UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137206981A= | CA1666386388 | IFNGR1 | c.152T= (p.Val51=) c.182T= (p.Val61=) c.59T= (p.Val20=) c.*81T= (n.*81T=) c.128T= (p.Val43=) c.98T= (p.Val33=) c.125T= (p.Val42=) c.302T= (n.302T=) c.291T= n.304T= | |
| 6 | g.137206981A>C | CA148231478 | IFNGR1 | c.152T>G (p.Val51Gly) c.182T>G (p.Val61Gly) c.59T>G (p.Val20Gly) c.*81T>G (n.*81T>G) c.128T>G (p.Val43Gly) c.98T>G (p.Val33Gly) c.125T>G (p.Val42Gly) c.302T>G (n.302T>G) c.291T>G n.304T>G | dbSNP |
| 6 | g.137206981A>G | CA4019031 | IFNGR1 | c.152T>C (p.Val51Ala) c.182T>C (p.Val61Ala) c.59T>C (p.Val20Ala) c.*81T>C (n.*81T>C) c.128T>C (p.Val43Ala) c.98T>C (p.Val33Ala) c.125T>C (p.Val42Ala) c.302T>C (n.302T>C) c.291T>C n.304T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137206981A>T | CA127609 | IFNGR1 | c.152T>A (p.Val51Glu) c.182T>A (p.Val61Glu) c.59T>A (p.Val20Glu) c.*81T>A (n.*81T>A) c.128T>A (p.Val43Glu) c.98T>A (p.Val33Glu) c.125T>A (p.Val42Glu) c.302T>A (n.302T>A) c.291T>A n.304T>A | ClinVar dbSNP |
| 6 | g.137206982C>A | CA365776021 | IFNGR1 | c.151G>T (p.Val51Leu) c.181G>T (p.Val61Leu) c.58G>T (p.Val20Leu) c.*80G>T (n.*80G>T) c.127G>T (p.Val43Leu) c.97G>T (p.Val33Leu) c.124G>T (p.Val42Leu) c.301G>T (n.301G>T) c.290G>T n.303G>T | |
| 6 | g.137206982C= | CA1666386389 | IFNGR1 | c.151G= (p.Val51=) c.181G= (p.Val61=) c.58G= (p.Val20=) c.*80G= (n.*80G=) c.127G= (p.Val43=) c.97G= (p.Val33=) c.124G= (p.Val42=) c.301G= (n.301G=) c.290G= n.303G= | |
| 6 | g.137206982C>G | CA365776022 | IFNGR1 | c.151G>C (p.Val51Leu) c.181G>C (p.Val61Leu) c.58G>C (p.Val20Leu) c.*80G>C (n.*80G>C) c.127G>C (p.Val43Leu) c.97G>C (p.Val33Leu) c.124G>C (p.Val42Leu) c.301G>C (n.301G>C) c.290G>C n.303G>C | |
| 6 | g.137206982C>T | CA4019032 | IFNGR1 | c.151G>A (p.Val51Ile) c.181G>A (p.Val61Ile) c.58G>A (p.Val20Ile) c.*80G>A (n.*80G>A) c.127G>A (p.Val43Ile) c.97G>A (p.Val33Ile) c.124G>A (p.Val42Ile) c.301G>A (n.301G>A) c.290G>A n.303G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137206983G>A | CA4019033 | IFNGR1 | c.150C>T (p.Thr50=) c.180C>T (p.Thr60=) c.57C>T (p.Thr19=) c.*79C>T (n.*79C>T) c.126C>T (p.Thr42=) c.96C>T (p.Thr32=) c.123C>T (p.Thr41=) c.300C>T (n.300C>T) c.289C>T n.302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.137206983G>C | CA452237004 | IFNGR1 | c.150C>G (p.Thr50=) c.180C>G (p.Thr60=) c.57C>G (p.Thr19=) c.*79C>G (n.*79C>G) c.126C>G (p.Thr42=) c.96C>G (p.Thr32=) c.123C>G (p.Thr41=) c.300C>G (n.300C>G) c.289C>G n.302C>G | |
