| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120447881_120447902del | CA2695235719 | LAMP2 | c.680_701del (p.Asn227ArgfsTer8) c.223_244del | |
| X | g.120447899C>A | CA414401341 | LAMP2 | c.683G>T (p.Gly228Val) c.226G>T | |
| X | g.120447899C>G | CA414401342 | LAMP2 | c.683G>C (p.Gly228Ala) c.226G>C | |
| X | g.120447899C>T | CA414401344 | LAMP2 | c.683G>A (p.Gly228Asp) c.226G>A | |
| X | g.120447900C>A | CA414401346 | LAMP2 | c.682G>T (p.Gly228Cys) c.225G>T | |
| X | g.120447900C>G | CA414401347 | LAMP2 | c.682G>C (p.Gly228Arg) c.225G>C | |
| X | g.120447900C>T | CA414401348 | LAMP2 | c.682G>A (p.Gly228Ser) c.225G>A | |
| X | g.120447901A>C | CA414401349 | LAMP2 | c.681T>G (p.Asn227Lys) c.224T>G | |
| X | g.120447901A>G | CA518401804 | LAMP2 | c.681T>C (p.Asn227=) c.224T>C | |
| X | g.120447901A>T | CA414401350 | LAMP2 | c.681T>A (p.Asn227Lys) c.224T>A | |
| X | g.120447902T>A | CA414401354 | LAMP2 | c.680A>T (p.Asn227Ile) c.223A>T | |
| X | g.120447902T>C | CA414401352 | LAMP2 | c.680A>G (p.Asn227Ser) c.223A>G | |
| X | g.120447902T>G | CA414401351 | LAMP2 | c.680A>C (p.Asn227Thr) c.223A>C | gnomAD v4 |
| X | g.120447903T>A | CA414401355 | LAMP2 | c.679A>T (p.Asn227Tyr) c.222A>T | |
| X | g.120447903T>C | CA414401357 | LAMP2 | c.679A>G (p.Asn227Asp) c.222A>G | |
| X | g.120447903T>G | CA414401358 | LAMP2 | c.679A>C (p.Asn227His) c.222A>C | |
| X | g.120447904A>C | CA414401359 | LAMP2 | c.678T>G (p.Asn226Lys) c.221T>G | |
| X | g.120447904A>G | CA518401807 | LAMP2 | c.678T>C (p.Asn226=) c.221T>C | |
| X | g.120447904A>T | CA414401361 | LAMP2 | c.678T>A (p.Asn226Lys) c.221T>A | |
| X | g.120447905T>A | CA414401362 | LAMP2 | c.677A>T (p.Asn226Ile) c.220A>T | |
| X | g.120447905T>C | CA414401364 | LAMP2 | c.677A>G (p.Asn226Ser) c.220A>G | |
| X | g.120447905T>G | CA414401365 | LAMP2 | c.677A>C (p.Asn226Thr) c.220A>C | |
| X | g.120447906T>A | CA414401367 | LAMP2 | c.676A>T (p.Asn226Tyr) c.219A>T | |
| X | g.120447906T>C | CA10505275 | LAMP2 | c.676A>G (p.Asn226Asp) c.219A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120447906T>G | CA414401369 | LAMP2 | c.676A>C (p.Asn226His) c.219A>C | |
| X | g.120447906T= | CA2454872814 | LAMP2 | c.676A= (p.Asn226=) c.219A= | |
| X | g.120447907A= | CA2454872815 | LAMP2 | c.675T= (p.Val225=) c.218T= | |
| X | g.120447907A>C | CA10505276 | LAMP2 | c.675T>G (p.Val225=) c.218T>G | dbSNP ExAC COSMIC COSMIC COSMIC |
| X | g.120447907A>G | CA518401809 | LAMP2 | c.675T>C (p.Val225=) c.218T>C | |
| X | g.120447907A>T | CA518401810 | LAMP2 | c.675T>A (p.Val225=) c.218T>A | |
| X | g.120447908A>C | CA414401374 | LAMP2 | c.674T>G (p.Val225Gly) c.217T>G | |
| X | g.120447908A>G | CA414401375 | LAMP2 | c.674T>C (p.Val225Ala) c.217T>C | |
| X | g.120447908A>T | CA414401372 | LAMP2 | c.674T>A (p.Val225Asp) c.217T>A | |
| X | g.120447909C>A | CA414401376 | LAMP2 | c.673G>T (p.Val225Phe) c.216G>T | |
| X | g.120447909C>G | CA414401379 | LAMP2 | c.673G>C (p.Val225Leu) c.216G>C | |
| X | g.120447909C>T | CA414401381 | LAMP2 | c.673G>A (p.Val225Ile) c.216G>A | |
| X | g.120447910T>A | CA518401811 | LAMP2 | c.672A>T (p.Ser224=) c.215A>T | |
| X | g.120447910T>C | CA134168 | LAMP2 | c.672A>G (p.Ser224=) c.215A>G | ClinVar dbSNP |
| X | g.120447910T>G | CA518401812 | LAMP2 | c.672A>C (p.Ser224=) c.215A>C | |
| X | g.120447910T= | CA2454872816 | LAMP2 | c.672A= (p.Ser224=) c.215A= | |
| X | g.120447911G>A | CA414401387 | LAMP2 | c.671C>T (p.Ser224Leu) c.214C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447911G>C | CA414401389 | LAMP2 | c.671C>G (p.Ser224Ter) c.214C>G | |
| X | g.120447911G= | CA2454872817 | LAMP2 | c.671C= (p.Ser224=) c.214C= | |
| X | g.120447911G>T | CA414401391 | LAMP2 | c.671C>A (p.Ser224Ter) c.214C>A | |
