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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120447995_120448003delinsGTTGAAGTT | CA2454872848 | LAMP2 | c.579_587delinsAACTTCAAC (p.Lys193=) c.122_130delinsAACTTCAAC | |
| X | g.120447999_120448006del | CA221940 | LAMP2 | c.579_586del (p.Lys193AsnfsTer?) c.122_129del | ClinVar dbSNP |
| 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 | |
| X | g.120448000dup | CA2840218310 | LAMP2 | c.583dup (p.Ser195PhefsTer?) c.126dup | |
| X | g.120448000A= | CA2454872852 | LAMP2 | c.582T= (p.Thr194=) c.125T= | |
| X | g.120448000A>C | CA518401888 | LAMP2 | c.582T>G (p.Thr194=) c.125T>G | |
| X | g.120448000A>G | CA518401889 | LAMP2 | c.582T>C (p.Thr194=) c.125T>C | ClinVar dbSNP gnomAD v4 |
| X | g.120448000A>T | CA518401890 | LAMP2 | c.582T>A (p.Thr194=) c.125T>A | |
| X | g.120448001G>A | CA414401689 | LAMP2 | c.581C>T (p.Thr194Ile) c.124C>T | ClinVar |
| X | g.120448001G>C | CA414401690 | LAMP2 | c.581C>G (p.Thr194Ser) c.124C>G | ClinVar |
| X | g.120448001G= | CA2454872853 | LAMP2 | c.581C= (p.Thr194=) c.124C= | |
| X | g.120448001G>T | CA335013522 | LAMP2 | c.581C>A (p.Thr194Asn) c.124C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448002T>A | CA414401693 | LAMP2 | c.580A>T (p.Thr194Ser) c.123A>T | |
| X | g.120448002T>C | CA414401694 | LAMP2 | c.580A>G (p.Thr194Ala) c.123A>G | |
| X | g.120448002T>G | CA414401696 | LAMP2 | c.580A>C (p.Thr194Pro) c.123A>C | |
| X | g.120448005dup | CA2695235721 | LAMP2 | c.580dup (p.Thr194AsnfsTer?) c.123dup | |
| X | g.120448004_120448005del | CA2739290557 | LAMP2 | c.579_580del (p.Lys193AsnfsTer?) c.122_123del | |
| X | g.120448003T>A | CA414401697 | LAMP2 | c.579A>T (p.Lys193Asn) c.122A>T | |
| X | g.120448003T>C | CA518401891 | LAMP2 | c.579A>G (p.Lys193=) c.122A>G | ClinVar |
| X | g.120448003T>G | CA414401699 | LAMP2 | c.579A>C (p.Lys193Asn) c.122A>C | |
| X | g.120448004T>A | CA414401701 | LAMP2 | c.578A>T (p.Lys193Ile) c.121A>T | |
| X | g.120448004T>C | CA414401702 | LAMP2 | c.578A>G (p.Lys193Arg) c.121A>G | |
| X | g.120448004T>G | CA414401704 | LAMP2 | c.578A>C (p.Lys193Thr) c.121A>C | |
| X | g.120448005T>A | CA414401705 | LAMP2 | c.577A>T (p.Lys193Ter) c.120A>T | |
| X | g.120448005T>C | CA414401707 | LAMP2 | c.577A>G (p.Lys193Glu) c.120A>G | |
| X | g.120448005T>G | CA414401708 | LAMP2 | c.577A>C (p.Lys193Gln) c.120A>C | |
| X | g.120448006G>A | CA518401892 | LAMP2 | c.576C>T (p.Asp192=) c.119C>T | ClinVar dbSNP gnomAD v4 |
| X | g.120448006G>C | CA414401710 | LAMP2 | c.576C>G (p.Asp192Glu) c.119C>G | |
| X | g.120448006G= | CA2454872854 | LAMP2 | c.576C= (p.Asp192=) c.119C= | |
| X | g.120448006G>T | CA414401711 | LAMP2 | c.576C>A (p.Asp192Glu) c.119C>A | |
| X | g.120448007T>A | CA414401713 | LAMP2 | c.575A>T (p.Asp192Val) c.118A>T | |
