Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.203867482_203869297delCA915942294CTLA4c.48-436_181+1246del
 ClinVar
2g.203868000_203868003dupCA2586971122CTLA4c.58_61dup (p.Pro21LeufsTer?)
c.130_133dup (p.Pro45LeufsTer?)
n.58_61dup
n.198_201dup
2g.203868000_203868003delinsTGGCCA1322148602CTLA4c.58_61delinsTGGC (p.Trp20=)
c.130_133delinsTGGC (p.Trp44=)
n.58_61delinsTGGC
n.198_201delinsTGGC
2g.203868001_203868003delCA763553132CTLA4c.59_61del (p.Trp20_Pro21delinsSer)
c.131_133del (p.Trp44_Pro45delinsSer)
n.59_61del
n.199_201del
 dbSNP
2g.203868002G>ACA10602845CTLA4c.60G>A (p.Trp20Ter)
c.132G>A (p.Trp44Ter)
n.60G>A
n.200G>A
 ClinVar dbSNP
2g.203868002G>CCA350137958CTLA4c.60G>C (p.Trp20Cys)
c.132G>C (p.Trp44Cys)
n.60G>C
n.200G>C
2g.203868002G=CA1322148604CTLA4c.60G= (p.Trp20=)
c.132G= (p.Trp44=)
n.60G=
n.200G=
2g.203868002G>TCA350137959CTLA4c.60G>T (p.Trp20Cys)
c.132G>T (p.Trp44Cys)
n.60G>T
n.200G>T
2g.203868003C>ACA350137962CTLA4c.61C>A (p.Pro21Thr)
c.133C>A (p.Pro45Thr)
n.61C>A
n.201C>A
 dbSNP COSMIC
2g.203868003C=CA1322148605CTLA4c.61C= (p.Pro21=)
c.133C= (p.Pro45=)
n.61C=
n.201C=
2g.203868003C>GCA350137961CTLA4c.61C>G (p.Pro21Ala)
c.133C>G (p.Pro45Ala)
n.61C>G
n.201C>G
2g.203868003C>TCA350137960CTLA4c.61C>T (p.Pro21Ser)
c.133C>T (p.Pro45Ser)
n.61C>T
n.201C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.203868004C>ACA350137963CTLA4c.62C>A (p.Pro21His)
c.134C>A (p.Pro45His)
n.62C>A
n.202C>A
 gnomAD v4
2g.203868004C=CA1322148606CTLA4c.62C= (p.Pro21=)
c.134C= (p.Pro45=)
n.62C=
n.202C=
2g.203868004C>GCA63785804CTLA4c.62C>G (p.Pro21Arg)
c.134C>G (p.Pro45Arg)
n.62C>G
n.202C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.203868004C>TCA350137964CTLA4c.62C>T (p.Pro21Leu)
c.134C>T (p.Pro45Leu)
n.62C>T
n.202C>T
2g.203868005C>ACA431020358CTLA4c.63C>A (p.Pro21=)
c.135C>A (p.Pro45=)
n.63C>A
n.203C>A
2g.203868005C=CA1322148607CTLA4c.63C= (p.Pro21=)
c.135C= (p.Pro45=)
n.63C=
n.203C=
2g.203868005C>GCA431020359CTLA4c.63C>G (p.Pro21=)
c.135C>G (p.Pro45=)
n.63C>G
n.203C>G
 dbSNP gnomAD v4
2g.203868005C>TCA431020360CTLA4c.63C>T (p.Pro21=)
c.135C>T (p.Pro45=)
n.63C>T
n.203C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.203868006T>ACA350137965CTLA4c.64T>A (p.Cys22Ser)
c.136T>A (p.Cys46Ser)
n.64T>A
n.204T>A
2g.203868006T>CCA350137966CTLA4c.64T>C (p.Cys22Arg)
c.136T>C (p.Cys46Arg)
n.64T>C
n.204T>C
2g.203868006T>GCA350137967CTLA4c.64T>G (p.Cys22Gly)
c.136T>G (p.Cys46Gly)
n.64T>G
n.204T>G
2g.203868007G>ACA350137968CTLA4c.65G>A (p.Cys22Tyr)
c.137G>A (p.Cys46Tyr)
n.65G>A
n.205G>A
2g.203868007G>CCA350137969CTLA4c.65G>C (p.Cys22Ser)
c.137G>C (p.Cys46Ser)
n.65G>C
n.205G>C
2g.203868007G=CA1322148608CTLA4c.65G= (p.Cys22=)
c.137G= (p.Cys46=)
n.65G=
n.205G=
2g.203868007G>TCA350137970CTLA4c.65G>T (p.Cys22Phe)
c.137G>T (p.Cys46Phe)
n.65G>T
n.205G>T
 dbSNP gnomAD v4
2g.203868007_203868008insTACA2561377873CTLA4c.65_66insTA (p.Leu25SerfsTer?)
