAMP2 | c.478G>A (p.Glu160Lys) c.21G>A | gnomAD v4 |
| X | g.120449049C>A | CA414402125 | LAMP2 | c.477G>T (p.Leu159Phe) c.20G>T | |
| X | g.120449049C= | CA2454873130 | LAMP2 | c.477G= (p.Leu159=) c.20G= | |
| X | g.120449049C>G | CA414402126 | LAMP2 | c.477G>C (p.Leu159Phe) c.20G>C | |
| X | g.120449049C>T | CA518401951 | LAMP2 | c.477G>A (p.Leu159=) c.20G>A | dbSNP |
| X | g.120449050A>C | CA414402128 | LAMP2 | c.476T>G (p.Leu159Trp) c.19T>G | |
| X | g.120449050A>G | CA414402129 | LAMP2 | c.476T>C (p.Leu159Ser) c.19T>C | |
| X | g.120449050A>T | CA414402131 | LAMP2 | c.476T>A (p.Leu159Ter) c.19T>A | |
| X | g.120449051A>C | CA414402132 | LAMP2 | c.475T>G (p.Leu159Val) c.18T>G | |
| X | g.120449051A>G | CA518401952 | LAMP2 | c.475T>C (p.Leu159=) c.18T>C | |
| X | g.120449051A>T | CA414402133 | LAMP2 | c.475T>A (p.Leu159Met) c.18T>A | |
| X | g.120449052A>C | CA518401953 | LAMP2 | c.474T>G (p.Thr158=) c.17T>G | |
| X | g.120449052A>G | CA518401955 | LAMP2 | c.474T>C (p.Thr158=) c.17T>C | |
| X | g.120449052A>T | CA518401954 | LAMP2 | c.474T>A (p.Thr158=) c.17T>A | |
| X | g.120449053G>A | CA414402134 | LAMP2 | c.473C>T (p.Thr158Ile) c.16C>T | |
| X | g.120449053G>C | CA414402135 | LAMP2 | c.473C>G (p.Thr158Ser) c.16C>G | |
| X | g.120449053G>T | CA414402137 | LAMP2 | c.473C>A (p.Thr158Asn) c.16C>A | gnomAD v4 |
| X | g.120449054T>A | CA414402143 | LAMP2 | c.472A>T (p.Thr158Ser) c.15A>T | |
| X | g.120449054T>C | CA134126 | LAMP2 | c.472A>G (p.Thr158Ala) c.15A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449054T>G | CA414402139 | LAMP2 | c.472A>C (p.Thr158Pro) c.15A>C | |
| X | g.120449054T= | CA2454873131 | LAMP2 | c.472A= (p.Thr158=) c.15A= | |
| X | g.120449055T>A | CA518401956 | LAMP2 | c.471A>T (p.Ser157=) c.14A>T | |
| X | g.120449055T>C | CA518401957 | LAMP2 | c.471A>G (p.Ser157=) c.14A>G | |
| X | g.120449055T>G | CA518401958 | LAMP2 | c.471A>C (p.Ser157=) c.14A>C | |
| X | g.120449056G>A | CA414402145 | LAMP2 | c.470C>T (p.Ser157Leu) c.13C>T | |
| X | g.120449056G>C | CA414402146 | LAMP2 | c.470C>G (p.Ser157Ter) c.13C>G | dbSNP |
| X | g.120449056G= | CA2454873132 | LAMP2 | c.470C= (p.Ser157=) c.13C= | |
| X | g.120449056G>T | CA414402147 | LAMP2 | c.470C>A (p.Ser157Ter) c.13C>A | gnomAD v4 |
| X | g.120449057A>C | CA414402149 | LAMP2 | c.469T>G (p.Ser157Ala) c.12T>G | |
| X | g.120449057A>G | CA414402150 | LAMP2 | c.469T>C (p.Ser157Pro) c.12T>C | |
| X | g.120449057A>T | CA414402152 | LAMP2 | c.469T>A (p.Ser157Thr) c.12T>A | |
| X | g.120449059_120449113dup | CA891844532 | LAMP2 | c.415_469dup (p.Ser157Ter) | ClinVar dbSNP |
| X | g.120449058T>A | CA414402153 | LAMP2 | c.468A>T (p.Leu156Phe) c.11A>T | |
| X | g.120449058T>C | CA518401959 | LAMP2 | c.468A>G (p.Leu156=) c.11A>G | |
| X | g.120449058T>G | CA414402155 | LAMP2 | c.468A>C (p.Leu156Phe) c.11A>C | |
| X | g.120449059A= | CA2454873133 | LAMP2 | c.467T= (p.Leu156=) c.10T= | |
| X | g.120449059A>C | CA414402156 | LAMP2 | c.467T>G (p.Leu156Ter) c.10T>G | ClinVar dbSNP |
