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 |
|---|---|---|---|---|---|
| 5 | g.156508606A>C | CA447387896 | SGCD | c.198A>C (p.Gly66=) c.195A>C (p.Gly65=) c.*62A>C (n.*62A>C) | |
| 5 | g.156508606A>G | CA447387898 | SGCD | c.198A>G (p.Gly66=) c.195A>G (p.Gly65=) c.*62A>G (n.*62A>G) | |
| 5 | g.156508606A>T | CA447387897 | SGCD | c.198A>T (p.Gly66=) c.195A>T (p.Gly65=) c.*62A>T (n.*62A>T) | |
| 5 | g.156508607A>C | CA362007929 | SGCD | c.199A>C (p.Met67Leu) c.196A>C (p.Met66Leu) c.*63A>C (n.*63A>C) | |
| 5 | g.156508607A>G | CA362007928 | SGCD | c.199A>G (p.Met67Val) c.196A>G (p.Met66Val) c.*63A>G (n.*63A>G) | gnomAD v4 |
| 5 | g.156508607A>T | CA362007927 | SGCD | c.199A>T (p.Met67Leu) c.196A>T (p.Met66Leu) c.*63A>T (n.*63A>T) | |
| 5 | g.156508608T>A | CA362007930 | SGCD | c.200T>A (p.Met67Lys) c.197T>A (p.Met66Lys) c.*64T>A (n.*64T>A) | |
| 5 | g.156508608T>C | CA362007931 | SGCD | c.200T>C (p.Met67Thr) c.197T>C (p.Met66Thr) c.*64T>C (n.*64T>C) | |
| 5 | g.156508608T>G | CA362007932 | SGCD | c.200T>G (p.Met67Arg) c.197T>G (p.Met66Arg) c.*64T>G (n.*64T>G) | |
| 5 | g.156508609G>A | CA362007933 | SGCD | c.201G>A (p.Met67Ile) c.198G>A (p.Met66Ile) c.*65G>A (n.*65G>A) | |
| 5 | g.156508609G>C | CA362007934 | SGCD | c.201G>C (p.Met67Ile) c.198G>C (p.Met66Ile) c.*65G>C (n.*65G>C) | |
| 5 | g.156508609G>T | CA362007935 | SGCD | c.201G>T (p.Met67Ile) c.198G>T (p.Met66Ile) c.*65G>T (n.*65G>T) | |
| 5 | g.156508610G>A | CA362007936 | SGCD | c.202G>A (p.Gly68Arg) c.199G>A (p.Gly67Arg) c.*66G>A (n.*66G>A) | gnomAD v4 |
| 5 | g.156508610G>C | CA362007937 | SGCD | c.202G>C (p.Gly68Arg) c.199G>C (p.Gly67Arg) c.*66G>C (n.*66G>C) | |
| 5 | g.156508610G>T | CA362007938 | SGCD | c.202G>T (p.Gly68Ter) c.199G>T (p.Gly67Ter) c.*66G>T (n.*66G>T) | |
| 5 | g.156508611G>A | CA362007940 | SGCD | c.203G>A (p.Gly68Glu) c.200G>A (p.Gly67Glu) c.*67G>A (n.*67G>A) | |
| 5 | g.156508611G>C | CA3530537 | SGCD | c.203G>C (p.Gly68Ala) c.200G>C (p.Gly67Ala) c.*67G>C (n.*67G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156508611G= | CA1593738823 | SGCD | c.203G= (p.Gly68=) c.200G= (p.Gly67=) c.*67G= (n.*67G=) | |
| 5 | g.156508611G>T | CA362007939 | SGCD | c.203G>T (p.Gly68Val) c.200G>T (p.Gly67Val) c.*67G>T (n.*67G>T) | |
| 5 | g.156508612A= | CA1593738824 | SGCD | c.204A= (p.Gly68=) c.201A= (p.Gly67=) c.*68A= (n.*68A=) | |
| 5 | g.156508612A>C | CA447387901 | SGCD | c.204A>C (p.Gly68=) c.201A>C (p.Gly67=) c.*68A>C (n.*68A>C) | |
| 5 | g.156508612A>G | CA447387899 | SGCD | c.204A>G (p.Gly68=) c.201A>G (p.Gly67=) c.*68A>G (n.*68A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156508612A>T | CA447387900 | SGCD | c.204A>T (p.Gly68=) c.201A>T (p.Gly67=) c.*68A>T (n.*68A>T) | |
| 5 | g.156508613A>C | CA362007943 | SGCD | c.205A>C (p.Asn69His) c.202A>C (p.Asn68His) c.*69A>C (n.*69A>C) | |
| 5 | g.156508613A>G | CA362007941 | SGCD | c.205A>G (p.Asn69Asp) c.202A>G (p.Asn68Asp) c.*69A>G (n.*69A>G) | |
