Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.183152411dup | CA1057153641 | LAMP3 | c.855dup (p.Gln286SerfsTer13) c.783dup (p.Gln262SerfsTer13) n.915dup | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152410A>C | CA355321343 | LAMP3 | c.853T>G (p.Phe285Val) c.781T>G (p.Phe261Val) n.913T>G | |
3 | g.183152410A>G | CA355321344 | LAMP3 | c.853T>C (p.Phe285Leu) c.781T>C (p.Phe261Leu) n.913T>C | |
3 | g.183152410A>T | CA355321345 | LAMP3 | c.853T>A (p.Phe285Ile) c.781T>A (p.Phe261Ile) n.913T>A | |
3 | g.183152411A>C | CA355321346 | LAMP3 | c.852T>G (p.Asn284Lys) c.780T>G (p.Asn260Lys) n.912T>G | |
3 | g.183152411A>G | CA437096213 | LAMP3 | c.852T>C (p.Asn284=) c.780T>C (p.Asn260=) n.912T>C | |
3 | g.183152411A>T | CA355321347 | LAMP3 | c.852T>A (p.Asn284Lys) c.780T>A (p.Asn260Lys) n.912T>A | |
3 | g.183152412T>A | CA355321348 | LAMP3 | c.851A>T (p.Asn284Ile) c.779A>T (p.Asn260Ile) n.911A>T | |
3 | g.183152412T>C | CA355321349 | LAMP3 | c.851A>G (p.Asn284Ser) c.779A>G (p.Asn260Ser) n.911A>G | |
3 | g.183152412T>G | CA355321350 | LAMP3 | c.851A>C (p.Asn284Thr) c.779A>C (p.Asn260Thr) n.911A>C | |
3 | g.183152413T>A | CA355321351 | LAMP3 | c.850A>T (p.Asn284Tyr) c.778A>T (p.Asn260Tyr) n.910A>T | |
3 | g.183152413T>C | CA355321352 | LAMP3 | c.850A>G (p.Asn284Asp) c.778A>G (p.Asn260Asp) n.910A>G | |
3 | g.183152413T>G | CA355321353 | LAMP3 | c.850A>C (p.Asn284His) c.778A>C (p.Asn260His) n.910A>C | |
3 | g.183152414C>A | CA355321354 | LAMP3 | c.849G>T (p.Leu283Phe) c.777G>T (p.Leu259Phe) n.909G>T | gnomAD v4 |
3 | g.183152414C>G | CA355321355 | LAMP3 | c.849G>C (p.Leu283Phe) c.777G>C (p.Leu259Phe) n.909G>C | |
3 | g.183152414C>T | CA437096217 | LAMP3 | c.849G>A (p.Leu283=) c.777G>A (p.Leu259=) n.909G>A | |
3 | g.183152415A= | CA1425434266 | LAMP3 | c.848T= (p.Leu283=) c.776T= (p.Leu259=) n.908T= | |
3 | g.183152415A>C | CA88719844 | LAMP3 | c.848T>G (p.Leu283Trp) c.776T>G (p.Leu259Trp) n.908T>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152415A>G | CA355321357 | LAMP3 | c.848T>C (p.Leu283Ser) c.776T>C (p.Leu259Ser) n.908T>C | |
3 | g.183152415A>T | CA355321356 | LAMP3 | c.848T>A (p.Leu283Ter) c.776T>A (p.Leu259Ter) n.908T>A | |
3 | g.183152416A>C | CA355321358 | LAMP3 | c.847T>G (p.Leu283Val) c.775T>G (p.Leu259Val) n.907T>G | |
3 | g.183152416A>G | CA437096220 | LAMP3 | c.847T>C (p.Leu283=) c.775T>C (p.Leu259=) n.907T>C | |
3 | g.183152416A>T | CA355321359 | LAMP3 | c.847T>A (p.Leu283Met) c.775T>A (p.Leu259Met) n.907T>A | |
3 | g.183152417C>A | CA437096223 | LAMP3 | c.846G>T (p.Leu282=) c.774G>T (p.Leu258=) n.906G>T | |
3 | g.183152417C>G | CA437096224 | LAMP3 | c.846G>C (p.Leu282=) c.774G>C (p.Leu258=) n.906G>C | |
3 | g.183152417C>T | CA437096225 | LAMP3 | c.846G>A (p.Leu282=) c.774G>A (p.Leu258=) n.906G>A | |
3 | g.183152418A= | CA1425434267 | LAMP3 | c.845T= (p.Leu282=) c.773T= (p.Leu258=) n.905T= | |
3 | g.183152418A>C | CA355321360 | LAMP3 | c.845T>G (p.Leu282Arg) c.773T>G (p.Leu258Arg) n.905T>G | |
3 | g.183152418A>G | CA88719853 | LAMP3 | c.845T>C (p.Leu282Pro) c.773T>C (p.Leu258Pro) n.905T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152418A>T | CA355321361 | LAMP3 | c.845T>A (p.Leu282Gln) c.773T>A (p.Leu258Gln) n.905T>A | |
3 | g.183152419G>A | CA437096229 | LAMP3 | c.844C>T (p.Leu282=) c.772C>T (p.Leu258=) n.904C>T | gnomAD v4 |
3 | g.183152419G>C | CA355321362 | LAMP3 | c.844C>G (p.Leu282Val) c.772C>G (p.Leu258Val) n.904C>G | gnomAD v4 |
3 | g.183152419G= | CA1425434268 | LAMP3 | c.844C= (p.Leu282=) c.772C= (p.Leu258=) n.904C= | |
3 | g.183152419G>T | CA355321363 | LAMP3 | c.844C>A (p.Leu282Met) c.772C>A (p.Leu258Met) n.904C>A | dbSNP |
3 | g.183152420A= | CA1425434269 | LAMP3 | c.843T= (p.Leu281=) c.771T= (p.Leu257=) n.903T= | |
3 | g.183152420A>C | CA437096232 | LAMP3 | c.843T>G (p.Leu281=) c.771T>G (p.Leu257=) n.903T>G | |
3 | g.183152420A>G | CA437096233 | LAMP3 | c.843T>C (p.Leu281=) c.771T>C (p.Leu257=) n.903T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152420A>T | CA437096234 | LAMP3 | c.843T>A (p.Leu281=) c.771T>A (p.Leu257=) n.903T>A | |
3 | g.183152421A>C | CA355321364 | LAMP3 | c.842T>G (p.Leu281Arg) c.770T>G (p.Leu257Arg) n.902T>G | |
3 | g.183152421A>G | CA355321365 | LAMP3 | c.842T>C (p.Leu281Pro) c.770T>C (p.Leu257Pro) n.902T>C | |
3 | g.183152421A>T | CA355321366 | LAMP3 | c.842T>A (p.Leu281His) c.770T>A (p.Leu257His) n.902T>A | |
3 | g.183152422G>A | CA355321367 | LAMP3 | c.841C>T (p.Leu281Phe) c.769C>T (p.Leu257Phe) n.901C>T | |
3 | g.183152422G>C | CA355321368 | LAMP3 | c.841C>G (p.Leu281Val) c.769C>G (p.Leu257Val) n.901C>G | |
3 | g.183152422G>T | CA355321369 | LAMP3 | c.841C>A (p.Leu281Ile) c.769C>A (p.Leu257Ile) n.901C>A | |
