Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120449059_120449113dup | CA891844532 | LAMP2 | c.415_469dup (p.Ser157Ter) | ClinVar dbSNP |
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) | |
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 |
X | g.120449101G>A | CA414402306 | LAMP2 | c.425C>T (p.Ala142Val) | ClinVar |
X | g.120449101G>C | CA414402308 | LAMP2 | c.425C>G (p.Ala142Gly) | |
X | g.120449101G>T | CA414402310 | LAMP2 | c.425C>A (p.Ala142Asp) | gnomAD v4 |
X | g.120449102C>A | CA414402311 | LAMP2 | c.424G>T (p.Ala142Ser) | |
X | g.120449102C= | CA2454873146 | LAMP2 | c.424G= (p.Ala142=) | |
X | g.120449102C>G | CA414402313 | LAMP2 | c.424G>C (p.Ala142Pro) | ClinVar dbSNP |
X | g.120449102C>T | CA414402314 | LAMP2 | c.424G>A (p.Ala142Thr) | |
X | g.120449103C>A | CA414402315 | LAMP2 | c.423G>T (p.Leu141Phe) | |
X | g.120449103C>G | CA414402316 | LAMP2 | c.423G>C (p.Leu141Phe) | |
X | g.120449103C>T | CA518401984 | LAMP2 | c.423G>A (p.Leu141=) | gnomAD v4 |
X | g.120449104A>C | CA414402318 | LAMP2 | c.422T>G (p.Leu141Trp) | |
X | g.120449104A>G | CA414402321 | LAMP2 | c.422T>C (p.Leu141Ser) | |
X | g.120449104A>T | CA414402320 | LAMP2 | c.422T>A (p.Leu141Ter) | |
X | g.120449107del | CA2579692198 | LAMP2 | c.422del (p.Leu141TrpfsTer7) | |
X | g.120449105A>C | CA414402323 | LAMP2 | c.421T>G (p.Leu141Val) | |
X | g.120449105A>G | CA518401985 | LAMP2 | c.421T>C (p.Leu141=) | gnomAD v4 |
X | g.120449105A>T | CA414402324 | LAMP2 | c.421T>A (p.Leu141Met) | |
X | g.120449106A>C | CA518401986 | LAMP2 | c.420T>G (p.Leu140=) | |
X | g.120449106A>G | CA518401988 | LAMP2 | c.420T>C (p.Leu140=) | |
X | g.120449106A>T | CA518401987 | LAMP2 | c.420T>A (p.Leu140=) | |
X | g.120449107A>C | CA414402326 | LAMP2 | c.419T>G (p.Leu140Arg) | |
X | g.120449107A>G | CA414402328 | LAMP2 | c.419T>C (p.Leu140Pro) | |
X | g.120449107A>T | CA414402329 | LAMP2 | c.419T>A (p.Leu140His) | |
X | g.120449108del | CA2695235723 | LAMP2 | c.418del (p.Leu140PhefsTer8) | |
X | g.120449108G>A | CA414402331 | LAMP2 | c.418C>T (p.Leu140Phe) | |
X | g.120449108G>C | CA414402332 | LAMP2 | c.418C>G (p.Leu140Val) | |
X | g.120449108G>T | CA414402334 | LAMP2 | c.418C>A (p.Leu140Ile) | |
X | g.120449109T>A | CA414402335 | LAMP2 | c.417A>T (p.Glu139Asp) | |
X | g.120449109T>C | CA518401989 | LAMP2 | c.417A>G (p.Glu139=) | |
X | g.120449109T>G | CA414402337 | LAMP2 | c.417A>C (p.Glu139Asp) | |
X | g.120449110T>A | CA414402339 | LAMP2 | c.416A>T (p.Glu139Val) | ClinVar dbSNP |
X | g.120449110T>C | CA414402341 | LAMP2 | c.416A>G (p.Glu139Gly) | |
X | g.120449110T>G | CA414402338 | LAMP2 | c.416A>C (p.Glu139Ala) | gnomAD v4 |
X | g.120449110T= | CA2454873147 | LAMP2 | c.416A= (p.Glu139=) | |
X | g.120449111C>A | CA414402343 | LAMP2 | c.415G>T (p.Glu139Ter) | |
X | g.120449111C= | CA2454873148 | LAMP2 | c.415G= (p.Glu139=) | |
X | g.120449111C>G | CA414402345 | LAMP2 | c.415G>C (p.Glu139Gln) | |