| X | g.120447912A>C | CA414401393 | LAMP2 | c.670T>G (p.Ser224Ala) c.213T>G | dbSNP gnomAD v4 |
| X | g.120447912A>G | CA414401395 | LAMP2 | c.670T>C (p.Ser224Pro) c.213T>C | |
| X | g.120447912A>T | CA414401396 | LAMP2 | c.670T>A (p.Ser224Thr) c.213T>A | |
| X | g.120447913A= | CA2454872818 | LAMP2 | c.669T= (p.Tyr223=) c.212T= | |
| X | g.120447913A>C | CA414401398 | LAMP2 | c.669T>G (p.Tyr223Ter) c.212T>G | ClinVar dbSNP |
| X | g.120447913A>G | CA518401814 | LAMP2 | c.669T>C (p.Tyr223=) c.212T>C | |
| X | g.120447913A>T | CA414401399 | LAMP2 | c.669T>A (p.Tyr223Ter) c.212T>A | |
| X | g.120447914T>A | CA414401403 | LAMP2 | c.668A>T (p.Tyr223Phe) c.211A>T | |
| X | g.120447914T>C | CA414401404 | LAMP2 | c.668A>G (p.Tyr223Cys) c.211A>G | |
| X | g.120447914T>G | CA414401401 | LAMP2 | c.668A>C (p.Tyr223Ser) c.211A>C | |
| X | g.120447914dup | CA2499226352 | LAMP2 | c.668dup (p.Tyr223Ter) c.211dup | ClinVar dbSNP |
| X | g.120447915A>C | CA414401406 | LAMP2 | c.667T>G (p.Tyr223Asp) c.210T>G | |
| X | g.120447915A>G | CA414401408 | LAMP2 | c.667T>C (p.Tyr223His) c.210T>C | |
| X | g.120447915A>T | CA414401409 | LAMP2 | c.667T>A (p.Tyr223Asn) c.210T>A | |
| X | g.120447917_120447923del | CA2739290556 | LAMP2 | c.661_667del (p.Gly221IlefsTer19) c.204_210del | |
| X | g.120447916G>A | CA518401815 | LAMP2 | c.666C>T (p.Thr222=) c.209C>T | |
| X | g.120447916G>C | CA518401816 | LAMP2 | c.666C>G (p.Thr222=) c.209C>G | |
| X | g.120447916G>T | CA518401817 | LAMP2 | c.666C>A (p.Thr222=) c.209C>A | |
| X | g.120447917G>A | CA414401410 | LAMP2 | c.665C>T (p.Thr222Ile) c.208C>T | |
| X | g.120447917G>C | CA414401413 | LAMP2 | c.665C>G (p.Thr222Ser) c.208C>G | |
| X | g.120447917G>T | CA414401414 | LAMP2 | c.665C>A (p.Thr222Asn) c.208C>A | |
| X | g.120447918T>A | CA414401417 | LAMP2 | c.664A>T (p.Thr222Ser) c.207A>T | |
| X | g.120447918T>C | CA414401415 | LAMP2 | c.664A>G (p.Thr222Ala) c.207A>G | |
| X | g.120447918T>G | CA414401416 | LAMP2 | c.664A>C (p.Thr222Pro) c.207A>C | |
| X | g.120447919T>A | CA518401820 | LAMP2 | c.663A>T (p.Gly221=) c.206A>T | |
| X | g.120447919T>C | CA518401823 | LAMP2 | c.663A>G (p.Gly221=) c.206A>G | |
| X | g.120447919T>G | CA518401822 | LAMP2 | c.663A>C (p.Gly221=) c.206A>C | |
| X | g.120447920C>A | CA414401418 | LAMP2 | c.662G>T (p.Gly221Val) c.205G>T | COSMIC COSMIC COSMIC |
| X | g.120447920C>G | CA414401420 | LAMP2 | c.662G>C (p.Gly221Ala) c.205G>C | |
| X | g.120447920C>T | CA414401421 | LAMP2 | c.662G>A (p.Gly221Glu) c.205G>A | |
| X | g.120447921C>A | CA414401423 | LAMP2 | c.661G>T (p.Gly221Ter) c.204G>T | |
| X | g.120447921C= | CA2454872819 | LAMP2 | c.661G= (p.Gly221=) c.204G= | |
| X | g.120447921C>G | CA414401424 | LAMP2 | c.661G>C (p.Gly221Arg) c.204G>C | |
| X | g.120447921C>T | CA134161 | LAMP2 | c.661G>A (p.Gly221Arg) c.204G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120447922A= | CA2454872820 | LAMP2 | c.660T= (p.Ala220=) c.203T= | |
| X | g.120447922A>C | CA518401825 | LAMP2 | c.660T>G (p.Ala220=) c.203T>G | |
| X | g.120447922A>G | CA518401826 | LAMP2 | c.660T>C (p.Ala220=) c.203T>C | dbSNP |
| X | g.120447922A>T | CA518401827 | LAMP2 | c.660T>A (p.Ala220=) c.203T>A | |
| X | g.120447923G>A | CA414401429 | LAMP2 | c.659C>T (p.Ala220Val) c.202C>T | |
| X | g.120447923G>C | CA414401430 | LAMP2 | c.659C>G (p.Ala220Gly) c.202C>G | |
| X | g.120447923G>T | CA414401428 | LAMP2 | c.659C>A (p.Ala220Asp) c.202C>A | |
| X | g.120447923dup | CA16621190 | LAMP2 | c.659dup (p.Gly221TrpfsTer6) c.202dup | ClinVar dbSNP |
| X | g.120447924C>A | CA414401433 | LAMP2 | c.658G>T (p.Ala220Ser) c.201G>T | |
| X | g.120447924C>G | CA414401432 | LAMP2 | c.658G>C (p.Ala220Pro) c.201G>C | |
| X | g.120447924C>T | CA414401434 | LAMP2 | c.658G>A (p.Ala220Thr) c.201G>A | |