3 | g.183152423G>A | CA2719425 | LAMP3 | c.840C>T (p.Asn280=) c.768C>T (p.Asn256=) n.900C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152423G>C | CA2719426 | LAMP3 | c.840C>G (p.Asn280Lys) c.768C>G (p.Asn256Lys) n.900C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152423G= | CA1425434270 | LAMP3 | c.840C= (p.Asn280=) c.768C= (p.Asn256=) n.900C= | |
3 | g.183152423G>T | CA2719424 | LAMP3 | c.840C>A (p.Asn280Lys) c.768C>A (p.Asn256Lys) n.900C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152424T>A | CA355321372 | LAMP3 | c.839A>T (p.Asn280Ile) c.767A>T (p.Asn256Ile) n.899A>T | COSMIC |
3 | g.183152424T>C | CA355321371 | LAMP3 | c.839A>G (p.Asn280Ser) c.767A>G (p.Asn256Ser) n.899A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152424T>G | CA355321370 | LAMP3 | c.839A>C (p.Asn280Thr) c.767A>C (p.Asn256Thr) n.899A>C | |
3 | g.183152424T= | CA1425434271 | LAMP3 | c.839A= (p.Asn280=) c.767A= (p.Asn256=) n.899A= | |
3 | g.183152425T>A | CA355321373 | LAMP3 | c.838A>T (p.Asn280Tyr) c.766A>T (p.Asn256Tyr) n.898A>T | |
3 | g.183152425T>C | CA355321374 | LAMP3 | c.838A>G (p.Asn280Asp) c.766A>G (p.Asn256Asp) n.898A>G | |
3 | g.183152425T>G | CA355321375 | LAMP3 | c.838A>C (p.Asn280His) c.766A>C (p.Asn256His) n.898A>C | |
3 | g.183152426G>A | CA437096242 | LAMP3 | c.837C>T (p.Ser279=) c.765C>T (p.Ser255=) n.897C>T | gnomAD v4 |
3 | g.183152426G>C | CA437096243 | LAMP3 | c.837C>G (p.Ser279=) c.765C>G (p.Ser255=) n.897C>G | |
3 | g.183152426G>T | CA437096244 | LAMP3 | c.837C>A (p.Ser279=) c.765C>A (p.Ser255=) n.897C>A | |
3 | g.183152427G>A | CA355321376 | LAMP3 | c.836C>T (p.Ser279Phe) c.764C>T (p.Ser255Phe) n.896C>T | |
3 | g.183152427G>C | CA355321377 | LAMP3 | c.836C>G (p.Ser279Cys) c.764C>G (p.Ser255Cys) n.896C>G | |
3 | g.183152427G>T | CA355321378 | LAMP3 | c.836C>A (p.Ser279Tyr) c.764C>A (p.Ser255Tyr) n.896C>A | |
3 | g.183152428A>C | CA355321379 | LAMP3 | c.835T>G (p.Ser279Ala) c.763T>G (p.Ser255Ala) n.895T>G | |
3 | g.183152428A>G | CA355321380 | LAMP3 | c.835T>C (p.Ser279Pro) c.763T>C (p.Ser255Pro) n.895T>C | COSMIC |
3 | g.183152428A>T | CA355321381 | LAMP3 | c.835T>A (p.Ser279Thr) c.763T>A (p.Ser255Thr) n.895T>A | |
3 | g.183152429T>A | CA355321382 | LAMP3 | c.834A>T (p.Lys278Asn) c.762A>T (p.Lys254Asn) n.894A>T | |
3 | g.183152429T>C | CA437096248 | LAMP3 | c.834A>G (p.Lys278=) c.762A>G (p.Lys254=) n.894A>G | gnomAD v4 |
3 | g.183152429T>G | CA355321383 | LAMP3 | c.834A>C (p.Lys278Asn) c.762A>C (p.Lys254Asn) n.894A>C | |
3 | g.183152432dup | CA2668720113 | LAMP3 | c.834dup (p.Ser279IlefsTer20) c.762dup (p.Ser255IlefsTer20) n.894dup | gnomAD v4 |
3 | g.183152430T>A | CA355321386 | LAMP3 | c.833A>T (p.Lys278Ile) c.761A>T (p.Lys254Ile) n.893A>T | |
3 | g.183152430T>C | CA355321385 | LAMP3 | c.833A>G (p.Lys278Arg) c.761A>G (p.Lys254Arg) n.893A>G | |
3 | g.183152430T>G | CA355321384 | LAMP3 | c.833A>C (p.Lys278Thr) c.761A>C (p.Lys254Thr) n.893A>C | |
3 | g.183152431T>A | CA355321387 | LAMP3 | c.832A>T (p.Lys278Ter) c.760A>T (p.Lys254Ter) n.892A>T | |
3 | g.183152431T>C | CA355321388 | LAMP3 | c.832A>G (p.Lys278Glu) c.760A>G (p.Lys254Glu) n.892A>G | |
3 | g.183152431T>G | CA355321389 | LAMP3 | c.832A>C (p.Lys278Gln) c.760A>C (p.Lys254Gln) n.892A>C | |
3 | g.183152432_183152437dup | CA2668720114 | LAMP3 | c.827_832dup (p.Arg277_Lys278insThrArg) c.755_760dup (p.Arg253_Lys254insThrArg) n.887_892dup | gnomAD v4 |
3 | g.183152432T>A | CA437096249 | LAMP3 | c.831A>T (p.Arg277=) c.759A>T (p.Arg253=) n.891A>T | |
3 | g.183152432T>C | CA437096250 | LAMP3 | c.831A>G (p.Arg277=) c.759A>G (p.Arg253=) n.891A>G | |
3 | g.183152432T>G | CA437096251 | LAMP3 | c.831A>C (p.Arg277=) c.759A>C (p.Arg253=) n.891A>C | |
3 | g.183152433C>A | CA355321390 | LAMP3 | c.830G>T (p.Arg277Leu) c.758G>T (p.Arg253Leu) n.890G>T | |
3 | g.183152433C= | CA1425434272 | LAMP3 | c.830G= (p.Arg277=) c.758G= (p.Arg253=) n.890G= | |
3 | g.183152433C>G | CA355321391 | LAMP3 | c.830G>C (p.Arg277Pro) c.758G>C (p.Arg253Pro) n.890G>C | |
3 | g.183152433C>T | CA2719427 | LAMP3 | c.830G>A (p.Arg277Gln) c.758G>A (p.Arg253Gln) n.890G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152434G>A | CA2719428 | LAMP3 | c.829C>T (p.Arg277Ter) c.757C>T (p.Arg253Ter) n.889C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152434G>C | CA355321392 | LAMP3 | c.829C>G (p.Arg277Gly) c.757C>G (p.Arg253Gly) n.889C>G | |
3 | g.183152434G= | CA1425434273 | LAMP3 | c.829C= (p.Arg277=) c.757C= (p.Arg253=) n.889C= | |
3 | g.183152434G>T | CA437096258 | LAMP3 | c.829C>A (p.Arg277=) c.757C>A (p.Arg253=) n.889C>A | |
3 | g.183152435G>A | CA437096259 | LAMP3 | c.828C>T (p.Thr276=) c.756C>T (p.Thr252=) n.888C>T | |