| 6 | g.137206983G= | CA1666386390 | IFNGR1 | c.150C= (p.Thr50=) c.180C= (p.Thr60=) c.57C= (p.Thr19=) c.*79C= (n.*79C=) c.126C= (p.Thr42=) c.96C= (p.Thr32=) c.123C= (p.Thr41=) c.300C= (n.300C=) c.289C= n.302C= | |
| 6 | g.137206983G>T | CA452237005 | IFNGR1 | c.150C>A (p.Thr50=) c.180C>A (p.Thr60=) c.57C>A (p.Thr19=) c.*79C>A (n.*79C>A) c.126C>A (p.Thr42=) c.96C>A (p.Thr32=) c.123C>A (p.Thr41=) c.300C>A (n.300C>A) c.289C>A n.302C>A | ClinVar dbSNP |
| 6 | g.137206984del | CA2680500572 | IFNGR1 | c.150del (p.Val51Ter) c.180del (p.Val61Ter) c.57del (p.Val20Ter) c.*79del (n.*79del) c.126del (p.Val43Ter) c.96del (p.Val33Ter) c.123del (p.Val42Ter) c.300del (n.300del) c.289del n.302del | gnomAD v4 |
| 6 | g.137206983_137206984insTTGATGTTCCTTATAAATCATTCGATGATTAGGAGTAACTACTTGTTCCCATCTAGAATTTATATAATGGTGAGATTCTAAAGTAGGTTTCTTGACTACCCTACTAGGATTTACCCATGAATTACTTCC | CA2563079451 | IFNGR1 | c.149_150insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr51GlufsTer6) c.179_180insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr61GlufsTer6) c.56_57insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr20GlufsTer6) c.*78_*79insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (n.*78_*79insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA) c.125_126insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr43GlufsTer6) c.95_96insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr33GlufsTer6) c.122_123insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (p.Thr42GlufsTer6) c.299_300insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA (n.299_300insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA) c.288_289insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA n.301_302insGGAAGTAATTCATGGGTAAATCCTAGTAGGGTAGTCAAGAAACCTACTTTAGAATCTCACCATTATATAAATTCTAGATGGGAACAAGTAGTTACTCCTAATCATCGAATGATTTATAAGGAACATCAA | |
| 6 | g.137206984G>A | CA365776023 | IFNGR1 | c.149C>T (p.Thr50Ile) c.179C>T (p.Thr60Ile) c.56C>T (p.Thr19Ile) c.*78C>T (n.*78C>T) c.125C>T (p.Thr42Ile) c.95C>T (p.Thr32Ile) c.122C>T (p.Thr41Ile) c.299C>T (n.299C>T) c.288C>T n.301C>T | dbSNP |
| 6 | g.137206984G>C | CA365776024 | IFNGR1 | c.149C>G (p.Thr50Ser) c.179C>G (p.Thr60Ser) c.56C>G (p.Thr19Ser) c.*78C>G (n.*78C>G) c.125C>G (p.Thr42Ser) c.95C>G (p.Thr32Ser) c.122C>G (p.Thr41Ser) c.299C>G (n.299C>G) c.288C>G n.301C>G | |
| 6 | g.137206984G= | CA1666386391 | IFNGR1 | c.149C= (p.Thr50=) c.179C= (p.Thr60=) c.56C= (p.Thr19=) c.*78C= (n.*78C=) c.125C= (p.Thr42=) c.95C= (p.Thr32=) c.122C= (p.Thr41=) c.299C= (n.299C=) c.288C= n.301C= | |
