| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120442625A>C | CA414400320 | LAMP2 | c.902T>G (p.Ile301Ser) c.445T>G | |
| X | g.120442625A>G | CA414400321 | LAMP2 | c.902T>C (p.Ile301Thr) c.445T>C | |
| X | g.120442625A>T | CA414400322 | LAMP2 | c.902T>A (p.Ile301Asn) c.445T>A | |
| X | g.120442626T>A | CA414400323 | LAMP2 | c.901A>T (p.Ile301Phe) c.444A>T | |
| X | g.120442626T>C | CA414400324 | LAMP2 | c.901A>G (p.Ile301Val) c.444A>G | |
| X | g.120442626T>G | CA414400325 | LAMP2 | c.901A>C (p.Ile301Leu) c.444A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442626T= | CA2454871195 | LAMP2 | c.901A= (p.Ile301=) c.444A= | |
| X | g.120442627G>A | CA518400545 | LAMP2 | c.900C>T (p.Asn300=) c.443C>T | |
| X | g.120442627G>C | CA414400326 | LAMP2 | c.900C>G (p.Asn300Lys) c.443C>G | |
| X | g.120442627G>T | CA414400327 | LAMP2 | c.900C>A (p.Asn300Lys) c.443C>A | |
| X | g.120442630_120442653del | CA2695236102 | LAMP2 | c.877_900del (p.Arg293_Asn300del) c.420_443del | |
| X | g.120442628T>A | CA414400328 | LAMP2 | c.899A>T (p.Asn300Ile) c.442A>T | |
| X | g.120442628T>C | CA414400329 | LAMP2 | c.899A>G (p.Asn300Ser) c.442A>G | |
| X | g.120442628T>G | CA414400330 | LAMP2 | c.899A>C (p.Asn300Thr) c.442A>C | |
| X | g.120442629T>A | CA414400333 | LAMP2 | c.898A>T (p.Asn300Tyr) c.441A>T | |
| X | g.120442629T>C | CA414400332 | LAMP2 | c.898A>G (p.Asn300Asp) c.441A>G | |
| X | g.120442629T>G | CA414400331 | LAMP2 | c.898A>C (p.Asn300His) c.441A>C | |
| X | g.120442630C>A | CA518400548 | LAMP2 | c.897G>T (p.Val299=) c.440G>T | |
| X | g.120442630C= | CA2454871196 | LAMP2 | c.897G= (p.Val299=) c.440G= | |
| X | g.120442630C>G | CA518400549 | LAMP2 | c.897G>C (p.Val299=) c.440G>C | |
| X | g.120442630C>T | CA10505233 | LAMP2 | c.897G>A (p.Val299=) c.440G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442631A= | CA2454871197 | LAMP2 | c.896T= (p.Val299=) c.439T= | |
| X | g.120442631A>C | CA414400334 | LAMP2 | c.896T>G (p.Val299Gly) c.439T>G | |
| X | g.120442631A>G | CA10505234 | LAMP2 | c.896T>C (p.Val299Ala) c.439T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442631A>T | CA414400335 | LAMP2 | c.896T>A (p.Val299Glu) c.439T>A | |
| X | g.120442632C>A | CA414400336 | LAMP2 | c.895G>T (p.Val299Leu) c.438G>T | |
| X | g.120442632C>G | CA414400337 | LAMP2 | c.895G>C (p.Val299Leu) c.438G>C | |
| X | g.120442632C>T | CA414400338 | LAMP2 | c.895G>A (p.Val299Met) c.438G>A | |
| X | g.120442633T>A | CA414400339 | LAMP2 | c.894A>T (p.Glu298Asp) c.437A>T | |
| X | g.120442633T>C | CA518400553 | LAMP2 | c.894A>G (p.Glu298=) c.437A>G | gnomAD v4 |
| X | g.120442633T>G | CA414400340 | LAMP2 | c.894A>C (p.Glu298Asp) c.437A>C | |
| X | g.120442634T>A | CA414400341 | LAMP2 | c.893A>T (p.Glu298Val) c.436A>T | |