| X | g.120448007T>C | CA414401714 | LAMP2 | c.575A>G (p.Asp192Gly) c.118A>G | gnomAD v4 |
| X | g.120448007T>G | CA414401716 | LAMP2 | c.575A>C (p.Asp192Ala) c.118A>C | |
| X | g.120448008C>A | CA414401721 | LAMP2 | c.574G>T (p.Asp192Tyr) c.117G>T | |
| X | g.120448008C>G | CA414401719 | LAMP2 | c.574G>C (p.Asp192His) c.117G>C | |
| X | g.120448008C>T | CA414401718 | LAMP2 | c.574G>A (p.Asp192Asn) c.117G>A | |
| X | g.120448008_120448009delinsCT | CA2454872855 | LAMP2 | c.573_574delinsAG (p.Lys191=) c.116_117delinsAG | |
| X | g.120448009T>A | CA414401722 | LAMP2 | c.573A>T (p.Lys191Asn) c.116A>T | |
| X | g.120448009T>C | CA518401894 | LAMP2 | c.573A>G (p.Lys191=) c.116A>G | |
| X | g.120448009T>G | CA414401723 | LAMP2 | c.573A>C (p.Lys191Asn) c.116A>C | |
| X | g.120448011del | CA870732068 | LAMP2 | c.573del (p.Asp192ThrfsTer?) c.116del | dbSNP |
| X | g.120448010T>A | CA10505280 | LAMP2 | c.572A>T (p.Lys191Ile) c.115A>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.120448010T>C | CA414401725 | LAMP2 | c.572A>G (p.Lys191Arg) c.115A>G | |
| X | g.120448010T>G | CA414401727 | LAMP2 | c.572A>C (p.Lys191Thr) c.115A>C | |
| X | g.120448010T= | CA2454872856 | LAMP2 | c.572A= (p.Lys191=) c.115A= | |
| X | g.120448011T>A | CA414401728 | LAMP2 | c.571A>T (p.Lys191Ter) c.114A>T | |
| X | g.120448011T>C | CA414401730 | LAMP2 | c.571A>G (p.Lys191Glu) c.114A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120448011T>G | CA414401731 | LAMP2 | c.571A>C (p.Lys191Gln) c.114A>C | |
| X | g.120448011T= | CA2454872857 | LAMP2 | c.571A= (p.Lys191=) c.114A= | |
| X | g.120448012A>C | CA414401733 | LAMP2 | c.570T>G (p.Asp190Glu) c.113T>G | |
| X | g.120448012A>G | CA518401895 | LAMP2 | c.570T>C (p.Asp190=) c.113T>C | |
| X | g.120448012A>T | CA414401734 | LAMP2 | c.570T>A (p.Asp190Glu) c.113T>A | |
| X | g.120448013T>A | CA414401736 | LAMP2 | c.569A>T (p.Asp190Val) c.112A>T | |
| X | g.120448013T>C | CA414401737 | LAMP2 | c.569A>G (p.Asp190Gly) c.112A>G | |
| X | g.120448013T>G | CA414401738 | LAMP2 | c.569A>C (p.Asp190Ala) c.112A>C | |
| X | g.120448014C>A | CA414401743 | LAMP2 | c.568G>T (p.Asp190Tyr) c.111G>T | |
| X | g.120448014C>G | CA414401742 | LAMP2 | c.568G>C (p.Asp190His) c.111G>C | |
| X | g.120448014C>T | CA414401740 | LAMP2 | c.568G>A (p.Asp190Asn) c.111G>A | |
| X | g.120448015A>C | CA414401745 | LAMP2 | c.567T>G (p.Cys189Trp) c.110T>G | |
| X | g.120448015A>G | CA518401896 | LAMP2 | c.567T>C (p.Cys189=) c.110T>C | |
| X | g.120448015A>T | CA414401747 | LAMP2 | c.567T>A (p.Cys189Ter) c.110T>A | |
| X | g.120448016C>A | CA414401749 | LAMP2 | c.566G>T (p.Cys189Phe) c.109G>T | |
| X | g.120448016C= | CA2454872858 | LAMP2 | c.566G= (p.Cys189=) c.109G= | |
| X | g.120448016C>G | CA414401750 | LAMP2 | c.566G>C (p.Cys189Ser) c.109G>C | |
