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 |
|---|---|---|---|---|---|
| 4 | g.9980688C>A | CA356362917 | SLC2A9 | c.585G>T (p.Lys195Asn) c.498G>T (p.Lys166Asn) n.619G>T c.189G>T (p.Lys63Asn) c.177G>T (p.Lys59Asn) c.27G>T (p.Lys9Asn) n.681G>T c.123G>T (p.Lys41Asn) c.198G>T (p.Lys66Asn) n.758G>T n.762G>T | |
| 4 | g.9980688C= | CA1437785921 | SLC2A9 | c.585G= (p.Lys195=) c.498G= (p.Lys166=) n.619G= c.189G= (p.Lys63=) c.177G= (p.Lys59=) c.27G= (p.Lys9=) n.681G= c.123G= (p.Lys41=) c.198G= (p.Lys66=) n.758G= n.762G= | |
| 4 | g.9980688C>G | CA356362918 | SLC2A9 | c.585G>C (p.Lys195Asn) c.498G>C (p.Lys166Asn) n.619G>C c.189G>C (p.Lys63Asn) c.177G>C (p.Lys59Asn) c.27G>C (p.Lys9Asn) n.681G>C c.123G>C (p.Lys41Asn) c.198G>C (p.Lys66Asn) n.758G>C n.762G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.9980688C>T | CA438517625 | SLC2A9 | c.585G>A (p.Lys195=) c.498G>A (p.Lys166=) n.619G>A c.189G>A (p.Lys63=) c.177G>A (p.Lys59=) c.27G>A (p.Lys9=) n.681G>A c.123G>A (p.Lys41=) c.198G>A (p.Lys66=) n.758G>A n.762G>A | dbSNP |
| 4 | g.9980689T>A | CA356362919 | SLC2A9 | c.584A>T (p.Lys195Met) c.497A>T (p.Lys166Met) n.618A>T c.188A>T (p.Lys63Met) c.176A>T (p.Lys59Met) c.26A>T (p.Lys9Met) n.680A>T c.122A>T (p.Lys41Met) c.197A>T (p.Lys66Met) n.757A>T n.761A>T | |
| 4 | g.9980689T>C | CA356362920 | SLC2A9 | c.584A>G (p.Lys195Arg) c.497A>G (p.Lys166Arg) n.618A>G c.188A>G (p.Lys63Arg) c.176A>G (p.Lys59Arg) c.26A>G (p.Lys9Arg) n.680A>G c.122A>G (p.Lys41Arg) c.197A>G (p.Lys66Arg) n.757A>G n.761A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.9980689T>G | CA356362921 | SLC2A9 | c.584A>C (p.Lys195Thr) c.497A>C (p.Lys166Thr) n.618A>C c.188A>C (p.Lys63Thr) c.176A>C (p.Lys59Thr) c.26A>C (p.Lys9Thr) n.680A>C c.122A>C (p.Lys41Thr) c.197A>C (p.Lys66Thr) n.757A>C n.761A>C | |
| 4 | g.9980689T= | CA1437785922 | SLC2A9 | c.584A= (p.Lys195=) c.497A= (p.Lys166=) n.618A= c.188A= (p.Lys63=) c.176A= (p.Lys59=) c.26A= (p.Lys9=) n.680A= c.122A= (p.Lys41=) c.197A= (p.Lys66=) n.757A= n.761A= | |
| 4 | g.9980690T>A | CA356362922 | SLC2A9 | c.583A>T (p.Lys195Ter) c.496A>T (p.Lys166Ter) n.617A>T c.187A>T (p.Lys63Ter) c.175A>T (p.Lys59Ter) c.25A>T (p.Lys9Ter) n.679A>T c.121A>T (p.Lys41Ter) c.196A>T (p.Lys66Ter) n.756A>T n.760A>T | |
| 4 | g.9980690T>C | CA2857171 | SLC2A9 | c.583A>G (p.Lys195Glu) c.496A>G (p.Lys166Glu) n.617A>G c.187A>G (p.Lys63Glu) c.175A>G (p.Lys59Glu) c.25A>G (p.Lys9Glu) n.679A>G c.121A>G (p.Lys41Glu) c.196A>G (p.Lys66Glu) n.756A>G n.760A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.9980690T>G | CA356362923 | SLC2A9 | c.583A>C (p.Lys195Gln) c.496A>C (p.Lys166Gln) n.617A>C c.187A>C (p.Lys63Gln) c.175A>C (p.Lys59Gln) c.25A>C (p.Lys9Gln) n.679A>C c.121A>C (p.Lys41Gln) c.196A>C (p.Lys66Gln) n.756A>C n.760A>C | |
| 4 | g.9980690T= | CA1437785923 | SLC2A9 | c.583A= (p.Lys195=) c.496A= (p.Lys166=) n.617A= c.187A= (p.Lys63=) c.175A= (p.Lys59=) c.25A= (p.Lys9=) n.679A= c.121A= (p.Lys41=) c.196A= (p.Lys66=) n.756A= n.760A= | |