| X | g.120442634T>C | CA414400342 | LAMP2 | c.893A>G (p.Glu298Gly) c.436A>G | |
| X | g.120442634T>G | CA414400343 | LAMP2 | c.893A>C (p.Glu298Ala) c.436A>C | |
| X | g.120442635C>A | CA414400344 | LAMP2 | c.892G>T (p.Glu298Ter) c.435G>T | |
| X | g.120442635C>G | CA414400345 | LAMP2 | c.892G>C (p.Glu298Gln) c.435G>C | |
| X | g.120442635C>T | CA414400346 | LAMP2 | c.892G>A (p.Glu298Lys) c.435G>A | gnomAD v4 |
| X | g.120442636C>A | CA414400347 | LAMP2 | c.891G>T (p.Lys297Asn) c.434G>T | |
| X | g.120442636C>G | CA414400348 | LAMP2 | c.891G>C (p.Lys297Asn) c.434G>C | |
| X | g.120442636C>T | CA518400556 | LAMP2 | c.891G>A (p.Lys297=) c.434G>A | |
| X | g.120442637T>A | CA414400349 | LAMP2 | c.890A>T (p.Lys297Met) c.433A>T | |
| X | g.120442637T>C | CA414400351 | LAMP2 | c.890A>G (p.Lys297Arg) c.433A>G | |
| X | g.120442637T>G | CA414400350 | LAMP2 | c.890A>C (p.Lys297Thr) c.433A>C | |
| X | g.120442638T>A | CA414400352 | LAMP2 | c.889A>T (p.Lys297Ter) c.432A>T | |
| X | g.120442638T>C | CA414400353 | LAMP2 | c.889A>G (p.Lys297Glu) c.432A>G | |
| X | g.120442638T>G | CA414400354 | LAMP2 | c.889A>C (p.Lys297Gln) c.432A>C | |
| X | g.120442639C>A | CA518400558 | LAMP2 | c.888G>T (p.Leu296=) c.431G>T | |
| X | g.120442639C>G | CA518400560 | LAMP2 | c.888G>C (p.Leu296=) c.431G>C | |
| X | g.120442639C>T | CA518400559 | LAMP2 | c.888G>A (p.Leu296=) c.431G>A | |
| X | g.120442640A= | CA2454871198 | LAMP2 | c.887T= (p.Leu296=) c.430T= | |
| X | g.120442640A>C | CA10587960 | LAMP2 | c.887T>G (p.Leu296Arg) c.430T>G | ClinVar dbSNP |
| X | g.120442640A>G | CA333677 | LAMP2 | c.887T>C (p.Leu296Pro) c.430T>C | ClinVar dbSNP |
| X | g.120442640A>T | CA414400355 | LAMP2 | c.887T>A (p.Leu296Gln) c.430T>A | |
| X | g.120442641G>A | CA518400564 | LAMP2 | c.886C>T (p.Leu296=) c.429C>T | |
| X | g.120442641G>C | CA414400356 | LAMP2 | c.886C>G (p.Leu296Val) c.429C>G | |
| X | g.120442641G>T | CA414400357 | LAMP2 | c.886C>A (p.Leu296Met) c.429C>A | gnomAD v4 |
| X | g.120442642A= | CA2454871199 | LAMP2 | c.885T= (p.Tyr295=) c.428T= | |
| X | g.120442642A>C | CA414400358 | LAMP2 | c.885T>G (p.Tyr295Ter) c.428T>G | |
| X | g.120442642A>G | CA10505235 | LAMP2 | c.885T>C (p.Tyr295=) c.428T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442642A>T | CA414400359 | LAMP2 | c.885T>A (p.Tyr295Ter) c.428T>A | |
| X | g.120442643T>A | CA414400362 | LAMP2 | c.884A>T (p.Tyr295Phe) c.427A>T | |
| X | g.120442643T>C | CA414400361 | LAMP2 | c.884A>G (p.Tyr295Cys) c.427A>G | |
| X | g.120442643T>G | CA414400360 | LAMP2 | c.884A>C (p.Tyr295Ser) c.427A>C | |
| X | g.120442643T= | CA2454871200 | LAMP2 | c.884A= (p.Tyr295=) c.427A= | |
| X | g.120442644A>C | CA414400365 | LAMP2 | c.883T>G (p.Tyr295Asp) c.426T>G | |
| X | g.120442644A>G | CA414400363 | LAMP2 | c.883T>C (p.Tyr295His) c.426T>C | |