| X | g.120448016C>T | CA10505281 | LAMP2 | c.566G>A (p.Cys189Tyr) c.109G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120448017del | CA2580100297 | LAMP2 | c.565del (p.Cys189ValfsTer?) c.108del | ClinVar |
| X | g.120448017A>C | CA414401755 | LAMP2 | c.565T>G (p.Cys189Gly) c.108T>G | |
| X | g.120448017A>G | CA414401756 | LAMP2 | c.565T>C (p.Cys189Arg) c.108T>C | |
| X | g.120448017A>T | CA414401758 | LAMP2 | c.565T>A (p.Cys189Ser) c.108T>A | |
| X | g.120448018C>A | CA518401899 | LAMP2 | c.564G>T (p.Leu188=) c.107G>T | |
| X | g.120448018C>G | CA518401898 | LAMP2 | c.564G>C (p.Leu188=) c.107G>C | |
| X | g.120448018C>T | CA518401897 | LAMP2 | c.564G>A (p.Leu188=) c.107G>A | |
| X | g.120448019A= | CA2454872859 | LAMP2 | c.563T= (p.Leu188=) c.106T= | |
| X | g.120448019A>C | CA414401760 | LAMP2 | c.563T>G (p.Leu188Arg) c.106T>G | |
| X | g.120448019A>G | CA414401761 | LAMP2 | c.563T>C (p.Leu188Pro) c.106T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448019A>T | CA414401763 | LAMP2 | c.563T>A (p.Leu188Gln) c.106T>A | |
| X | g.120448020G>A | CA518401900 | LAMP2 | c.562C>T (p.Leu188=) c.105C>T | ClinVar |
| X | g.120448020G>C | CA414401765 | LAMP2 | c.562C>G (p.Leu188Val) c.105C>G | |
| X | g.120448020G>T | CA414401766 | LAMP2 | c.562C>A (p.Leu188Met) c.105C>A | |
| X | g.120448021G>A | CA518401901 | LAMP2 | c.561C>T (p.Phe187=) c.104C>T | |
| X | g.120448021G>C | CA414401769 | LAMP2 | c.561C>G (p.Phe187Leu) c.104C>G | gnomAD v4 |
| X | g.120448021G>T | CA414401768 | LAMP2 | c.561C>A (p.Phe187Leu) c.104C>A | COSMIC COSMIC COSMIC |
| X | g.120448022A= | CA2454872860 | LAMP2 | c.560T= (p.Phe187=) c.103T= | |
| X | g.120448022A>C | CA414401770 | LAMP2 | c.560T>G (p.Phe187Cys) c.103T>G | |
| X | g.120448022A>G | CA414401771 | LAMP2 | c.560T>C (p.Phe187Ser) c.103T>C | gnomAD v4 |
| X | g.120448022A>T | CA414401773 | LAMP2 | c.560T>A (p.Phe187Tyr) c.103T>A | |
| X | g.120448022_120448023insT | CA10505282 | LAMP2 | c.559_560insA (p.Phe187TyrfsTer4) c.102_103insA | dbSNP ExAC |
| X | g.120448023A= | CA2454872861 | LAMP2 | c.559T= (p.Phe187=) c.102T= | |
| X | g.120448023A>C | CA414401775 | LAMP2 | c.559T>G (p.Phe187Val) c.102T>G | |
| X | g.120448023A>G | CA414401776 | LAMP2 | c.559T>C (p.Phe187Leu) c.102T>C | |
| X | g.120448023A>T | CA414401777 | LAMP2 | c.559T>A (p.Phe187Ile) c.102T>A | |
| X | g.120448023_120448024insAGGTATAGGTGT | CA10505283 | LAMP2 | c.558_559insACACCTATACCT (p.Glu186_Phe187insThrProIlePro) c.101_102insACACCTATACCT | dbSNP ExAC |
| X | g.120448024C>A | CA414401778 | LAMP2 | c.558G>T (p.Glu186Asp) c.101G>T | |
| X | g.120448024C>G | CA414401779 | LAMP2 | c.558G>C (p.Glu186Asp) c.101G>C | |
| X | g.120448024C>T | CA518401903 | LAMP2 | c.558G>A (p.Glu186=) c.101G>A | |