| X | g.120449059A>G | CA414402157 | LAMP2 | c.467T>C (p.Leu156Ser) c.10T>C | ClinVar dbSNP gnomAD v4 |
| X | g.120449059A>T | CA414402158 | LAMP2 | c.467T>A (p.Leu156Ter) c.10T>A | |
| X | g.120449060A>C | CA414402160 | LAMP2 | c.466T>G (p.Leu156Val) c.9T>G | |
| X | g.120449060A>G | CA518401960 | LAMP2 | c.466T>C (p.Leu156=) c.9T>C | |
| X | g.120449060A>T | CA414402161 | LAMP2 | c.466T>A (p.Leu156Ile) c.9T>A | |
| X | g.120449061A>C | CA414402164 | LAMP2 | c.465T>G (p.Ser155Arg) c.8T>G | COSMIC COSMIC COSMIC |
| X | g.120449061A>G | CA518401961 | LAMP2 | c.465T>C (p.Ser155=) c.8T>C | ClinVar gnomAD v4 |
| X | g.120449061A>T | CA414402163 | LAMP2 | c.465T>A (p.Ser155Arg) c.8T>A | |
| X | g.120449062C>A | CA414402166 | LAMP2 | c.464G>T (p.Ser155Ile) c.7G>T | |
| X | g.120449062C>G | CA414402168 | LAMP2 | c.464G>C (p.Ser155Thr) c.7G>C | |
| X | g.120449062C>T | CA414402170 | LAMP2 | c.464G>A (p.Ser155Asn) c.7G>A | gnomAD v4 |
| X | g.120449062_120449063delinsCT | CA2454873134 | LAMP2 | c.463_464delinsAG (p.Ser155=) c.6_7delinsAG | |
| X | g.120449063del | CA134125 | LAMP2 | c.463del (p.Ser155ValfsTer28) c.6del | ClinVar dbSNP |
| X | g.120449063T>A | CA414402171 | LAMP2 | c.463A>T (p.Ser155Cys) c.6A>T | |
| X | g.120449063T>C | CA414402173 | LAMP2 | c.463A>G (p.Ser155Gly) c.6A>G | ClinVar |
| X | g.120449063T>G | CA414402175 | LAMP2 | c.463A>C (p.Ser155Arg) c.6A>C | |
| X | g.120449064A= | CA2454873135 | LAMP2 | c.462T= (p.Asn154=) c.5T= | |
| X | g.120449064A>C | CA414402177 | LAMP2 | c.462T>G (p.Asn154Lys) c.5T>G | |
| X | g.120449064A>G | CA10505299 | LAMP2 | c.462T>C (p.Asn154=) c.5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449064A>T | CA414402179 | LAMP2 | c.462T>A (p.Asn154Lys) c.5T>A | |
| X | g.120449065T>A | CA414402181 | LAMP2 | c.461A>T (p.Asn154Ile) c.4A>T | |
| X | g.120449065T>C | CA10505300 | LAMP2 | c.461A>G (p.Asn154Ser) c.4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449065T>G | CA414402183 | LAMP2 | c.461A>C (p.Asn154Thr) c.4A>C | |
| X | g.120449065T= | CA2454873136 | LAMP2 | c.461A= (p.Asn154=) c.4A= | |
| X | g.120449066T>A | CA414402188 | LAMP2 | c.460A>T (p.Asn154Tyr) c.3A>T | |
| X | g.120449066T>C | CA414402187 | LAMP2 | c.460A>G (p.Asn154Asp) c.3A>G | |
| X | g.120449066T>G | CA414402185 | LAMP2 | c.460A>C (p.Asn154His) c.3A>C | |
| X | g.120449067G>A | CA518401962 | LAMP2 | c.459C>T (p.Cys153=) c.2C>T | |
| X | g.120449067G>C | CA414402190 | LAMP2 | c.459C>G (p.Cys153Trp) c.2C>G | ClinVar dbSNP |
| X | g.120449067G>T | CA414402191 | LAMP2 | c.459C>A (p.Cys153Ter) c.2C>A | |
| X | g.120449068C>A | CA414402193 | LAMP2 | c.458G>T (p.Cys153Phe) c.1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120449068C= | CA2454873137 | LAMP2 | c.458G= (p.Cys153=) c.1G= | |
| X | g.120449068C>G | CA414402196 | LAMP2 | c.458G>C (p.Cys153Ser) c.1G>C | |
| X | g.120449068C>T | CA414402194 | LAMP2 | c.458G>A (p.Cys153Tyr) c.1G>A | ClinVar dbSNP |
| X | g.120449069A>C | CA414402198 | LAMP2 | c.457T>G (p.Cys153Gly) | |