3 | g.183152435G>C | CA437096260 | LAMP3 | c.828C>G (p.Thr276=) c.756C>G (p.Thr252=) n.888C>G | |
3 | g.183152435G>T | CA437096261 | LAMP3 | c.828C>A (p.Thr276=) c.756C>A (p.Thr252=) n.888C>A | |
3 | g.183152436G>A | CA355321393 | LAMP3 | c.827C>T (p.Thr276Ile) c.755C>T (p.Thr252Ile) n.887C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152436G>C | CA355321394 | LAMP3 | c.827C>G (p.Thr276Ser) c.755C>G (p.Thr252Ser) n.887C>G | |
3 | g.183152436G= | CA1425434274 | LAMP3 | c.827C= (p.Thr276=) c.755C= (p.Thr252=) n.887C= | |
3 | g.183152436G>T | CA355321395 | LAMP3 | c.827C>A (p.Thr276Asn) c.755C>A (p.Thr252Asn) n.887C>A | |
3 | g.183152437T>A | CA355321396 | LAMP3 | c.826A>T (p.Thr276Ser) c.754A>T (p.Thr252Ser) n.886A>T | |
3 | g.183152437T>C | CA355321397 | LAMP3 | c.826A>G (p.Thr276Ala) c.754A>G (p.Thr252Ala) n.886A>G | |
3 | g.183152437T>G | CA355321398 | LAMP3 | c.826A>C (p.Thr276Pro) c.754A>C (p.Thr252Pro) n.886A>C | |
3 | g.183152437_183152438delinsTG | CA1425434275 | LAMP3 | c.825_826delinsCA (p.Gly275=) c.753_754delinsCA (p.Gly251=) n.885_886delinsCA | |
3 | g.183152438del | CA2719429 | LAMP3 | c.825del (p.Thr276ProfsTer8) c.753del (p.Thr252ProfsTer8) n.885del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152438G>A | CA437096266 | LAMP3 | c.825C>T (p.Gly275=) c.753C>T (p.Gly251=) n.885C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152438G>C | CA437096267 | LAMP3 | c.825C>G (p.Gly275=) c.753C>G (p.Gly251=) n.885C>G | |
3 | g.183152438G= | CA1425434276 | LAMP3 | c.825C= (p.Gly275=) c.753C= (p.Gly251=) n.885C= | |
3 | g.183152438G>T | CA437096265 | LAMP3 | c.825C>A (p.Gly275=) c.753C>A (p.Gly251=) n.885C>A | |
3 | g.183152439C>A | CA355321399 | LAMP3 | c.824G>T (p.Gly275Val) c.752G>T (p.Gly251Val) n.884G>T | |
3 | g.183152439C= | CA1425434277 | LAMP3 | c.824G= (p.Gly275=) c.752G= (p.Gly251=) n.884G= | |
3 | g.183152439C>G | CA355321400 | LAMP3 | c.824G>C (p.Gly275Ala) c.752G>C (p.Gly251Ala) n.884G>C | |
3 | g.183152439C>T | CA355321401 | LAMP3 | c.824G>A (p.Gly275Asp) c.752G>A (p.Gly251Asp) n.884G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152440del | CA355321402 | LAMP3 | c.824del (p.Gly275AlafsTer9) c.752del (p.Gly251AlafsTer9) n.884del | |
3 | g.183152440C>A | CA355321403 | LAMP3 | c.823G>T (p.Gly275Cys) c.751G>T (p.Gly251Cys) n.883G>T | |
3 | g.183152440C= | CA1425434278 | LAMP3 | c.823G= (p.Gly275=) c.751G= (p.Gly251=) n.883G= | |
3 | g.183152440C>G | CA355321404 | LAMP3 | c.823G>C (p.Gly275Arg) c.751G>C (p.Gly251Arg) n.883G>C | |
3 | g.183152440C>T | CA2719430 | LAMP3 | c.823G>A (p.Gly275Ser) c.751G>A (p.Gly251Ser) n.883G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152441A>C | CA355321405 | LAMP3 | c.822T>G (p.Cys274Trp) c.750T>G (p.Cys250Trp) n.882T>G | |
3 | g.183152441A>G | CA437096271 | LAMP3 | c.822T>C (p.Cys274=) c.750T>C (p.Cys250=) n.882T>C | |
3 | g.183152441A>T | CA355321406 | LAMP3 | c.822T>A (p.Cys274Ter) c.750T>A (p.Cys250Ter) n.882T>A | |
3 | g.183152442C>A | CA355321407 | LAMP3 | c.821G>T (p.Cys274Phe) c.749G>T (p.Cys250Phe) n.881G>T | |
3 | g.183152442C>G | CA355321408 | LAMP3 | c.821G>C (p.Cys274Ser) c.749G>C (p.Cys250Ser) n.881G>C | |
3 | g.183152442C>T | CA355321409 | LAMP3 | c.821G>A (p.Cys274Tyr) c.749G>A (p.Cys250Tyr) n.881G>A | |
3 | g.183152443A= | CA1425434279 | LAMP3 | c.820T= (p.Cys274=) c.748T= (p.Cys250=) n.880T= | |
3 | g.183152443A>C | CA355321412 | LAMP3 | c.820T>G (p.Cys274Gly) c.748T>G (p.Cys250Gly) n.880T>G | |
3 | g.183152443A>G | CA355321411 | LAMP3 | c.820T>C (p.Cys274Arg) c.748T>C (p.Cys250Arg) n.880T>C | |
3 | g.183152443A>T | CA355321410 | LAMP3 | c.820T>A (p.Cys274Ser) c.748T>A (p.Cys250Ser) n.880T>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152444G>A | CA437096275 | LAMP3 | c.819C>T (p.Asn273=) c.747C>T (p.Asn249=) n.879C>T | |
3 | g.183152444G>C | CA355321413 | LAMP3 | c.819C>G (p.Asn273Lys) c.747C>G (p.Asn249Lys) n.879C>G | dbSNP |
3 | g.183152444G= | CA1425434280 | LAMP3 | c.819C= (p.Asn273=) c.747C= (p.Asn249=) n.879C= | |
3 | g.183152444G>T | CA355321414 | LAMP3 | c.819C>A (p.Asn273Lys) c.747C>A (p.Asn249Lys) n.879C>A | |
3 | g.183152445T>A | CA355321415 | LAMP3 | c.818A>T (p.Asn273Ile) c.746A>T (p.Asn249Ile) n.878A>T | |
3 | g.183152445T>C | CA355321416 | LAMP3 | c.818A>G (p.Asn273Ser) c.746A>G (p.Asn249Ser) n.878A>G | |
3 | g.183152445T>G | CA355321417 | LAMP3 | c.818A>C (p.Asn273Thr) c.746A>C (p.Asn249Thr) n.878A>C | |
3 | g.183152446T>A | CA355321418 | LAMP3 | c.817A>T (p.Asn273Tyr) c.745A>T (p.Asn249Tyr) n.877A>T | |
3 | g.183152446T>C | CA355321419 | LAMP3 | c.817A>G (p.Asn273Asp) c.745A>G (p.Asn249Asp) n.877A>G | |
3 | g.183152446T>G | CA355321420 | LAMP3 | c.817A>C (p.Asn273His) c.745A>C (p.Asn249His) n.877A>C | |