| X | g.120448025T>A | CA414401782 | LAMP2 | c.557A>T (p.Glu186Val) c.100A>T | |
| X | g.120448025T>C | CA414401783 | LAMP2 | c.557A>G (p.Glu186Gly) c.100A>G | |
| X | g.120448025T>G | CA414401785 | LAMP2 | c.557A>C (p.Glu186Ala) c.100A>C | |
| X | g.120448026C>A | CA414401788 | LAMP2 | c.557-1G>T (n.557-1G>T) c.100-1G>T | COSMIC COSMIC COSMIC |
| X | g.120448026C>G | CA414401790 | LAMP2 | c.557-1G>C (n.557-1G>C) c.100-1G>C | |
| X | g.120448026C>T | CA414401786 | LAMP2 | c.557-1G>A (n.557-1G>A) c.100-1G>A | |
| X | g.120448027T>A | CA414401792 | LAMP2 | c.557-2A>T (n.557-2A>T) c.100-2A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448027T>C | CA414401794 | LAMP2 | c.557-2A>G (n.557-2A>G) c.100-2A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448027T>G | CA414401799 | LAMP2 | c.557-2A>C (n.557-2A>C) c.100-2A>C | |
| X | g.120448027T= | CA2454872862 | LAMP2 | c.557-2A= (n.557-2A=) c.100-2A= | |
| X | g.120448031del | CA2579692176 | LAMP2 | c.557-3del (n.557-3del) c.100-3del | |
| X | g.120448032C= | CA2454872863 | LAMP2 | c.557-7G= (n.557-7G=) c.100-7G= | |
| X | g.120448032C>T | CA1136815570 | LAMP2 | c.557-7G>A (n.557-7G>A) c.100-7G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448035G>C | CA2579692177 | LAMP2 | c.557-10C>G (n.557-10C>G) c.100-10C>G | ClinVar gnomAD v4 |
| X | g.120448036C= | CA2454872864 | LAMP2 | c.557-11G= (n.557-11G=) c.100-11G= | |
| X | g.120448036C>G | CA2454872865 | LAMP2 | c.557-11G>C (n.557-11G>C) c.100-11G>C | dbSNP gnomAD v4 |
| X | g.120448036C>T | CA870733692 | LAMP2 | c.557-11G>A (n.557-11G>A) c.100-11G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448037G>A | CA10505284 | LAMP2 | c.557-12C>T (n.557-12C>T) c.100-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448037G>C | CA2694598198 | LAMP2 | c.557-12C>G (n.557-12C>G) c.100-12C>G | gnomAD v4 |
| X | g.120448037G= | CA2454872866 | LAMP2 | c.557-12C= (n.557-12C=) c.100-12C= | |
| X | g.120448041A= | CA2454872867 | LAMP2 | c.557-16T= (n.557-16T=) c.100-16T= | |
| X | g.120448041A>C | CA335013523 | LAMP2 | c.557-16T>G (n.557-16T>G) c.100-16T>G | dbSNP gnomAD v4 |
| X | g.120448041A>G | CA2694598199 | LAMP2 | c.557-16T>C (n.557-16T>C) c.100-16T>C | gnomAD v4 |
| X | g.120448042G>A | CA658469949 | LAMP2 | c.557-17C>T (n.557-17C>T) c.100-17C>T | COSMIC |
| X | g.120448042G>C | CA2694598200 | LAMP2 | c.557-17C>G (n.557-17C>G) c.100-17C>G | gnomAD v4 |
| X | g.120448043G>A | CA644131181 | LAMP2 | c.557-18C>T (n.557-18C>T) c.100-18C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448043G= | CA2454872868 | LAMP2 | c.557-18C= (n.557-18C=) c.100-18C= | |
| X | g.120448044G>A | CA2694598201 | LAMP2 | c.557-19C>T (n.557-19C>T) c.100-19C>T | gnomAD v4 |
| X | g.120448045A>T | CA2573159186 | LAMP2 | c.557-20T>A (n.557-20T>A) c.100-20T>A | ClinVar dbSNP |
