Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.203867482_203869297delCA915942294CTLA4c.48-436_181+1246del
 ClinVar
2g.203868016_203868017delinsTGCA1322148611CTLA4c.74_75delinsTG (p.Leu25=)
c.146_147delinsTG (p.Leu49=)
n.74_75delinsTG
n.214_215delinsTG
2g.203868017delCA173994CTLA4c.75del (p.Leu28PhefsTer?)
c.147del (p.Leu52PhefsTer?)
n.75del
n.215del
 ClinVar dbSNP gnomAD v4
2g.203868017G>ACA431020370CTLA4c.75G>A (p.Leu25=)
c.147G>A (p.Leu49=)
n.75G>A
n.215G>A
 dbSNP gnomAD v3 gnomAD v4
2g.203868017G>CCA2067039CTLA4c.75G>C (p.Leu25=)
c.147G>C (p.Leu49=)
n.75G>C
n.215G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.203868017G=CA1322148613CTLA4c.75G= (p.Leu25=)
c.147G= (p.Leu49=)
n.75G=
n.215G=
2g.203868017G>TCA431020369CTLA4c.75G>T (p.Leu25=)
c.147G>T (p.Leu49=)
n.75G>T
n.215G>T
2g.203868018T>ACA350137990CTLA4c.76T>A (p.Phe26Ile)
c.148T>A (p.Phe50Ile)
n.76T>A
n.216T>A
 gnomAD v4
2g.203868018T>CCA350137991CTLA4c.76T>C (p.Phe26Leu)
c.148T>C (p.Phe50Leu)
n.76T>C
n.216T>C
 gnomAD v4
2g.203868018T>GCA350137992CTLA4c.76T>G (p.Phe26Val)
c.148T>G (p.Phe50Val)
n.76T>G
n.216T>G
2g.203868018_203868019delinsACA2586971123CTLA4c.76_77delinsA (p.Phe26IlefsTer?)
c.148_149delinsA (p.Phe50IlefsTer?)
n.76_77delinsA
n.216_217delinsA
2g.203868023dupCA645516071CTLA4c.81dup (p.Leu28SerfsTer?)
c.153dup (p.Leu52SerfsTer?)
n.81dup
n.221dup
 ClinVar dbSNP COSMIC
2g.203868023delCA645516070CTLA4c.81del (p.Leu28PhefsTer?)
c.153del (p.Leu52PhefsTer?)
n.81del
n.221del
 COSMIC
2g.203868019T>ACA350137994CTLA4c.77T>A (p.Phe26Tyr)
c.149T>A (p.Phe50Tyr)
n.77T>A
n.217T>A
2g.203868019T>CCA2067040CTLA4c.77T>C (p.Phe26Ser)
c.149T>C (p.Phe50Ser)
n.77T>C
n.217T>C
 dbSNP ExAC gnomAD v2
2g.203868019T>GCA350137993CTLA4c.77T>G (p.Phe26Cys)
c.149T>G (p.Phe50Cys)
n.77T>G
n.217T>G
 dbSNP
2g.203868019T=CA1322148614CTLA4c.77T= (p.Phe26=)
c.149T= (p.Phe50=)
n.77T=
n.217T=
2g.203868020T>ACA350137995CTLA4c.78T>A (p.Phe26Leu)
c.150T>A (p.Phe50Leu)
n.78T>A
n.218T>A
2g.203868020T>CCA431020371CTLA4c.78T>C (p.Phe26=)
c.150T>C (p.Phe50=)
n.78T>C
n.218T>C
2g.203868020T>GCA350137996CTLA4c.78T>G (p.Phe26Leu)
c.150T>G (p.Phe50Leu)
n.78T>G
n.218T>G
2g.203868021T>ACA350137997CTLA4c.79T>A (p.Phe27Ile)
c.151T>A (p.Phe51Ile)
n.79T>A
n.219T>A
2g.203868021T>CCA350137998CTLA4c.79T>C (p.Phe27Leu)
c.151T>C (p.Phe51Leu)
n.79T>C
n.219T>C
 dbSNP gnomAD v4
2g.203868021T>GCA350137999CTLA4c.79T>G (p.Phe27Val)
c.151T>G (p.Phe51Val)
n.79T>G
n.219T>G
2g.203868021T=CA1322148615CTLA4c.79T= (p.Phe27=)
c.151T= (p.Phe51=)
n.79T=
n.219T=
2g.203868022T>ACA350138002CTLA4c.80T>A (p.Phe27Tyr)
c.152T>A (p.Phe51Tyr)
n.80T>A
n.220T>A
2g.203868022T>CCA350138001CTLA4c.80T>C (p.Phe27Ser)
c.152T>C (p.Phe51Ser)
n.80T>C
n.220T>C
2g.203868022T>GCA350138000CTLA4c.80T>G (p.Phe27Cys)
c.152T>G (p.Phe51Cys)
n.80T>G
n.220T>G
2g.203868023T>ACA350138003CTLA4c.81T>A (p.Phe27Leu)
c.153T>A (p.Phe51Leu)
n.81T>A
n.221T>A
2g.203868023T>CCA431020372CTLA4c.81T>C (p.Phe27=)
c.153T>C (p.Phe51=)
n.81T>C
n.221T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.203868023T>GCA350138004CTLA4c.81T>G (p.Phe27Leu)
c.153T>G (p.Phe51Leu)
n.81T>G
n.221T>G
2g.203868023T=CA1322148616CTLA4c.81T= (p.Phe27=)
c.153T= (p.Phe51=)
n.81T=
n.221T=
2g.203868024delCA2586971124CTLA4c.82del (p.Leu28PhefsTer?)