3 | g.183152447C>A | CA437096282 | LAMP3 | c.816G>T (p.Gly272=) c.744G>T (p.Gly248=) n.876G>T | |
3 | g.183152447C= | CA1425434281 | LAMP3 | c.816G= (p.Gly272=) c.744G= (p.Gly248=) n.876G= | |
3 | g.183152447C>G | CA437096283 | LAMP3 | c.816G>C (p.Gly272=) c.744G>C (p.Gly248=) n.876G>C | gnomAD v4 |
3 | g.183152447C>T | CA437096284 | LAMP3 | c.816G>A (p.Gly272=) c.744G>A (p.Gly248=) n.876G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.183152448C>A | CA355321421 | LAMP3 | c.815G>T (p.Gly272Val) c.743G>T (p.Gly248Val) n.875G>T | |
3 | g.183152448C>G | CA355321422 | LAMP3 | c.815G>C (p.Gly272Ala) c.743G>C (p.Gly248Ala) n.875G>C | gnomAD v4 |
3 | g.183152448C>T | CA355321423 | LAMP3 | c.815G>A (p.Gly272Glu) c.743G>A (p.Gly248Glu) n.875G>A | |
3 | g.183152449C>A | CA355321424 | LAMP3 | c.814G>T (p.Gly272Trp) c.742G>T (p.Gly248Trp) n.874G>T | |
3 | g.183152449C= | CA1425434282 | LAMP3 | c.814G= (p.Gly272=) c.742G= (p.Gly248=) n.874G= | |
3 | g.183152449C>G | CA355321425 | LAMP3 | c.814G>C (p.Gly272Arg) c.742G>C (p.Gly248Arg) n.874G>C | |
3 | g.183152449C>T | CA88719877 | LAMP3 | c.814G>A (p.Gly272Arg) c.742G>A (p.Gly248Arg) n.874G>A | ClinVar dbSNP gnomAD v4 |
3 | g.183152450A>C | CA437096285 | LAMP3 | c.813T>G (p.Ser271=) c.741T>G (p.Ser247=) n.873T>G | |
3 | g.183152450A>G | CA437096286 | LAMP3 | c.813T>C (p.Ser271=) c.741T>C (p.Ser247=) n.873T>C | gnomAD v4 |
3 | g.183152450A>T | CA437096287 | LAMP3 | c.813T>A (p.Ser271=) c.741T>A (p.Ser247=) n.873T>A | |
3 | g.183152451G>A | CA355321428 | LAMP3 | c.812C>T (p.Ser271Phe) c.740C>T (p.Ser247Phe) n.872C>T | gnomAD v4 COSMIC |
3 | g.183152451G>C | CA355321426 | LAMP3 | c.812C>G (p.Ser271Cys) c.740C>G (p.Ser247Cys) n.872C>G | |
3 | g.183152451G>T | CA355321427 | LAMP3 | c.812C>A (p.Ser271Tyr) c.740C>A (p.Ser247Tyr) n.872C>A | |
3 | g.183152452A>C | CA355321429 | LAMP3 | c.811T>G (p.Ser271Ala) c.739T>G (p.Ser247Ala) n.871T>G | |
3 | g.183152452A>G | CA355321430 | LAMP3 | c.811T>C (p.Ser271Pro) c.739T>C (p.Ser247Pro) n.871T>C | |
3 | g.183152452A>T | CA355321431 | LAMP3 | c.811T>A (p.Ser271Thr) c.739T>A (p.Ser247Thr) n.871T>A | |
3 | g.183152453G>A | CA437096290 | LAMP3 | c.810C>T (p.Ala270=) c.738C>T (p.Ala246=) n.870C>T | |
3 | g.183152453G>C | CA437096291 | LAMP3 | c.810C>G (p.Ala270=) c.738C>G (p.Ala246=) n.870C>G | |
3 | g.183152453G>T | CA437096292 | LAMP3 | c.810C>A (p.Ala270=) c.738C>A (p.Ala246=) n.870C>A | |
3 | g.183152454G>A | CA355321432 | LAMP3 | c.809C>T (p.Ala270Val) c.737C>T (p.Ala246Val) n.869C>T | |
3 | g.183152454G>C | CA355321433 | LAMP3 | c.809C>G (p.Ala270Gly) c.737C>G (p.Ala246Gly) n.869C>G | dbSNP gnomAD v4 |
3 | g.183152454G= | CA1425434283 | LAMP3 | c.809C= (p.Ala270=) c.737C= (p.Ala246=) n.869C= | |
3 | g.183152454G>T | CA355321434 | LAMP3 | c.809C>A (p.Ala270Asp) c.737C>A (p.Ala246Asp) n.869C>A | ClinVar dbSNP gnomAD v4 |
3 | g.183152455C>A | CA2719432 | LAMP3 | c.808G>T (p.Ala270Ser) c.736G>T (p.Ala246Ser) n.868G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.183152455C= | CA1425434284 | LAMP3 | c.808G= (p.Ala270=) c.736G= (p.Ala246=) n.868G= | |
3 | g.183152455C>G | CA355321435 | LAMP3 | c.808G>C (p.Ala270Pro) c.736G>C (p.Ala246Pro) n.868G>C | gnomAD v4 |
3 | g.183152455C>T | CA2719431 | LAMP3 | c.808G>A (p.Ala270Thr) c.736G>A (p.Ala246Thr) n.868G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152456T>A | CA355321436 | LAMP3 | c.807A>T (p.Gln269His) c.735A>T (p.Gln245His) n.867A>T | |
3 | g.183152456T>C | CA437096296 | LAMP3 | c.807A>G (p.Gln269=) c.735A>G (p.Gln245=) n.867A>G | |
3 | g.183152456T>G | CA355321437 | LAMP3 | c.807A>C (p.Gln269His) c.735A>C (p.Gln245His) n.867A>C | dbSNP |
3 | g.183152456T= | CA1425434285 | LAMP3 | c.807A= (p.Gln269=) c.735A= (p.Gln245=) n.867A= | |
3 | g.183152464_183152468dup | CA2668720115 | LAMP3 | c.803_807dup (p.Ala270ArgfsTer16) c.731_735dup (p.Ala246ArgfsTer16) n.863_867dup | gnomAD v4 |
3 | g.183152457T>A | CA355321439 | LAMP3 | c.806A>T (p.Gln269Leu) c.734A>T (p.Gln245Leu) n.866A>T | |
3 | g.183152457T>C | CA355321440 | LAMP3 | c.806A>G (p.Gln269Arg) c.734A>G (p.Gln245Arg) n.866A>G | |
3 | g.183152457T>G | CA355321438 | LAMP3 | c.806A>C (p.Gln269Pro) c.734A>C (p.Gln245Pro) n.866A>C | |
3 | g.183152458G>A | CA355321441 | LAMP3 | c.805C>T (p.Gln269Ter) c.733C>T (p.Gln245Ter) n.865C>T | |
3 | g.183152458G>C | CA2719433 | LAMP3 | c.805C>G (p.Gln269Glu) c.733C>G (p.Gln245Glu) n.865C>G | dbSNP ExAC gnomAD v2 |
3 | g.183152458G= | CA1425434286 | LAMP3 | c.805C= (p.Gln269=) c.733C= (p.Gln245=) n.865C= | |
3 | g.183152458G>T | CA355321442 | LAMP3 | c.805C>A (p.Gln269Lys) c.733C>A (p.Gln245Lys) n.865C>A | |
3 | g.183152459C>A | CA437096297 | LAMP3 | c.804G>T (p.Thr268=) c.732G>T (p.Thr244=) n.864G>T | |
