Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.2922047C>ACA401696399LPIN2c.2327G>T (p.Arg776Ile)
c.1022G>T (p.Arg341Ile)
c.2438G>T (p.Arg813Ile)
18g.2922047C>GCA401696403LPIN2c.2327G>C (p.Arg776Thr)
c.1022G>C (p.Arg341Thr)
c.2438G>C (p.Arg813Thr)
18g.2922047C>TCA401696406LPIN2c.2327G>A (p.Arg776Lys)
c.1022G>A (p.Arg341Lys)
c.2438G>A (p.Arg813Lys)
18g.2922048T>ACA401696409LPIN2c.2326A>T (p.Arg776Ter)
c.1021A>T (p.Arg341Ter)
c.2437A>T (p.Arg813Ter)
18g.2922048T>CCA401696412LPIN2c.2326A>G (p.Arg776Gly)
c.1021A>G (p.Arg341Gly)
c.2437A>G (p.Arg813Gly)
18g.2922048T>GCA502679709LPIN2c.2326A>C (p.Arg776=)
c.1021A>C (p.Arg341=)
c.2437A>C (p.Arg813=)
18g.2922049G>ACA8872777LPIN2c.2325C>T (p.His775=)
c.1020C>T (p.His340=)
c.2436C>T (p.His812=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922049G>CCA401696418LPIN2c.2325C>G (p.His775Gln)
c.1020C>G (p.His340Gln)
c.2436C>G (p.His812Gln)
18g.2922049G=CA2280788043LPIN2c.2325C= (p.His775=)
c.1020C= (p.His340=)
c.2436C= (p.His812=)
18g.2922049G>TCA401696421LPIN2c.2325C>A (p.His775Gln)
c.1020C>A (p.His340Gln)
c.2436C>A (p.His812Gln)
18g.2922050T>ACA401696425LPIN2c.2324A>T (p.His775Leu)
c.1019A>T (p.His340Leu)
c.2435A>T (p.His812Leu)
18g.2922050T>CCA401696428LPIN2c.2324A>G (p.His775Arg)
c.1019A>G (p.His340Arg)
c.2435A>G (p.His812Arg)
 dbSNP
18g.2922050T>GCA401696431LPIN2c.2324A>C (p.His775Pro)
c.1019A>C (p.His340Pro)
c.2435A>C (p.His812Pro)
18g.2922051G>ACA401696442LPIN2c.2323C>T (p.His775Tyr)
c.1018C>T (p.His340Tyr)
c.2434C>T (p.His812Tyr)
18g.2922051G>CCA401696438LPIN2c.2323C>G (p.His775Asp)
c.1018C>G (p.His340Asp)
c.2434C>G (p.His812Asp)
18g.2922051G>TCA401696433LPIN2c.2323C>A (p.His775Asn)
c.1018C>A (p.His340Asn)
c.2434C>A (p.His812Asn)
18g.2922052G>ACA502679725LPIN2c.2322C>T (p.Phe774=)
c.1017C>T (p.Phe339=)
c.2433C>T (p.Phe811=)
18g.2922052G>CCA401696445LPIN2c.2322C>G (p.Phe774Leu)
c.1017C>G (p.Phe339Leu)
c.2433C>G (p.Phe811Leu)
18g.2922052G>TCA401696446LPIN2c.2322C>A (p.Phe774Leu)
c.1017C>A (p.Phe339Leu)
c.2433C>A (p.Phe811Leu)
18g.2922053A>CCA401696447LPIN2c.2321T>G (p.Phe774Cys)
c.1016T>G (p.Phe339Cys)
c.2432T>G (p.Phe811Cys)
18g.2922053A>GCA401696448LPIN2c.2321T>C (p.Phe774Ser)
c.1016T>C (p.Phe339Ser)
c.2432T>C (p.Phe811Ser)
18g.2922053A>TCA401696449LPIN2c.2321T>A (p.Phe774Tyr)
c.1016T>A (p.Phe339Tyr)
c.2432T>A (p.Phe811Tyr)
18g.2922054A>CCA401696453LPIN2c.2320T>G (p.Phe774Val)
c.1015T>G (p.Phe339Val)
c.2431T>G (p.Phe811Val)
18g.2922054A>GCA401696461LPIN2c.2320T>C (p.Phe774Leu)
c.1015T>C (p.Phe339Leu)
c.2431T>C (p.Phe811Leu)
18g.2922054A>TCA401696464LPIN2c.2320T>A (p.Phe774Ile)
c.1015T>A (p.Phe339Ile)
c.2431T>A (p.Phe811Ile)
18g.2922055G>ACA502679732LPIN2c.2319C>T (p.Ala773=)
c.1014C>T (p.Ala338=)
c.2430C>T (p.Ala810=)
18g.2922055G>CCA502679733LPIN2c.2319C>G (p.Ala773=)
c.1014C>G (p.Ala338=)
c.2430C>G (p.Ala810=)
18g.2922055G>TCA502679730LPIN2c.2319C>A (p.Ala773=)
c.1014C>A (p.Ala338=)
c.2430C>A (p.Ala810=)
 COSMIC
18g.2922056G>ACA401696472LPIN2c.2318C>T (p.Ala773Val)
c.1013C>T (p.Ala338Val)
c.2429C>T (p.Ala810Val)
18g.2922056G>CCA401696475LPIN2c.2318C>G (p.Ala773Gly)
c.1013C>G (p.Ala338Gly)
c.2429C>G (p.Ala810Gly)
18g.2922056G>TCA401696478LPIN2c.2318C>A (p.Ala773Asp)
c.1013C>A (p.Ala338Asp)
c.2429C>A (p.Ala810Asp)
 gnomAD v4
18g.2922057C>ACA401696483LPIN2c.2317G>T (p.Ala773Ser)
c.1012G>T (p.Ala338Ser)
c.2428G>T (p.Ala810Ser)
18g.2922057C=CA2280788044LPIN2c.2317G= (p.Ala773=)
c.1012G= (p.Ala338=)
c.2428G= (p.Ala810=)
18g.2922057C>GCA8872778LPIN2c.2317G>C (p.Ala773Pro)
c.1012G>C (p.Ala338Pro)
c.2428G>C (p.Ala810Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922057C>TCA295494444LPIN2c.2317G>A (p.Ala773Thr)
c.1012G>A (p.Ala338Thr)
c.2428G>A (p.Ala810Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.2922058G>ACA291958LPIN2c.2316C>T (p.Ser772=)
c.1011C>T (p.Ser337=)
c.2427C>T (p.Ser809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922058G>CCA502679745LPIN2c.2316C>G (p.Ser772=)
c.1011C>G (p.Ser337=)
c.2427C>G (p.Ser809=)
18g.2922058G=CA2280788045LPIN2c.2316C= (p.Ser772=)
c.1011C= (p.Ser337=)
c.2427C= (p.Ser809=)
18g.2922058G>TCA502679753LPIN2c.2316C>A (p.Ser772=)
c.1011C>A (p.Ser337=)
c.2427C>A (p.Ser809=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.2922059_2922061delCA2640830333LPIN2c.2314_2316del (p.Ser772del)
c.1009_1011del (p.Ser337del)
c.2425_2427del (p.Ser809del)
 gnomAD v4
18g.2922059G>ACA8872779LPIN2c.2315C>T (p.Ser772Phe)
c.1010C>T (p.Ser337Phe)
c.2426C>T (p.Ser809Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.2922059G>CCA401696503LPIN2c.2315C>G (p.Ser772Cys)
c.1010C>G (p.Ser337Cys)
c.2426C>G (p.Ser809Cys)
18g.2922059G=CA2280788046LPIN2c.2315C= (p.Ser772=)