| X | g.120447925T>A | CA414401435 | LAMP2 | c.657A>T (p.Glu219Asp) c.200A>T | |
| X | g.120447925T>C | CA10577159 | LAMP2 | c.657A>G (p.Glu219=) c.200A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447925T>G | CA414401437 | LAMP2 | c.657A>C (p.Glu219Asp) c.200A>C | |
| X | g.120447925T= | CA2454872821 | LAMP2 | c.657A= (p.Glu219=) c.200A= | |
| X | g.120447926T>A | CA414401438 | LAMP2 | c.656A>T (p.Glu219Val) c.199A>T | |
| X | g.120447926T>C | CA414401441 | LAMP2 | c.656A>G (p.Glu219Gly) c.199A>G | |
| X | g.120447926T>G | CA414401440 | LAMP2 | c.656A>C (p.Glu219Ala) c.199A>C | |
| X | g.120447927C>A | CA414401442 | LAMP2 | c.655G>T (p.Glu219Ter) c.198G>T | |
| X | g.120447927C>G | CA414401443 | LAMP2 | c.655G>C (p.Glu219Gln) c.198G>C | |
| X | g.120447927C>T | CA414401444 | LAMP2 | c.655G>A (p.Glu219Lys) c.198G>A | |
| X | g.120447928T>A | CA518401828 | LAMP2 | c.654A>T (p.Pro218=) c.197A>T | |
| X | g.120447928T>C | CA518401829 | LAMP2 | c.654A>G (p.Pro218=) c.197A>G | gnomAD v4 |
| X | g.120447928T>G | CA518401830 | LAMP2 | c.654A>C (p.Pro218=) c.197A>C | |
| X | g.120447929G>A | CA414401446 | LAMP2 | c.653C>T (p.Pro218Leu) c.196C>T | |
| X | g.120447929G>C | CA414401447 | LAMP2 | c.653C>G (p.Pro218Arg) c.196C>G | |
| X | g.120447929G>T | CA414401454 | LAMP2 | c.653C>A (p.Pro218Gln) c.196C>A | gnomAD v4 |
| X | g.120447930del | CA2697544736 | LAMP2 | c.653del (p.Pro218GlnfsTer24) c.196del | ClinVar |
| X | g.120447930G>A | CA414401456 | LAMP2 | c.652C>T (p.Pro218Ser) c.195C>T | |
| X | g.120447930G>C | CA414401462 | LAMP2 | c.652C>G (p.Pro218Ala) c.195C>G | |
| X | g.120447930G= | CA2454872822 | LAMP2 | c.652C= (p.Pro218=) c.195C= | |
| X | g.120447930G>T | CA414401464 | LAMP2 | c.652C>A (p.Pro218Thr) c.195C>A | COSMIC COSMIC |
| X | g.120447931T>A | CA414401465 | LAMP2 | c.651A>T (p.Lys217Asn) c.194A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447931T>C | CA518401831 | LAMP2 | c.651A>G (p.Lys217=) c.194A>G | |
| X | g.120447931T>G | CA414401466 | LAMP2 | c.651A>C (p.Lys217Asn) c.194A>C | |
| X | g.120447931T= | CA2454872823 | LAMP2 | c.651A= (p.Lys217=) c.194A= | |
| X | g.120447935dup | CA333710 | LAMP2 | c.651dup (p.Pro218ThrfsTer9) c.194dup | ClinVar dbSNP |
| X | g.120447932T>A | CA414401471 | LAMP2 | c.650A>T (p.Lys217Ile) c.193A>T | |
| X | g.120447932T>C | CA414401467 | LAMP2 | c.650A>G (p.Lys217Arg) c.193A>G | |
| X | g.120447932T>G | CA414401468 | LAMP2 | c.650A>C (p.Lys217Thr) c.193A>C | |
| X | g.120447933T>A | CA414401473 | LAMP2 | c.649A>T (p.Lys217Ter) c.192A>T | |
| X | g.120447933T>C | CA414401474 | LAMP2 | c.649A>G (p.Lys217Glu) c.192A>G | |
| X | g.120447933T>G | CA414401476 | LAMP2 | c.649A>C (p.Lys217Gln) c.192A>C | |
| X | g.120447934T>A | CA414401477 | LAMP2 | c.648A>T (p.Glu216Asp) c.191A>T | |
| X | g.120447934T>C | CA518401832 | LAMP2 | c.648A>G (p.Glu216=) c.191A>G | |
| X | g.120447934T>G | CA414401479 | LAMP2 | c.648A>C (p.Glu216Asp) c.191A>C | |
| X | g.120447935T>A | CA414401481 | LAMP2 | c.647A>T (p.Glu216Val) c.190A>T | |
| X | g.120447935T>C | CA414401482 | LAMP2 | c.647A>G (p.Glu216Gly) c.190A>G | |
| X | g.120447935T>G | CA414401483 | LAMP2 | c.647A>C (p.Glu216Ala) c.190A>C | |
| X | g.120447936C>A | CA414401484 | LAMP2 | c.646G>T (p.Glu216Ter) c.189G>T | ClinVar dbSNP |
| X | g.120447936C>G | CA414401485 | LAMP2 | c.646G>C (p.Glu216Gln) c.189G>C | |
| X | g.120447936C>T | CA414401486 | LAMP2 | c.646G>A (p.Glu216Lys) c.189G>A | COSMIC COSMIC COSMIC |
| X | g.120447937C>A | CA414401488 | LAMP2 | c.645G>T (p.Lys215Asn) c.188G>T | |
| X | g.120447937C>G | CA414401489 | LAMP2 | c.645G>C (p.Lys215Asn) c.188G>C | |
| X | g.120447937C>T | CA518401833 | LAMP2 | c.645G>A (p.Lys215=) c.188G>A | |
| X | g.120447938T>A | CA414401491 | LAMP2 | c.644A>T (p.Lys215Met) c.187A>T | |