X | g.120449111C>T | CA10505304 | LAMP2 | c.415G>A (p.Glu139Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120449112A>C | CA414402347 | LAMP2 | c.414T>G (p.Asp138Glu) | |
X | g.120449112A>G | CA518401990 | LAMP2 | c.414T>C (p.Asp138=) | |
X | g.120449112A>T | CA414402348 | LAMP2 | c.414T>A (p.Asp138Glu) | |
X | g.120449113T>A | CA414402353 | LAMP2 | c.413A>T (p.Asp138Val) | |
X | g.120449113T>C | CA414402352 | LAMP2 | c.413A>G (p.Asp138Gly) | ClinVar gnomAD v4 |
X | g.120449113T>G | CA414402350 | LAMP2 | c.413A>C (p.Asp138Ala) | |
X | g.120449114C>A | CA414402355 | LAMP2 | c.412G>T (p.Asp138Tyr) | |
X | g.120449114C>G | CA414402356 | LAMP2 | c.412G>C (p.Asp138His) | |
X | g.120449114C>T | CA414402358 | LAMP2 | c.412G>A (p.Asp138Asn) | |
X | g.120449114_120449120delinsCAACAGT | CA2454873149 | LAMP2 | c.406_412delinsACTGTTG (p.Thr136=) | |
X | g.120449115A>C | CA518401993 | LAMP2 | c.411T>G (p.Val137=) | |
X | g.120449115A>G | CA518401992 | LAMP2 | c.411T>C (p.Val137=) | |
X | g.120449115A>T | CA518401991 | LAMP2 | c.411T>A (p.Val137=) | |
X | g.120449117_120449122del | CA644131334 | LAMP2 | c.406_411del (p.Thr136_Val137del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120449116A= | CA2454873150 | LAMP2 | c.410T= (p.Val137=) | |
X | g.120449116A>C | CA414402359 | LAMP2 | c.410T>G (p.Val137Gly) | |
X | g.120449116A>G | CA414402361 | LAMP2 | c.410T>C (p.Val137Ala) | dbSNP gnomAD v4 |
X | g.120449116A>T | CA414402362 | LAMP2 | c.410T>A (p.Val137Asp) | |
X | g.120449117C>A | CA414402364 | LAMP2 | c.409G>T (p.Val137Phe) | |
X | g.120449117C>G | CA414402366 | LAMP2 | c.409G>C (p.Val137Leu) | ClinVar dbSNP gnomAD v4 |
X | g.120449117C>T | CA414402365 | LAMP2 | c.409G>A (p.Val137Ile) | gnomAD v4 |
X | g.120449118A>C | CA518401994 | LAMP2 | c.408T>G (p.Thr136=) | |
X | g.120449118A>G | CA518401995 | LAMP2 | c.408T>C (p.Thr136=) | |
X | g.120449118A>T | CA518401996 | LAMP2 | c.408T>A (p.Thr136=) | |
X | g.120449119G>A | CA414402367 | LAMP2 | c.407C>T (p.Thr136Ile) | |
X | g.120449119G>C | CA414402368 | LAMP2 | c.407C>G (p.Thr136Ser) | |
X | g.120449119G>T | CA414402369 | LAMP2 | c.407C>A (p.Thr136Asn) | gnomAD v4 |
X | g.120449120T>A | CA414402370 | LAMP2 | c.406A>T (p.Thr136Ser) | |
X | g.120449120T>C | CA414402371 | LAMP2 | c.406A>G (p.Thr136Ala) | |
X | g.120449120T>G | CA414402372 | LAMP2 | c.406A>C (p.Thr136Pro) | |
X | g.120449121A= | CA2454873151 | LAMP2 | c.405T= (p.Leu135=) | |
X | g.120449121A>C | CA518401997 | LAMP2 | c.405T>G (p.Leu135=) | |
X | g.120449121A>G | CA10505305 | LAMP2 | c.405T>C (p.Leu135=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120449121A>T | CA518401998 | LAMP2 | c.405T>A (p.Leu135=) | |
X | g.120449122dup | CA2695235724 | LAMP2 | c.405dup (p.Thr136TyrfsTer3) | |
X | g.120449122A>C | CA414402373 | LAMP2 | c.404T>G (p.Leu135Arg) | |
X | g.120449122A>G | CA414402374 | LAMP2 | c.404T>C (p.Leu135Pro) | |
X | g.120449122A>T | CA414402376 | LAMP2 | c.404T>A (p.Leu135His) | |
X | g.120449123G>A | CA414402378 | LAMP2 | c.403C>T (p.Leu135Phe) | gnomAD v4 |