c.1010C= (p.Ser337=)
c.2426C= (p.Ser809=)
18g.2922059G>TCA401696499LPIN2c.2315C>A (p.Ser772Tyr)
c.1010C>A (p.Ser337Tyr)
c.2426C>A (p.Ser809Tyr)
18g.2922060A=CA2280788047LPIN2c.2314T= (p.Ser772=)
c.1009T= (p.Ser337=)
c.2425T= (p.Ser809=)
18g.2922060A>CCA401696544LPIN2c.2314T>G (p.Ser772Ala)
c.1009T>G (p.Ser337Ala)
c.2425T>G (p.Ser809Ala)
18g.2922060A>GCA8872780LPIN2c.2314T>C (p.Ser772Pro)
c.1009T>C (p.Ser337Pro)
c.2425T>C (p.Ser809Pro)
 dbSNP ExAC gnomAD v2
18g.2922060A>TCA401696551LPIN2c.2314T>A (p.Ser772Thr)
c.1009T>A (p.Ser337Thr)
c.2425T>A (p.Ser809Thr)
18g.2922061G>ACA502679761LPIN2c.2313C>T (p.Phe771=)
c.1008C>T (p.Phe336=)
c.2424C>T (p.Phe808=)
 ClinVar
18g.2922061G>CCA401696560LPIN2c.2313C>G (p.Phe771Leu)
c.1008C>G (p.Phe336Leu)
c.2424C>G (p.Phe808Leu)
18g.2922061G>TCA401696567LPIN2c.2313C>A (p.Phe771Leu)
c.1008C>A (p.Phe336Leu)
c.2424C>A (p.Phe808Leu)
18g.2922062A>CCA401696570LPIN2c.2312T>G (p.Phe771Cys)
c.1007T>G (p.Phe336Cys)
c.2423T>G (p.Phe808Cys)
18g.2922062A>GCA401696574LPIN2c.2312T>C (p.Phe771Ser)
c.1007T>C (p.Phe336Ser)
c.2423T>C (p.Phe808Ser)
18g.2922062A>TCA401696577LPIN2c.2312T>A (p.Phe771Tyr)
c.1007T>A (p.Phe336Tyr)
c.2423T>A (p.Phe808Tyr)
18g.2922063dupCA2841320632LPIN2c.2312dup (p.Ser772LeufsTer18)
c.1007dup (p.Ser337LeufsTer18)
c.2423dup (p.Ser809LeufsTer18)
18g.2922063A=CA2280788048LPIN2c.2311T= (p.Phe771=)
c.1006T= (p.Phe336=)
c.2422T= (p.Phe808=)
18g.2922063A>CCA401696578LPIN2c.2311T>G (p.Phe771Val)
c.1006T>G (p.Phe336Val)
c.2422T>G (p.Phe808Val)
18g.2922063A>GCA8872781LPIN2c.2311T>C (p.Phe771Leu)
c.1006T>C (p.Phe336Leu)
c.2422T>C (p.Phe808Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922063A>TCA401696581LPIN2c.2311T>A (p.Phe771Ile)
c.1006T>A (p.Phe336Ile)
c.2422T>A (p.Phe808Ile)
18g.2922064C>ACA401696591LPIN2c.2310G>T (p.Leu770Phe)
c.1005G>T (p.Leu335Phe)
c.2421G>T (p.Leu807Phe)
 gnomAD v4
18g.2922064C>GCA401696587LPIN2c.2310G>C (p.Leu770Phe)
c.1005G>C (p.Leu335Phe)
c.2421G>C (p.Leu807Phe)
18g.2922064C>TCA502679779LPIN2c.2310G>A (p.Leu770=)
c.1005G>A (p.Leu335=)
c.2421G>A (p.Leu807=)
18g.2922065A>CCA401696592LPIN2c.2309T>G (p.Leu770Trp)
c.1004T>G (p.Leu335Trp)
c.2420T>G (p.Leu807Trp)
18g.2922065A>GCA401696595LPIN2c.2309T>C (p.Leu770Ser)
c.1004T>C (p.Leu335Ser)
c.2420T>C (p.Leu807Ser)
18g.2922065A>TCA401696601LPIN2c.2309T>A (p.Leu770Ter)
c.1004T>A (p.Leu335Ter)
c.2420T>A (p.Leu807Ter)
18g.2922066A>CCA401696602LPIN2c.2308T>G (p.Leu770Val)
c.1003T>G (p.Leu335Val)
c.2419T>G (p.Leu807Val)
18g.2922066A>GCA502679785LPIN2c.2308T>C (p.Leu770=)
c.1003T>C (p.Leu335=)
c.2419T>C (p.Leu807=)
18g.2922066A>TCA401696603LPIN2c.2308T>A (p.Leu770Met)
c.1003T>A (p.Leu335Met)
c.2419T>A (p.Leu807Met)
18g.2922067G>ACA502679797LPIN2c.2307C>T (p.Ser769=)
c.1002C>T (p.Ser334=)
c.2418C>T (p.Ser806=)
 dbSNP gnomAD v2 gnomAD v4
18g.2922067G>CCA401696606LPIN2c.2307C>G (p.Ser769Arg)
c.1002C>G (p.Ser334Arg)
c.2418C>G (p.Ser806Arg)
18g.2922067G=CA2280788049LPIN2c.2307C= (p.Ser769=)
c.1002C= (p.Ser334=)
c.2418C= (p.Ser806=)
18g.2922067G>TCA401696617LPIN2c.2307C>A (p.Ser769Arg)
c.1002C>A (p.Ser334Arg)
c.2418C>A (p.Ser806Arg)
18g.2922068C>ACA401696618LPIN2c.2306G>T (p.Ser769Ile)
c.1001G>T (p.Ser334Ile)
c.2417G>T (p.Ser806Ile)
 COSMIC
18g.2922068C>GCA401696619LPIN2c.2306G>C (p.Ser769Thr)
c.1001G>C (p.Ser334Thr)
c.2417G>C (p.Ser806Thr)
18g.2922068C>TCA401696622LPIN2c.2306G>A (p.Ser769Asn)
c.1001G>A (p.Ser334Asn)
c.2417G>A (p.Ser806Asn)
18g.2922069T>ACA401696626LPIN2c.2305A>T (p.Ser769Cys)
c.1000A>T (p.Ser334Cys)
c.2416A>T (p.Ser806Cys)
18g.2922069T>CCA401696628LPIN2c.2305A>G (p.Ser769Gly)
c.1000A>G (p.Ser334Gly)
c.2416A>G (p.Ser806Gly)
 gnomAD v4
18g.2922069T>GCA401696630LPIN2c.2305A>C (p.Ser769Arg)
c.1000A>C (p.Ser334Arg)
c.2416A>C (p.Ser806Arg)
18g.2922070G>ACA502679808LPIN2c.2304C>T (p.Ser768=)
c.999C>T (p.Ser333=)
c.2415C>T (p.Ser805=)
18g.2922070G>CCA401696636LPIN2c.2304C>G (p.Ser768Arg)
c.999C>G (p.Ser333Arg)
c.2415C>G (p.Ser805Arg)
18g.2922070G>TCA401696632LPIN2c.2304C>A (p.Ser768Arg)
c.999C>A (p.Ser333Arg)
c.2415C>A (p.Ser805Arg)
18g.2922071C>ACA401696639LPIN2c.2303G>T (p.Ser768Ile)
c.998G>T (p.Ser333Ile)
c.2414G>T (p.Ser805Ile)
18g.2922071C>GCA401696641LPIN2c.2303G>C (p.Ser768Thr)
c.998G>C (p.Ser333Thr)
c.2414G>C (p.Ser805Thr)
18g.2922071C>TCA401696643LPIN2c.2303G>A (p.Ser768Asn)
c.998G>A (p.Ser333Asn)
c.2414G>A (p.Ser805Asn)
 gnomAD v4
18g.2922072T>ACA401696647LPIN2c.2302A>T (p.Ser768Cys)
c.997A>T (p.Ser333Cys)
c.2413A>T (p.Ser805Cys)
18g.2922072T>CCA401696650LPIN2c.2302A>G (p.Ser768Gly)
c.997A>G (p.Ser333Gly)
c.2413A>G (p.Ser805Gly)
18g.2922072T>GCA401696652LPIN2c.2302A>C (p.Ser768Arg)