| X | g.120448046C>A | CA2548770973 | LAMP2 | c.557-21G>T (n.557-21G>T) c.100-21G>T | |
| X | g.120448046C= | CA2454872869 | LAMP2 | c.557-21G= (n.557-21G=) c.100-21G= | |
| X | g.120448046C>G | CA10505285 | LAMP2 | c.557-21G>C (n.557-21G>C) c.100-21G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120448047A= | CA2454872870 | LAMP2 | c.557-22T= (n.557-22T=) c.100-22T= | |
| X | g.120448047A>G | CA870733699 | LAMP2 | c.557-22T>C (n.557-22T>C) c.100-22T>C | dbSNP |
| X | g.120448054A>T | CA2579692178 | LAMP2 | c.557-29T>A (n.557-29T>A) c.100-29T>A | |
| X | g.120448055C>T | CA2557060355 | LAMP2 | c.557-30G>A (n.557-30G>A) c.100-30G>A | |
| X | g.120448056C= | CA2454872871 | LAMP2 | c.557-31G= (n.557-31G=) c.100-31G= | |
| X | g.120448056C>T | CA10505286 | LAMP2 | c.557-31G>A (n.557-31G>A) c.100-31G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120448061C= | CA2454872872 | LAMP2 | c.557-36G= (n.557-36G=) c.100-36G= | |
| X | g.120448061C>T | CA10505287 | LAMP2 | c.557-36G>A (n.557-36G>A) c.100-36G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448062G>A | CA10505288 | LAMP2 | c.557-37C>T (n.557-37C>T) c.100-37C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448062G= | CA2454872873 | LAMP2 | c.557-37C= (n.557-37C=) c.100-37C= | |
| X | g.120448062G>T | CA2694598202 | LAMP2 | c.557-37C>A (n.557-37C>A) c.100-37C>A | gnomAD v4 |
| X | g.120448063G>A | CA2579692179 | LAMP2 | c.557-38C>T (n.557-38C>T) c.100-38C>T | |
| X | g.120448063G>C | CA2526406341 | LAMP2 | c.557-38C>G (n.557-38C>G) c.100-38C>G | |
| X | g.120448065C>T | CA2694598203 | LAMP2 | c.557-40G>A (n.557-40G>A) c.100-40G>A | gnomAD v4 |
| X | g.120448067T>C | CA2840218311 | LAMP2 | c.557-42A>G (n.557-42A>G) c.100-42A>G | |
| X | g.120448067T>G | CA2823249995 | LAMP2 | c.557-42A>C (n.557-42A>C) c.100-42A>C | |
| X | g.120448071C>A | CA2823249996 | LAMP2 | c.557-46G>T (n.557-46G>T) c.100-46G>T | |
| X | g.120448071C= | CA2454872874 | LAMP2 | c.557-46G= (n.557-46G=) c.100-46G= | |
| X | g.120448071_120448072insAG | CA10505289 | LAMP2 | c.557-47_557-46insCT (n.557-47_557-46insCT) c.100-47_100-46insCT | dbSNP ExAC gnomAD v2 |
| X | g.120448074_120448078delinsAATTC | CA2454872875 | LAMP2 | c.557-53_557-49delinsGAATT (n.557-53_557-49delinsGAATT) c.100-53_100-49delinsGAATT | |
| X | g.120448077_120448080del | CA10505290 | LAMP2 | c.557-53_557-50del (n.557-53_557-50del) c.100-53_100-50del | dbSNP ExAC gnomAD v2 |
| X | g.120448079A= | CA2454872876 | LAMP2 | c.557-54T= (n.557-54T=) c.100-54T= | |
| X | g.120448079A>C | CA335013524 | LAMP2 | c.557-54T>G (n.557-54T>G) c.100-54T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448080T>C | CA2694598204 | LAMP2 | c.557-55A>G (n.557-55A>G) c.100-55A>G | gnomAD v4 |