| 6 | g.137206984G>T | CA365776025 | IFNGR1 | c.149C>A (p.Thr50Asn) c.179C>A (p.Thr60Asn) c.56C>A (p.Thr19Asn) c.*78C>A (n.*78C>A) c.125C>A (p.Thr42Asn) c.95C>A (p.Thr32Asn) c.122C>A (p.Thr41Asn) c.299C>A (n.299C>A) c.288C>A n.301C>A | |
| 6 | g.137206985T>A | CA365776026 | IFNGR1 | c.148A>T (p.Thr50Ser) c.178A>T (p.Thr60Ser) c.55A>T (p.Thr19Ser) c.*77A>T (n.*77A>T) c.124A>T (p.Thr42Ser) c.94A>T (p.Thr32Ser) c.121A>T (p.Thr41Ser) c.298A>T (n.298A>T) c.287A>T n.300A>T | |
| 6 | g.137206985T>C | CA365776028 | IFNGR1 | c.148A>G (p.Thr50Ala) c.178A>G (p.Thr60Ala) c.55A>G (p.Thr19Ala) c.*77A>G (n.*77A>G) c.124A>G (p.Thr42Ala) c.94A>G (p.Thr32Ala) c.121A>G (p.Thr41Ala) c.298A>G (n.298A>G) c.287A>G n.300A>G | |
| 6 | g.137206985T>G | CA365776027 | IFNGR1 | c.148A>C (p.Thr50Pro) c.178A>C (p.Thr60Pro) c.55A>C (p.Thr19Pro) c.*77A>C (n.*77A>C) c.124A>C (p.Thr42Pro) c.94A>C (p.Thr32Pro) c.121A>C (p.Thr41Pro) c.298A>C (n.298A>C) c.287A>C n.300A>C | |
| 6 | g.137206986A>C | CA365776029 | IFNGR1 | c.147T>G (p.Phe49Leu) c.177T>G (p.Phe59Leu) c.54T>G (p.Phe18Leu) c.*76T>G (n.*76T>G) c.123T>G (p.Phe41Leu) c.93T>G (p.Phe31Leu) c.120T>G (p.Phe40Leu) c.297T>G (n.297T>G) c.286T>G n.299T>G | |
| 6 | g.137206986A>G | CA452237006 | IFNGR1 | c.147T>C (p.Phe49=) c.177T>C (p.Phe59=) c.54T>C (p.Phe18=) c.*76T>C (n.*76T>C) c.123T>C (p.Phe41=) c.93T>C (p.Phe31=) c.120T>C (p.Phe40=) c.297T>C (n.297T>C) c.286T>C n.299T>C | |
| 6 | g.137206986A>T | CA365776030 | IFNGR1 | c.147T>A (p.Phe49Leu) c.177T>A (p.Phe59Leu) c.54T>A (p.Phe18Leu) c.*76T>A (n.*76T>A) c.123T>A (p.Phe41Leu) c.93T>A (p.Phe31Leu) c.120T>A (p.Phe40Leu) c.297T>A (n.297T>A) c.286T>A n.299T>A | |
| 6 | g.137206987A>C | CA365776031 | IFNGR1 | c.146T>G (p.Phe49Cys) c.176T>G (p.Phe59Cys) c.53T>G (p.Phe18Cys) c.*75T>G (n.*75T>G) c.122T>G (p.Phe41Cys) c.92T>G (p.Phe31Cys) c.119T>G (p.Phe40Cys) c.296T>G (n.296T>G) c.285T>G n.298T>G | |
| 6 | g.137206987A>G | CA365776032 | IFNGR1 | c.146T>C (p.Phe49Ser) c.176T>C (p.Phe59Ser) c.53T>C (p.Phe18Ser) c.*75T>C (n.*75T>C) c.122T>C (p.Phe41Ser) c.92T>C (p.Phe31Ser) c.119T>C (p.Phe40Ser) c.296T>C (n.296T>C) c.285T>C n.298T>C | |
| 6 | g.137206987A>T | CA365776033 | IFNGR1 | c.146T>A (p.Phe49Tyr) c.176T>A (p.Phe59Tyr) c.53T>A (p.Phe18Tyr) c.*75T>A (n.*75T>A) c.122T>A (p.Phe41Tyr) c.92T>A (p.Phe31Tyr) c.119T>A (p.Phe40Tyr) c.296T>A (n.296T>A) c.285T>A n.298T>A | |
| 6 | g.137206988A>C | CA365776034 | IFNGR1 | c.145T>G (p.Phe49Val) c.175T>G (p.Phe59Val) c.52T>G (p.Phe18Val) c.*74T>G (n.*74T>G) c.121T>G (p.Phe41Val) c.91T>G (p.Phe31Val) c.118T>G (p.Phe40Val) c.295T>G (n.295T>G) c.284T>G n.297T>G | |