c.997A>C (p.Ser333Arg)
c.2413A>C (p.Ser805Arg)
 gnomAD v4
18g.2922073G>ACA8872782LPIN2c.2301C>T (p.Pro767=)
c.996C>T (p.Pro332=)
c.2412C>T (p.Pro804=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922073G>CCA502679826LPIN2c.2301C>G (p.Pro767=)
c.996C>G (p.Pro332=)
c.2412C>G (p.Pro804=)
18g.2922073G=CA2280788050LPIN2c.2301C= (p.Pro767=)
c.996C= (p.Pro332=)
c.2412C= (p.Pro804=)
18g.2922073G>TCA502679824LPIN2c.2301C>A (p.Pro767=)
c.996C>A (p.Pro332=)
c.2412C>A (p.Pro804=)
18g.2922074G>ACA401696656LPIN2c.2300C>T (p.Pro767Leu)
c.995C>T (p.Pro332Leu)
c.2411C>T (p.Pro804Leu)
18g.2922074G>CCA401696658LPIN2c.2300C>G (p.Pro767Arg)
c.995C>G (p.Pro332Arg)
c.2411C>G (p.Pro804Arg)
18g.2922074G=CA2280788051LPIN2c.2300C= (p.Pro767=)
c.995C= (p.Pro332=)
c.2411C= (p.Pro804=)
18g.2922074G>TCA8872783LPIN2c.2300C>A (p.Pro767His)
c.995C>A (p.Pro332His)
c.2411C>A (p.Pro804His)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922075G>ACA401696662LPIN2c.2299C>T (p.Pro767Ser)
c.994C>T (p.Pro332Ser)
c.2410C>T (p.Pro804Ser)
18g.2922075G>CCA8872784LPIN2c.2299C>G (p.Pro767Ala)
c.994C>G (p.Pro332Ala)
c.2410C>G (p.Pro804Ala)
 dbSNP ExAC gnomAD v2
18g.2922075G=CA2280788052LPIN2c.2299C= (p.Pro767=)
c.994C= (p.Pro332=)
c.2410C= (p.Pro804=)
18g.2922075G>TCA401696668LPIN2c.2299C>A (p.Pro767Thr)
c.994C>A (p.Pro332Thr)
c.2410C>A (p.Pro804Thr)
 gnomAD v4
18g.2922076G>ACA502679832LPIN2c.2298C>T (p.Ser766=)
c.993C>T (p.Ser331=)
c.2409C>T (p.Ser803=)
18g.2922076G>CCA502679831LPIN2c.2298C>G (p.Ser766=)
c.993C>G (p.Ser331=)
c.2409C>G (p.Ser803=)
18g.2922076G>TCA502679834LPIN2c.2298C>A (p.Ser766=)
c.993C>A (p.Ser331=)
c.2409C>A (p.Ser803=)
18g.2922077G>ACA401696678LPIN2c.2297C>T (p.Ser766Phe)
c.992C>T (p.Ser331Phe)
c.2408C>T (p.Ser803Phe)
18g.2922077G>CCA401696681LPIN2c.2297C>G (p.Ser766Cys)
c.992C>G (p.Ser331Cys)
c.2408C>G (p.Ser803Cys)
18g.2922077G>TCA401696680LPIN2c.2297C>A (p.Ser766Tyr)
c.992C>A (p.Ser331Tyr)
c.2408C>A (p.Ser803Tyr)
18g.2922078_2922081delCA2640830335LPIN2c.2294_2297del (p.Leu765ProfsTer13)
c.989_992del (p.Leu330ProfsTer13)
c.2405_2408del (p.Leu802ProfsTer13)
 gnomAD v4
18g.2922078A>CCA401696682LPIN2c.2296T>G (p.Ser766Ala)
c.991T>G (p.Ser331Ala)
c.2407T>G (p.Ser803Ala)
18g.2922078A>GCA401696698LPIN2c.2296T>C (p.Ser766Pro)
c.991T>C (p.Ser331Pro)
c.2407T>C (p.Ser803Pro)
18g.2922078A>TCA401696683LPIN2c.2296T>A (p.Ser766Thr)
c.991T>A (p.Ser331Thr)
c.2407T>A (p.Ser803Thr)
18g.2922079C>ACA8872785LPIN2c.2295G>T (p.Leu765=)
c.990G>T (p.Leu330=)
c.2406G>T (p.Leu802=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922079C=CA2280788053LPIN2c.2295G= (p.Leu765=)
c.990G= (p.Leu330=)
c.2406G= (p.Leu802=)
18g.2922079C>GCA502679846LPIN2c.2295G>C (p.Leu765=)
c.990G>C (p.Leu330=)
c.2406G>C (p.Leu802=)
18g.2922079C>TCA502679842LPIN2c.2295G>A (p.Leu765=)
c.990G>A (p.Leu330=)
c.2406G>A (p.Leu802=)
18g.2922080A=CA2280788054LPIN2c.2294T= (p.Leu765=)
c.989T= (p.Leu330=)
c.2405T= (p.Leu802=)
18g.2922080A>CCA401696724LPIN2c.2294T>G (p.Leu765Arg)
c.989T>G (p.Leu330Arg)
c.2405T>G (p.Leu802Arg)
18g.2922080A>GCA401696718LPIN2c.2294T>C (p.Leu765Pro)
c.989T>C (p.Leu330Pro)
c.2405T>C (p.Leu802Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.2922080A>TCA401696721LPIN2c.2294T>A (p.Leu765Gln)
c.989T>A (p.Leu330Gln)
c.2405T>A (p.Leu802Gln)
18g.2922081G>ACA502679855LPIN2c.2293C>T (p.Leu765=)
c.988C>T (p.Leu330=)
c.2404C>T (p.Leu802=)
 gnomAD v4
18g.2922081G>CCA401696731LPIN2c.2293C>G (p.Leu765Val)
c.988C>G (p.Leu330Val)
c.2404C>G (p.Leu802Val)
18g.2922081G>TCA401696734LPIN2c.2293C>A (p.Leu765Met)
c.988C>A (p.Leu330Met)
c.2404C>A (p.Leu802Met)
18g.2922082C>ACA401696738LPIN2c.2292G>T (p.Met764Ile)
c.987G>T (p.Met329Ile)
c.2403G>T (p.Met801Ile)
18g.2922082C>GCA401696742LPIN2c.2292G>C (p.Met764Ile)
c.987G>C (p.Met329Ile)
c.2403G>C (p.Met801Ile)
18g.2922082C>TCA401696757LPIN2c.2292G>A (p.Met764Ile)
c.987G>A (p.Met329Ile)
c.2403G>A (p.Met801Ile)
18g.2922083A=CA2280788055LPIN2c.2291T= (p.Met764=)
c.986T= (p.Met329=)
c.2402T= (p.Met801=)
18g.2922083A>CCA401696775LPIN2c.2291T>G (p.Met764Arg)
c.986T>G (p.Met329Arg)
c.2402T>G (p.Met801Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.2922083A>GCA401696776LPIN2c.2291T>C (p.Met764Thr)
c.986T>C (p.Met329Thr)
c.2402T>C (p.Met801Thr)
18g.2922083A>TCA401696778LPIN2c.2291T>A (p.Met764Lys)
c.986T>A (p.Met329Lys)
c.2402T>A (p.Met801Lys)
18g.2922084T>ACA401696781LPIN2c.2290A>T (p.Met764Leu)
c.985A>T (p.Met329Leu)
c.2401A>T (p.Met801Leu)
 gnomAD v4
18g.2922084T>CCA401696783LPIN2c.2290A>G (p.Met764Val)
c.985A>G (p.Met329Val)
c.2401A>G (p.Met801Val)
18g.2922084T>GCA401696792LPIN2c.2290A>C (p.Met764Leu)
c.985A>C (p.Met329Leu)
c.2401A>C (p.Met801Leu)
