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.171114258T>A | CA343188027 | FMO3 | c.1079T>A (p.Leu360Gln) c.890T>A (p.Leu297Gln) c.1019T>A (p.Leu340Gln) c.332T>A (p.Leu111Gln) | |
| 1 | g.171114258T>C | CA342117 | FMO3 | c.1079T>C (p.Leu360Pro) c.890T>C (p.Leu297Pro) c.1019T>C (p.Leu340Pro) c.332T>C (p.Leu111Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171114258T>G | CA343188028 | FMO3 | c.1079T>G (p.Leu360Arg) c.890T>G (p.Leu297Arg) c.1019T>G (p.Leu340Arg) c.332T>G (p.Leu111Arg) | |
| 1 | g.171114258T= | CA1140476858 | FMO3 | c.1079T= (p.Leu360=) c.890T= (p.Leu297=) c.1019T= (p.Leu340=) c.332T= (p.Leu111=) | |
| 1 | g.171114259A>C | CA421933720 | FMO3 | c.1080A>C (p.Leu360=) c.891A>C (p.Leu297=) c.1020A>C (p.Leu340=) c.333A>C (p.Leu111=) | |
| 1 | g.171114259A>G | CA421933723 | FMO3 | c.1080A>G (p.Leu360=) c.891A>G (p.Leu297=) c.1020A>G (p.Leu340=) c.333A>G (p.Leu111=) | gnomAD v4 COSMIC |
| 1 | g.171114259A>T | CA421933725 | FMO3 | c.1080A>T (p.Leu360=) c.891A>T (p.Leu297=) c.1020A>T (p.Leu340=) c.333A>T (p.Leu111=) | |
| 1 | g.171114259_171114260insAAGGAG | CA2649082804 | FMO3 | c.1080_1081insAAGGAG (p.Leu360_Leu361insLysGlu) c.891_892insAAGGAG (p.Leu297_Leu298insLysGlu) c.1020_1021insAAGGAG (p.Leu340_Leu341insLysGlu) c.333_334insAAGGAG (p.Leu111_Leu112insLysGlu) | gnomAD v4 |
| 1 | g.171114260C>A | CA343188029 | FMO3 | c.1081C>A (p.Leu361Ile) c.892C>A (p.Leu298Ile) c.1021C>A (p.Leu341Ile) c.334C>A (p.Leu112Ile) | |
| 1 | g.171114260C>G | CA343188030 | FMO3 | c.1081C>G (p.Leu361Val) c.892C>G (p.Leu298Val) c.1021C>G (p.Leu341Val) c.334C>G (p.Leu112Val) | gnomAD v4 |
| 1 | g.171114260C>T | CA343188031 | FMO3 | c.1081C>T (p.Leu361Phe) c.892C>T (p.Leu298Phe) c.1021C>T (p.Leu341Phe) c.334C>T (p.Leu112Phe) | gnomAD v4 |
| 1 | g.171114261T>A | CA343188032 | FMO3 | c.1082T>A (p.Leu361His) c.893T>A (p.Leu298His) c.1022T>A (p.Leu341His) c.335T>A (p.Leu112His) | |
| 1 | g.171114261T>C | CA343188033 | FMO3 | c.1082T>C (p.Leu361Pro) c.893T>C (p.Leu298Pro) c.1022T>C (p.Leu341Pro) c.335T>C (p.Leu112Pro) | COSMIC |
| 1 | g.171114261T>G | CA343188034 | FMO3 | c.1082T>G (p.Leu361Arg) c.893T>G (p.Leu298Arg) c.1022T>G (p.Leu341Arg) c.335T>G (p.Leu112Arg) | |
| 1 | g.171114262T>A | CA421933729 | FMO3 | c.1083T>A (p.Leu361=) c.894T>A (p.Leu298=) c.1023T>A (p.Leu341=) c.336T>A (p.Leu112=) | |
| 1 | g.171114262T>C | CA421933730 | FMO3 | c.1083T>C (p.Leu361=) c.894T>C (p.Leu298=) c.1023T>C (p.Leu341=) c.336T>C (p.Leu112=) | |