| 5 | g.156508613A>T | CA362007942 | SGCD | c.205A>T (p.Asn69Tyr) c.202A>T (p.Asn68Tyr) c.*69A>T (n.*69A>T) | |
| 5 | g.156508614A= | CA1593738825 | SGCD | c.206A= (p.Asn69=) c.203A= (p.Asn68=) c.*70A= (n.*70A=) | |
| 5 | g.156508614A>C | CA362007944 | SGCD | c.206A>C (p.Asn69Thr) c.203A>C (p.Asn68Thr) c.*70A>C (n.*70A>C) | |
| 5 | g.156508614A>G | CA362007945 | SGCD | c.206A>G (p.Asn69Ser) c.203A>G (p.Asn68Ser) c.*70A>G (n.*70A>G) | |
| 5 | g.156508614A>T | CA362007946 | SGCD | c.206A>T (p.Asn69Ile) c.203A>T (p.Asn68Ile) c.*70A>T (n.*70A>T) | |
| 5 | g.156508614_156508615insT | CA563931213 | SGCD | c.206_207insT (p.Leu70ProfsTer15) c.203_204insT (p.Leu69ProfsTer15) c.*70_*71insT (n.*70_*71insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156508615C>A | CA362007947 | SGCD | c.207C>A (p.Asn69Lys) c.204C>A (p.Asn68Lys) c.*71C>A (n.*71C>A) | |
| 5 | g.156508615C= | CA1593738826 | SGCD | c.207C= (p.Asn69=) c.204C= (p.Asn68=) c.*71C= (n.*71C=) | |
| 5 | g.156508615C>G | CA362007948 | SGCD | c.207C>G (p.Asn69Lys) c.204C>G (p.Asn68Lys) c.*71C>G (n.*71C>G) | |
| 5 | g.156508615C>T | CA447387902 | SGCD | c.207C>T (p.Asn69=) c.204C>T (p.Asn68=) c.*71C>T (n.*71C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156508616C>A | CA362007949 | SGCD | c.208C>A (p.Leu70Met) c.205C>A (p.Leu69Met) c.*72C>A (n.*72C>A) | gnomAD v4 |
| 5 | g.156508616C>G | CA362007950 | SGCD | c.208C>G (p.Leu70Val) c.205C>G (p.Leu69Val) c.*72C>G (n.*72C>G) | |
| 5 | g.156508616C>T | CA447387903 | SGCD | c.208C>T (p.Leu70=) c.205C>T (p.Leu69=) c.*72C>T (n.*72C>T) | |
| 5 | g.156508616_156508618delinsGT | CA2580073935 | SGCD | c.208_210delinsGT (p.Leu70ValfsTer8) c.205_207delinsGT (p.Leu69ValfsTer8) c.*72_*74delinsGT (n.*72_*74delinsGT) | ClinVar |
| 5 | g.156508617T>A | CA362007953 | SGCD | c.209T>A (p.Leu70Gln) c.206T>A (p.Leu69Gln) c.*73T>A (n.*73T>A) | |
| 5 | g.156508617T>C | CA362007952 | SGCD | c.209T>C (p.Leu70Pro) c.206T>C (p.Leu69Pro) c.*73T>C (n.*73T>C) | ClinVar dbSNP COSMIC |
| 5 | g.156508617T>G | CA362007951 | SGCD | c.209T>G (p.Leu70Arg) c.206T>G (p.Leu69Arg) c.*73T>G (n.*73T>G) | |
| 5 | g.156508617T= | CA1593738827 | SGCD | c.209T= (p.Leu70=) c.206T= (p.Leu69=) c.*73T= (n.*73T=) | |
| 5 | g.156508618G>A | CA447387906 | SGCD | c.210G>A (p.Leu70=) c.207G>A (p.Leu69=) c.*74G>A (n.*74G>A) | |
| 5 | g.156508618G>C | CA447387904 | SGCD | c.210G>C (p.Leu70=) c.207G>C (p.Leu69=) c.*74G>C (n.*74G>C) | |
| 5 | g.156508618G>T | CA447387905 | SGCD | c.210G>T (p.Leu70=) c.207G>T (p.Leu69=) c.*74G>T (n.*74G>T) | |
| 5 | g.156508619A>C | CA447387907 | SGCD | c.211A>C (p.Arg71=) c.208A>C (p.Arg70=) c.*75A>C (n.*75A>C) | |
| 5 | g.156508619A>G | CA362007954 | SGCD | c.211A>G (p.Arg71Gly) c.208A>G (p.Arg70Gly) c.*75A>G (n.*75A>G) | |
| 5 | g.156508619A>T | CA362007955 | SGCD | c.211A>T (p.Arg71Trp) c.208A>T (p.Arg70Trp) c.*75A>T (n.*75A>T) | |
| 5 | g.156508619_156508620delinsAG | CA1593738828 | SGCD | c.211_212delinsAG (p.Arg71=) c.208_209delinsAG (p.Arg70=) c.*75_*76delinsAG (n.*75_*76delinsAG) |