18g.2922085C>ACA502679869LPIN2c.2289G>T (p.Leu763=)
c.984G>T (p.Leu328=)
c.2400G>T (p.Leu800=)
18g.2922085C>GCA502679873LPIN2c.2289G>C (p.Leu763=)
c.984G>C (p.Leu328=)
c.2400G>C (p.Leu800=)
18g.2922085C>TCA502679870LPIN2c.2289G>A (p.Leu763=)
c.984G>A (p.Leu328=)
c.2400G>A (p.Leu800=)
18g.2922086delCA2640830336LPIN2c.2288del (p.Leu763ArgfsTer16)
c.983del (p.Leu328ArgfsTer16)
c.2399del (p.Leu800ArgfsTer16)
 gnomAD v4
18g.2922086A>CCA401696808LPIN2c.2288T>G (p.Leu763Arg)
c.983T>G (p.Leu328Arg)
c.2399T>G (p.Leu800Arg)
18g.2922086A>GCA401696807LPIN2c.2288T>C (p.Leu763Pro)
c.983T>C (p.Leu328Pro)
c.2399T>C (p.Leu800Pro)
18g.2922086A>TCA401696802LPIN2c.2288T>A (p.Leu763Gln)
c.983T>A (p.Leu328Gln)
c.2399T>A (p.Leu800Gln)
 gnomAD v4
18g.2922086_2922087delCA2810770069LPIN2c.2287_2288del (p.Leu763AspfsTer26)
c.982_983del (p.Leu328AspfsTer26)
c.2398_2399del (p.Leu800AspfsTer26)
18g.2922087G>ACA502679881LPIN2c.2287C>T (p.Leu763=)
c.982C>T (p.Leu328=)
c.2398C>T (p.Leu800=)
 ClinVar dbSNP
18g.2922087G>CCA8872786LPIN2c.2287C>G (p.Leu763Val)
c.982C>G (p.Leu328Val)
c.2398C>G (p.Leu800Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922087G=CA2280788056LPIN2c.2287C= (p.Leu763=)
c.982C= (p.Leu328=)
c.2398C= (p.Leu800=)
18g.2922087G>TCA295494457LPIN2c.2287C>A (p.Leu763Met)
c.982C>A (p.Leu328Met)
c.2398C>A (p.Leu800Met)
 dbSNP
18g.2922091dupCA2810770070LPIN2c.2287dup (p.Leu763ProfsTer27)
c.982dup (p.Leu328ProfsTer27)
c.2398dup (p.Leu800ProfsTer27)
18g.2922088G>ACA8872787LPIN2c.2286C>T (p.Pro762=)
c.981C>T (p.Pro327=)
c.2397C>T (p.Pro799=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922088G>CCA502679886LPIN2c.2286C>G (p.Pro762=)
c.981C>G (p.Pro327=)
c.2397C>G (p.Pro799=)
18g.2922088G=CA2280788057LPIN2c.2286C= (p.Pro762=)
c.981C= (p.Pro327=)
c.2397C= (p.Pro799=)
18g.2922088G>TCA502679888LPIN2c.2286C>A (p.Pro762=)
c.981C>A (p.Pro327=)
c.2397C>A (p.Pro799=)
 gnomAD v4
18g.2922089G>ACA401696814LPIN2c.2285C>T (p.Pro762Leu)
c.980C>T (p.Pro327Leu)
c.2396C>T (p.Pro799Leu)
18g.2922089G>CCA401696816LPIN2c.2285C>G (p.Pro762Arg)
c.980C>G (p.Pro327Arg)
c.2396C>G (p.Pro799Arg)
18g.2922089G>TCA401696820LPIN2c.2285C>A (p.Pro762His)
c.980C>A (p.Pro327His)
c.2396C>A (p.Pro799His)
18g.2922090G>ACA401696822LPIN2c.2284C>T (p.Pro762Ser)
c.979C>T (p.Pro327Ser)
c.2395C>T (p.Pro799Ser)
 gnomAD v4
18g.2922090G>CCA401696823LPIN2c.2284C>G (p.Pro762Ala)
c.979C>G (p.Pro327Ala)
c.2395C>G (p.Pro799Ala)
18g.2922090G>TCA401696826LPIN2c.2284C>A (p.Pro762Thr)
c.979C>A (p.Pro327Thr)
c.2395C>A (p.Pro799Thr)
18g.2922091G>ACA8872788LPIN2c.2283C>T (p.Gly761=)
c.978C>T (p.Gly326=)
c.2394C>T (p.Gly798=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922091G>CCA502679902LPIN2c.2283C>G (p.Gly761=)
c.978C>G (p.Gly326=)
c.2394C>G (p.Gly798=)
18g.2922091G=CA2280788058LPIN2c.2283C= (p.Gly761=)
c.978C= (p.Gly326=)
c.2394C= (p.Gly798=)
18g.2922091G>TCA502679901LPIN2c.2283C>A (p.Gly761=)
c.978C>A (p.Gly326=)
c.2394C>A (p.Gly798=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.2922092C>ACA401696831LPIN2c.2282G>T (p.Gly761Val)
c.977G>T (p.Gly326Val)
c.2393G>T (p.Gly798Val)
18g.2922092C>GCA401696836LPIN2c.2282G>C (p.Gly761Ala)
c.977G>C (p.Gly326Ala)
c.2393G>C (p.Gly798Ala)
18g.2922092C>TCA401696841LPIN2c.2282G>A (p.Gly761Asp)
c.977G>A (p.Gly326Asp)
c.2393G>A (p.Gly798Asp)
18g.2922095dupCA2640830337LPIN2c.2282dup (p.Leu763ProfsTer27)
c.977dup (p.Leu328ProfsTer27)
c.2393dup (p.Leu800ProfsTer27)
 gnomAD v4
18g.2922093C>ACA401696851LPIN2c.2281G>T (p.Gly761Cys)
c.976G>T (p.Gly326Cys)
c.2392G>T (p.Gly798Cys)
18g.2922093C>GCA401696856LPIN2c.2281G>C (p.Gly761Arg)
c.976G>C (p.Gly326Arg)
c.2392G>C (p.Gly798Arg)
 gnomAD v4
18g.2922093C>TCA401696847LPIN2c.2281G>A (p.Gly761Ser)
c.976G>A (p.Gly326Ser)
c.2392G>A (p.Gly798Ser)
18g.2922093_2922094insTAAAATTTTAGTGCTCACA2810770071LPIN2c.2280_2281insTGAGCACTAAAATTTTA (p.Gly761Ter)
c.975_976insTGAGCACTAAAATTTTA (p.Gly326Ter)
c.2391_2392insTGAGCACTAAAATTTTA (p.Gly798Ter)
18g.2922094C>ACA502679907LPIN2c.2280G>T (p.Arg760=)
c.975G>T (p.Arg325=)
c.2391G>T (p.Arg797=)
18g.2922094C>GCA502679906LPIN2c.2280G>C (p.Arg760=)
c.975G>C (p.Arg325=)
c.2391G>C (p.Arg797=)
18g.2922094C>TCA502679909LPIN2c.2280G>A (p.Arg760=)
c.975G>A (p.Arg325=)
c.2391G>A (p.Arg797=)
18g.2922095C>ACA401696859LPIN2c.2279G>T (p.Arg760Leu)
c.974G>T (p.Arg325Leu)
c.2390G>T (p.Arg797Leu)
18g.2922095C=CA2280788059LPIN2c.2279G= (p.Arg760=)
c.974G= (p.Arg325=)
c.2390G= (p.Arg797=)
18g.2922095C>GCA401696860LPIN2c.2279G>C (p.Arg760Pro)
c.974G>C (p.Arg325Pro)
c.2390G>C (p.Arg797Pro)
18g.2922095C>TCA401696861LPIN2c.2279G>A (p.Arg760Gln)
c.974G>A (p.Arg325Gln)
