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 |
|---|---|---|---|---|---|
| 20 | g.46725214C>A | CA409266499 | SLC2A10 | c.178C>A (p.Leu60Ile) n.330C>A c.241C>A (p.Leu81Ile) c.187C>A (p.Leu63Ile) n.377C>A n.364C>A | |
| 20 | g.46725214C= | CA2366796087 | SLC2A10 | c.178C= (p.Leu60=) n.330C= c.241C= (p.Leu81=) c.187C= (p.Leu63=) n.377C= n.364C= | |
| 20 | g.46725214C>G | CA409266501 | SLC2A10 | c.178C>G (p.Leu60Val) n.330C>G c.241C>G (p.Leu81Val) c.187C>G (p.Leu63Val) n.377C>G n.364C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725214C>T | CA409266500 | SLC2A10 | c.178C>T (p.Leu60Phe) n.330C>T c.241C>T (p.Leu81Phe) c.187C>T (p.Leu63Phe) n.377C>T n.364C>T | |
| 20 | g.46725215T>A | CA409266502 | SLC2A10 | c.179T>A (p.Leu60His) n.331T>A c.242T>A (p.Leu81His) c.188T>A (p.Leu63His) n.378T>A n.365T>A | |
| 20 | g.46725215T>C | CA409266503 | SLC2A10 | c.179T>C (p.Leu60Pro) n.331T>C c.242T>C (p.Leu81Pro) c.188T>C (p.Leu63Pro) n.378T>C n.365T>C | |
| 20 | g.46725215T>G | CA409266504 | SLC2A10 | c.179T>G (p.Leu60Arg) n.331T>G c.242T>G (p.Leu81Arg) c.188T>G (p.Leu63Arg) n.378T>G n.365T>G | |
| 20 | g.46725216C>A | CA510847446 | SLC2A10 | c.180C>A (p.Leu60=) n.332C>A c.243C>A (p.Leu81=) c.189C>A (p.Leu63=) n.379C>A n.366C>A | |
| 20 | g.46725216C= | CA2366796088 | SLC2A10 | c.180C= (p.Leu60=) n.332C= c.243C= (p.Leu81=) c.189C= (p.Leu63=) n.379C= n.366C= | |
| 20 | g.46725216C>G | CA510847447 | SLC2A10 | c.180C>G (p.Leu60=) n.332C>G c.243C>G (p.Leu81=) c.189C>G (p.Leu63=) n.379C>G n.366C>G | dbSNP |
| 20 | g.46725216C>T | CA9891926 | SLC2A10 | c.180C>T (p.Leu60=) n.332C>T c.243C>T (p.Leu81=) c.189C>T (p.Leu63=) n.379C>T n.366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725217G>A | CA9891927 | SLC2A10 | c.181G>A (p.Ala61Thr) n.333G>A c.244G>A (p.Ala82Thr) c.190G>A (p.Ala64Thr) n.380G>A n.367G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.46725217G>C | CA409266506 | SLC2A10 | c.181G>C (p.Ala61Pro) n.333G>C c.244G>C (p.Ala82Pro) c.190G>C (p.Ala64Pro) n.380G>C n.367G>C | |
| 20 | g.46725217G= | CA2366796089 | SLC2A10 | c.181G= (p.Ala61=) n.333G= c.244G= (p.Ala82=) c.190G= (p.Ala64=) n.380G= n.367G= | |
| 20 | g.46725217G>T | CA409266505 | SLC2A10 | c.181G>T (p.Ala61Ser) n.333G>T c.244G>T (p.Ala82Ser) c.190G>T (p.Ala64Ser) n.380G>T n.367G>T | |
| 20 | g.46725218C>A | CA409266507 | SLC2A10 | c.182C>A (p.Ala61Asp) n.334C>A c.245C>A (p.Ala82Asp) c.191C>A (p.Ala64Asp) n.381C>A n.368C>A | |