X | g.120449123G>C | CA414402379 | LAMP2 | c.403C>G (p.Leu135Val) | |
X | g.120449123G>T | CA414402381 | LAMP2 | c.403C>A (p.Leu135Ile) | gnomAD v4 |
X | g.120449124A>C | CA414402383 | LAMP2 | c.402T>G (p.Ile134Met) | |
X | g.120449124A>G | CA518401999 | LAMP2 | c.402T>C (p.Ile134=) | |
X | g.120449124A>T | CA518402000 | LAMP2 | c.402T>A (p.Ile134=) | |
X | g.120449125A>C | CA414402385 | LAMP2 | c.401T>G (p.Ile134Ser) | |
X | g.120449125A>G | CA414402384 | LAMP2 | c.401T>C (p.Ile134Thr) | |
X | g.120449125A>T | CA414402387 | LAMP2 | c.401T>A (p.Ile134Asn) | |
X | g.120449126T>A | CA414402388 | LAMP2 | c.400A>T (p.Ile134Phe) | |
X | g.120449126T>C | CA414402391 | LAMP2 | c.400A>G (p.Ile134Val) | gnomAD v4 |
X | g.120449126T>G | CA414402390 | LAMP2 | c.400A>C (p.Ile134Leu) | |
X | g.120449127T>A | CA518402001 | LAMP2 | c.399A>T (p.Gly133=) | |
X | g.120449127T>C | CA518402002 | LAMP2 | c.399A>G (p.Gly133=) | gnomAD v4 |
X | g.120449127T>G | CA518402003 | LAMP2 | c.399A>C (p.Gly133=) | |
X | g.120449128C>A | CA414402393 | LAMP2 | c.398G>T (p.Gly133Val) | |
X | g.120449128C>G | CA414402395 | LAMP2 | c.398G>C (p.Gly133Ala) | |
X | g.120449128C>T | CA414402396 | LAMP2 | c.398G>A (p.Gly133Glu) | ClinVar dbSNP |
X | g.120449129C>A | CA414402398 | LAMP2 | c.398-1G>T (n.398-1G>T) | gnomAD v4 |
X | g.120449129C= | CA2454873152 | LAMP2 | c.398-1G= (n.398-1G=) | |
X | g.120449129C>G | CA414402400 | LAMP2 | c.398-1G>C (n.398-1G>C) | |
X | g.120449129C>T | CA414402402 | LAMP2 | c.398-1G>A (n.398-1G>A) | dbSNP |
X | g.120449130T>A | CA414402403 | LAMP2 | c.398-2A>T (n.398-2A>T) | |
X | g.120449130T>C | CA414402404 | LAMP2 | c.398-2A>G (n.398-2A>G) | gnomAD v4 |
X | g.120449130T>G | CA414402406 | LAMP2 | c.398-2A>C (n.398-2A>C) | |
X | g.120449131A= | CA2454873153 | LAMP2 | c.398-3T= (n.398-3T=) | |
X | g.120449131A>G | CA335013568 | LAMP2 | c.398-3T>C (n.398-3T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120449132T>A | CA2823250108 | LAMP2 | c.398-4A>T (n.398-4A>T) | |
X | g.120449132T>C | CA16608257 | LAMP2 | c.398-4A>G (n.398-4A>G) | ClinVar dbSNP |
X | g.120449132T= | CA2454873154 | LAMP2 | c.398-4A= (n.398-4A=) | |
X | g.120449133A= | CA2454873155 | LAMP2 | c.398-5T= (n.398-5T=) | |
X | g.120449133A>G | CA644131337 | LAMP2 | c.398-5T>C (n.398-5T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.120449136del | CA2579692199 | LAMP2 | c.398-5del (n.398-5del) | |
X | g.120449134A>T | CA2600608935 | LAMP2 | c.398-6T>A (n.398-6T>A) | gnomAD v3 gnomAD v4 |
X | g.120449135A= | CA2454873156 | LAMP2 | c.398-7T= (n.398-7T=) | |
X | g.120449135A>G | CA10577157 | LAMP2 | c.398-7T>C (n.398-7T>C) | ClinVar dbSNP |
X | g.120449140G>A | CA2823250117 | LAMP2 | c.398-12C>T (n.398-12C>T) | |
X | g.120449140G>T | CA2694598305 | LAMP2 | c.398-12C>A (n.398-12C>A) | gnomAD v4 |
X | g.120449141A>G | CA2694598306 | LAMP2 | c.398-13T>C (n.398-13T>C) | gnomAD v4 |
X | g.120449142T>C | CA10505306 | LAMP2 | c.398-14A>G (n.398-14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120449142T= | CA2454873157 | LAMP2 | c.398-14A= (n.398-14A=) | |