| X | g.120449069A>G | CA414402201 | LAMP2 | c.457T>C (p.Cys153Arg) | |
| X | g.120449069A>T | CA414402199 | LAMP2 | c.457T>A (p.Cys153Ser) | |
| X | g.120449070T>A | CA414402202 | LAMP2 | c.456A>T (p.Arg152Ser) | |
| X | g.120449070T>C | CA518401963 | LAMP2 | c.456A>G (p.Arg152=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449070T>G | CA414402203 | LAMP2 | c.456A>C (p.Arg152Ser) | |
| X | g.120449070T= | CA2454873138 | LAMP2 | c.456A= (p.Arg152=) | |
| X | g.120449071C>A | CA414402204 | LAMP2 | c.455G>T (p.Arg152Ile) | |
| X | g.120449071C= | CA2454873139 | LAMP2 | c.455G= (p.Arg152=) | |
| X | g.120449071C>G | CA414402207 | LAMP2 | c.455G>C (p.Arg152Thr) | |
| X | g.120449071C>T | CA414402205 | LAMP2 | c.455G>A (p.Arg152Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449072T>A | CA414402208 | LAMP2 | c.454A>T (p.Arg152Ter) | |
| X | g.120449072T>C | CA414402209 | LAMP2 | c.454A>G (p.Arg152Gly) | |
| X | g.120449072T>G | CA518401964 | LAMP2 | c.454A>C (p.Arg152=) | |
| X | g.120449073A= | CA2454873140 | LAMP2 | c.453T= (p.Phe151=) | |
| X | g.120449073A>C | CA414402210 | LAMP2 | c.453T>G (p.Phe151Leu) | |
| X | g.120449073A>G | CA10505301 | LAMP2 | c.453T>C (p.Phe151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449073A>T | CA414402211 | LAMP2 | c.453T>A (p.Phe151Leu) | |
| X | g.120449077del | CA2573055082 | LAMP2 | c.453del (p.Phe151LeufsTer?) | dbSNP gnomAD v4 |
| X | g.120449074A>C | CA414402213 | LAMP2 | c.452T>G (p.Phe151Cys) | |
| X | g.120449074A>G | CA414402214 | LAMP2 | c.452T>C (p.Phe151Ser) | |
| X | g.120449074A>T | CA414402216 | LAMP2 | c.452T>A (p.Phe151Tyr) | |
| X | g.120449075A>C | CA414402217 | LAMP2 | c.451T>G (p.Phe151Val) | |
| X | g.120449075A>G | CA414402219 | LAMP2 | c.451T>C (p.Phe151Leu) | |
| X | g.120449075A>T | CA414402220 | LAMP2 | c.451T>A (p.Phe151Ile) | |
| X | g.120449076A>C | CA518401965 | LAMP2 | c.450T>G (p.Leu150=) | |
| X | g.120449076A>G | CA518401966 | LAMP2 | c.450T>C (p.Leu150=) | ClinVar dbSNP |
| X | g.120449076A>T | CA518401967 | LAMP2 | c.450T>A (p.Leu150=) | |
| X | g.120449077A= | CA2454873141 | LAMP2 | c.449T= (p.Leu150=) | |
| X | g.120449077A>C | CA414402221 | LAMP2 | c.449T>G (p.Leu150Arg) | |
| X | g.120449077A>G | CA414402223 | LAMP2 | c.449T>C (p.Leu150Pro) | |
| X | g.120449077A>T | CA335013567 | LAMP2 | c.449T>A (p.Leu150His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449078_120449082del | CA2695235722 | LAMP2 | c.445_449del (p.Asp149PhefsTer2) | |
| X | g.120449078G>A | CA414402225 | LAMP2 | c.448C>T (p.Leu150Phe) | |
| X | g.120449078G>C | CA414402228 | LAMP2 | c.448C>G (p.Leu150Val) | |
| X | g.120449078G>T | CA414402227 | LAMP2 | c.448C>A (p.Leu150Ile) | |
| X | g.120449079G>A | CA518401968 | LAMP2 | c.447C>T (p.Asp149=) | |
| X | g.120449079G>C | CA414402229 | LAMP2 | c.447C>G (p.Asp149Glu) | |
| X | g.120449079G>T | CA414402230 | LAMP2 | c.447C>A (p.Asp149Glu) | |
| X | g.120449080T>A | CA414402232 | LAMP2 | c.446A>T (p.Asp149Val) | |
| X | g.120449080T>C | CA414402234 | LAMP2 | c.446A>G (p.Asp149Gly) | |