c.2390G>A (p.Arg797Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.2922096G>ACA8872789LPIN2c.2278C>T (p.Arg760Trp)
c.973C>T (p.Arg325Trp)
c.2389C>T (p.Arg797Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922096G>CCA401696864LPIN2c.2278C>G (p.Arg760Gly)
c.973C>G (p.Arg325Gly)
c.2389C>G (p.Arg797Gly)
 dbSNP gnomAD v4
18g.2922096G=CA2280788060LPIN2c.2278C= (p.Arg760=)
c.973C= (p.Arg325=)
c.2389C= (p.Arg797=)
18g.2922096G>TCA502679911LPIN2c.2278C>A (p.Arg760=)
c.973C>A (p.Arg325=)
c.2389C>A (p.Arg797=)
18g.2922099delCA2640830338LPIN2c.2278del (p.Arg760GlyfsTer4)
c.973del (p.Arg325GlyfsTer4)
c.2389del (p.Arg797GlyfsTer4)
 gnomAD v4
18g.2922097G>ACA502679912LPIN2c.2277C>T (p.Pro759=)
c.972C>T (p.Pro324=)
c.2388C>T (p.Pro796=)
 dbSNP
18g.2922097G>CCA502679914LPIN2c.2277C>G (p.Pro759=)
c.972C>G (p.Pro324=)
c.2388C>G (p.Pro796=)
18g.2922097G=CA2280788061LPIN2c.2277C= (p.Pro759=)
c.972C= (p.Pro324=)
c.2388C= (p.Pro796=)
18g.2922097G>TCA502679913LPIN2c.2277C>A (p.Pro759=)
c.972C>A (p.Pro324=)
c.2388C>A (p.Pro796=)
18g.2922098G>ACA401696865LPIN2c.2276C>T (p.Pro759Leu)
c.971C>T (p.Pro324Leu)
c.2387C>T (p.Pro796Leu)
 ClinVar dbSNP
18g.2922098G>CCA401696867LPIN2c.2276C>G (p.Pro759Arg)
c.971C>G (p.Pro324Arg)
c.2387C>G (p.Pro796Arg)
18g.2922098G>TCA401696871LPIN2c.2276C>A (p.Pro759His)
c.971C>A (p.Pro324His)
c.2387C>A (p.Pro796His)
18g.2922099G>ACA401696873LPIN2c.2275C>T (p.Pro759Ser)
c.970C>T (p.Pro324Ser)
c.2386C>T (p.Pro796Ser)
 gnomAD v4
18g.2922099G>CCA401696875LPIN2c.2275C>G (p.Pro759Ala)
c.970C>G (p.Pro324Ala)
c.2386C>G (p.Pro796Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.2922099G=CA2280788062LPIN2c.2275C= (p.Pro759=)
c.970C= (p.Pro324=)
c.2386C= (p.Pro796=)
18g.2922099G>TCA401696878LPIN2c.2275C>A (p.Pro759Thr)
c.970C>A (p.Pro324Thr)
c.2386C>A (p.Pro796Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.2922100C>ACA401696894LPIN2c.2274G>T (p.Leu758Phe)
c.969G>T (p.Leu323Phe)
c.2385G>T (p.Leu795Phe)
18g.2922100C>GCA401696907LPIN2c.2274G>C (p.Leu758Phe)
c.969G>C (p.Leu323Phe)
c.2385G>C (p.Leu795Phe)
18g.2922100C>TCA502679916LPIN2c.2274G>A (p.Leu758=)
c.969G>A (p.Leu323=)
c.2385G>A (p.Leu795=)
18g.2922101A>CCA401696927LPIN2c.2273T>G (p.Leu758Trp)
c.968T>G (p.Leu323Trp)
c.2384T>G (p.Leu795Trp)
 gnomAD v4
18g.2922101A>GCA401696942LPIN2c.2273T>C (p.Leu758Ser)
c.968T>C (p.Leu323Ser)
c.2384T>C (p.Leu795Ser)
18g.2922101A>TCA401696935LPIN2c.2273T>A (p.Leu758Ter)
c.968T>A (p.Leu323Ter)
c.2384T>A (p.Leu795Ter)
18g.2922102A>CCA401696958LPIN2c.2272T>G (p.Leu758Val)
c.967T>G (p.Leu323Val)
c.2383T>G (p.Leu795Val)
18g.2922102A>GCA502679917LPIN2c.2272T>C (p.Leu758=)
c.967T>C (p.Leu323=)
c.2383T>C (p.Leu795=)
18g.2922102A>TCA401696967LPIN2c.2272T>A (p.Leu758Met)
c.967T>A (p.Leu323Met)
c.2383T>A (p.Leu795Met)
18g.2922103G>ACA502679918LPIN2c.2271C>T (p.Ile757=)
c.966C>T (p.Ile322=)
c.2382C>T (p.Ile794=)
 gnomAD v4
18g.2922103G>CCA401696969LPIN2c.2271C>G (p.Ile757Met)
c.966C>G (p.Ile322Met)
c.2382C>G (p.Ile794Met)
18g.2922103G>TCA502679919LPIN2c.2271C>A (p.Ile757=)
c.966C>A (p.Ile322=)
c.2382C>A (p.Ile794=)
 gnomAD v4
18g.2922104A=CA2280788063LPIN2c.2270T= (p.Ile757=)
c.965T= (p.Ile322=)
c.2381T= (p.Ile794=)
18g.2922104A>CCA401696970LPIN2c.2270T>G (p.Ile757Ser)
c.965T>G (p.Ile322Ser)
c.2381T>G (p.Ile794Ser)
18g.2922104A>GCA401696973LPIN2c.2270T>C (p.Ile757Thr)
c.965T>C (p.Ile322Thr)
c.2381T>C (p.Ile794Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.2922104A>TCA401696977LPIN2c.2270T>A (p.Ile757Asn)
c.965T>A (p.Ile322Asn)
c.2381T>A (p.Ile794Asn)
18g.2922105T>ACA401696988LPIN2c.2269A>T (p.Ile757Phe)
c.964A>T (p.Ile322Phe)
c.2380A>T (p.Ile794Phe)
18g.2922105T>CCA8872790LPIN2c.2269A>G (p.Ile757Val)
c.964A>G (p.Ile322Val)
c.2380A>G (p.Ile794Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922105T>GCA401696995LPIN2c.2269A>C (p.Ile757Leu)
c.964A>C (p.Ile322Leu)
c.2380A>C (p.Ile794Leu)
18g.2922105T=CA2280788064LPIN2c.2269A= (p.Ile757=)
c.964A= (p.Ile322=)
c.2380A= (p.Ile794=)
18g.2922105_2922107delinsTTGCA2280788065LPIN2c.2267_2269delinsCAA (p.Thr756=)
c.962_964delinsCAA (p.Thr321=)
c.2378_2380delinsCAA (p.Thr793=)
18g.2922106T>ACA502679922LPIN2c.2268A>T (p.Thr756=)
c.963A>T (p.Thr321=)
c.2379A>T (p.Thr793=)
18g.2922106T>CCA8872791LPIN2c.2268A>G (p.Thr756=)
c.963A>G (p.Thr321=)
c.2379A>G (p.Thr793=)
 ClinVar dbSNP ExAC gnomAD v2
18g.2922106T>GCA502679923LPIN2c.2268A>C (p.Thr756=)
c.963A>C (p.Thr321=)
c.2379A>C (p.Thr793=)
18g.2922106T=CA2280788066LPIN2c.2268A= (p.Thr756=)
c.963A= (p.Thr321=)
c.2379A= (p.Thr793=)
18g.2922108_2922109delCA987245641LPIN2c.2267_2268del (p.Thr756AsnfsTer?)
c.962_963del (p.Thr321AsnfsTer?)
c.2378_2379del (p.Thr793AsnfsTer?)