c.154del (p.Leu52PhefsTer?)
n.82del
n.222del
2g.203868024C>ACA350138005CTLA4c.82C>A (p.Leu28Ile)
c.154C>A (p.Leu52Ile)
n.82C>A
n.222C>A
2g.203868024C>GCA350138006CTLA4c.82C>G (p.Leu28Val)
c.154C>G (p.Leu52Val)
n.82C>G
n.222C>G
 gnomAD v4
2g.203868024C>TCA350138007CTLA4c.82C>T (p.Leu28Phe)
c.154C>T (p.Leu52Phe)
n.82C>T
n.222C>T
 gnomAD v3 gnomAD v4
2g.203868025T>ACA350138008CTLA4c.83T>A (p.Leu28His)
c.155T>A (p.Leu52His)
n.83T>A
n.223T>A
2g.203868025T>CCA350138009CTLA4c.83T>C (p.Leu28Pro)
c.155T>C (p.Leu52Pro)
n.83T>C
n.223T>C
2g.203868025T>GCA350138010CTLA4c.83T>G (p.Leu28Arg)
c.155T>G (p.Leu52Arg)
n.83T>G
n.223T>G
2g.203868026T>ACA431020373CTLA4c.84T>A (p.Leu28=)
c.156T>A (p.Leu52=)
n.84T>A
n.224T>A
2g.203868026T>CCA431020374CTLA4c.84T>C (p.Leu28=)
c.156T>C (p.Leu52=)
n.84T>C
n.224T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.203868026T>GCA431020375CTLA4c.84T>G (p.Leu28=)
c.156T>G (p.Leu52=)
n.84T>G
n.224T>G
2g.203868026T=CA1322148617CTLA4c.84T= (p.Leu28=)
c.156T= (p.Leu52=)
n.84T=
n.224T=
2g.203868027C>ACA350138011CTLA4c.85C>A (p.Leu29Ile)
c.157C>A (p.Leu53Ile)
n.85C>A
n.225C>A
2g.203868027C>GCA350138012CTLA4c.85C>G (p.Leu29Val)
c.157C>G (p.Leu53Val)
n.85C>G
n.225C>G
 gnomAD v4
2g.203868027C>TCA350138013CTLA4c.85C>T (p.Leu29Phe)
c.157C>T (p.Leu53Phe)
n.85C>T
n.225C>T
 gnomAD v3 gnomAD v4
2g.203868028T>ACA350138014CTLA4c.86T>A (p.Leu29His)
c.158T>A (p.Leu53His)
n.86T>A
n.226T>A
2g.203868028T>CCA350138015CTLA4c.86T>C (p.Leu29Pro)
c.158T>C (p.Leu53Pro)
n.86T>C
n.226T>C
2g.203868028T>GCA350138016CTLA4c.86T>G (p.Leu29Arg)
c.158T>G (p.Leu53Arg)
n.86T>G
n.226T>G
2g.203868029C>ACA431020376CTLA4c.87C>A (p.Leu29=)
c.159C>A (p.Leu53=)
n.87C>A
n.227C>A
2g.203868029C=CA1322148618CTLA4c.87C= (p.Leu29=)
c.159C= (p.Leu53=)
n.87C=
n.227C=

Number of alleles fetched