| X | g.120442644A>T | CA414400364 | LAMP2 | c.883T>A (p.Tyr295Asn) c.426T>A | |
| X | g.120442647dup | CA870729291 | LAMP2 | c.883dup (p.Tyr295LeufsTer13) c.426dup | ClinVar dbSNP |
| X | g.120442647del | CA2579692129 | LAMP2 | c.883del (p.Tyr295IlefsTer2) c.426del | |
| X | g.120442645A>C | CA414400366 | LAMP2 | c.882T>G (p.Phe294Leu) c.425T>G | |
| X | g.120442645A>G | CA518400567 | LAMP2 | c.882T>C (p.Phe294=) c.425T>C | |
| X | g.120442645A>T | CA414400367 | LAMP2 | c.882T>A (p.Phe294Leu) c.425T>A | |
| X | g.120442646A>C | CA414400368 | LAMP2 | c.881T>G (p.Phe294Cys) c.424T>G | |
| X | g.120442646A>G | CA414400369 | LAMP2 | c.881T>C (p.Phe294Ser) c.424T>C | |
| X | g.120442646A>T | CA414400370 | LAMP2 | c.881T>A (p.Phe294Tyr) c.424T>A | |
| X | g.120442647A>C | CA414400371 | LAMP2 | c.880T>G (p.Phe294Val) c.423T>G | |
| X | g.120442647A>G | CA414400372 | LAMP2 | c.880T>C (p.Phe294Leu) c.423T>C | |
| X | g.120442647A>T | CA414400373 | LAMP2 | c.880T>A (p.Phe294Ile) c.423T>A | |
| X | g.120442648T>A | CA518400569 | LAMP2 | c.879A>T (p.Arg293=) c.422A>T | gnomAD v4 |
| X | g.120442648T>C | CA518400570 | LAMP2 | c.879A>G (p.Arg293=) c.422A>G | dbSNP gnomAD v4 |
| X | g.120442648T>G | CA518400571 | LAMP2 | c.879A>C (p.Arg293=) c.422A>C | |
| X | g.120442648T= | CA2454871201 | LAMP2 | c.879A= (p.Arg293=) c.422A= | |
| X | g.120442649C>A | CA414400374 | LAMP2 | c.878G>T (p.Arg293Leu) c.421G>T | gnomAD v4 |
| X | g.120442649C= | CA2454871202 | LAMP2 | c.878G= (p.Arg293=) c.421G= | |
| X | g.120442649C>G | CA414400375 | LAMP2 | c.878G>C (p.Arg293Pro) c.421G>C | |
| X | g.120442649C>T | CA414400376 | LAMP2 | c.878G>A (p.Arg293Gln) c.421G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120442650G>A | CA176513 | LAMP2 | c.877C>T (p.Arg293Ter) c.420C>T | ClinVar dbSNP |
| X | g.120442650G>C | CA414400377 | LAMP2 | c.877C>G (p.Arg293Gly) c.420C>G | |
| X | g.120442650G= | CA2454871203 | LAMP2 | c.877C= (p.Arg293=) c.420C= | |
| X | g.120442650G>T | CA10505236 | LAMP2 | c.877C>A (p.Arg293=) c.420C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442651G>A | CA518400575 | LAMP2 | c.876C>T (p.Asn292=) c.419C>T | ClinVar gnomAD v4 |
| X | g.120442651G>C | CA414400378 | LAMP2 | c.876C>G (p.Asn292Lys) c.419C>G | |
| X | g.120442651G>T | CA414400379 | LAMP2 | c.876C>A (p.Asn292Lys) c.419C>A | gnomAD v4 |
| X | g.120442652T>A | CA414400380 | LAMP2 | c.875A>T (p.Asn292Ile) c.418A>T | |
| X | g.120442652T>C | CA414400381 | LAMP2 | c.875A>G (p.Asn292Ser) c.418A>G | |
| X | g.120442652T>G | CA414400382 | LAMP2 | c.875A>C (p.Asn292Thr) c.418A>C | |
| X | g.120442653T>A | CA414400383 | LAMP2 | c.874A>T (p.Asn292Tyr) c.417A>T | |
| X | g.120442653T>C | CA414400384 | LAMP2 | c.874A>G (p.Asn292Asp) c.417A>G | |