 dbSNP gnomAD v3 gnomAD v4
18g.2922107G>ACA8872792LPIN2c.2267C>T (p.Thr756Ile)
c.962C>T (p.Thr321Ile)
c.2378C>T (p.Thr793Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922107G>CCA401697004LPIN2c.2267C>G (p.Thr756Arg)
c.962C>G (p.Thr321Arg)
c.2378C>G (p.Thr793Arg)
18g.2922107G=CA2280788067LPIN2c.2267C= (p.Thr756=)
c.962C= (p.Thr321=)
c.2378C= (p.Thr793=)
18g.2922107G>TCA401697001LPIN2c.2267C>A (p.Thr756Lys)
c.962C>A (p.Thr321Lys)
c.2378C>A (p.Thr793Lys)
18g.2922108T>ACA401697015LPIN2c.2266A>T (p.Thr756Ser)
c.961A>T (p.Thr321Ser)
c.2377A>T (p.Thr793Ser)
18g.2922108T>CCA401697021LPIN2c.2266A>G (p.Thr756Ala)
c.961A>G (p.Thr321Ala)
c.2377A>G (p.Thr793Ala)
18g.2922108T>GCA401697020LPIN2c.2266A>C (p.Thr756Pro)
c.961A>C (p.Thr321Pro)
c.2377A>C (p.Thr793Pro)
18g.2922109G>ACA502679925LPIN2c.2265C>T (p.Gly755=)
c.960C>T (p.Gly320=)
c.2376C>T (p.Gly792=)
 ClinVar dbSNP gnomAD v4
18g.2922109G>CCA502679927LPIN2c.2265C>G (p.Gly755=)
c.960C>G (p.Gly320=)
c.2376C>G (p.Gly792=)
18g.2922109G>TCA502679926LPIN2c.2265C>A (p.Gly755=)
c.960C>A (p.Gly320=)
c.2376C>A (p.Gly792=)
18g.2922110C>ACA401697022LPIN2c.2264G>T (p.Gly755Val)
c.959G>T (p.Gly320Val)
c.2375G>T (p.Gly792Val)
18g.2922110C>GCA401697023LPIN2c.2264G>C (p.Gly755Ala)
c.959G>C (p.Gly320Ala)
c.2375G>C (p.Gly792Ala)
18g.2922110C>TCA401697025LPIN2c.2264G>A (p.Gly755Asp)
c.959G>A (p.Gly320Asp)
c.2375G>A (p.Gly792Asp)
18g.2922111C>ACA401697029LPIN2c.2263G>T (p.Gly755Cys)
c.958G>T (p.Gly320Cys)
c.2374G>T (p.Gly792Cys)
18g.2922111C=CA2280788068LPIN2c.2263G= (p.Gly755=)
c.958G= (p.Gly320=)
c.2374G= (p.Gly792=)
18g.2922111C>GCA401697031LPIN2c.2263G>C (p.Gly755Arg)
c.958G>C (p.Gly320Arg)
c.2374G>C (p.Gly792Arg)
 gnomAD v4
18g.2922111C>TCA401697034LPIN2c.2263G>A (p.Gly755Ser)
c.958G>A (p.Gly320Ser)
c.2374G>A (p.Gly792Ser)
 dbSNP gnomAD v4
18g.2922112C>ACA401697038LPIN2c.2262G>T (p.Lys754Asn)
c.957G>T (p.Lys319Asn)
c.2373G>T (p.Lys791Asn)
18g.2922112C>GCA401697040LPIN2c.2262G>C (p.Lys754Asn)
c.957G>C (p.Lys319Asn)
c.2373G>C (p.Lys791Asn)
18g.2922112C>TCA502679929LPIN2c.2262G>A (p.Lys754=)
c.957G>A (p.Lys319=)
c.2373G>A (p.Lys791=)
18g.2922113T>ACA401697045LPIN2c.2261A>T (p.Lys754Met)
c.956A>T (p.Lys319Met)
c.2372A>T (p.Lys791Met)
18g.2922113T>CCA295494467LPIN2c.2261A>G (p.Lys754Arg)
c.956A>G (p.Lys319Arg)
c.2372A>G (p.Lys791Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.2922113T>GCA401697046LPIN2c.2261A>C (p.Lys754Thr)
c.956A>C (p.Lys319Thr)
c.2372A>C (p.Lys791Thr)
18g.2922113T=CA2280788069LPIN2c.2261A= (p.Lys754=)
c.956A= (p.Lys319=)
c.2372A= (p.Lys791=)
18g.2922114T>ACA401697053LPIN2c.2260A>T (p.Lys754Ter)
c.955A>T (p.Lys319Ter)
c.2371A>T (p.Lys791Ter)
18g.2922114T>CCA401697048LPIN2c.2260A>G (p.Lys754Glu)
c.955A>G (p.Lys319Glu)
c.2371A>G (p.Lys791Glu)
 gnomAD v4
18g.2922114T>GCA401697049LPIN2c.2260A>C (p.Lys754Gln)
c.955A>C (p.Lys319Gln)
c.2371A>C (p.Lys791Gln)
18g.2922115G>ACA502679930LPIN2c.2259C>T (p.Asp753=)
c.954C>T (p.Asp318=)
c.2370C>T (p.Asp790=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.2922115G>CCA401697057LPIN2c.2259C>G (p.Asp753Glu)
c.954C>G (p.Asp318Glu)
c.2370C>G (p.Asp790Glu)
18g.2922115G=CA2280788070LPIN2c.2259C= (p.Asp753=)
c.954C= (p.Asp318=)
c.2370C= (p.Asp790=)
18g.2922115G>TCA401697062LPIN2c.2259C>A (p.Asp753Glu)
c.954C>A (p.Asp318Glu)
c.2370C>A (p.Asp790Glu)
18g.2922116T>ACA401697073LPIN2c.2258A>T (p.Asp753Val)
c.953A>T (p.Asp318Val)
c.2369A>T (p.Asp790Val)
18g.2922116T>CCA401697081LPIN2c.2258A>G (p.Asp753Gly)
c.953A>G (p.Asp318Gly)
c.2369A>G (p.Asp790Gly)
18g.2922116T>GCA401697085LPIN2c.2258A>C (p.Asp753Ala)
c.953A>C (p.Asp318Ala)
c.2369A>C (p.Asp790Ala)
18g.2922117C>ACA401697090LPIN2c.2257G>T (p.Asp753Tyr)
c.952G>T (p.Asp318Tyr)
c.2368G>T (p.Asp790Tyr)
18g.2922117C>GCA401697093LPIN2c.2257G>C (p.Asp753His)
c.952G>C (p.Asp318His)
c.2368G>C (p.Asp790His)
18g.2922117C>TCA401697095LPIN2c.2257G>A (p.Asp753Asn)
c.952G>A (p.Asp318Asn)
c.2368G>A (p.Asp790Asn)
18g.2922118A=CA2280788071LPIN2c.2256T= (p.Asn752=)
c.951T= (p.Asn317=)
c.2367T= (p.Asn789=)
18g.2922118A>CCA401697097LPIN2c.2256T>G (p.Asn752Lys)
c.951T>G (p.Asn317Lys)
c.2367T>G (p.Asn789Lys)
18g.2922118A>GCA502679932LPIN2c.2256T>C (p.Asn752=)
c.951T>C (p.Asn317=)
c.2367T>C (p.Asn789=)
 dbSNP gnomAD v3 gnomAD v4
18g.2922118A>TCA401697098LPIN2c.2256T>A (p.Asn752Lys)
c.951T>A (p.Asn317Lys)
c.2367T>A (p.Asn789Lys)
18g.2922119T>ACA401697106LPIN2c.2255A>T (p.Asn752Ile)
c.950A>T (p.Asn317Ile)
c.2366A>T (p.Asn789Ile)
18g.2922119T>CCA8872793LPIN2c.2255A>G (p.Asn752Ser)
c.950A>G (p.Asn317Ser)
c.2366A>G (p.Asn789Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922119T>GCA401697101LPIN2c.2255A>C (p.Asn752Thr)
c.950A>C (p.Asn317Thr)
c.2366A>C (p.Asn789Thr)
18g.2922119T=CA2280788072LPIN2c.2255A= (p.Asn752=)
c.950A= (p.Asn317=)
c.2366A= (p.Asn789=)
18g.2922120T>ACA401697115LPIN2c.2254A>T (p.Asn752Tyr)
c.949A>T (p.Asn317Tyr)
c.2365A>T (p.Asn789Tyr)
18g.2922120T>CCA401697118LPIN2c.2254A>G (p.Asn752Asp)
c.949A>G (p.Asn317Asp)
c.2365A>G (p.Asn789Asp)
18g.2922120T>GCA401697121LPIN2c.2254A>C (p.Asn752His)
c.949A>C (p.Asn317His)
c.2365A>C (p.Asn789His)
18g.2922121G>ACA502679933LPIN2c.2253C>T (p.Val751=)
c.948C>T (p.Val316=)