| X | g.120449080T>G | CA414402235 | LAMP2 | c.446A>C (p.Asp149Ala) | |
| X | g.120449081C>A | CA414402237 | LAMP2 | c.445G>T (p.Asp149Tyr) | |
| X | g.120449081C>G | CA414402238 | LAMP2 | c.445G>C (p.Asp149His) | |
| X | g.120449081C>T | CA414402240 | LAMP2 | c.445G>A (p.Asp149Asn) | |
| X | g.120449082A>C | CA414402241 | LAMP2 | c.444T>G (p.Asn148Lys) | |
| X | g.120449082A>G | CA518401969 | LAMP2 | c.444T>C (p.Asn148=) | gnomAD v4 |
| X | g.120449082A>T | CA414402243 | LAMP2 | c.444T>A (p.Asn148Lys) | |
| X | g.120449083T>A | CA414402245 | LAMP2 | c.443A>T (p.Asn148Ile) | |
| X | g.120449083T>C | CA10505302 | LAMP2 | c.443A>G (p.Asn148Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120449083T>G | CA414402244 | LAMP2 | c.443A>C (p.Asn148Thr) | |
| X | g.120449083T= | CA2454873142 | LAMP2 | c.443A= (p.Asn148=) | |
| X | g.120449084T>A | CA414402247 | LAMP2 | c.442A>T (p.Asn148Tyr) | |
| X | g.120449084T>C | CA414402248 | LAMP2 | c.442A>G (p.Asn148Asp) | |
| X | g.120449084T>G | CA414402250 | LAMP2 | c.442A>C (p.Asn148His) | |
| X | g.120449085C>A | CA414402251 | LAMP2 | c.441G>T (p.Leu147Phe) | |
| X | g.120449085C>G | CA414402254 | LAMP2 | c.441G>C (p.Leu147Phe) | |
| X | g.120449085C>T | CA518401970 | LAMP2 | c.441G>A (p.Leu147=) | |
| X | g.120449086A= | CA2454873143 | LAMP2 | c.440T= (p.Leu147=) | |
| X | g.120449086A>C | CA414402259 | LAMP2 | c.440T>G (p.Leu147Trp) | |
| X | g.120449086A>G | CA414402256 | LAMP2 | c.440T>C (p.Leu147Ser) | |
| X | g.120449086A>T | CA120854 | LAMP2 | c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| X | g.120449089_120449093dup | CA2573159188 | LAMP2 | c.436_440dup (p.Leu147PhefsTer3) | ClinVar dbSNP |
| X | g.120449087A>C | CA414402260 | LAMP2 | c.439T>G (p.Leu147Val) | |
| X | g.120449087A>G | CA518401971 | LAMP2 | c.439T>C (p.Leu147=) | |
| X | g.120449087A>T | CA414402261 | LAMP2 | c.439T>A (p.Leu147Met) | |
| X | g.120449088T>A | CA518401972 | LAMP2 | c.438A>T (p.Pro146=) | |
| X | g.120449088T>C | CA518401973 | LAMP2 | c.438A>G (p.Pro146=) | gnomAD v4 |
| X | g.120449088T>G | CA518401974 | LAMP2 | c.438A>C (p.Pro146=) | |
| X | g.120449089G>A | CA414402263 | LAMP2 | c.437C>T (p.Pro146Leu) | gnomAD v4 |
| X | g.120449089G>C | CA414402264 | LAMP2 | c.437C>G (p.Pro146Arg) | |
| X | g.120449089G>T | CA414402266 | LAMP2 | c.437C>A (p.Pro146Gln) | |
| X | g.120449090G>A | CA414402268 | LAMP2 | c.436C>T (p.Pro146Ser) | |
| X | g.120449090G>C | CA414402271 | LAMP2 | c.436C>G (p.Pro146Ala) | |
| X | g.120449090G>T | CA414402269 | LAMP2 | c.436C>A (p.Pro146Thr) | |
| X | g.120449091A>C | CA414402273 | LAMP2 | c.435T>G (p.Ile145Met) | |
| X | g.120449091A>G | CA518401975 | LAMP2 | c.435T>C (p.Ile145=) | |
| X | g.120449091A>T | CA518401976 | LAMP2 | c.435T>A (p.Ile145=) | |
| X | g.120449092A>C | CA414402274 | LAMP2 | c.434T>G (p.Ile145Ser) | |
| X | g.120449092A>G | CA414402276 | LAMP2 | c.434T>C (p.Ile145Thr) | |
| X | g.120449092A>T | CA414402277 | LAMP2 | c.434T>A (p.Ile145Asn) |