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 |
|---|---|---|---|---|---|
| 1 | g.171114119del | CA2649082759 | FMO3 | c.940del (p.Glu314ArgfsTer12) c.751del (p.Glu251ArgfsTer12) c.880del (p.Glu294ArgfsTer12) c.193del (p.Glu65ArgfsTer12) | gnomAD v4 |
| 1 | g.171114119G>A | CA1240703 | FMO3 | c.940G>A (p.Glu314Lys) c.751G>A (p.Glu251Lys) c.880G>A (p.Glu294Lys) c.193G>A (p.Glu65Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171114119G>C | CA343187721 | FMO3 | c.940G>C (p.Glu314Gln) c.751G>C (p.Glu251Gln) c.880G>C (p.Glu294Gln) c.193G>C (p.Glu65Gln) | COSMIC |
| 1 | g.171114119G= | CA1140803248 | FMO3 | c.940G= (p.Glu314=) c.751G= (p.Glu251=) c.880G= (p.Glu294=) c.193G= (p.Glu65=) | |
| 1 | g.171114119G>T | CA257486 | FMO3 | c.940G>T (p.Glu314Ter) c.751G>T (p.Glu251Ter) c.880G>T (p.Glu294Ter) c.193G>T (p.Glu65Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171114120A>C | CA343187722 | FMO3 | c.941A>C (p.Glu314Ala) c.752A>C (p.Glu251Ala) c.881A>C (p.Glu294Ala) c.194A>C (p.Glu65Ala) | |
| 1 | g.171114120A>G | CA343187723 | FMO3 | c.941A>G (p.Glu314Gly) c.752A>G (p.Glu251Gly) c.881A>G (p.Glu294Gly) c.194A>G (p.Glu65Gly) | |
| 1 | g.171114120A>T | CA343187724 | FMO3 | c.941A>T (p.Glu314Val) c.752A>T (p.Glu251Val) c.881A>T (p.Glu294Val) c.194A>T (p.Glu65Val) | |
| 1 | g.171114121G>A | CA421933895 | FMO3 | c.942G>A (p.Glu314=) c.753G>A (p.Glu251=) c.882G>A (p.Glu294=) c.195G>A (p.Glu65=) | |
| 1 | g.171114121G>C | CA343187725 | FMO3 | c.942G>C (p.Glu314Asp) c.753G>C (p.Glu251Asp) c.882G>C (p.Glu294Asp) c.195G>C (p.Glu65Asp) | |
| 1 | g.171114121G>T | CA343187726 | FMO3 | c.942G>T (p.Glu314Asp) c.753G>T (p.Glu251Asp) c.882G>T (p.Glu294Asp) c.195G>T (p.Glu65Asp) | |
| 1 | g.171114122G>A | CA343187727 | FMO3 | c.943G>A (p.Asp315Asn) c.754G>A (p.Asp252Asn) c.883G>A (p.Asp295Asn) c.196G>A (p.Asp66Asn) | dbSNP |
| 1 | g.171114122G>C | CA343187728 | FMO3 | c.943G>C (p.Asp315His) c.754G>C (p.Asp252His) c.883G>C (p.Asp295His) c.196G>C (p.Asp66His) | |
| 1 | g.171114122G>T | CA343187729 | FMO3 | c.943G>T (p.Asp315Tyr) c.754G>T (p.Asp252Tyr) c.883G>T (p.Asp295Tyr) c.196G>T (p.Asp66Tyr) | gnomAD v4 |
| 1 | g.171114123A>C | CA343187730 | FMO3 | c.944A>C (p.Asp315Ala) c.755A>C (p.Asp252Ala) c.884A>C (p.Asp295Ala) c.197A>C (p.Asp66Ala) | |
| 1 | g.171114123A>G | CA343187731 | FMO3 | c.944A>G (p.Asp315Gly) c.755A>G (p.Asp252Gly) c.884A>G (p.Asp295Gly) c.197A>G (p.Asp66Gly) | |
