| X | g.120449059_120449113dup | CA891844532 | LAMP2 | c.415_469dup (p.Ser157Ter)
| ClinVar dbSNP |
| X | g.120449089_120449093dup | CA2573159188 | LAMP2 | c.436_440dup (p.Leu147PhefsTer3)
| ClinVar dbSNP |
| 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 |
| X | g.120449165G>A | CA10505309 | LAMP2 | c.398-37C>T (n.398-37C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120449165G= | CA2454873165 | LAMP2 | c.398-37C= (n.398-37C=)
| |
| X | g.120449165G>T | CA2694598325 | LAMP2 | c.398-37C>A (n.398-37C>A)
| gnomAD v4 |
| X | g.120449166G>T | CA2579692201 | LAMP2 | c.398-38C>A (n.398-38C>A)
| gnomAD v4 |
| X | g.120449167T>C | CA2694598326 | LAMP2 | c.398-39A>G (n.398-39A>G)
| gnomAD v4 |
| X | g.120449168_120449169delinsAG | CA2454873166 | LAMP2 | c.398-41_398-40delinsCT (n.398-41_398-40delinsCT)
| |
| X | g.120449170_120449172del | CA2559403670 | LAMP2 | c.398-42_398-40del (n.398-42_398-40del)
| |
| X | g.120449169G>T | CA2694598327 | LAMP2 | c.398-41C>A (n.398-41C>A)
| gnomAD v4 |
| X | g.120449170del | CA10505310 | LAMP2 | c.398-41del (n.398-41del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120449170G>A | CA2694598328 | LAMP2 | c.398-42C>T (n.398-42C>T)
| gnomAD v4 |
| X | g.120449171A>C | CA2694598329 | LAMP2 | c.398-43T>G (n.398-43T>G)
| gnomAD v4 |
| X | g.120449171A>G | CA2694598330 | LAMP2 | c.398-43T>C (n.398-43T>C)
| gnomAD v4 |
| X | g.120449172G>T | CA2694598331 | LAMP2 | c.398-44C>A (n.398-44C>A)
| gnomAD v4 |
| X | g.120449176del | CA2579692202 | LAMP2 | c.398-45del (n.398-45del)
| |
| X | g.120449176A= | CA2454873167 | LAMP2 | c.398-48T= (n.398-48T=)
| |
| X | g.120449176A>G | CA335013570 | LAMP2 | c.398-48T>C (n.398-48T>C)
| dbSNP gnomAD v4 |
| X | g.120449177G>C | CA2694598332 | LAMP2 | c.398-49C>G (n.398-49C>G)
| gnomAD v4 |
| X | g.120449177G>T | CA2694598333 | LAMP2 | c.398-49C>A (n.398-49C>A)
| gnomAD v4 |
| X | g.120449178T>C | CA1136815771 | LAMP2 | c.398-50A>G (n.398-50A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120449178T= | CA2454873168 | LAMP2 | c.398-50A= (n.398-50A=)
| |
| X | g.120449179G>T | CA2694598334 | LAMP2 | c.398-51C>A (n.398-51C>A)
| gnomAD v4 |
| X | g.120449180A= | CA2454873169 | LAMP2 | c.398-52T= (n.398-52T=)
| |
| X | g.120449180A>G | CA644131341 | LAMP2 | c.398-52T>C (n.398-52T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120449188_120449193del | CA2694598335 | LAMP2 | c.398-59_398-54del (n.398-59_398-54del)
| gnomAD v4 |
| X | g.120449183A= | CA2454873170 | LAMP2 | c.398-55T= (n.398-55T=)
| |
| X | g.120449183A>G | CA2454873171 | LAMP2 | c.398-55T>C (n.398-55T>C)
| dbSNP |
| X | g.120449184T>C | CA2454873173 | LAMP2 | c.398-56A>G (n.398-56A>G)
| dbSNP |
| X | g.120449184T= | CA2454873172 | LAMP2 | c.398-56A= (n.398-56A=)
| |
| X | g.120449186T>C | CA2694598336 | LAMP2 | c.398-58A>G (n.398-58A>G)
| gnomAD v4 |
| X | g.120449189A>G | CA2694598337 | LAMP2 | c.398-61T>C (n.398-61T>C)
| gnomAD v4 |
