Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120449059_120449113dup | CA891844532 | LAMP2 | c.415_469dup (p.Ser157Ter) | ClinVar dbSNP |
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) | |
X | g.120449093T>A | CA414402280 | LAMP2 | c.433A>T (p.Ile145Phe) | |
X | g.120449093T>C | CA414402281 | LAMP2 | c.433A>G (p.Ile145Val) | |
X | g.120449093T>G | CA414402282 | LAMP2 | c.433A>C (p.Ile145Leu) | |
X | g.120449094T>A | CA414402284 | LAMP2 | c.432A>T (p.Arg144Ser) | |
X | g.120449094T>C | CA518401977 | LAMP2 | c.432A>G (p.Arg144=) | |
X | g.120449094T>G | CA414402285 | LAMP2 | c.432A>C (p.Arg144Ser) | |
X | g.120449095C>A | CA10505303 | LAMP2 | c.431G>T (p.Arg144Ile) | dbSNP ExAC COSMIC COSMIC COSMIC |
X | g.120449095C= | CA2454873144 | LAMP2 | c.431G= (p.Arg144=) | |
X | g.120449095C>G | CA414402287 | LAMP2 | c.431G>C (p.Arg144Thr) | |
X | g.120449095C>T | CA414402288 | LAMP2 | c.431G>A (p.Arg144Lys) | |
X | g.120449096T>A | CA414402292 | LAMP2 | c.430A>T (p.Arg144Ter) | |
X | g.120449096T>C | CA414402290 | LAMP2 | c.430A>G (p.Arg144Gly) | |
X | g.120449096T>G | CA518401978 | LAMP2 | c.430A>C (p.Arg144=) | |
X | g.120449097G>A | CA518401979 | LAMP2 | c.429C>T (p.Ile143=) | ClinVar dbSNP gnomAD v4 |
X | g.120449097G>C | CA414402293 | LAMP2 | c.429C>G (p.Ile143Met) | |
X | g.120449097G= | CA2454873145 | LAMP2 | c.429C= (p.Ile143=) | |
X | g.120449097G>T | CA518401980 | LAMP2 | c.429C>A (p.Ile143=) | |
X | g.120449098A>C | CA414402297 | LAMP2 | c.428T>G (p.Ile143Ser) | |
X | g.120449098A>G | CA414402295 | LAMP2 | c.428T>C (p.Ile143Thr) | |
X | g.120449098A>T | CA414402296 | LAMP2 | c.428T>A (p.Ile143Asn) | |
X | g.120449099T>A | CA414402298 | LAMP2 | c.427A>T (p.Ile143Phe) | |
X | g.120449099T>C | CA414402299 | LAMP2 | c.427A>G (p.Ile143Val) | |
X | g.120449099T>G | CA414402301 | LAMP2 | c.427A>C (p.Ile143Leu) | |
X | g.120449100G>A | CA518401981 | LAMP2 | c.426C>T (p.Ala142=) | ClinVar dbSNP |
X | g.120449100G>C | CA518401982 | LAMP2 | c.426C>G (p.Ala142=) | |
X | g.120449100G>T | CA518401983 | LAMP2 | c.426C>A (p.Ala142=) | gnomAD v4 |