| 1 | g.171114123A>T | CA343187732 | FMO3 | c.944A>T (p.Asp315Val) c.755A>T (p.Asp252Val) c.884A>T (p.Asp295Val) c.197A>T (p.Asp66Val) | |
| 1 | g.171114124T>A | CA343187733 | FMO3 | c.945T>A (p.Asp315Glu) c.756T>A (p.Asp252Glu) c.885T>A (p.Asp295Glu) c.198T>A (p.Asp66Glu) | gnomAD v4 |
| 1 | g.171114124T>C | CA421933900 | FMO3 | c.945T>C (p.Asp315=) c.756T>C (p.Asp252=) c.885T>C (p.Asp295=) c.198T>C (p.Asp66=) | gnomAD v4 |
| 1 | g.171114124T>G | CA343187734 | FMO3 | c.945T>G (p.Asp315Glu) c.756T>G (p.Asp252Glu) c.885T>G (p.Asp295Glu) c.198T>G (p.Asp66Glu) | |
| 1 | g.171114125G>A | CA343187737 | FMO3 | c.946G>A (p.Gly316Arg) c.757G>A (p.Gly253Arg) c.886G>A (p.Gly296Arg) c.199G>A (p.Gly67Arg) | |
| 1 | g.171114125G>C | CA343187735 | FMO3 | c.946G>C (p.Gly316Arg) c.757G>C (p.Gly253Arg) c.886G>C (p.Gly296Arg) c.199G>C (p.Gly67Arg) | |
| 1 | g.171114125G>T | CA343187736 | FMO3 | c.946G>T (p.Gly316Trp) c.757G>T (p.Gly253Trp) c.886G>T (p.Gly296Trp) c.199G>T (p.Gly67Trp) | |
| 1 | g.171114126G>A | CA343187738 | FMO3 | c.947G>A (p.Gly316Glu) c.758G>A (p.Gly253Glu) c.887G>A (p.Gly296Glu) c.200G>A (p.Gly67Glu) | |
| 1 | g.171114126G>C | CA343187739 | FMO3 | c.947G>C (p.Gly316Ala) c.758G>C (p.Gly253Ala) c.887G>C (p.Gly296Ala) c.200G>C (p.Gly67Ala) | |
| 1 | g.171114126G>T | CA343187740 | FMO3 | c.947G>T (p.Gly316Val) c.758G>T (p.Gly253Val) c.887G>T (p.Gly296Val) c.200G>T (p.Gly67Val) | |
| 1 | g.171114127G>A | CA421933905 | FMO3 | c.948G>A (p.Gly316=) c.759G>A (p.Gly253=) c.888G>A (p.Gly296=) c.201G>A (p.Gly67=) | |
| 1 | g.171114127G>C | CA421933906 | FMO3 | c.948G>C (p.Gly316=) c.759G>C (p.Gly253=) c.888G>C (p.Gly296=) c.201G>C (p.Gly67=) | COSMIC |
| 1 | g.171114127G>T | CA421933907 | FMO3 | c.948G>T (p.Gly316=) c.759G>T (p.Gly253=) c.888G>T (p.Gly296=) c.201G>T (p.Gly67=) | gnomAD v4 |
| 1 | g.171114128A>C | CA343187741 | FMO3 | c.949A>C (p.Thr317Pro) c.760A>C (p.Thr254Pro) c.889A>C (p.Thr297Pro) c.202A>C (p.Thr68Pro) | |
| 1 | g.171114128A>G | CA343187742 | FMO3 | c.949A>G (p.Thr317Ala) c.760A>G (p.Thr254Ala) c.889A>G (p.Thr297Ala) c.202A>G (p.Thr68Ala) | |
| 1 | g.171114128A>T | CA343187743 | FMO3 | c.949A>T (p.Thr317Ser) c.760A>T (p.Thr254Ser) c.889A>T (p.Thr297Ser) c.202A>T (p.Thr68Ser) | |