c.137_138insTA (p.Leu49SerfsTer?)
n.65_66insTA
n.205_206insTA
2g.203868008C>ACA350137971CTLA4c.66C>A (p.Cys22Ter)
c.138C>A (p.Cys46Ter)
n.66C>A
n.206C>A
2g.203868008C>GCA350137972CTLA4c.66C>G (p.Cys22Trp)
c.138C>G (p.Cys46Trp)
n.66C>G
n.206C>G
2g.203868008C>TCA431020361CTLA4c.66C>T (p.Cys22=)
c.138C>T (p.Cys46=)
n.66C>T
n.206C>T
 gnomAD v4
2g.203868009A>CCA350137974CTLA4c.67A>C (p.Thr23Pro)
c.139A>C (p.Thr47Pro)
n.67A>C
n.207A>C
 gnomAD v4
2g.203868009A>GCA350137975CTLA4c.67A>G (p.Thr23Ala)
c.139A>G (p.Thr47Ala)
n.67A>G
n.207A>G
2g.203868009A>TCA350137973CTLA4c.67A>T (p.Thr23Ser)
c.139A>T (p.Thr47Ser)
n.67A>T
n.207A>T
2g.203868009_203868010insGCA2568715973CTLA4c.67_68insG (p.Thr23SerfsTer?)
c.139_140insG (p.Thr47SerfsTer?)
n.67_68insG
n.207_208insG
2g.203868010C>ACA350137976CTLA4c.68C>A (p.Thr23Asn)
c.140C>A (p.Thr47Asn)
n.68C>A
n.208C>A
 dbSNP gnomAD v3 gnomAD v4
2g.203868010C=CA1322148609CTLA4c.68C= (p.Thr23=)
c.140C= (p.Thr47=)
n.68C=
n.208C=
2g.203868010C>GCA350137977CTLA4c.68C>G (p.Thr23Ser)
c.140C>G (p.Thr47Ser)
n.68C>G
n.208C>G
2g.203868010C>TCA350137978CTLA4c.68C>T (p.Thr23Ile)
c.140C>T (p.Thr47Ile)
n.68C>T
n.208C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.203868013_203868014delCA2573320555CTLA4c.71_72del (p.Leu24ProfsTer?)
c.143_144del (p.Leu48ProfsTer?)
n.71_72del
n.211_212del
 ClinVar dbSNP
2g.203868011T>ACA431020362CTLA4c.69T>A (p.Thr23=)
c.141T>A (p.Thr47=)
n.69T>A
n.209T>A
2g.203868011T>CCA431020363CTLA4c.69T>C (p.Thr23=)
c.141T>C (p.Thr47=)
n.69T>C
n.209T>C
 dbSNP
2g.203868011T>GCA431020364CTLA4c.69T>G (p.Thr23=)
c.141T>G (p.Thr47=)
n.69T>G
n.209T>G
2g.203868011T=CA1322148610CTLA4c.69T= (p.Thr23=)
c.141T= (p.Thr47=)
n.69T=
n.209T=
2g.203868012C>ACA350137979CTLA4c.70C>A (p.Leu24Ile)
c.142C>A (p.Leu48Ile)
n.70C>A
n.210C>A
2g.203868012C>GCA350137980CTLA4c.70C>G (p.Leu24Val)
c.142C>G (p.Leu48Val)
n.70C>G
n.210C>G
2g.203868012C>TCA350137981CTLA4c.70C>T (p.Leu24Phe)
c.142C>T (p.Leu48Phe)
n.70C>T
n.210C>T
2g.203868014_203868016delCA2553788490CTLA4c.72_74del (p.Leu25del)
c.144_146del (p.Leu49del)
n.72_74del
n.212_214del
2g.203868013T>ACA350137982CTLA4c.71T>A (p.Leu24His)
c.143T>A (p.Leu48His)
n.71T>A
n.211T>A
 gnomAD v4
2g.203868013T>CCA350137983CTLA4c.71T>C (p.Leu24Pro)
c.143T>C (p.Leu48Pro)
n.71T>C
n.211T>C
 gnomAD v3 gnomAD v4

Number of alleles fetched