| 20 | g.46725218C= | CA2366796090 | SLC2A10 | c.182C= (p.Ala61=) n.334C= c.245C= (p.Ala82=) c.191C= (p.Ala64=) n.381C= n.368C= | |
| 20 | g.46725218C>G | CA409266508 | SLC2A10 | c.182C>G (p.Ala61Gly) n.334C>G c.245C>G (p.Ala82Gly) c.191C>G (p.Ala64Gly) n.381C>G n.368C>G | gnomAD v4 |
| 20 | g.46725218C>T | CA409266509 | SLC2A10 | c.182C>T (p.Ala61Val) n.334C>T c.245C>T (p.Ala82Val) c.191C>T (p.Ala64Val) n.381C>T n.368C>T | dbSNP gnomAD v4 |
| 20 | g.46725219C>A | CA510847448 | SLC2A10 | c.183C>A (p.Ala61=) n.335C>A c.246C>A (p.Ala82=) c.192C>A (p.Ala64=) n.382C>A n.369C>A | |
| 20 | g.46725219C= | CA2366796091 | SLC2A10 | c.183C= (p.Ala61=) n.335C= c.246C= (p.Ala82=) c.192C= (p.Ala64=) n.382C= n.369C= | |
| 20 | g.46725219C>G | CA510847449 | SLC2A10 | c.183C>G (p.Ala61=) n.335C>G c.246C>G (p.Ala82=) c.192C>G (p.Ala64=) n.382C>G n.369C>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.46725219C>T | CA9891928 | SLC2A10 | c.183C>T (p.Ala61=) n.335C>T c.246C>T (p.Ala82=) c.192C>T (p.Ala64=) n.382C>T n.369C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725220T>A | CA409266510 | SLC2A10 | c.184T>A (p.Ser62Thr) n.336T>A c.247T>A (p.Ser83Thr) c.193T>A (p.Ser65Thr) n.383T>A n.370T>A | |
| 20 | g.46725220T>C | CA409266511 | SLC2A10 | c.184T>C (p.Ser62Pro) n.336T>C c.247T>C (p.Ser83Pro) c.193T>C (p.Ser65Pro) n.383T>C n.370T>C | |
| 20 | g.46725220T>G | CA409266512 | SLC2A10 | c.184T>G (p.Ser62Ala) n.336T>G c.247T>G (p.Ser83Ala) c.193T>G (p.Ser65Ala) n.383T>G n.370T>G | |
| 20 | g.46725221C>A | CA409266513 | SLC2A10 | c.185C>A (p.Ser62Tyr) n.337C>A c.248C>A (p.Ser83Tyr) c.194C>A (p.Ser65Tyr) n.384C>A n.371C>A | |
| 20 | g.46725221C>G | CA409266514 | SLC2A10 | c.185C>G (p.Ser62Cys) n.337C>G c.248C>G (p.Ser83Cys) c.194C>G (p.Ser65Cys) n.384C>G n.371C>G | |
| 20 | g.46725221C>T | CA409266515 | SLC2A10 | c.185C>T (p.Ser62Phe) n.337C>T c.248C>T (p.Ser83Phe) c.194C>T (p.Ser65Phe) n.384C>T n.371C>T | COSMIC |
| 20 | g.46725223del | CA2577417271 | SLC2A10 | c.187del (p.Leu63TrpfsTer28) n.339del c.250del (p.Leu84TrpfsTer28) c.196del (p.Leu66TrpfsTer28) n.386del n.373del | gnomAD v4 |
| 20 | g.46725222C>A | CA510847451 | SLC2A10 | c.186C>A (p.Ser62=) n.338C>A c.249C>A (p.Ser83=) c.195C>A (p.Ser65=) n.385C>A n.372C>A | |
| 20 | g.46725222C= | CA2366796092 | SLC2A10 | c.186C= (p.Ser62=) n.338C= c.249C= (p.Ser83=) c.195C= (p.Ser65=) n.385C= n.372C= | |
| 20 | g.46725222C>G | CA510847450 | SLC2A10 | c.186C>G (p.Ser62=) n.338C>G c.249C>G (p.Ser83=) c.195C>G (p.Ser65=) n.385C>G n.372C>G | |