3 | g.183152459C= | CA1425434287 | LAMP3 | c.804G= (p.Thr268=) c.732G= (p.Thr244=) n.864G= | |
3 | g.183152459C>G | CA437096298 | LAMP3 | c.804G>C (p.Thr268=) c.732G>C (p.Thr244=) n.864G>C | dbSNP |
3 | g.183152459C>T | CA2719434 | LAMP3 | c.804G>A (p.Thr268=) c.732G>A (p.Thr244=) n.864G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152460G>A | CA2719435 | LAMP3 | c.803C>T (p.Thr268Met) c.731C>T (p.Thr244Met) n.863C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152460G>C | CA2719436 | LAMP3 | c.803C>G (p.Thr268Arg) c.731C>G (p.Thr244Arg) n.863C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152460G= | CA1425434288 | LAMP3 | c.803C= (p.Thr268=) c.731C= (p.Thr244=) n.863C= | |
3 | g.183152460G>T | CA355321443 | LAMP3 | c.803C>A (p.Thr268Lys) c.731C>A (p.Thr244Lys) n.863C>A | |
3 | g.183152461T>A | CA355321444 | LAMP3 | c.802A>T (p.Thr268Ser) c.730A>T (p.Thr244Ser) n.862A>T | |
3 | g.183152461T>C | CA355321445 | LAMP3 | c.802A>G (p.Thr268Ala) c.730A>G (p.Thr244Ala) n.862A>G | |
3 | g.183152461T>G | CA355321446 | LAMP3 | c.802A>C (p.Thr268Pro) c.730A>C (p.Thr244Pro) n.862A>C | |
3 | g.183152462T>A | CA437096299 | LAMP3 | c.801A>T (p.Ala267=) c.729A>T (p.Ala243=) n.861A>T | |
3 | g.183152462T>C | CA437096300 | LAMP3 | c.801A>G (p.Ala267=) c.729A>G (p.Ala243=) n.861A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152462T>G | CA437096301 | LAMP3 | c.801A>C (p.Ala267=) c.729A>C (p.Ala243=) n.861A>C | |
3 | g.183152462T= | CA1425434289 | LAMP3 | c.801A= (p.Ala267=) c.729A= (p.Ala243=) n.861A= | |
3 | g.183152463G>A | CA355321447 | LAMP3 | c.800C>T (p.Ala267Val) c.728C>T (p.Ala243Val) n.860C>T | |
3 | g.183152463G>C | CA355321448 | LAMP3 | c.800C>G (p.Ala267Gly) c.728C>G (p.Ala243Gly) n.860C>G | |
3 | g.183152463G>T | CA355321449 | LAMP3 | c.800C>A (p.Ala267Glu) c.728C>A (p.Ala243Glu) n.860C>A | |
3 | g.183152464C>A | CA355321451 | LAMP3 | c.799G>T (p.Ala267Ser) c.727G>T (p.Ala243Ser) n.859G>T | dbSNP gnomAD v4 |
3 | g.183152464C= | CA1425434290 | LAMP3 | c.799G= (p.Ala267=) c.727G= (p.Ala243=) n.859G= | |
3 | g.183152464C>G | CA355321450 | LAMP3 | c.799G>C (p.Ala267Pro) c.727G>C (p.Ala243Pro) n.859G>C | |
3 | g.183152464C>T | CA2719437 | LAMP3 | c.799G>A (p.Ala267Thr) c.727G>A (p.Ala243Thr) n.859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152465G>A | CA2719439 | LAMP3 | c.798C>T (p.Asn266=) c.726C>T (p.Asn242=) n.858C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152465G>C | CA2719438 | LAMP3 | c.798C>G (p.Asn266Lys) c.726C>G (p.Asn242Lys) n.858C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152465G= | CA1425434291 | LAMP3 | c.798C= (p.Asn266=) c.726C= (p.Asn242=) n.858C= | |
3 | g.183152465G>T | CA2719440 | LAMP3 | c.798C>A (p.Asn266Lys) c.726C>A (p.Asn242Lys) n.858C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152466T>A | CA355321452 | LAMP3 | c.797A>T (p.Asn266Ile) c.725A>T (p.Asn242Ile) n.857A>T | |
3 | g.183152466T>C | CA355321453 | LAMP3 | c.797A>G (p.Asn266Ser) c.725A>G (p.Asn242Ser) n.857A>G | gnomAD v4 |
3 | g.183152466T>G | CA355321454 | LAMP3 | c.797A>C (p.Asn266Thr) c.725A>C (p.Asn242Thr) n.857A>C | |
3 | g.183152467T>A | CA355321455 | LAMP3 | c.796A>T (p.Asn266Tyr) c.724A>T (p.Asn242Tyr) n.856A>T | |
3 | g.183152467T>C | CA355321456 | LAMP3 | c.796A>G (p.Asn266Asp) c.724A>G (p.Asn242Asp) n.856A>G | |
3 | g.183152467T>G | CA355321457 | LAMP3 | c.796A>C (p.Asn266His) c.724A>C (p.Asn242His) n.856A>C | |
3 | g.183152468G>A | CA437096302 | LAMP3 | c.795C>T (p.Pro265=) c.723C>T (p.Pro241=) n.855C>T | |
3 | g.183152468G>C | CA437096303 | LAMP3 | c.795C>G (p.Pro265=) c.723C>G (p.Pro241=) n.855C>G | |
3 | g.183152468G= | CA1425434292 | LAMP3 | c.795C= (p.Pro265=) c.723C= (p.Pro241=) n.855C= | |
3 | g.183152468G>T | CA88719917 | LAMP3 | c.795C>A (p.Pro265=) c.723C>A (p.Pro241=) n.855C>A | dbSNP gnomAD v4 |
3 | g.183152469G>A | CA355321458 | LAMP3 | c.794C>T (p.Pro265Leu) c.722C>T (p.Pro241Leu) n.854C>T | gnomAD v4 |
3 | g.183152469G>C | CA355321459 | LAMP3 | c.794C>G (p.Pro265Arg) c.722C>G (p.Pro241Arg) n.854C>G | |
3 | g.183152469G>T | CA355321460 | LAMP3 | c.794C>A (p.Pro265His) c.722C>A (p.Pro241His) n.854C>A | |
3 | g.183152470_183152471insTGTGTTTGG | CA2759683046 | LAMP3 | c.794_795insAAACACACC (p.Pro265_Asn266insAsnThrPro) c.722_723insAAACACACC (p.Pro241_Asn242insAsnThrPro) n.854_855insAAACACACC | |
3 | g.183152470G>A | CA355321463 | LAMP3 | c.793C>T (p.Pro265Ser) c.721C>T (p.Pro241Ser) n.853C>T | gnomAD v4 |
3 | g.183152470G>C | CA355321462 | LAMP3 | c.793C>G (p.Pro265Ala) c.721C>G (p.Pro241Ala) n.853C>G | |
3 | g.183152470G>T | CA355321461 | LAMP3 | c.793C>A (p.Pro265Thr) c.721C>A (p.Pro241Thr) n.853C>A | |