| 1 | g.171114129C>A | CA1240704 | FMO3 | c.950C>A (p.Thr317Asn) c.761C>A (p.Thr254Asn) c.890C>A (p.Thr297Asn) c.203C>A (p.Thr68Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171114129C= | CA1206797046 | FMO3 | c.950C= (p.Thr317=) c.761C= (p.Thr254=) c.890C= (p.Thr297=) c.203C= (p.Thr68=) | |
| 1 | g.171114129C>G | CA343187744 | FMO3 | c.950C>G (p.Thr317Ser) c.761C>G (p.Thr254Ser) c.890C>G (p.Thr297Ser) c.203C>G (p.Thr68Ser) | |
| 1 | g.171114129C>T | CA343187745 | FMO3 | c.950C>T (p.Thr317Ile) c.761C>T (p.Thr254Ile) c.890C>T (p.Thr297Ile) c.203C>T (p.Thr68Ile) | |
| 1 | g.171114130C>A | CA421933909 | FMO3 | c.951C>A (p.Thr317=) c.762C>A (p.Thr254=) c.891C>A (p.Thr297=) c.204C>A (p.Thr68=) | dbSNP |
| 1 | g.171114130C= | CA1206797047 | FMO3 | c.951C= (p.Thr317=) c.762C= (p.Thr254=) c.891C= (p.Thr297=) c.204C= (p.Thr68=) | |
| 1 | g.171114130C>G | CA421933911 | FMO3 | c.951C>G (p.Thr317=) c.762C>G (p.Thr254=) c.891C>G (p.Thr297=) c.204C>G (p.Thr68=) | |
| 1 | g.171114130C>T | CA421933913 | FMO3 | c.951C>T (p.Thr317=) c.762C>T (p.Thr254=) c.891C>T (p.Thr297=) c.204C>T (p.Thr68=) | ClinVar gnomAD v4 |
| 1 | g.171114131A>C | CA343187746 | FMO3 | c.952A>C (p.Ile318Leu) c.763A>C (p.Ile255Leu) c.892A>C (p.Ile298Leu) c.205A>C (p.Ile69Leu) | gnomAD v4 |
| 1 | g.171114131A>G | CA343187747 | FMO3 | c.952A>G (p.Ile318Val) c.763A>G (p.Ile255Val) c.892A>G (p.Ile298Val) c.205A>G (p.Ile69Val) | gnomAD v4 |
| 1 | g.171114131A>T | CA343187748 | FMO3 | c.952A>T (p.Ile318Leu) c.763A>T (p.Ile255Leu) c.892A>T (p.Ile298Leu) c.205A>T (p.Ile69Leu) | |
| 1 | g.171114132T>A | CA343187751 | FMO3 | c.953T>A (p.Ile318Lys) c.764T>A (p.Ile255Lys) c.893T>A (p.Ile298Lys) c.206T>A (p.Ile69Lys) | |
| 1 | g.171114132T>C | CA343187750 | FMO3 | c.953T>C (p.Ile318Thr) c.764T>C (p.Ile255Thr) c.893T>C (p.Ile298Thr) c.206T>C (p.Ile69Thr) | |
| 1 | g.171114132T>G | CA343187749 | FMO3 | c.953T>G (p.Ile318Arg) c.764T>G (p.Ile255Arg) c.893T>G (p.Ile298Arg) c.206T>G (p.Ile69Arg) | |
| 1 | g.171114133A>C | CA421933917 | FMO3 | c.954A>C (p.Ile318=) c.765A>C (p.Ile255=) c.894A>C (p.Ile298=) c.207A>C (p.Ile69=) | |
| 1 | g.171114133A>G | CA343187752 | FMO3 | c.954A>G (p.Ile318Met) c.765A>G (p.Ile255Met) c.894A>G (p.Ile298Met) c.207A>G (p.Ile69Met) | |
| 1 | g.171114133A>T | CA421933919 | FMO3 | c.954A>T (p.Ile318=) c.765A>T (p.Ile255=) c.894A>T (p.Ile298=) c.207A>T (p.Ile69=) | |
| 1 | g.171114134T>A | CA343187755 | FMO3 | c.955T>A (p.Phe319Ile) c.766T>A (p.Phe256Ile) c.895T>A (p.Phe299Ile) c.208T>A (p.Phe70Ile) |