| 6 | g.137206988A>G | CA365776035 | IFNGR1 | c.145T>C (p.Phe49Leu) c.175T>C (p.Phe59Leu) c.52T>C (p.Phe18Leu) c.*74T>C (n.*74T>C) c.121T>C (p.Phe41Leu) c.91T>C (p.Phe31Leu) c.118T>C (p.Phe40Leu) c.295T>C (n.295T>C) c.284T>C n.297T>C | |
| 6 | g.137206988A>T | CA365776036 | IFNGR1 | c.145T>A (p.Phe49Ile) c.175T>A (p.Phe59Ile) c.52T>A (p.Phe18Ile) c.*74T>A (n.*74T>A) c.121T>A (p.Phe41Ile) c.91T>A (p.Phe31Ile) c.118T>A (p.Phe40Ile) c.295T>A (n.295T>A) c.284T>A n.297T>A | |
| 6 | g.137206989A>C | CA452237007 | IFNGR1 | c.144T>G (p.Val48=) c.174T>G (p.Val58=) c.51T>G (p.Val17=) c.*73T>G (n.*73T>G) c.120T>G (p.Val40=) c.90T>G (p.Val30=) c.117T>G (p.Val39=) c.294T>G (n.294T>G) c.283T>G n.296T>G | |
| 6 | g.137206989A>G | CA452237008 | IFNGR1 | c.144T>C (p.Val48=) c.174T>C (p.Val58=) c.51T>C (p.Val17=) c.*73T>C (n.*73T>C) c.120T>C (p.Val40=) c.90T>C (p.Val30=) c.117T>C (p.Val39=) c.294T>C (n.294T>C) c.283T>C n.296T>C | |
| 6 | g.137206989A>T | CA452237009 | IFNGR1 | c.144T>A (p.Val48=) c.174T>A (p.Val58=) c.51T>A (p.Val17=) c.*73T>A (n.*73T>A) c.120T>A (p.Val40=) c.90T>A (p.Val30=) c.117T>A (p.Val39=) c.294T>A (n.294T>A) c.283T>A n.296T>A | |
| 6 | g.137206990A>C | CA365776039 | IFNGR1 | c.143T>G (p.Val48Gly) c.173T>G (p.Val58Gly) c.50T>G (p.Val17Gly) c.*72T>G (n.*72T>G) c.119T>G (p.Val40Gly) c.89T>G (p.Val30Gly) c.116T>G (p.Val39Gly) c.293T>G (n.293T>G) c.282T>G n.295T>G | |
| 6 | g.137206990A>G | CA365776038 | IFNGR1 | c.143T>C (p.Val48Ala) c.173T>C (p.Val58Ala) c.50T>C (p.Val17Ala) c.*72T>C (n.*72T>C) c.119T>C (p.Val40Ala) c.89T>C (p.Val30Ala) c.116T>C (p.Val39Ala) c.293T>C (n.293T>C) c.282T>C n.295T>C | |
| 6 | g.137206990A>T | CA365776037 | IFNGR1 | c.143T>A (p.Val48Asp) c.173T>A (p.Val58Asp) c.50T>A (p.Val17Asp) c.*72T>A (n.*72T>A) c.119T>A (p.Val40Asp) c.89T>A (p.Val30Asp) c.116T>A (p.Val39Asp) c.293T>A (n.293T>A) c.282T>A n.295T>A | |
| 6 | g.137206991C>A | CA365776040 | IFNGR1 | c.142G>T (p.Val48Phe) c.172G>T (p.Val58Phe) c.49G>T (p.Val17Phe) c.*71G>T (n.*71G>T) c.118G>T (p.Val40Phe) c.88G>T (p.Val30Phe) c.115G>T (p.Val39Phe) c.292G>T (n.292G>T) c.281G>T n.294G>T | |
| 6 | g.137206991C>G | CA365776041 | IFNGR1 | c.142G>C (p.Val48Leu) c.172G>C (p.Val58Leu) c.49G>C (p.Val17Leu) c.*71G>C (n.*71G>C) c.118G>C (p.Val40Leu) c.88G>C (p.Val30Leu) c.115G>C (p.Val39Leu) c.292G>C (n.292G>C) c.281G>C n.294G>C | |
| 6 | g.137206991C>T | CA365776042 | IFNGR1 | c.142G>A (p.Val48Ile) c.172G>A (p.Val58Ile) c.49G>A (p.Val17Ile) c.*71G>A (n.*71G>A) c.118G>A (p.Val40Ile) c.88G>A (p.Val30Ile) c.115G>A (p.Val39Ile) c.292G>A (n.292G>A) c.281G>A n.294G>A | |