| X | g.120442653T>G | CA414400385 | LAMP2 | c.874A>C (p.Asn292His) c.417A>C | |
| X | g.120442654T>A | CA414400386 | LAMP2 | c.873A>T (p.Glu291Asp) c.416A>T | |
| X | g.120442654T>C | CA518400579 | LAMP2 | c.873A>G (p.Glu291=) c.416A>G | |
| X | g.120442654T>G | CA414400387 | LAMP2 | c.873A>C (p.Glu291Asp) c.416A>C | |
| X | g.120442655T>A | CA414400388 | LAMP2 | c.872A>T (p.Glu291Val) c.415A>T | |
| X | g.120442655T>C | CA414400389 | LAMP2 | c.872A>G (p.Glu291Gly) c.415A>G | gnomAD v4 |
| X | g.120442655T>G | CA414400390 | LAMP2 | c.872A>C (p.Glu291Ala) c.415A>C | |
| X | g.120442656C>A | CA414400392 | LAMP2 | c.871G>T (p.Glu291Ter) c.414G>T | |
| X | g.120442656C>G | CA414400393 | LAMP2 | c.871G>C (p.Glu291Gln) c.414G>C | |
| X | g.120442656C>T | CA414400391 | LAMP2 | c.871G>A (p.Glu291Lys) c.414G>A | |
| X | g.120442657A>C | CA414400394 | LAMP2 | c.870T>G (p.Asn290Lys) c.413T>G | |
| X | g.120442657A>G | CA518400581 | LAMP2 | c.870T>C (p.Asn290=) c.413T>C | |
| X | g.120442657A>T | CA414400395 | LAMP2 | c.870T>A (p.Asn290Lys) c.413T>A | |
| X | g.120442658T>A | CA414400396 | LAMP2 | c.869A>T (p.Asn290Ile) c.412A>T | |
| X | g.120442658T>C | CA414400397 | LAMP2 | c.869A>G (p.Asn290Ser) c.412A>G | |
| X | g.120442658T>G | CA414400398 | LAMP2 | c.869A>C (p.Asn290Thr) c.412A>C | |
| X | g.120442659T>A | CA414400399 | LAMP2 | c.868A>T (p.Asn290Tyr) c.411A>T | |
| X | g.120442659T>C | CA414400400 | LAMP2 | c.868A>G (p.Asn290Asp) c.411A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442659T>G | CA414400401 | LAMP2 | c.868A>C (p.Asn290His) c.411A>C | |
| X | g.120442659T= | CA2454871204 | LAMP2 | c.868A= (p.Asn290=) c.411A= | |
| X | g.120442660T>A | CA414400402 | LAMP2 | c.867A>T (p.Lys289Asn) c.410A>T | gnomAD v4 |
| X | g.120442660T>C | CA518400585 | LAMP2 | c.867A>G (p.Lys289=) c.410A>G | |
| X | g.120442660T>G | CA414400403 | LAMP2 | c.867A>C (p.Lys289Asn) c.410A>C | |
| X | g.120442661T>A | CA414400404 | LAMP2 | c.866A>T (p.Lys289Ile) c.409A>T | |
| X | g.120442661T>C | CA414400405 | LAMP2 | c.866A>G (p.Lys289Arg) c.409A>G | |
| X | g.120442661T>G | CA414400406 | LAMP2 | c.866A>C (p.Lys289Thr) c.409A>C | |
| X | g.120442662T>A | CA414400409 | LAMP2 | c.865A>T (p.Lys289Ter) c.408A>T | |
| X | g.120442662T>C | CA414400408 | LAMP2 | c.865A>G (p.Lys289Glu) c.408A>G | |
| X | g.120442662T>G | CA414400407 | LAMP2 | c.865A>C (p.Lys289Gln) c.408A>C | |
| X | g.120442663C>A | CA414400410 | LAMP2 | c.865-1G>T (n.865-1G>T) c.408-1G>T | |
| X | g.120442663C= | CA2454871205 | LAMP2 | c.865-1G= (n.865-1G=) c.408-1G= | |
| X | g.120442663C>G | CA134212 | LAMP2 | c.865-1G>C (n.865-1G>C) c.408-1G>C | ClinVar dbSNP |
| X | g.120442663C>T | CA414400411 | LAMP2 | c.865-1G>A (n.865-1G>A) c.408-1G>A | |