3 | g.183152471G>A | CA2719441 | LAMP3 | c.792C>T (p.Asp264=) c.720C>T (p.Asp240=) n.852C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152471G>C | CA355321465 | LAMP3 | c.792C>G (p.Asp264Glu) c.720C>G (p.Asp240Glu) n.852C>G | |
3 | g.183152471G= | CA1425434293 | LAMP3 | c.792C= (p.Asp264=) c.720C= (p.Asp240=) n.852C= | |
3 | g.183152471G>T | CA355321464 | LAMP3 | c.792C>A (p.Asp264Glu) c.720C>A (p.Asp240Glu) n.852C>A | gnomAD v4 |
3 | g.183152472T>A | CA355321466 | LAMP3 | c.791A>T (p.Asp264Val) c.719A>T (p.Asp240Val) n.851A>T | |
3 | g.183152472T>C | CA355321467 | LAMP3 | c.791A>G (p.Asp264Gly) c.719A>G (p.Asp240Gly) n.851A>G | |
3 | g.183152472T>G | CA355321468 | LAMP3 | c.791A>C (p.Asp264Ala) c.719A>C (p.Asp240Ala) n.851A>C | dbSNP |
3 | g.183152472T= | CA1425434294 | LAMP3 | c.791A= (p.Asp264=) c.719A= (p.Asp240=) n.851A= | |
3 | g.183152473C>A | CA355321469 | LAMP3 | c.790G>T (p.Asp264Tyr) c.718G>T (p.Asp240Tyr) n.850G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152473C= | CA1425434295 | LAMP3 | c.790G= (p.Asp264=) c.718G= (p.Asp240=) n.850G= | |
3 | g.183152473C>G | CA355321470 | LAMP3 | c.790G>C (p.Asp264His) c.718G>C (p.Asp240His) n.850G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152473C>T | CA88719923 | LAMP3 | c.790G>A (p.Asp264Asn) c.718G>A (p.Asp240Asn) n.850G>A | dbSNP gnomAD v4 |
3 | g.183152474G>A | CA437096306 | LAMP3 | c.789C>T (p.Ile263=) c.717C>T (p.Ile239=) n.849C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152474G>C | CA355321471 | LAMP3 | c.789C>G (p.Ile263Met) c.717C>G (p.Ile239Met) n.849C>G | gnomAD v4 |
3 | g.183152474G= | CA1425434296 | LAMP3 | c.789C= (p.Ile263=) c.717C= (p.Ile239=) n.849C= | |
3 | g.183152474G>T | CA437096305 | LAMP3 | c.789C>A (p.Ile263=) c.717C>A (p.Ile239=) n.849C>A | |
3 | g.183152475A= | CA1425434297 | LAMP3 | c.788T= (p.Ile263=) c.716T= (p.Ile239=) n.848T= | |
3 | g.183152475A>C | CA355321473 | LAMP3 | c.788T>G (p.Ile263Ser) c.716T>G (p.Ile239Ser) n.848T>G | |
3 | g.183152475A>G | CA355321475 | LAMP3 | c.788T>C (p.Ile263Thr) c.716T>C (p.Ile239Thr) n.848T>C | dbSNP |
3 | g.183152475A>T | CA355321477 | LAMP3 | c.788T>A (p.Ile263Asn) c.716T>A (p.Ile239Asn) n.848T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152476T>A | CA355321479 | LAMP3 | c.787A>T (p.Ile263Phe) c.715A>T (p.Ile239Phe) n.847A>T | |
3 | g.183152476T>C | CA355321481 | LAMP3 | c.787A>G (p.Ile263Val) c.715A>G (p.Ile239Val) n.847A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152476T>G | CA355321483 | LAMP3 | c.787A>C (p.Ile263Leu) c.715A>C (p.Ile239Leu) n.847A>C | |
3 | g.183152476T= | CA1425434298 | LAMP3 | c.787A= (p.Ile263=) c.715A= (p.Ile239=) n.847A= | |
3 | g.183152477G>A | CA437096308 | LAMP3 | c.786C>T (p.Asn262=) c.714C>T (p.Asn238=) n.846C>T | gnomAD v4 |
3 | g.183152477G>C | CA355321484 | LAMP3 | c.786C>G (p.Asn262Lys) c.714C>G (p.Asn238Lys) n.846C>G | |
3 | g.183152477G>T | CA355321486 | LAMP3 | c.786C>A (p.Asn262Lys) c.714C>A (p.Asn238Lys) n.846C>A | |
3 | g.183152478T>A | CA355321489 | LAMP3 | c.785A>T (p.Asn262Ile) c.713A>T (p.Asn238Ile) n.845A>T | |
3 | g.183152478T>C | CA355321490 | LAMP3 | c.785A>G (p.Asn262Ser) c.713A>G (p.Asn238Ser) n.845A>G | |
3 | g.183152478T>G | CA355321492 | LAMP3 | c.785A>C (p.Asn262Thr) c.713A>C (p.Asn238Thr) n.845A>C | |
3 | g.183152479T>A | CA355321495 | LAMP3 | c.784A>T (p.Asn262Tyr) c.712A>T (p.Asn238Tyr) n.844A>T | |
3 | g.183152479T>C | CA355321496 | LAMP3 | c.784A>G (p.Asn262Asp) c.712A>G (p.Asn238Asp) n.844A>G | |
3 | g.183152479T>G | CA355321498 | LAMP3 | c.784A>C (p.Asn262His) c.712A>C (p.Asn238His) n.844A>C | |
3 | g.183152480G>A | CA437096309 | LAMP3 | c.783C>T (p.Phe261=) c.711C>T (p.Phe237=) n.843C>T | |
3 | g.183152480G>C | CA355321500 | LAMP3 | c.783C>G (p.Phe261Leu) c.711C>G (p.Phe237Leu) n.843C>G | |
3 | g.183152480G>T | CA355321502 | LAMP3 | c.783C>A (p.Phe261Leu) c.711C>A (p.Phe237Leu) n.843C>A | |
3 | g.183152481A>C | CA355321504 | LAMP3 | c.782T>G (p.Phe261Cys) c.710T>G (p.Phe237Cys) n.842T>G | |
3 | g.183152481A>G | CA355321506 | LAMP3 | c.782T>C (p.Phe261Ser) c.710T>C (p.Phe237Ser) n.842T>C | |
3 | g.183152481A>T | CA355321507 | LAMP3 | c.782T>A (p.Phe261Tyr) c.710T>A (p.Phe237Tyr) n.842T>A | |
3 | g.183152482A>C | CA355321514 | LAMP3 | c.781T>G (p.Phe261Val) c.709T>G (p.Phe237Val) n.841T>G | |
3 | g.183152482A>G | CA355321512 | LAMP3 | c.781T>C (p.Phe261Leu) c.709T>C (p.Phe237Leu) n.841T>C | gnomAD v4 |
3 | g.183152482A>T | CA355321510 | LAMP3 | c.781T>A (p.Phe261Ile) c.709T>A (p.Phe237Ile) n.841T>A | |
3 | g.183152483G>A | CA437096310 | LAMP3 | c.780C>T (p.Tyr260=) c.708C>T (p.Tyr236=) n.840C>T | |
3 | g.183152483G>C | CA355321518 | LAMP3 | c.780C>G (p.Tyr260Ter) c.708C>G (p.Tyr236Ter) n.840C>G | gnomAD v4 |