| X | g.120447938T>C | CA414401495 | LAMP2 | c.644A>G (p.Lys215Arg) c.187A>G | |
| X | g.120447938T>G | CA414401496 | LAMP2 | c.644A>C (p.Lys215Thr) c.187A>C | |
| X | g.120447939T>A | CA414401498 | LAMP2 | c.643A>T (p.Lys215Ter) c.186A>T | |
| X | g.120447939T>C | CA414401499 | LAMP2 | c.643A>G (p.Lys215Glu) c.186A>G | ClinVar dbSNP gnomAD v4 |
| X | g.120447939T>G | CA414401501 | LAMP2 | c.643A>C (p.Lys215Gln) c.186A>C | |
| X | g.120447939T= | CA2454872824 | LAMP2 | c.643A= (p.Lys215=) c.186A= | |
| X | g.120447940T>A | CA518401836 | LAMP2 | c.642A>T (p.Pro214=) c.185A>T | |
| X | g.120447940T>C | CA518401835 | LAMP2 | c.642A>G (p.Pro214=) c.185A>G | |
| X | g.120447940T>G | CA518401834 | LAMP2 | c.642A>C (p.Pro214=) c.185A>C | |
| X | g.120447941G>A | CA414401502 | LAMP2 | c.641C>T (p.Pro214Leu) c.184C>T | |
| X | g.120447941G>C | CA414401504 | LAMP2 | c.641C>G (p.Pro214Arg) c.184C>G | |
| X | g.120447941G>T | CA414401505 | LAMP2 | c.641C>A (p.Pro214Gln) c.184C>A | |
| X | g.120447942G>A | CA414401508 | LAMP2 | c.640C>T (p.Pro214Ser) c.183C>T | |
| X | g.120447942G>C | CA414401509 | LAMP2 | c.640C>G (p.Pro214Ala) c.183C>G | |
| X | g.120447942G= | CA2454872825 | LAMP2 | c.640C= (p.Pro214=) c.183C= | |
| X | g.120447942G>T | CA10505277 | LAMP2 | c.640C>A (p.Pro214Thr) c.183C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120447943A>C | CA518401839 | LAMP2 | c.639T>G (p.Thr213=) c.182T>G | |
| X | g.120447943A>G | CA518401838 | LAMP2 | c.639T>C (p.Thr213=) c.182T>C | |
| X | g.120447943A>T | CA518401837 | LAMP2 | c.639T>A (p.Thr213=) c.182T>A | |
| X | g.120447944G>A | CA414401515 | LAMP2 | c.638C>T (p.Thr213Ile) c.181C>T | ClinVar |
| X | g.120447944G>C | CA414401514 | LAMP2 | c.638C>G (p.Thr213Ser) c.181C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447944G= | CA2454872826 | LAMP2 | c.638C= (p.Thr213=) c.181C= | |
| X | g.120447944G>T | CA414401513 | LAMP2 | c.638C>A (p.Thr213Asn) c.181C>A | |
| X | g.120447945T>A | CA414401517 | LAMP2 | c.637A>T (p.Thr213Ser) c.180A>T | |
| X | g.120447945T>C | CA414401518 | LAMP2 | c.637A>G (p.Thr213Ala) c.180A>G | |
| X | g.120447945T>G | CA414401519 | LAMP2 | c.637A>C (p.Thr213Pro) c.180A>C | |
| X | g.120447946A= | CA2454872827 | LAMP2 | c.636T= (p.Pro212=) c.179T= | |
| X | g.120447946A>C | CA518401840 | LAMP2 | c.636T>G (p.Pro212=) c.179T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447946A>G | CA518401842 | LAMP2 | c.636T>C (p.Pro212=) c.179T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447946A>T | CA518401841 | LAMP2 | c.636T>A (p.Pro212=) c.179T>A | gnomAD v4 |
| X | g.120447947G>A | CA414401520 | LAMP2 | c.635C>T (p.Pro212Leu) c.178C>T | |
| X | g.120447947G>C | CA414401522 | LAMP2 | c.635C>G (p.Pro212Arg) c.178C>G | |
| X | g.120447947G>T | CA414401523 | LAMP2 | c.635C>A (p.Pro212His) c.178C>A | |
| X | g.120447948G>A | CA414401525 | LAMP2 | c.634C>T (p.Pro212Ser) c.177C>T | |
| X | g.120447948G>C | CA414401529 | LAMP2 | c.634C>G (p.Pro212Ala) c.177C>G | |
| X | g.120447948G>T | CA414401531 | LAMP2 | c.634C>A (p.Pro212Thr) c.177C>A | |
| X | g.120447949T>A | CA518401843 | LAMP2 | c.633A>T (p.Thr211=) c.176A>T | |
| X | g.120447949T>C | CA518401844 | LAMP2 | c.633A>G (p.Thr211=) c.176A>G | |
| X | g.120447949T>G | CA518401845 | LAMP2 | c.633A>C (p.Thr211=) c.176A>C | |
| X | g.120447950G>A | CA414401532 | LAMP2 | c.632C>T (p.Thr211Ile) c.175C>T | ClinVar gnomAD v4 |
| X | g.120447950G>C | CA414401534 | LAMP2 | c.632C>G (p.Thr211Arg) c.175C>G | |
| X | g.120447950G>T | CA414401535 | LAMP2 | c.632C>A (p.Thr211Lys) c.175C>A | |
| X | g.120447951T>A | CA414401540 | LAMP2 | c.631A>T (p.Thr211Ser) c.174A>T | |
| X | g.120447951T>C | CA414401539 | LAMP2 | c.631A>G (p.Thr211Ala) c.174A>G | gnomAD v4 |