| X | g.120448082del | CA2694598205 | LAMP2 | c.557-56del (n.557-56del) c.100-56del | gnomAD v4 |
| X | g.120448084G>C | CA2694598206 | LAMP2 | c.557-59C>G (n.557-59C>G) c.100-59C>G | gnomAD v4 |
| X | g.120448084G>T | CA2694598207 | LAMP2 | c.557-59C>A (n.557-59C>A) c.100-59C>A | gnomAD v4 |
| X | g.120448085C>A | CA2694598209 | LAMP2 | c.557-60G>T (n.557-60G>T) c.100-60G>T | gnomAD v4 |
| X | g.120448086del | CA2694598208 | LAMP2 | c.557-60del (n.557-60del) c.100-60del | gnomAD v4 |
| X | g.120448086C>A | CA2694598210 | LAMP2 | c.557-61G>T (n.557-61G>T) c.100-61G>T | gnomAD v4 |
| X | g.120448088G>A | CA2694598211 | LAMP2 | c.557-63C>T (n.557-63C>T) c.100-63C>T | gnomAD v4 |
| X | g.120448088G>C | CA2694598213 | LAMP2 | c.557-63C>G (n.557-63C>G) c.100-63C>G | gnomAD v4 |
| X | g.120448088G>T | CA2694598212 | LAMP2 | c.557-63C>A (n.557-63C>A) c.100-63C>A | gnomAD v4 |
| X | g.120448089G>A | CA870733716 | LAMP2 | c.557-64C>T (n.557-64C>T) c.100-64C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448089G= | CA2454872877 | LAMP2 | c.557-64C= (n.557-64C=) c.100-64C= | |
| X | g.120448090G>A | CA644131182 | LAMP2 | c.557-65C>T (n.557-65C>T) c.100-65C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448090G>C | CA2823250001 | LAMP2 | c.557-65C>G (n.557-65C>G) c.100-65C>G | |
| X | g.120448090G= | CA2454872878 | LAMP2 | c.557-65C= (n.557-65C=) c.100-65C= | |
| X | g.120448090G>T | CA2694598214 | LAMP2 | c.557-65C>A (n.557-65C>A) c.100-65C>A | gnomAD v4 |
| X | g.120448091A>C | CA2823250003 | LAMP2 | c.557-66T>G (n.557-66T>G) c.100-66T>G | |
| X | g.120448094del | CA2694598215 | LAMP2 | c.557-66del (n.557-66del) c.100-66del | gnomAD v4 |
| X | g.120448093A>G | CA2840057251 | LAMP2 | c.557-68T>C (n.557-68T>C) c.100-68T>C | |
| X | g.120448095C>A | CA2694598217 | LAMP2 | c.557-70G>T (n.557-70G>T) c.100-70G>T | gnomAD v4 |
| X | g.120448095_120448096del | CA2694598216 | LAMP2 | c.557-71_557-70del (n.557-71_557-70del) c.100-71_100-70del | gnomAD v4 |
| X | g.120448096del | CA2579692180 | LAMP2 | c.557-70del (n.557-70del) c.100-70del | gnomAD v4 |
| X | g.120448095_120448096insA | CA2823250009 | LAMP2 | c.557-71_557-70insT (n.557-71_557-70insT) c.100-71_100-70insT | |
| X | g.120448096C>A | CA335013525 | LAMP2 | c.557-71G>T (n.557-71G>T) c.100-71G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120448096C= | CA2454872879 | LAMP2 | c.557-71G= (n.557-71G=) c.100-71G= | |
| X | g.120448096_120448097delinsCA | CA2454872880 | LAMP2 | c.557-72_557-71delinsTG (n.557-72_557-71delinsTG) c.100-72_100-71delinsTG | |
| X | g.120448104dup | CA1139600409 | LAMP2 | c.557-72dup (n.557-72dup) c.100-72dup | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448104del | CA1136815582 | LAMP2 | c.557-72del (n.557-72del) c.100-72del | dbSNP gnomAD v3 gnomAD v4 |