| X | g.120442664T>A | CA414400412 | LAMP2 | c.865-2A>T (n.865-2A>T) c.408-2A>T | |
| X | g.120442664T>C | CA414400413 | LAMP2 | c.865-2A>G (n.865-2A>G) c.408-2A>G | dbSNP |
| X | g.120442664T>G | CA414400414 | LAMP2 | c.865-2A>C (n.865-2A>C) c.408-2A>C | |
| X | g.120442664T= | CA2454871206 | LAMP2 | c.865-2A= (n.865-2A=) c.408-2A= | |
| X | g.120442665G>A | CA2823249097 | LAMP2 | c.865-3C>T (n.865-3C>T) c.408-3C>T | |
| X | g.120442665G>C | CA2695236104 | LAMP2 | c.865-3C>G (n.865-3C>G) c.408-3C>G | |
| X | g.120442665G= | CA2454871207 | LAMP2 | c.865-3C= (n.865-3C=) c.408-3C= | |
| X | g.120442665G>T | CA134213 | LAMP2 | c.865-3C>A (n.865-3C>A) c.408-3C>A | ClinVar dbSNP |
| X | g.120442665_120442666delinsGT | CA2454871208 | LAMP2 | c.865-4_865-3delinsAC (n.865-4_865-3delinsAC) c.408-4_408-3delinsAC | |
| X | g.120442668del | CA10505237 | LAMP2 | c.865-4del (n.865-4del) c.408-4del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442668T>C | CA2694597913 | LAMP2 | c.865-6A>G (n.865-6A>G) c.408-6A>G | gnomAD v4 |
| X | g.120442669_120442670delinsGA | CA2454871209 | LAMP2 | c.865-8_865-7delinsTC (n.865-8_865-7delinsTC) c.408-8_408-7delinsTC | |
| X | g.120442670A>G | CA2573159177 | LAMP2 | c.865-8T>C (n.865-8T>C) c.408-8T>C | ClinVar dbSNP |
| X | g.120442674dup | CA10505238 | LAMP2 | c.865-8dup (n.865-8dup) c.408-8dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442674del | CA10505239 | LAMP2 | c.865-8del (n.865-8del) c.408-8del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442671A= | CA2454871210 | LAMP2 | c.865-9T= (n.865-9T=) c.408-9T= | |
| X | g.120442671A>G | CA16608256 | LAMP2 | c.865-9T>C (n.865-9T>C) c.408-9T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120442674A>G | CA2694597914 | LAMP2 | c.865-12T>C (n.865-12T>C) c.408-12T>C | gnomAD v4 |
| X | g.120442675G>A | CA10505240 | LAMP2 | c.865-13C>T (n.865-13C>T) c.408-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442675G>C | CA644130768 | LAMP2 | c.865-13C>G (n.865-13C>G) c.408-13C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120442675G= | CA2454871211 | LAMP2 | c.865-13C= (n.865-13C=) c.408-13C= | |
| X | g.120442675G>T | CA2694597915 | LAMP2 | c.865-13C>A (n.865-13C>A) c.408-13C>A | gnomAD v4 |
| X | g.120442677G>C | CA2694597916 | LAMP2 | c.865-15C>G (n.865-15C>G) c.408-15C>G | gnomAD v4 |
| X | g.120442677G>T | CA2694597917 | LAMP2 | c.865-15C>A (n.865-15C>A) c.408-15C>A | gnomAD v4 |
| X | g.120442678C>T | CA2694597918 | LAMP2 | c.865-16G>A (n.865-16G>A) c.408-16G>A | gnomAD v4 |
| X | g.120442679T>C | CA2694597919 | LAMP2 | c.865-17A>G (n.865-17A>G) c.408-17A>G | gnomAD v4 |
| X | g.120442680T>A | CA644130769 | LAMP2 | c.865-18A>T (n.865-18A>T) c.408-18A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120442680T>C | CA2694597920 | LAMP2 | c.865-18A>G (n.865-18A>G) c.408-18A>G | gnomAD v4 |