| X | g.120447951T>G | CA414401537 | LAMP2 | c.631A>C (p.Thr211Pro) c.174A>C | |
| X | g.120447951T= | CA2454872828 | LAMP2 | c.631A= (p.Thr211=) c.174A= | |
| X | g.120447951_120447952insCTATCTTTATCAATACATCCTTTTTGCA | CA2454872829 | LAMP2 | c.630_631insTGCAAAAAGGATGTATTGATAAAGATAG (p.Thr211CysfsTer25) c.173_174insTGCAAAAAGGATGTATTGATAAAGATAG | dbSNP |
| X | g.120447952T>A | CA518401846 | LAMP2 | c.630A>T (p.Thr210=) c.173A>T | |
| X | g.120447952T>C | CA335013521 | LAMP2 | c.630A>G (p.Thr210=) c.173A>G | dbSNP |
| X | g.120447952T>G | CA518401847 | LAMP2 | c.630A>C (p.Thr210=) c.173A>C | |
| X | g.120447952T= | CA2454872830 | LAMP2 | c.630A= (p.Thr210=) c.173A= | |
| X | g.120447953G>A | CA414401549 | LAMP2 | c.629C>T (p.Thr210Ile) c.172C>T | |
| X | g.120447953G>C | CA414401545 | LAMP2 | c.629C>G (p.Thr210Arg) c.172C>G | |
| X | g.120447953G= | CA2454872831 | LAMP2 | c.629C= (p.Thr210=) c.172C= | |
| X | g.120447953G>T | CA414401548 | LAMP2 | c.629C>A (p.Thr210Lys) c.172C>A | ClinVar dbSNP |
| X | g.120447954T>A | CA414401551 | LAMP2 | c.628A>T (p.Thr210Ser) c.171A>T | |
| X | g.120447954T>C | CA414401553 | LAMP2 | c.628A>G (p.Thr210Ala) c.171A>G | |
| X | g.120447954T>G | CA414401554 | LAMP2 | c.628A>C (p.Thr210Pro) c.171A>C | |
| X | g.120447955A= | CA2454872832 | LAMP2 | c.627T= (p.Thr209=) c.170T= | |
| X | g.120447955A>C | CA518401848 | LAMP2 | c.627T>G (p.Thr209=) c.170T>G | |
| X | g.120447955A>G | CA518401849 | LAMP2 | c.627T>C (p.Thr209=) c.170T>C | |
| X | g.120447955A>T | CA10505278 | LAMP2 | c.627T>A (p.Thr209=) c.170T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120447956G>A | CA414401555 | LAMP2 | c.626C>T (p.Thr209Ile) c.169C>T | |
| X | g.120447956G>C | CA414401557 | LAMP2 | c.626C>G (p.Thr209Ser) c.169C>G | |
| X | g.120447956G>T | CA414401558 | LAMP2 | c.626C>A (p.Thr209Asn) c.169C>A | |
| X | g.120447957T>A | CA414401559 | LAMP2 | c.625A>T (p.Thr209Ser) c.168A>T | |
| X | g.120447957T>C | CA414401560 | LAMP2 | c.625A>G (p.Thr209Ala) c.168A>G | gnomAD v4 |
| X | g.120447957T>G | CA414401561 | LAMP2 | c.625A>C (p.Thr209Pro) c.168A>C | |
| X | g.120447958A>C | CA518401850 | LAMP2 | c.624T>G (p.Pro208=) c.167T>G | |
| X | g.120447958A>G | CA518401851 | LAMP2 | c.624T>C (p.Pro208=) c.167T>C | |
| X | g.120447958A>T | CA518401852 | LAMP2 | c.624T>A (p.Pro208=) c.167T>A | |
| X | g.120447959G>A | CA414401564 | LAMP2 | c.623C>T (p.Pro208Leu) c.166C>T | gnomAD v4 |
| X | g.120447959G>C | CA414401563 | LAMP2 | c.623C>G (p.Pro208Arg) c.166C>G | |
| X | g.120447959G>T | CA414401562 | LAMP2 | c.623C>A (p.Pro208His) c.166C>A | |
| X | g.120447960G>A | CA414401565 | LAMP2 | c.622C>T (p.Pro208Ser) c.165C>T | gnomAD v4 |
| X | g.120447960G>C | CA414401566 | LAMP2 | c.622C>G (p.Pro208Ala) c.165C>G | |
| X | g.120447960G>T | CA414401567 | LAMP2 | c.622C>A (p.Pro208Thr) c.165C>A | |
| X | g.120447961A>C | CA518401853 | LAMP2 | c.621T>G (p.Ser207=) c.164T>G | |
| X | g.120447961A>G | CA518401855 | LAMP2 | c.621T>C (p.Ser207=) c.164T>C | |
| X | g.120447961A>T | CA518401854 | LAMP2 | c.621T>A (p.Ser207=) c.164T>A | |
| X | g.120447962G>A | CA414401568 | LAMP2 | c.620C>T (p.Ser207Phe) c.163C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447962G>C | CA414401570 | LAMP2 | c.620C>G (p.Ser207Cys) c.163C>G | |
| X | g.120447962G= | CA2454872833 | LAMP2 | c.620C= (p.Ser207=) c.163C= | |
| X | g.120447962G>T | CA414401571 | LAMP2 | c.620C>A (p.Ser207Tyr) c.163C>A | |
| X | g.120447963A>C | CA414401573 | LAMP2 | c.619T>G (p.Ser207Ala) c.162T>G | |
| X | g.120447963A>G | CA414401574 | LAMP2 | c.619T>C (p.Ser207Pro) c.162T>C | |
| X | g.120447963A>T | CA414401575 | LAMP2 | c.619T>A (p.Ser207Thr) c.162T>A | |
| X | g.120447964T>A | CA518401856 | LAMP2 | c.618A>T (p.Pro206=) c.161A>T | |