| 6 | g.137206992A>C | CA452237010 | IFNGR1 | c.141T>G (p.Pro47=) c.171T>G (p.Pro57=) c.48T>G (p.Pro16=) c.*70T>G (n.*70T>G) c.117T>G (p.Pro39=) c.87T>G (p.Pro29=) c.114T>G (p.Pro38=) c.291T>G (n.291T>G) c.280T>G n.293T>G | gnomAD v4 |
| 6 | g.137206992A>G | CA452237011 | IFNGR1 | c.141T>C (p.Pro47=) c.171T>C (p.Pro57=) c.48T>C (p.Pro16=) c.*70T>C (n.*70T>C) c.117T>C (p.Pro39=) c.87T>C (p.Pro29=) c.114T>C (p.Pro38=) c.291T>C (n.291T>C) c.280T>C n.293T>C | |
| 6 | g.137206992A>T | CA452237012 | IFNGR1 | c.141T>A (p.Pro47=) c.171T>A (p.Pro57=) c.48T>A (p.Pro16=) c.*70T>A (n.*70T>A) c.117T>A (p.Pro39=) c.87T>A (p.Pro29=) c.114T>A (p.Pro38=) c.291T>A (n.291T>A) c.280T>A n.293T>A | |
| 6 | g.137206993G>A | CA365776043 | IFNGR1 | c.140C>T (p.Pro47Leu) c.170C>T (p.Pro57Leu) c.47C>T (p.Pro16Leu) c.*69C>T (n.*69C>T) c.116C>T (p.Pro39Leu) c.86C>T (p.Pro29Leu) c.113C>T (p.Pro38Leu) c.290C>T (n.290C>T) c.279C>T n.292C>T | |
| 6 | g.137206993G>C | CA365776044 | IFNGR1 | c.140C>G (p.Pro47Arg) c.170C>G (p.Pro57Arg) c.47C>G (p.Pro16Arg) c.*69C>G (n.*69C>G) c.116C>G (p.Pro39Arg) c.86C>G (p.Pro29Arg) c.113C>G (p.Pro38Arg) c.290C>G (n.290C>G) c.279C>G n.292C>G | ClinVar |
| 6 | g.137206993G>T | CA365776045 | IFNGR1 | c.140C>A (p.Pro47His) c.170C>A (p.Pro57His) c.47C>A (p.Pro16His) c.*69C>A (n.*69C>A) c.116C>A (p.Pro39His) c.86C>A (p.Pro29His) c.113C>A (p.Pro38His) c.290C>A (n.290C>A) c.279C>A n.292C>A | |
| 6 | g.137206995del | CA2695207100 | IFNGR1 | c.140del (p.Pro47LeufsTer5) c.170del (p.Pro57LeufsTer5) c.47del (p.Pro16LeufsTer5) c.*69del (n.*69del) c.116del (p.Pro39LeufsTer5) c.86del (p.Pro29LeufsTer5) c.113del (p.Pro38LeufsTer5) c.290del (n.290del) c.279del n.292del | |
| 6 | g.137206994G>A | CA365776046 | IFNGR1 | c.139C>T (p.Pro47Ser) c.169C>T (p.Pro57Ser) c.46C>T (p.Pro16Ser) c.*68C>T (n.*68C>T) c.115C>T (p.Pro39Ser) c.85C>T (p.Pro29Ser) c.112C>T (p.Pro38Ser) c.289C>T (n.289C>T) c.278C>T n.291C>T | dbSNP |
| 6 | g.137206994G>C | CA365776048 | IFNGR1 | c.139C>G (p.Pro47Ala) c.169C>G (p.Pro57Ala) c.46C>G (p.Pro16Ala) c.*68C>G (n.*68C>G) c.115C>G (p.Pro39Ala) c.85C>G (p.Pro29Ala) c.112C>G (p.Pro38Ala) c.289C>G (n.289C>G) c.278C>G n.291C>G | dbSNP gnomAD v4 |
| 6 | g.137206994G= | CA1666386392 | IFNGR1 | c.139C= (p.Pro47=) c.169C= (p.Pro57=) c.46C= (p.Pro16=) c.*68C= (n.*68C=) c.115C= (p.Pro39=) c.85C= (p.Pro29=) c.112C= (p.Pro38=) c.289C= (n.289C=) c.278C= n.291C= | |
| 6 | g.137206994G>T | CA365776047 | IFNGR1 | c.139C>A (p.Pro47Thr) c.169C>A (p.Pro57Thr) c.46C>A (p.Pro16Thr) c.*68C>A (n.*68C>A) c.115C>A (p.Pro39Thr) c.85C>A (p.Pro29Thr) c.112C>A (p.Pro38Thr) c.289C>A (n.289C>A) c.278C>A n.291C>A |