| X | g.120442680T= | CA2454871212 | LAMP2 | c.865-18A= (n.865-18A=) c.408-18A= | |
| X | g.120442681C>A | CA2694597921 | LAMP2 | c.865-19G>T (n.865-19G>T) c.408-19G>T | gnomAD v4 |
| X | g.120442681C= | CA2454871213 | LAMP2 | c.865-19G= (n.865-19G=) c.408-19G= | |
| X | g.120442681C>G | CA644130770 | LAMP2 | c.865-19G>C (n.865-19G>C) c.408-19G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442682C>T | CA2694597922 | LAMP2 | c.865-20G>A (n.865-20G>A) c.408-20G>A | gnomAD v4 |
| X | g.120442683A>G | CA2694597923 | LAMP2 | c.865-21T>C (n.865-21T>C) c.408-21T>C | gnomAD v4 |
| X | g.120442684G>T | CA2694597924 | LAMP2 | c.865-22C>A (n.865-22C>A) c.408-22C>A | gnomAD v4 |
| X | g.120442684_120442688delinsGTTAA | CA2454871214 | LAMP2 | c.865-26_865-22delinsTTAAC (n.865-26_865-22delinsTTAAC) c.408-26_408-22delinsTTAAC | |
| X | g.120442686del | CA2579692130 | LAMP2 | c.865-23del (n.865-23del) c.408-23del | |
| X | g.120442689_120442692del | CA644130771 | LAMP2 | c.865-26_865-23del (n.865-26_865-23del) c.408-26_408-23del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442686T>A | CA2694597926 | LAMP2 | c.865-24A>T (n.865-24A>T) c.408-24A>T | gnomAD v4 |
| X | g.120442686T>C | CA2694597925 | LAMP2 | c.865-24A>G (n.865-24A>G) c.408-24A>G | gnomAD v4 |
| X | g.120442689T>A | CA2579692131 | LAMP2 | c.865-27A>T (n.865-27A>T) c.408-27A>T | |
| X | g.120442690T>C | CA2579692132 | LAMP2 | c.865-28A>G (n.865-28A>G) c.408-28A>G | |
| X | g.120442691A= | CA2454871216 | LAMP2 | c.865-29T= (n.865-29T=) c.408-29T= | |
| X | g.120442691A>C | CA2454871215 | LAMP2 | c.865-29T>G (n.865-29T>G) c.408-29T>G | dbSNP gnomAD v4 |
| X | g.120442691A>G | CA2694597927 | LAMP2 | c.865-29T>C (n.865-29T>C) c.408-29T>C | gnomAD v4 |
| X | g.120442692A>G | CA2694597928 | LAMP2 | c.865-30T>C (n.865-30T>C) c.408-30T>C | gnomAD v4 |
| X | g.120442693C= | CA2454871217 | LAMP2 | c.865-31G= (n.865-31G=) c.408-31G= | |
| X | g.120442693C>T | CA2454871218 | LAMP2 | c.865-31G>A (n.865-31G>A) c.408-31G>A | dbSNP gnomAD v4 |
| X | g.120442695T>A | CA10505241 | LAMP2 | c.865-33A>T (n.865-33A>T) c.408-33A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442695T= | CA2454871219 | LAMP2 | c.865-33A= (n.865-33A=) c.408-33A= | |
| X | g.120442696T>C | CA2694597929 | LAMP2 | c.865-34A>G (n.865-34A>G) c.408-34A>G | gnomAD v4 |
| X | g.120442697T>A | CA2694597930 | LAMP2 | c.865-35A>T (n.865-35A>T) c.408-35A>T | gnomAD v4 |
| X | g.120442698C>T | CA2694597932 | LAMP2 | c.865-36G>A (n.865-36G>A) c.408-36G>A | gnomAD v4 |
| X | g.120442699_120442703del | CA2694597931 | LAMP2 | c.865-40_865-36del (n.865-40_865-36del) c.408-40_408-36del | gnomAD v4 |
| X | g.120442699A>C | CA2694597933 | LAMP2 | c.865-37T>G (n.865-37T>G) c.408-37T>G | gnomAD v4 |