| X | g.120447964T>C | CA518401857 | LAMP2 | c.618A>G (p.Pro206=) c.161A>G | gnomAD v4 |
| X | g.120447964T>G | CA518401858 | LAMP2 | c.618A>C (p.Pro206=) c.161A>C | |
| X | g.120447965G>A | CA414401576 | LAMP2 | c.617C>T (p.Pro206Leu) c.160C>T | ClinVar dbSNP |
| X | g.120447965G>C | CA414401579 | LAMP2 | c.617C>G (p.Pro206Arg) c.160C>G | |
| X | g.120447965G= | CA2454872834 | LAMP2 | c.617C= (p.Pro206=) c.160C= | |
| X | g.120447965G>T | CA414401580 | LAMP2 | c.617C>A (p.Pro206Gln) c.160C>A | |
| X | g.120447966G>A | CA414401586 | LAMP2 | c.616C>T (p.Pro206Ser) c.159C>T | dbSNP gnomAD v4 |
| X | g.120447966G>C | CA414401585 | LAMP2 | c.616C>G (p.Pro206Ala) c.159C>G | |
| X | g.120447966G= | CA2454872835 | LAMP2 | c.616C= (p.Pro206=) c.159C= | |
| X | g.120447966G>T | CA414401584 | LAMP2 | c.616C>A (p.Pro206Thr) c.159C>A | |
| X | g.120447966_120447968delinsGCA | CA2454872836 | LAMP2 | c.614_616delinsTGC (p.Val205=) c.157_159delinsTGC | |
| X | g.120447967C>A | CA518401859 | LAMP2 | c.615G>T (p.Val205=) c.158G>T | |
| X | g.120447967C>G | CA518401860 | LAMP2 | c.615G>C (p.Val205=) c.158G>C | |
| X | g.120447967C>T | CA518401861 | LAMP2 | c.615G>A (p.Val205=) c.158G>A | |
| X | g.120447969_120447970del | CA2454872837 | LAMP2 | c.614_615del (p.Val205AlafsTer21) c.157_158del | ClinVar dbSNP |
| X | g.120447968A>C | CA414401588 | LAMP2 | c.614T>G (p.Val205Gly) c.157T>G | |
| X | g.120447968A>G | CA414401589 | LAMP2 | c.614T>C (p.Val205Ala) c.157T>C | |
| X | g.120447968A>T | CA414401591 | LAMP2 | c.614T>A (p.Val205Glu) c.157T>A | |
| X | g.120447968_120447969insATGATACTTGT | CA2524079089 | LAMP2 | c.613_614insACAAGTATCAT (p.Val205AspfsTer?) c.156_157insACAAGTATCAT | |
| X | g.120447969C>A | CA414401593 | LAMP2 | c.613G>T (p.Val205Leu) c.156G>T | |
| X | g.120447969C>G | CA414401594 | LAMP2 | c.613G>C (p.Val205Leu) c.156G>C | |
| X | g.120447969C>T | CA414401596 | LAMP2 | c.613G>A (p.Val205Met) c.156G>A | |
| X | g.120447970A>C | CA518401862 | LAMP2 | c.612T>G (p.Thr204=) c.155T>G | |
| X | g.120447970A>G | CA518401863 | LAMP2 | c.612T>C (p.Thr204=) c.155T>C | |
| X | g.120447970A>T | CA518401864 | LAMP2 | c.612T>A (p.Thr204=) c.155T>A | |
| X | g.120447971G>A | CA414401598 | LAMP2 | c.611C>T (p.Thr204Ile) c.154C>T | ClinVar dbSNP gnomAD v2 |
| X | g.120447971G>C | CA414401599 | LAMP2 | c.611C>G (p.Thr204Ser) c.154C>G | |
| X | g.120447971G= | CA2454872838 | LAMP2 | c.611C= (p.Thr204=) c.154C= | |
| X | g.120447971G>T | CA414401601 | LAMP2 | c.611C>A (p.Thr204Asn) c.154C>A | |
| X | g.120447972T>A | CA414401602 | LAMP2 | c.610A>T (p.Thr204Ser) c.153A>T | |
| X | g.120447972T>C | CA414401604 | LAMP2 | c.610A>G (p.Thr204Ala) c.153A>G | |
| X | g.120447972T>G | CA10577156 | LAMP2 | c.610A>C (p.Thr204Pro) c.153A>C | ClinVar dbSNP |
| X | g.120447972T= | CA2454872839 | LAMP2 | c.610A= (p.Thr204=) c.153A= | |
| X | g.120447973G>A | CA518401865 | LAMP2 | c.609C>T (p.Thr203=) c.152C>T | |
| X | g.120447973G>C | CA518401867 | LAMP2 | c.609C>G (p.Thr203=) c.152C>G | |
| X | g.120447973G= | CA2454872840 | LAMP2 | c.609C= (p.Thr203=) c.152C= | |
| X | g.120447973G>T | CA518401866 | LAMP2 | c.609C>A (p.Thr203=) c.152C>A | ClinVar dbSNP |
| X | g.120447974G>A | CA414401608 | LAMP2 | c.608C>T (p.Thr203Ile) c.151C>T | |
| X | g.120447974G>C | CA414401607 | LAMP2 | c.608C>G (p.Thr203Ser) c.151C>G | |
| X | g.120447974G>T | CA414401606 | LAMP2 | c.608C>A (p.Thr203Asn) c.151C>A | |
| X | g.120447975T>A | CA414401610 | LAMP2 | c.607A>T (p.Thr203Ser) c.150A>T | |
| X | g.120447975T>C | CA414401612 | LAMP2 | c.607A>G (p.Thr203Ala) c.150A>G | |
| X | g.120447975T>G | CA414401613 | LAMP2 | c.607A>C (p.Thr203Pro) c.150A>C | |
| X | g.120447976G>A | CA518401868 | LAMP2 | c.606C>T (p.His202=) c.149C>T | |