3 | g.183152483G>T | CA355321516 | LAMP3 | c.780C>A (p.Tyr260Ter) c.708C>A (p.Tyr236Ter) n.840C>A | |
3 | g.183152484T>A | CA355321519 | LAMP3 | c.779A>T (p.Tyr260Phe) c.707A>T (p.Tyr236Phe) n.839A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.183152484T>C | CA355321520 | LAMP3 | c.779A>G (p.Tyr260Cys) c.707A>G (p.Tyr236Cys) n.839A>G | |
3 | g.183152484T>G | CA355321522 | LAMP3 | c.779A>C (p.Tyr260Ser) c.707A>C (p.Tyr236Ser) n.839A>C | |
3 | g.183152484T= | CA1425434299 | LAMP3 | c.779A= (p.Tyr260=) c.707A= (p.Tyr236=) n.839A= | |
3 | g.183152485A= | CA1425434300 | LAMP3 | c.778T= (p.Tyr260=) c.706T= (p.Tyr236=) n.838T= | |
3 | g.183152485A>C | CA355321525 | LAMP3 | c.778T>G (p.Tyr260Asp) c.706T>G (p.Tyr236Asp) n.838T>G | |
3 | g.183152485A>G | CA355321526 | LAMP3 | c.778T>C (p.Tyr260His) c.706T>C (p.Tyr236His) n.838T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152485A>T | CA355321528 | LAMP3 | c.778T>A (p.Tyr260Asn) c.706T>A (p.Tyr236Asn) n.838T>A | |
3 | g.183152486T>A | CA355321530 | LAMP3 | c.777A>T (p.Arg259Ser) c.705A>T (p.Arg235Ser) n.837A>T | |
3 | g.183152486T>C | CA437096311 | LAMP3 | c.777A>G (p.Arg259=) c.705A>G (p.Arg235=) n.837A>G | |
3 | g.183152486T>G | CA355321532 | LAMP3 | c.777A>C (p.Arg259Ser) c.705A>C (p.Arg235Ser) n.837A>C | |
3 | g.183152487C>A | CA2719442 | LAMP3 | c.776G>T (p.Arg259Ile) c.704G>T (p.Arg235Ile) n.836G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152487C= | CA1425434301 | LAMP3 | c.776G= (p.Arg259=) c.704G= (p.Arg235=) n.836G= | |
3 | g.183152487C>G | CA355321535 | LAMP3 | c.776G>C (p.Arg259Thr) c.704G>C (p.Arg235Thr) n.836G>C | |
3 | g.183152487C>T | CA2719443 | LAMP3 | c.776G>A (p.Arg259Lys) c.704G>A (p.Arg235Lys) n.836G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152488T>A | CA355321538 | LAMP3 | c.775A>T (p.Arg259Ter) c.703A>T (p.Arg235Ter) n.835A>T | |
3 | g.183152488T>C | CA355321540 | LAMP3 | c.775A>G (p.Arg259Gly) c.703A>G (p.Arg235Gly) n.835A>G | |
3 | g.183152488T>G | CA437096312 | LAMP3 | c.775A>C (p.Arg259=) c.703A>C (p.Arg235=) n.835A>C | |
3 | g.183152489C>A | CA437096313 | LAMP3 | c.774G>T (p.Arg258=) c.702G>T (p.Arg234=) n.834G>T | |
3 | g.183152489C= | CA1425434302 | LAMP3 | c.774G= (p.Arg258=) c.702G= (p.Arg234=) n.834G= | |
3 | g.183152489C>G | CA437096314 | LAMP3 | c.774G>C (p.Arg258=) c.702G>C (p.Arg234=) n.834G>C | |
3 | g.183152489C>T | CA2719444 | LAMP3 | c.774G>A (p.Arg258=) c.702G>A (p.Arg234=) n.834G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.183152490C>A | CA2719445 | LAMP3 | c.773G>T (p.Arg258Leu) c.701G>T (p.Arg234Leu) n.833G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152490C= | CA1425434303 | LAMP3 | c.773G= (p.Arg258=) c.701G= (p.Arg234=) n.833G= | |
3 | g.183152490C>G | CA355321542 | LAMP3 | c.773G>C (p.Arg258Pro) c.701G>C (p.Arg234Pro) n.833G>C | |
3 | g.183152490C>T | CA2719446 | LAMP3 | c.773G>A (p.Arg258Gln) c.701G>A (p.Arg234Gln) n.833G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152491G>A | CA355321545 | LAMP3 | c.772C>T (p.Arg258Trp) c.700C>T (p.Arg234Trp) n.832C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.183152491G>C | CA355321547 | LAMP3 | c.772C>G (p.Arg258Gly) c.700C>G (p.Arg234Gly) n.832C>G | |
3 | g.183152491G= | CA1425434304 | LAMP3 | c.772C= (p.Arg258=) c.700C= (p.Arg234=) n.832C= | |
3 | g.183152491G>T | CA437096315 | LAMP3 | c.772C>A (p.Arg258=) c.700C>A (p.Arg234=) n.832C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.183152492A>C | CA437096316 | LAMP3 | c.771T>G (p.Pro257=) c.699T>G (p.Pro233=) n.831T>G | |
3 | g.183152492A>G | CA437096318 | LAMP3 | c.771T>C (p.Pro257=) c.699T>C (p.Pro233=) n.831T>C | |
3 | g.183152492A>T | CA437096317 | LAMP3 | c.771T>A (p.Pro257=) c.699T>A (p.Pro233=) n.831T>A | |
3 | g.183152493G>A | CA355321550 | LAMP3 | c.770C>T (p.Pro257Leu) c.698C>T (p.Pro233Leu) n.830C>T | |
3 | g.183152493G>C | CA355321552 | LAMP3 | c.770C>G (p.Pro257Arg) c.698C>G (p.Pro233Arg) n.830C>G | |
3 | g.183152493G>T | CA355321554 | LAMP3 | c.770C>A (p.Pro257His) c.698C>A (p.Pro233His) n.830C>A | |
3 | g.183152494G>A | CA355321556 | LAMP3 | c.769C>T (p.Pro257Ser) c.697C>T (p.Pro233Ser) n.829C>T | |
3 | g.183152494G>C | CA355321558 | LAMP3 | c.769C>G (p.Pro257Ala) c.697C>G (p.Pro233Ala) n.829C>G | |
3 | g.183152494G>T | CA355321560 | LAMP3 | c.769C>A (p.Pro257Thr) c.697C>A (p.Pro233Thr) n.829C>A | |
3 | g.183152495T>A | CA437096319 | LAMP3 | c.768A>T (p.Ser256=) c.696A>T (p.Ser232=) n.828A>T | gnomAD v4 |
3 | g.183152495T>C | CA437096320 | LAMP3 | c.768A>G (p.Ser256=) c.696A>G (p.Ser232=) n.828A>G | |
3 | g.183152495T>G | CA437096321 | LAMP3 | c.768A>C (p.Ser256=) c.696A>C (p.Ser232=) n.828A>C | dbSNP |