| X | g.120442700C= | CA2454871220 | LAMP2 | c.865-38G= (n.865-38G=) c.408-38G= | |
| X | g.120442700C>T | CA10505242 | LAMP2 | c.865-38G>A (n.865-38G>A) c.408-38G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442701A= | CA2454871221 | LAMP2 | c.865-39T= (n.865-39T=) c.408-39T= | |
| X | g.120442701A>C | CA870729397 | LAMP2 | c.865-39T>G (n.865-39T>G) c.408-39T>G | dbSNP |
| X | g.120442701A>G | CA2694597934 | LAMP2 | c.865-39T>C (n.865-39T>C) c.408-39T>C | gnomAD v4 |
| X | g.120442702A= | CA2454871222 | LAMP2 | c.865-40T= (n.865-40T=) c.408-40T= | |
| X | g.120442702A>G | CA10505243 | LAMP2 | c.865-40T>C (n.865-40T>C) c.408-40T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442704T>A | CA644130772 | LAMP2 | c.865-42A>T (n.865-42A>T) c.408-42A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120442704T= | CA2454871223 | LAMP2 | c.865-42A= (n.865-42A=) c.408-42A= | |
| X | g.120442705G>T | CA2579692133 | LAMP2 | c.865-43C>A (n.865-43C>A) c.408-43C>A | gnomAD v4 |
| X | g.120442706T>A | CA2823249105 | LAMP2 | c.865-44A>T (n.865-44A>T) c.408-44A>T | |
| X | g.120442708T>C | CA10505244 | LAMP2 | c.865-46A>G (n.865-46A>G) c.408-46A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442708T= | CA2454871224 | LAMP2 | c.865-46A= (n.865-46A=) c.408-46A= | |
| X | g.120442710C= | CA2454871225 | LAMP2 | c.865-48G= (n.865-48G=) c.408-48G= | |
| X | g.120442710C>G | CA2454871226 | LAMP2 | c.865-48G>C (n.865-48G>C) c.408-48G>C | dbSNP |
| X | g.120442712G>T | CA2694597935 | LAMP2 | c.865-50C>A (n.865-50C>A) c.408-50C>A | gnomAD v4 |
| X | g.120442713A= | CA2454871227 | LAMP2 | c.865-51T= (n.865-51T=) c.408-51T= | |
| X | g.120442713A>G | CA644130773 | LAMP2 | c.865-51T>C (n.865-51T>C) c.408-51T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120442717C>T | CA2694597936 | LAMP2 | c.865-55G>A (n.865-55G>A) c.408-55G>A | gnomAD v4 |
| X | g.120442719G>T | CA2579692134 | LAMP2 | c.865-57C>A (n.865-57C>A) c.408-57C>A | gnomAD v4 |
| X | g.120442720A>G | CA2694597937 | LAMP2 | c.865-58T>C (n.865-58T>C) c.408-58T>C | gnomAD v4 |
| X | g.120442721T>C | CA2694597938 | LAMP2 | c.865-59A>G (n.865-59A>G) c.408-59A>G | gnomAD v4 |
| X | g.120442723C= | CA2454871228 | LAMP2 | c.865-61G= (n.865-61G=) c.408-61G= | |
| X | g.120442723C>T | CA658469804 | LAMP2 | c.865-61G>A (n.865-61G>A) c.408-61G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.120442724G>A | CA335013153 | LAMP2 | c.865-62C>T (n.865-62C>T) c.408-62C>T | dbSNP gnomAD v4 |
| X | g.120442724G= | CA2454871229 | LAMP2 | c.865-62C= (n.865-62C=) c.408-62C= | |
| X | g.120442724G>T | CA2694597939 | LAMP2 | c.865-62C>A (n.865-62C>A) c.408-62C>A | gnomAD v4 |
| X | g.120442725G>T | CA2694597940 | LAMP2 | c.865-63C>A (n.865-63C>A) c.408-63C>A | gnomAD v4 |