| X | g.120447976G>C | CA414401614 | LAMP2 | c.606C>G (p.His202Gln) c.149C>G | |
| X | g.120447976G>T | CA414401616 | LAMP2 | c.606C>A (p.His202Gln) c.149C>A | |
| X | g.120447977T>A | CA414401617 | LAMP2 | c.605A>T (p.His202Leu) c.148A>T | |
| X | g.120447977T>C | CA414401619 | LAMP2 | c.605A>G (p.His202Arg) c.148A>G | |
| X | g.120447977T>G | CA333617 | LAMP2 | c.605A>C (p.His202Pro) c.148A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447977T= | CA2454872841 | LAMP2 | c.605A= (p.His202=) c.148A= | |
| X | g.120447978G>A | CA414401620 | LAMP2 | c.604C>T (p.His202Tyr) c.147C>T | gnomAD v4 |
| X | g.120447978G>C | CA414401621 | LAMP2 | c.604C>G (p.His202Asp) c.147C>G | |
| X | g.120447978G>T | CA414401622 | LAMP2 | c.604C>A (p.His202Asn) c.147C>A | |
| X | g.120447979T>A | CA518401869 | LAMP2 | c.603A>T (p.Ile201=) c.146A>T | |
| X | g.120447979T>C | CA414401623 | LAMP2 | c.603A>G (p.Ile201Met) c.146A>G | |
| X | g.120447979T>G | CA518401870 | LAMP2 | c.603A>C (p.Ile201=) c.146A>C | |
| X | g.120447980A= | CA2454872842 | LAMP2 | c.602T= (p.Ile201=) c.145T= | |
| X | g.120447980A>C | CA414401625 | LAMP2 | c.602T>G (p.Ile201Arg) c.145T>G | gnomAD v4 |
| X | g.120447980A>G | CA10577160 | LAMP2 | c.602T>C (p.Ile201Thr) c.145T>C | ClinVar dbSNP |
| X | g.120447980A>T | CA414401624 | LAMP2 | c.602T>A (p.Ile201Lys) c.145T>A | |
| X | g.120447981T>A | CA414401626 | LAMP2 | c.601A>T (p.Ile201Leu) c.144A>T | |
| X | g.120447981T>C | CA414401631 | LAMP2 | c.601A>G (p.Ile201Val) c.144A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447981T>G | CA414401629 | LAMP2 | c.601A>C (p.Ile201Leu) c.144A>C | |
| X | g.120447981T= | CA2454872843 | LAMP2 | c.601A= (p.Ile201=) c.144A= | |
| X | g.120447982G>A | CA518401871 | LAMP2 | c.600C>T (p.Thr200=) c.143C>T | ClinVar dbSNP gnomAD v4 |
| X | g.120447982G>C | CA518401872 | LAMP2 | c.600C>G (p.Thr200=) c.143C>G | |
| X | g.120447982G>T | CA518401873 | LAMP2 | c.600C>A (p.Thr200=) c.143C>A | |
| X | g.120447983G>A | CA414401632 | LAMP2 | c.599C>T (p.Thr200Ile) c.142C>T | |
| X | g.120447983G>C | CA414401636 | LAMP2 | c.599C>G (p.Thr200Ser) c.142C>G | |
| X | g.120447983G>T | CA414401638 | LAMP2 | c.599C>A (p.Thr200Asn) c.142C>A | |
| X | g.120447984T>A | CA414401640 | LAMP2 | c.598A>T (p.Thr200Ser) c.141A>T | |
| X | g.120447984T>C | CA414401641 | LAMP2 | c.598A>G (p.Thr200Ala) c.141A>G | |
| X | g.120447984T>G | CA414401643 | LAMP2 | c.598A>C (p.Thr200Pro) c.141A>C | |
| X | g.120447985G>A | CA518401874 | LAMP2 | c.597C>T (p.Pro199=) c.140C>T | |
| X | g.120447985G>C | CA518401875 | LAMP2 | c.597C>G (p.Pro199=) c.140C>G | |
| X | g.120447985G>T | CA518401876 | LAMP2 | c.597C>A (p.Pro199=) c.140C>A | |
| X | g.120447986G>A | CA414401646 | LAMP2 | c.596C>T (p.Pro199Leu) c.139C>T | |
| X | g.120447986G>C | CA414401645 | LAMP2 | c.596C>G (p.Pro199Arg) c.139C>G | |
| X | g.120447986G>T | CA414401644 | LAMP2 | c.596C>A (p.Pro199His) c.139C>A | |
| X | g.120447987G>A | CA414401647 | LAMP2 | c.595C>T (p.Pro199Ser) c.138C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.120447987G>C | CA414401648 | LAMP2 | c.595C>G (p.Pro199Ala) c.138C>G | |
| X | g.120447987G= | CA2454872844 | LAMP2 | c.595C= (p.Pro199=) c.138C= | |
| X | g.120447987G>T | CA414401649 | LAMP2 | c.595C>A (p.Pro199Thr) c.138C>A | gnomAD v4 |
| X | g.120447988T>A | CA518401877 | LAMP2 | c.594A>T (p.Ala198=) c.137A>T | |
| X | g.120447988T>C | CA518401878 | LAMP2 | c.594A>G (p.Ala198=) c.137A>G | |
| X | g.120447988T>G | CA518401879 | LAMP2 | c.594A>C (p.Ala198=) c.137A>C | |
| X | g.120447989G>A | CA414401650 | LAMP2 | c.593C>T (p.Ala198Val) c.136C>T | |
| X | g.120447989G>C | CA414401651 | LAMP2 | c.593C>G (p.Ala198Gly) c.136C>G | |
| X | g.120447989G>T | CA414401652 | LAMP2 | c.593C>A (p.Ala198Glu) c.136C>A | |