c.2364C>T (p.Val788=)
18g.2922121G>CCA502679934LPIN2c.2253C>G (p.Val751=)
c.948C>G (p.Val316=)
c.2364C>G (p.Val788=)
18g.2922121G>TCA502679935LPIN2c.2253C>A (p.Val751=)
c.948C>A (p.Val316=)
c.2364C>A (p.Val788=)
18g.2922122A>CCA401697130LPIN2c.2252T>G (p.Val751Gly)
c.947T>G (p.Val316Gly)
c.2363T>G (p.Val788Gly)
18g.2922122A>GCA401697140LPIN2c.2252T>C (p.Val751Ala)
c.947T>C (p.Val316Ala)
c.2363T>C (p.Val788Ala)
18g.2922122A>TCA401697147LPIN2c.2252T>A (p.Val751Asp)
c.947T>A (p.Val316Asp)
c.2363T>A (p.Val788Asp)
18g.2922123C>ACA401697150LPIN2c.2251G>T (p.Val751Phe)
c.946G>T (p.Val316Phe)
c.2362G>T (p.Val788Phe)
18g.2922123C>GCA401697153LPIN2c.2251G>C (p.Val751Leu)
c.946G>C (p.Val316Leu)
c.2362G>C (p.Val788Leu)
18g.2922123C>TCA401697157LPIN2c.2251G>A (p.Val751Ile)
c.946G>A (p.Val316Ile)
c.2362G>A (p.Val788Ile)
18g.2922124C>ACA401697161LPIN2c.2250G>T (p.Trp750Cys)
c.945G>T (p.Trp315Cys)
c.2361G>T (p.Trp787Cys)
18g.2922124C>GCA401697170LPIN2c.2250G>C (p.Trp750Cys)
c.945G>C (p.Trp315Cys)
c.2361G>C (p.Trp787Cys)
18g.2922124C>TCA401697171LPIN2c.2250G>A (p.Trp750Ter)
c.945G>A (p.Trp315Ter)
c.2361G>A (p.Trp787Ter)
18g.2922125C>ACA401697174LPIN2c.2249G>T (p.Trp750Leu)
c.944G>T (p.Trp315Leu)
c.2360G>T (p.Trp787Leu)
18g.2922125C>GCA401697177LPIN2c.2249G>C (p.Trp750Ser)
c.944G>C (p.Trp315Ser)
c.2360G>C (p.Trp787Ser)
18g.2922125C>TCA401697172LPIN2c.2249G>A (p.Trp750Ter)
c.944G>A (p.Trp315Ter)
c.2360G>A (p.Trp787Ter)
18g.2922126A=CA2280788073LPIN2c.2248T= (p.Trp750=)
c.943T= (p.Trp315=)
c.2359T= (p.Trp787=)
18g.2922126A>CCA8872794LPIN2c.2248T>G (p.Trp750Gly)
c.943T>G (p.Trp315Gly)
c.2359T>G (p.Trp787Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
18g.2922126A>GCA401697201LPIN2c.2248T>C (p.Trp750Arg)
c.943T>C (p.Trp315Arg)
c.2359T>C (p.Trp787Arg)
18g.2922126A>TCA401697206LPIN2c.2248T>A (p.Trp750Arg)
c.943T>A (p.Trp315Arg)
c.2359T>A (p.Trp787Arg)
18g.2922127G>ACA502679941LPIN2c.2247C>T (p.His749=)
c.942C>T (p.His314=)
c.2358C>T (p.His786=)
18g.2922127G>CCA8872795LPIN2c.2247C>G (p.His749Gln)
c.942C>G (p.His314Gln)
c.2358C>G (p.His786Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922127G=CA2280788074LPIN2c.2247C= (p.His749=)
c.942C= (p.His314=)
c.2358C= (p.His786=)
18g.2922127G>TCA401697215LPIN2c.2247C>A (p.His749Gln)
c.942C>A (p.His314Gln)
c.2358C>A (p.His786Gln)
18g.2922128T>ACA401697232LPIN2c.2246A>T (p.His749Leu)
c.941A>T (p.His314Leu)
c.2357A>T (p.His786Leu)
18g.2922128T>CCA401697225LPIN2c.2246A>G (p.His749Arg)
c.941A>G (p.His314Arg)
c.2357A>G (p.His786Arg)
 ClinVar dbSNP
18g.2922128T>GCA401697229LPIN2c.2246A>C (p.His749Pro)
c.941A>C (p.His314Pro)
c.2357A>C (p.His786Pro)
 dbSNP
18g.2922128T=CA2280788075LPIN2c.2246A= (p.His749=)
c.941A= (p.His314=)
c.2357A= (p.His786=)
18g.2922129G>ACA8872796LPIN2c.2245C>T (p.His749Tyr)
c.940C>T (p.His314Tyr)
c.2356C>T (p.His786Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.2922129G>CCA401697236LPIN2c.2245C>G (p.His749Asp)
c.940C>G (p.His314Asp)
c.2356C>G (p.His786Asp)
18g.2922129G=CA2280788076LPIN2c.2245C= (p.His749=)
c.940C= (p.His314=)
c.2356C= (p.His786=)
18g.2922129G>TCA401697244LPIN2c.2245C>A (p.His749Asn)
c.940C>A (p.His314Asn)
c.2356C>A (p.His786Asn)
18g.2922130C>ACA502679942LPIN2c.2244G>T (p.Leu748=)
c.939G>T (p.Leu313=)
c.2355G>T (p.Leu785=)
18g.2922130C>GCA502679943LPIN2c.2244G>C (p.Leu748=)
c.939G>C (p.Leu313=)
c.2355G>C (p.Leu785=)
18g.2922130C>TCA502679945LPIN2c.2244G>A (p.Leu748=)
c.939G>A (p.Leu313=)
c.2355G>A (p.Leu785=)
18g.2922131A>CCA401697247LPIN2c.2243T>G (p.Leu748Arg)
c.938T>G (p.Leu313Arg)
c.2354T>G (p.Leu785Arg)
18g.2922131A>GCA401697250LPIN2c.2243T>C (p.Leu748Pro)
c.938T>C (p.Leu313Pro)
c.2354T>C (p.Leu785Pro)
18g.2922131A>TCA401697254LPIN2c.2243T>A (p.Leu748Gln)
c.938T>A (p.Leu313Gln)
c.2354T>A (p.Leu785Gln)
18g.2922131_2922133delinsCCCA2695227194LPIN2c.2241_2243delinsGG (p.Tyr747Ter)
c.936_938delinsGG (p.Tyr312Ter)
c.2352_2354delinsGG (p.Tyr784Ter)
18g.2922132G>ACA8872797LPIN2c.2242C>T (p.Leu748=)
c.937C>T (p.Leu313=)
c.2353C>T (p.Leu785=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922132G>CCA401697256LPIN2c.2242C>G (p.Leu748Val)
c.937C>G (p.Leu313Val)
c.2353C>G (p.Leu785Val)
18g.2922132G=CA2280788077LPIN2c.2242C= (p.Leu748=)
c.937C= (p.Leu313=)
c.2353C= (p.Leu785=)
18g.2922132G>TCA401697255LPIN2c.2242C>A (p.Leu748Met)
c.937C>A (p.Leu313Met)
c.2353C>A (p.Leu785Met)
18g.2922133G>ACA502679948LPIN2c.2241C>T (p.Tyr747=)
c.936C>T (p.Tyr312=)
c.2352C>T (p.Tyr784=)
18g.2922133G>CCA401697260LPIN2c.2241C>G (p.Tyr747Ter)
c.936C>G (p.Tyr312Ter)
c.2352C>G (p.Tyr784Ter)
18g.2922133G>TCA401697259LPIN2c.2241C>A (p.Tyr747Ter)
c.936C>A (p.Tyr312Ter)
c.2352C>A (p.Tyr784Ter)
18g.2922134T>ACA401697262LPIN2c.2240A>T (p.Tyr747Phe)
c.935A>T (p.Tyr312Phe)
c.2351A>T (p.Tyr784Phe)
18g.2922134T>CCA401697264LPIN2c.2240A>G (p.Tyr747Cys)
c.935A>G (p.Tyr312Cys)
c.2351A>G (p.Tyr784Cys)
 dbSNP gnomAD v4
18g.2922134T>GCA401697266LPIN2c.2240A>C (p.Tyr747Ser)
c.935A>C (p.Tyr312Ser)
c.2351A>C (p.Tyr784Ser)
 gnomAD v4
18g.2922134T=CA2280788078LPIN2c.2240A= (p.Tyr747=)
c.935A= (p.Tyr312=)
c.2351A= (p.Tyr784=)
18g.2922135A>CCA401697268LPIN2c.2239T>G (p.Tyr747Asp)
c.934T>G (p.Tyr312Asp)
c.2350T>G (p.Tyr784Asp)