| 1 | g.171114262T>G | CA421933728 | FMO3 | c.1083T>G (p.Leu361=) c.894T>G (p.Leu298=) c.1023T>G (p.Leu341=) c.336T>G (p.Leu112=) | |
| 1 | g.171114263G>A | CA343188035 | FMO3 | c.1084G>A (p.Glu362Lys) c.895G>A (p.Glu299Lys) c.1024G>A (p.Glu342Lys) c.337G>A (p.Glu113Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171114263G>C | CA1240728 | FMO3 | c.1084G>C (p.Glu362Gln) c.895G>C (p.Glu299Gln) c.1024G>C (p.Glu342Gln) c.337G>C (p.Glu113Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171114263G= | CA1139911915 | FMO3 | c.1084G= (p.Glu362=) c.895G= (p.Glu299=) c.1024G= (p.Glu342=) c.337G= (p.Glu113=) | |
| 1 | g.171114263G>T | CA343188036 | FMO3 | c.1084G>T (p.Glu362Ter) c.895G>T (p.Glu299Ter) c.1024G>T (p.Glu342Ter) c.337G>T (p.Glu113Ter) | |
| 1 | g.171114264A>C | CA343188039 | FMO3 | c.1085A>C (p.Glu362Ala) c.896A>C (p.Glu299Ala) c.1025A>C (p.Glu342Ala) c.338A>C (p.Glu113Ala) | |
| 1 | g.171114264A>G | CA343188038 | FMO3 | c.1085A>G (p.Glu362Gly) c.896A>G (p.Glu299Gly) c.1025A>G (p.Glu342Gly) c.338A>G (p.Glu113Gly) | |
| 1 | g.171114264A>T | CA343188037 | FMO3 | c.1085A>T (p.Glu362Val) c.896A>T (p.Glu299Val) c.1025A>T (p.Glu342Val) c.338A>T (p.Glu113Val) | |
| 1 | g.171114265G>A | CA421933734 | FMO3 | c.1086G>A (p.Glu362=) c.897G>A (p.Glu299=) c.1026G>A (p.Glu342=) c.339G>A (p.Glu113=) | gnomAD v4 |
| 1 | g.171114265G>C | CA343188040 | FMO3 | c.1086G>C (p.Glu362Asp) c.897G>C (p.Glu299Asp) c.1026G>C (p.Glu342Asp) c.339G>C (p.Glu113Asp) | |
| 1 | g.171114265G>T | CA343188041 | FMO3 | c.1086G>T (p.Glu362Asp) c.897G>T (p.Glu299Asp) c.1026G>T (p.Glu342Asp) c.339G>T (p.Glu113Asp) | |
| 1 | g.171114266A>C | CA343188042 | FMO3 | c.1087A>C (p.Lys363Gln) c.898A>C (p.Lys300Gln) c.1027A>C (p.Lys343Gln) c.340A>C (p.Lys114Gln) | |
| 1 | g.171114266A>G | CA343188044 | FMO3 | c.1087A>G (p.Lys363Glu) c.898A>G (p.Lys300Glu) c.1027A>G (p.Lys343Glu) c.340A>G (p.Lys114Glu) | |
| 1 | g.171114266A>T | CA343188043 | FMO3 | c.1087A>T (p.Lys363Ter) c.898A>T (p.Lys300Ter) c.1027A>T (p.Lys343Ter) c.340A>T (p.Lys114Ter) | |
| 1 | g.171114267A>C | CA343188045 | FMO3 | c.1088A>C (p.Lys363Thr) c.899A>C (p.Lys300Thr) c.1028A>C (p.Lys343Thr) c.341A>C (p.Lys114Thr) | |
| 1 | g.171114267A>G | CA343188047 | FMO3 | c.1088A>G (p.Lys363Arg) c.899A>G (p.Lys300Arg) c.1028A>G (p.Lys343Arg) c.341A>G (p.Lys114Arg) | |
| 1 | g.171114267A>T | CA343188046 | FMO3 | c.1088A>T (p.Lys363Met) c.899A>T (p.Lys300Met) c.1028A>T (p.Lys343Met) c.341A>T (p.Lys114Met) | |