| X | g.120447990C>A | CA414401653 | LAMP2 | c.592G>T (p.Ala198Ser) c.135G>T | |
| X | g.120447990C>G | CA414401658 | LAMP2 | c.592G>C (p.Ala198Pro) c.135G>C | |
| X | g.120447990C>T | CA414401656 | LAMP2 | c.592G>A (p.Ala198Thr) c.135G>A | gnomAD v4 |
| X | g.120447991C>A | CA518401880 | LAMP2 | c.591G>T (p.Val197=) c.134G>T | |
| X | g.120447991C= | CA2454872845 | LAMP2 | c.591G= (p.Val197=) c.134G= | |
| X | g.120447991C>G | CA518401881 | LAMP2 | c.591G>C (p.Val197=) c.134G>C | |
| X | g.120447991C>T | CA134154 | LAMP2 | c.591G>A (p.Val197=) c.134G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120447991_120447998delinsT | CA2695235720 | LAMP2 | c.584_591delinsA (p.Ser195Ter) c.127_134delinsA | |
| X | g.120447992A>C | CA414401660 | LAMP2 | c.590T>G (p.Val197Gly) c.133T>G | |
| X | g.120447992A>G | CA414401661 | LAMP2 | c.590T>C (p.Val197Ala) c.133T>C | |
| X | g.120447992A>T | CA414401663 | LAMP2 | c.590T>A (p.Val197Glu) c.133T>A | |
| X | g.120447993C>A | CA414401665 | LAMP2 | c.589G>T (p.Val197Leu) c.132G>T | |
| X | g.120447993C= | CA2454872846 | LAMP2 | c.589G= (p.Val197=) c.132G= | |
| X | g.120447993C>G | CA414401666 | LAMP2 | c.589G>C (p.Val197Leu) c.132G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447993C>T | CA414401667 | LAMP2 | c.589G>A (p.Val197Met) c.132G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120447994T>A | CA518401882 | LAMP2 | c.588A>T (p.Thr196=) c.131A>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447994T>C | CA518401883 | LAMP2 | c.588A>G (p.Thr196=) c.131A>G | |
| X | g.120447994T>G | CA518401884 | LAMP2 | c.588A>C (p.Thr196=) c.131A>C | |
| X | g.120447994T= | CA2454872847 | LAMP2 | c.588A= (p.Thr196=) c.131A= | |
| X | g.120447994_120447998dup | CA333709 | LAMP2 | c.584_588dup (p.Val197GlnfsTer?) c.127_131dup | ClinVar dbSNP |
| X | g.120447995G>A | CA414401672 | LAMP2 | c.587C>T (p.Thr196Ile) c.130C>T | |
| X | g.120447995G>C | CA414401674 | LAMP2 | c.587C>G (p.Thr196Arg) c.130C>G | |
| X | g.120447995G>T | CA414401675 | LAMP2 | c.587C>A (p.Thr196Lys) c.130C>A | |
| X | g.120447995_120448003delinsGTTGAAGTT | CA2454872848 | LAMP2 | c.579_587delinsAACTTCAAC (p.Lys193=) c.122_130delinsAACTTCAAC | |
| X | g.120447996T>A | CA134147 | LAMP2 | c.586A>T (p.Thr196Ser) c.129A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120447996T>C | CA10505279 | LAMP2 | c.586A>G (p.Thr196Ala) c.129A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120447996T>G | CA414401678 | LAMP2 | c.586A>C (p.Thr196Pro) c.129A>C | |
| X | g.120447996T= | CA2454872849 | LAMP2 | c.586A= (p.Thr196=) c.129A= | |
| X | g.120447999_120448006del | CA221940 | LAMP2 | c.579_586del (p.Lys193AsnfsTer?) c.122_129del | ClinVar dbSNP |
| X | g.120447997T>A | CA518401887 | LAMP2 | c.585A>T (p.Ser195=) c.128A>T | |
| X | g.120447997T>C | CA518401885 | LAMP2 | c.585A>G (p.Ser195=) c.128A>G | |
| X | g.120447997T>G | CA518401886 | LAMP2 | c.585A>C (p.Ser195=) c.128A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120447997T= | CA2454872850 | LAMP2 | c.585A= (p.Ser195=) c.128A= | |
| X | g.120447998G>A | CA414401680 | LAMP2 | c.584C>T (p.Ser195Leu) c.127C>T | dbSNP |
| X | g.120447998G>C | CA414401682 | LAMP2 | c.584C>G (p.Ser195Ter) c.127C>G | |
| X | g.120447998G= | CA2454872851 | LAMP2 | c.584C= (p.Ser195=) c.127C= | |
| X | g.120447998G>T | CA414401683 | LAMP2 | c.584C>A (p.Ser195Ter) c.127C>A | |
| X | g.120447998_120447999insCG | CA1139532822 | LAMP2 | c.584_585insGC (p.Thr196GlnfsTer?) c.127_128insGC | ClinVar |
| X | g.120447999A>C | CA414401685 | LAMP2 | c.583T>G (p.Ser195Ala) c.126T>G | |
| X | g.120447999A>G | CA414401686 | LAMP2 | c.583T>C (p.Ser195Pro) c.126T>C | |
| X | g.120447999A>T | CA414401688 | LAMP2 | c.583T>A (p.Ser195Thr) c.126T>A |