18g.2922135A>GCA401697271LPIN2c.2239T>C (p.Tyr747His)
c.934T>C (p.Tyr312His)
c.2350T>C (p.Tyr784His)
18g.2922135A>TCA401697272LPIN2c.2239T>A (p.Tyr747Asn)
c.934T>A (p.Tyr312Asn)
c.2350T>A (p.Tyr784Asn)
18g.2922135_2922156delinsAGCCACGGGTCATGTCGGCCATCA2280788079LPIN2c.2218_2239delinsATGGCCGACATGACCCGTGGCT (p.Met740=)
c.913_934delinsATGGCCGACATGACCCGTGGCT (p.Met305=)
c.2329_2350delinsATGGCCGACATGACCCGTGGCT (p.Met777=)
18g.2922136G>ACA502679951LPIN2c.2238C>T (p.Gly746=)
c.933C>T (p.Gly311=)
c.2349C>T (p.Gly783=)
 gnomAD v4
18g.2922136G>CCA502679950LPIN2c.2238C>G (p.Gly746=)
c.933C>G (p.Gly311=)
c.2349C>G (p.Gly783=)
 dbSNP
18g.2922136G=CA2280788080LPIN2c.2238C= (p.Gly746=)
c.933C= (p.Gly311=)
c.2349C= (p.Gly783=)
18g.2922136G>TCA502679952LPIN2c.2238C>A (p.Gly746=)
c.933C>A (p.Gly311=)
c.2349C>A (p.Gly783=)
18g.2922139_2922159delCA778210761LPIN2c.2218_2238del (p.Met740_Gly746del)
c.913_933del (p.Met305_Gly311del)
c.2329_2349del (p.Met777_Gly783del)
 dbSNP gnomAD v3 gnomAD v4
18g.2922137C>ACA401697283LPIN2c.2237G>T (p.Gly746Val)
c.932G>T (p.Gly311Val)
c.2348G>T (p.Gly783Val)
18g.2922137C=CA2280788081LPIN2c.2237G= (p.Gly746=)
c.932G= (p.Gly311=)
c.2348G= (p.Gly783=)
18g.2922137C>GCA401697275LPIN2c.2237G>C (p.Gly746Ala)
c.932G>C (p.Gly311Ala)
c.2348G>C (p.Gly783Ala)
18g.2922137C>TCA401697279LPIN2c.2237G>A (p.Gly746Asp)
c.932G>A (p.Gly311Asp)
c.2348G>A (p.Gly783Asp)
 ClinVar dbSNP
18g.2922138C>ACA401697288LPIN2c.2236G>T (p.Gly746Cys)
c.931G>T (p.Gly311Cys)
c.2347G>T (p.Gly783Cys)
18g.2922138C>GCA401697293LPIN2c.2236G>C (p.Gly746Arg)
c.931G>C (p.Gly311Arg)
c.2347G>C (p.Gly783Arg)
18g.2922138C>TCA401697297LPIN2c.2236G>A (p.Gly746Ser)
c.931G>A (p.Gly311Ser)
c.2347G>A (p.Gly783Ser)
18g.2922139A>CCA502679953LPIN2c.2235T>G (p.Arg745=)
c.930T>G (p.Arg310=)
c.2346T>G (p.Arg782=)
18g.2922139A>GCA502679955LPIN2c.2235T>C (p.Arg745=)
c.930T>C (p.Arg310=)
c.2346T>C (p.Arg782=)
 gnomAD v4
18g.2922139A>TCA502679954LPIN2c.2235T>A (p.Arg745=)
c.930T>A (p.Arg310=)
c.2346T>A (p.Arg782=)
18g.2922140C>ACA401697302LPIN2c.2234G>T (p.Arg745Leu)
c.929G>T (p.Arg310Leu)
c.2345G>T (p.Arg782Leu)
 gnomAD v4
18g.2922140C=CA2280788082LPIN2c.2234G= (p.Arg745=)
c.929G= (p.Arg310=)
c.2345G= (p.Arg782=)
18g.2922140C>GCA401697306LPIN2c.2234G>C (p.Arg745Pro)
c.929G>C (p.Arg310Pro)
c.2345G>C (p.Arg782Pro)
 gnomAD v4
18g.2922140C>TCA401697309LPIN2c.2234G>A (p.Arg745His)
c.929G>A (p.Arg310His)
c.2345G>A (p.Arg782His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.2922141G>ACA8872798LPIN2c.2233C>T (p.Arg745Cys)
c.928C>T (p.Arg310Cys)
c.2344C>T (p.Arg782Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.2922141G>CCA401697327LPIN2c.2233C>G (p.Arg745Gly)
c.928C>G (p.Arg310Gly)
c.2344C>G (p.Arg782Gly)
18g.2922141G=CA2280788083LPIN2c.2233C= (p.Arg745=)
c.928C= (p.Arg310=)
c.2344C= (p.Arg782=)
18g.2922141G>TCA401697324LPIN2c.2233C>A (p.Arg745Ser)
c.928C>A (p.Arg310Ser)
c.2344C>A (p.Arg782Ser)
18g.2922142G>ACA502679959LPIN2c.2232C>T (p.Thr744=)
c.927C>T (p.Thr309=)
c.2343C>T (p.Thr781=)
 gnomAD v4
18g.2922142G>CCA502679960LPIN2c.2232C>G (p.Thr744=)
c.927C>G (p.Thr309=)
c.2343C>G (p.Thr781=)
 dbSNP
18g.2922142G=CA2280788084LPIN2c.2232C= (p.Thr744=)
c.927C= (p.Thr309=)
c.2343C= (p.Thr781=)
18g.2922142G>TCA502679961LPIN2c.2232C>A (p.Thr744=)
c.927C>A (p.Thr309=)
c.2343C>A (p.Thr781=)
18g.2922143G>ACA401697336LPIN2c.2231C>T (p.Thr744Ile)
c.926C>T (p.Thr309Ile)
c.2342C>T (p.Thr781Ile)
18g.2922143G>CCA401697340LPIN2c.2231C>G (p.Thr744Ser)
c.926C>G (p.Thr309Ser)
c.2342C>G (p.Thr781Ser)
18g.2922143G>TCA401697344LPIN2c.2231C>A (p.Thr744Asn)
c.926C>A (p.Thr309Asn)
c.2342C>A (p.Thr781Asn)
18g.2922144T>ACA401697351LPIN2c.2230A>T (p.Thr744Ser)
c.925A>T (p.Thr309Ser)
c.2341A>T (p.Thr781Ser)
18g.2922144T>CCA401697365LPIN2c.2230A>G (p.Thr744Ala)
c.925A>G (p.Thr309Ala)
c.2341A>G (p.Thr781Ala)
18g.2922144T>GCA401697368LPIN2c.2230A>C (p.Thr744Pro)
c.925A>C (p.Thr309Pro)
c.2341A>C (p.Thr781Pro)
18g.2922145C>ACA401697371LPIN2c.2229G>T (p.Met743Ile)
c.924G>T (p.Met308Ile)
c.2340G>T (p.Met780Ile)
18g.2922145C>GCA401697372LPIN2c.2229G>C (p.Met743Ile)
c.924G>C (p.Met308Ile)
c.2340G>C (p.Met780Ile)
18g.2922145C>TCA401697373LPIN2c.2229G>A (p.Met743Ile)
c.924G>A (p.Met308Ile)
c.2340G>A (p.Met780Ile)
18g.2922146A>CCA401697377LPIN2c.2228T>G (p.Met743Arg)
c.923T>G (p.Met308Arg)
c.2339T>G (p.Met780Arg)
18g.2922146A>GCA401697385LPIN2c.2228T>C (p.Met743Thr)
c.923T>C (p.Met308Thr)
c.2339T>C (p.Met780Thr)
18g.2922146A>TCA401697387LPIN2c.2228T>A (p.Met743Lys)
c.923T>A (p.Met308Lys)
c.2339T>A (p.Met780Lys)
 gnomAD v4
18g.2922147T>ACA401697388LPIN2c.2227A>T (p.Met743Leu)
c.922A>T (p.Met308Leu)
c.2338A>T (p.Met780Leu)
18g.2922147T>CCA401697395LPIN2c.2227A>G (p.Met743Val)
c.922A>G (p.Met308Val)
c.2338A>G (p.Met780Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.2922147T>GCA401697393LPIN2c.2227A>C (p.Met743Leu)
c.922A>C (p.Met308Leu)
c.2338A>C (p.Met780Leu)
18g.2922147T=CA2280788085LPIN2c.2227A= (p.Met743=)
c.922A= (p.Met308=)
c.2338A= (p.Met780=)
18g.2922147_2922148delinsTGCA2280788086LPIN2c.2226_2227delinsCA (p.Asp742=)
c.921_922delinsCA (p.Asp307=)
c.2337_2338delinsCA (p.Asp779=)

Number of alleles fetched