| 1 | g.171114268G>A | CA421933735 | FMO3 | c.1089G>A (p.Lys363=) c.900G>A (p.Lys300=) c.1029G>A (p.Lys343=) c.342G>A (p.Lys114=) | |
| 1 | g.171114268G>C | CA1240729 | FMO3 | c.1089G>C (p.Lys363Asn) c.900G>C (p.Lys300Asn) c.1029G>C (p.Lys343Asn) c.342G>C (p.Lys114Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171114268G= | CA1206797091 | FMO3 | c.1089G= (p.Lys363=) c.900G= (p.Lys300=) c.1029G= (p.Lys343=) c.342G= (p.Lys114=) | |
| 1 | g.171114268G>T | CA343188048 | FMO3 | c.1089G>T (p.Lys363Asn) c.900G>T (p.Lys300Asn) c.1029G>T (p.Lys343Asn) c.342G>T (p.Lys114Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171114269T>A | CA343188049 | FMO3 | c.1090T>A (p.Ser364Thr) c.901T>A (p.Ser301Thr) c.1030T>A (p.Ser344Thr) c.343T>A (p.Ser115Thr) | |
| 1 | g.171114269T>C | CA343188050 | FMO3 | c.1090T>C (p.Ser364Pro) c.901T>C (p.Ser301Pro) c.1030T>C (p.Ser344Pro) c.343T>C (p.Ser115Pro) | |
| 1 | g.171114269T>G | CA343188051 | FMO3 | c.1090T>G (p.Ser364Ala) c.901T>G (p.Ser301Ala) c.1030T>G (p.Ser344Ala) c.343T>G (p.Ser115Ala) | |
| 1 | g.171114270C>A | CA343188052 | FMO3 | c.1091C>A (p.Ser364Ter) c.902C>A (p.Ser301Ter) c.1031C>A (p.Ser344Ter) c.344C>A (p.Ser115Ter) | |
| 1 | g.171114270C>G | CA343188053 | FMO3 | c.1091C>G (p.Ser364Ter) c.902C>G (p.Ser301Ter) c.1031C>G (p.Ser344Ter) c.344C>G (p.Ser115Ter) | |
| 1 | g.171114270C>T | CA343188054 | FMO3 | c.1091C>T (p.Ser364Leu) c.902C>T (p.Ser301Leu) c.1031C>T (p.Ser344Leu) c.344C>T (p.Ser115Leu) | |
| 1 | g.171114271A>C | CA421933738 | FMO3 | c.1092A>C (p.Ser364=) c.903A>C (p.Ser301=) c.1032A>C (p.Ser344=) c.345A>C (p.Ser115=) | |
| 1 | g.171114271A>G | CA421933739 | FMO3 | c.1092A>G (p.Ser364=) c.903A>G (p.Ser301=) c.1032A>G (p.Ser344=) c.345A>G (p.Ser115=) | |
| 1 | g.171114271A>T | CA421933742 | FMO3 | c.1092A>T (p.Ser364=) c.903A>T (p.Ser301=) c.1032A>T (p.Ser344=) c.345A>T (p.Ser115=) | |
| 1 | g.171114272A>C | CA343188055 | FMO3 | c.1093A>C (p.Thr365Pro) c.904A>C (p.Thr302Pro) c.1033A>C (p.Thr345Pro) c.346A>C (p.Thr116Pro) | |
| 1 | g.171114272A>G | CA343188056 | FMO3 | c.1093A>G (p.Thr365Ala) c.904A>G (p.Thr302Ala) c.1033A>G (p.Thr345Ala) c.346A>G (p.Thr116Ala) | |
| 1 | g.171114272A>T | CA343188057 | FMO3 | c.1093A>T (p.Thr365Ser) c.904A>T (p.Thr302Ser) c.1033A>T (p.Thr345Ser) c.346A>T (p.Thr116Ser) | |
| 1 | g.171114273C>A | CA343188060 | FMO3 | c.1094C>A (p.Thr365Asn) c.905C>A (p.Thr302Asn) c.1034C>A (p.Thr345Asn) c.347C>A (p.Thr116Asn) |