Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.2922046C>ACA401696395LPIN2c.2327+1G>T (n.2327+1G>T)
c.1022+1G>T (n.1022+1G>T)
c.2438+1G>T (n.2438+1G>T)
18g.2922046C=CA2280788042LPIN2c.2327+1G= (n.2327+1G=)
c.1022+1G= (n.1022+1G=)
c.2438+1G= (n.2438+1G=)
18g.2922046C>GCA342166LPIN2c.2327+1G>C (n.2327+1G>C)
c.1022+1G>C (n.1022+1G>C)
c.2438+1G>C (n.2438+1G>C)
 ClinVar dbSNP
18g.2922046C>TCA401696391LPIN2c.2327+1G>A (n.2327+1G>A)
c.1022+1G>A (n.1022+1G>A)
c.2438+1G>A (n.2438+1G>A)
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)

Number of alleles fetched