3 | g.183152495T= | CA1425434305 | LAMP3 | c.768A= (p.Ser256=) c.696A= (p.Ser232=) n.828A= | |
3 | g.183152496G>A | CA355321562 | LAMP3 | c.767C>T (p.Ser256Leu) c.695C>T (p.Ser232Leu) n.827C>T | COSMIC |
3 | g.183152496G>C | CA355321563 | LAMP3 | c.767C>G (p.Ser256Ter) c.695C>G (p.Ser232Ter) n.827C>G | |
3 | g.183152496G= | CA1425434306 | LAMP3 | c.767C= (p.Ser256=) c.695C= (p.Ser232=) n.827C= | |
3 | g.183152496G>T | CA355321565 | LAMP3 | c.767C>A (p.Ser256Ter) c.695C>A (p.Ser232Ter) n.827C>A | gnomAD v4 |
3 | g.183152497A= | CA1425434307 | LAMP3 | c.766T= (p.Ser256=) c.694T= (p.Ser232=) n.826T= | |
3 | g.183152497A>C | CA355321569 | LAMP3 | c.766T>G (p.Ser256Ala) c.694T>G (p.Ser232Ala) n.826T>G | |
3 | g.183152497A>G | CA88719949 | LAMP3 | c.766T>C (p.Ser256Pro) c.694T>C (p.Ser232Pro) n.826T>C | dbSNP gnomAD v4 |
3 | g.183152497A>T | CA355321567 | LAMP3 | c.766T>A (p.Ser256Thr) c.694T>A (p.Ser232Thr) n.826T>A | |
3 | g.183152502dup | CA1425434308 | LAMP3 | c.766dup (p.Ser256PhefsTer?) c.694dup (p.Ser232PhefsTer?) n.826dup | dbSNP |
3 | g.183152502del | CA2577970280 | LAMP3 | c.766del (p.Ser256HisfsTer28) c.694del (p.Ser232HisfsTer28) n.826del | gnomAD v4 |
3 | g.183152498A>C | CA355321572 | LAMP3 | c.765T>G (p.Phe255Leu) c.693T>G (p.Phe231Leu) n.825T>G | gnomAD v4 |
3 | g.183152498A>G | CA437096322 | LAMP3 | c.765T>C (p.Phe255=) c.693T>C (p.Phe231=) n.825T>C | |
3 | g.183152498A>T | CA355321574 | LAMP3 | c.765T>A (p.Phe255Leu) c.693T>A (p.Phe231Leu) n.825T>A | |
3 | g.183152499A= | CA1425434309 | LAMP3 | c.764T= (p.Phe255=) c.692T= (p.Phe231=) n.824T= | |
3 | g.183152499A>C | CA355321576 | LAMP3 | c.764T>G (p.Phe255Cys) c.692T>G (p.Phe231Cys) n.824T>G | dbSNP |
3 | g.183152499A>G | CA355321578 | LAMP3 | c.764T>C (p.Phe255Ser) c.692T>C (p.Phe231Ser) n.824T>C | gnomAD v4 COSMIC |
3 | g.183152499A>T | CA355321579 | LAMP3 | c.764T>A (p.Phe255Tyr) c.692T>A (p.Phe231Tyr) n.824T>A | |
3 | g.183152500A>C | CA355321581 | LAMP3 | c.763T>G (p.Phe255Val) c.691T>G (p.Phe231Val) n.823T>G | |
3 | g.183152500A>G | CA355321583 | LAMP3 | c.763T>C (p.Phe255Leu) c.691T>C (p.Phe231Leu) n.823T>C | |
3 | g.183152500A>T | CA355321585 | LAMP3 | c.763T>A (p.Phe255Ile) c.691T>A (p.Phe231Ile) n.823T>A | |
3 | g.183152501A= | CA1425434310 | LAMP3 | c.762T= (p.Val254=) c.690T= (p.Val230=) n.822T= | |
3 | g.183152501A>C | CA437096323 | LAMP3 | c.762T>G (p.Val254=) c.690T>G (p.Val230=) n.822T>G | |
3 | g.183152501A>G | CA88719952 | LAMP3 | c.762T>C (p.Val254=) c.690T>C (p.Val230=) n.822T>C | dbSNP gnomAD v4 |
3 | g.183152501A>T | CA437096324 | LAMP3 | c.762T>A (p.Val254=) c.690T>A (p.Val230=) n.822T>A | |
3 | g.183152502A>C | CA355321587 | LAMP3 | c.761T>G (p.Val254Gly) c.689T>G (p.Val230Gly) n.821T>G | COSMIC |
3 | g.183152502A>G | CA355321589 | LAMP3 | c.761T>C (p.Val254Ala) c.689T>C (p.Val230Ala) n.821T>C | |
3 | g.183152502A>T | CA355321591 | LAMP3 | c.761T>A (p.Val254Asp) c.689T>A (p.Val230Asp) n.821T>A | gnomAD v4 |
3 | g.183152503C>A | CA2719447 | LAMP3 | c.760G>T (p.Val254Phe) c.688G>T (p.Val230Phe) n.820G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.183152503C= | CA1425434311 | LAMP3 | c.760G= (p.Val254=) c.688G= (p.Val230=) n.820G= | |
3 | g.183152503C>G | CA355321594 | LAMP3 | c.760G>C (p.Val254Leu) c.688G>C (p.Val230Leu) n.820G>C | |
3 | g.183152503C>T | CA355321596 | LAMP3 | c.760G>A (p.Val254Ile) c.688G>A (p.Val230Ile) n.820G>A | |
3 | g.183152504C>A | CA355321601 | LAMP3 | c.760-1G>T (n.760-1G>T) c.688-1G>T (n.688-1G>T) n.820-1G>T | |
3 | g.183152504C>G | CA355321599 | LAMP3 | c.760-1G>C (n.760-1G>C) c.688-1G>C (n.688-1G>C) n.820-1G>C | COSMIC |
3 | g.183152504C>T | CA355321598 | LAMP3 | c.760-1G>A (n.760-1G>A) c.688-1G>A (n.688-1G>A) n.820-1G>A | |
3 | g.183152505T>A | CA355321603 | LAMP3 | c.760-2A>T (n.760-2A>T) c.688-2A>T (n.688-2A>T) n.820-2A>T | |
3 | g.183152505T>C | CA355321605 | LAMP3 | c.760-2A>G (n.760-2A>G) c.688-2A>G (n.688-2A>G) n.820-2A>G | |
3 | g.183152505T>G | CA355321607 | LAMP3 | c.760-2A>C (n.760-2A>C) c.688-2A>C (n.688-2A>C) n.820-2A>C | |
3 | g.183152508A= | CA1425434312 | LAMP3 | c.760-5T= (n.760-5T=) c.688-5T= (n.688-5T=) n.820-5T= | |
3 | g.183152508A>G | CA903608680 | LAMP3 | c.760-5T>C (n.760-5T>C) c.688-5T>C (n.688-5T>C) n.820-5T>C | dbSNP |
3 | g.183152509T>C | CA2759683048 | LAMP3 | c.760-6A>G (n.760-6A>G) c.688-6A>G (n.688-6A>G) n.820-6A>G | |
3 | g.183152510C>A | CA2668720117 | LAMP3 | c.760-7G>T (n.760-7G>T) c.688-7G>T (n.688-7G>T) n.820-7G>T | gnomAD v4 |
3 | g.183152510C= | CA1425434313 | LAMP3 | c.760-7G= (n.760-7G=) c.688-7G= (n.688-7G=) n.820-7G= | |
3 | g.183152510C>T | CA88719957 | LAMP3 | c.760-7G>A (n.760-7G>A) c.688-7G>A (n.688-7G>A) n.820-7G>A | dbSNP |