| 20 | g.46725222C>T | CA9891929 | SLC2A10 | c.186C>T (p.Ser62=) n.338C>T c.249C>T (p.Ser83=) c.195C>T (p.Ser65=) n.385C>T n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725223C>A | CA409266517 | SLC2A10 | c.187C>A (p.Leu63Met) n.339C>A c.250C>A (p.Leu84Met) c.196C>A (p.Leu66Met) n.386C>A n.373C>A | dbSNP |
| 20 | g.46725223C= | CA2366796093 | SLC2A10 | c.187C= (p.Leu63=) n.339C= c.250C= (p.Leu84=) c.196C= (p.Leu66=) n.386C= n.373C= | |
| 20 | g.46725223C>G | CA409266516 | SLC2A10 | c.187C>G (p.Leu63Val) n.339C>G c.250C>G (p.Leu84Val) c.196C>G (p.Leu66Val) n.386C>G n.373C>G | |
| 20 | g.46725223C>T | CA510847452 | SLC2A10 | c.187C>T (p.Leu63=) n.339C>T c.250C>T (p.Leu84=) c.196C>T (p.Leu66=) n.386C>T n.373C>T | dbSNP gnomAD v4 |
| 20 | g.46725224T>A | CA409266518 | SLC2A10 | c.188T>A (p.Leu63Gln) n.340T>A c.251T>A (p.Leu84Gln) c.197T>A (p.Leu66Gln) n.387T>A n.374T>A | |
| 20 | g.46725224T>C | CA409266520 | SLC2A10 | c.188T>C (p.Leu63Pro) n.340T>C c.251T>C (p.Leu84Pro) c.197T>C (p.Leu66Pro) n.387T>C n.374T>C | |
| 20 | g.46725224T>G | CA409266519 | SLC2A10 | c.188T>G (p.Leu63Arg) n.340T>G c.251T>G (p.Leu84Arg) c.197T>G (p.Leu66Arg) n.387T>G n.374T>G | |
| 20 | g.46725225G>A | CA510847453 | SLC2A10 | c.189G>A (p.Leu63=) n.341G>A c.252G>A (p.Leu84=) c.198G>A (p.Leu66=) n.388G>A n.375G>A | |
| 20 | g.46725225G>C | CA315755270 | SLC2A10 | c.189G>C (p.Leu63=) n.341G>C c.252G>C (p.Leu84=) c.198G>C (p.Leu66=) n.388G>C n.375G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725225G= | CA2366796094 | SLC2A10 | c.189G= (p.Leu63=) n.341G= c.252G= (p.Leu84=) c.198G= (p.Leu66=) n.388G= n.375G= | |
| 20 | g.46725225G>T | CA510847454 | SLC2A10 | c.189G>T (p.Leu63=) n.341G>T c.252G>T (p.Leu84=) c.198G>T (p.Leu66=) n.388G>T n.375G>T | |
| 20 | g.46725226G>A | CA409266521 | SLC2A10 | c.190G>A (p.Val64Ile) n.342G>A c.253G>A (p.Val85Ile) c.199G>A (p.Val67Ile) n.389G>A n.376G>A | |
| 20 | g.46725226G>C | CA409266522 | SLC2A10 | c.190G>C (p.Val64Leu) n.342G>C c.253G>C (p.Val85Leu) c.199G>C (p.Val67Leu) n.389G>C n.376G>C | gnomAD v4 |
| 20 | g.46725226G>T | CA409266523 | SLC2A10 | c.190G>T (p.Val64Phe) n.342G>T c.253G>T (p.Val85Phe) c.199G>T (p.Val67Phe) n.389G>T n.376G>T | COSMIC |
| 20 | g.46725227T>A | CA409266524 | SLC2A10 | c.191T>A (p.Val64Asp) n.343T>A c.254T>A (p.Val85Asp) c.200T>A (p.Val67Asp) n.390T>A n.377T>A | |
| 20 | g.46725227T>C | CA409266525 | SLC2A10 | c.191T>C (p.Val64Ala) n.343T>C c.254T>C (p.Val85Ala) c.200T>C (p.Val67Ala) n.390T>C n.377T>C |