X | g.120449143T>C | CA2694598307 | LAMP2 | c.398-15A>G (n.398-15A>G) | gnomAD v4 |
X | g.120449143T>G | CA2694598308 | LAMP2 | c.398-15A>C (n.398-15A>C) | gnomAD v4 |
X | g.120449144A= | CA2454873158 | LAMP2 | c.398-16T= (n.398-16T=) | |
X | g.120449144A>G | CA10505307 | LAMP2 | c.398-16T>C (n.398-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120449145A>G | CA2694598309 | LAMP2 | c.398-17T>C (n.398-17T>C) | gnomAD v4 |
X | g.120449145_120449146insACACACCCAACA | CA2823250124 | LAMP2 | c.398-17_398-16insGTTGGGTGTGTT (n.398-17_398-16insGTTGGGTGTGTT) | |
X | g.120449146C= | CA2454873159 | LAMP2 | c.398-18G= (n.398-18G=) | |
X | g.120449146C>T | CA870734591 | LAMP2 | c.398-18G>A (n.398-18G>A) | dbSNP |
X | g.120449147A= | CA2454873160 | LAMP2 | c.398-19T= (n.398-19T=) | |
X | g.120449147A>C | CA644131339 | LAMP2 | c.398-19T>G (n.398-19T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120449147A>G | CA2454873161 | LAMP2 | c.398-19T>C (n.398-19T>C) | dbSNP |
X | g.120449148dup | CA335013569 | LAMP2 | c.398-19dup (n.398-19dup) | dbSNP gnomAD v4 |
X | g.120449148A= | CA2454873162 | LAMP2 | c.398-20T= (n.398-20T=) | |
X | g.120449148A>G | CA1136815766 | LAMP2 | c.398-20T>C (n.398-20T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120449150G>A | CA2694598310 | LAMP2 | c.398-22C>T (n.398-22C>T) | gnomAD v4 |
X | g.120449150G>T | CA2694598311 | LAMP2 | c.398-22C>A (n.398-22C>A) | gnomAD v4 |
X | g.120449151G>A | CA2694598312 | LAMP2 | c.398-23C>T (n.398-23C>T) | gnomAD v4 |
X | g.120449151G>C | CA2694598313 | LAMP2 | c.398-23C>G (n.398-23C>G) | gnomAD v4 |
X | g.120449151G>T | CA2694598314 | LAMP2 | c.398-23C>A (n.398-23C>A) | gnomAD v4 |
X | g.120449153T>A | CA2694598315 | LAMP2 | c.398-25A>T (n.398-25A>T) | gnomAD v4 |
X | g.120449157del | CA2579692200 | LAMP2 | c.398-27del (n.398-27del) | |
X | g.120449156T>C | CA2694598316 | LAMP2 | c.398-28A>G (n.398-28A>G) | gnomAD v4 |
X | g.120449157T>A | CA2694598317 | LAMP2 | c.398-29A>T (n.398-29A>T) | gnomAD v4 |
X | g.120449157T>C | CA2694598318 | LAMP2 | c.398-29A>G (n.398-29A>G) | gnomAD v4 |
X | g.120449158C= | CA2454873163 | LAMP2 | c.398-30G= (n.398-30G=) | |
X | g.120449158C>T | CA10505308 | LAMP2 | c.398-30G>A (n.398-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120449159C>A | CA2694598319 | LAMP2 | c.398-31G>T (n.398-31G>T) | gnomAD v4 |
X | g.120449159C>G | CA2694598320 | LAMP2 | c.398-31G>C (n.398-31G>C) | dbSNP gnomAD v4 |
X | g.120449161A>G | CA2694598321 | LAMP2 | c.398-33T>C (n.398-33T>C) | gnomAD v4 |
X | g.120449162G>T | CA2694598322 | LAMP2 | c.398-34C>A (n.398-34C>A) | gnomAD v4 |
X | g.120449163A= | CA2454873164 | LAMP2 | c.398-35T= (n.398-35T=) | |
X | g.120449163A>G | CA870734602 | LAMP2 | c.398-35T>C (n.398-35T>C) | dbSNP gnomAD v4 |
X | g.120449164del | CA2694598323 | LAMP2 | c.398-35del (n.398-35del) | gnomAD v4 |
X | g.120449164A>T | CA2694598324 | LAMP2 | c.398-36T>A (n.398-36T>A) | gnomAD v4 |