| 4 | g.9980691G>A | CA438517628 | SLC2A9 | c.582C>T (p.Pro194=) c.495C>T (p.Pro165=) n.616C>T c.186C>T (p.Pro62=) c.174C>T (p.Pro58=) c.24C>T (p.Pro8=) n.678C>T c.120C>T (p.Pro40=) c.195C>T (p.Pro65=) n.755C>T n.759C>T | dbSNP gnomAD v4 |
| 4 | g.9980691G>C | CA438517629 | SLC2A9 | c.582C>G (p.Pro194=) c.495C>G (p.Pro165=) n.616C>G c.186C>G (p.Pro62=) c.174C>G (p.Pro58=) c.24C>G (p.Pro8=) n.678C>G c.120C>G (p.Pro40=) c.195C>G (p.Pro65=) n.755C>G n.759C>G | dbSNP gnomAD v4 |
| 4 | g.9980691G= | CA1437785924 | SLC2A9 | c.582C= (p.Pro194=) c.495C= (p.Pro165=) n.616C= c.186C= (p.Pro62=) c.174C= (p.Pro58=) c.24C= (p.Pro8=) n.678C= c.120C= (p.Pro40=) c.195C= (p.Pro65=) n.755C= n.759C= | |
| 4 | g.9980691G>T | CA438517630 | SLC2A9 | c.582C>A (p.Pro194=) c.495C>A (p.Pro165=) n.616C>A c.186C>A (p.Pro62=) c.174C>A (p.Pro58=) c.24C>A (p.Pro8=) n.678C>A c.120C>A (p.Pro40=) c.195C>A (p.Pro65=) n.755C>A n.759C>A | |
| 4 | g.9980692G>A | CA356362924 | SLC2A9 | c.581C>T (p.Pro194Leu) c.494C>T (p.Pro165Leu) n.615C>T c.185C>T (p.Pro62Leu) c.173C>T (p.Pro58Leu) c.23C>T (p.Pro8Leu) n.677C>T c.119C>T (p.Pro40Leu) c.194C>T (p.Pro65Leu) n.754C>T n.758C>T | COSMIC COSMIC |
| 4 | g.9980692G>C | CA356362925 | SLC2A9 | c.581C>G (p.Pro194Arg) c.494C>G (p.Pro165Arg) n.615C>G c.185C>G (p.Pro62Arg) c.173C>G (p.Pro58Arg) c.23C>G (p.Pro8Arg) n.677C>G c.119C>G (p.Pro40Arg) c.194C>G (p.Pro65Arg) n.754C>G n.758C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.9980692G= | CA1437785925 | SLC2A9 | c.581C= (p.Pro194=) c.494C= (p.Pro165=) n.615C= c.185C= (p.Pro62=) c.173C= (p.Pro58=) c.23C= (p.Pro8=) n.677C= c.119C= (p.Pro40=) c.194C= (p.Pro65=) n.754C= n.758C= | |
| 4 | g.9980692G>T | CA356362926 | SLC2A9 | c.581C>A (p.Pro194His) c.494C>A (p.Pro165His) n.615C>A c.185C>A (p.Pro62His) c.173C>A (p.Pro58His) c.23C>A (p.Pro8His) n.677C>A c.119C>A (p.Pro40His) c.194C>A (p.Pro65His) n.754C>A n.758C>A | COSMIC COSMIC |
| 4 | g.9980693G>A | CA356362927 | SLC2A9 | c.580C>T (p.Pro194Ser) c.493C>T (p.Pro165Ser) n.614C>T c.184C>T (p.Pro62Ser) c.172C>T (p.Pro58Ser) c.22C>T (p.Pro8Ser) n.676C>T c.118C>T (p.Pro40Ser) c.193C>T (p.Pro65Ser) n.753C>T n.757C>T | |
| 4 | g.9980693G>C | CA356362928 | SLC2A9 | c.580C>G (p.Pro194Ala) c.493C>G (p.Pro165Ala) n.614C>G c.184C>G (p.Pro62Ala) c.172C>G (p.Pro58Ala) c.22C>G (p.Pro8Ala) n.676C>G c.118C>G (p.Pro40Ala) c.193C>G (p.Pro65Ala) n.753C>G n.757C>G | gnomAD v4 |
| 4 | g.9980693G>T | CA356362929 | SLC2A9 | c.580C>A (p.Pro194Thr) c.493C>A (p.Pro165Thr) n.614C>A c.184C>A (p.Pro62Thr) c.172C>A (p.Pro58Thr) c.22C>A (p.Pro8Thr) n.676C>A c.118C>A (p.Pro40Thr) c.193C>A (p.Pro65Thr) n.753C>A n.757C>A | |
| 4 | g.9980694T>A | CA438517633 | SLC2A9 | c.579A>T (p.Ser193=) c.492A>T (p.Ser164=) n.613A>T c.183A>T (p.Ser61=) c.171A>T (p.Ser57=) c.21A>T (p.Ser7=) n.675A>T c.117A>T (p.Ser39=) c.192A>T (p.Ser64=) n.752A>T n.756A>T | |
| 4 | g.9980694T>C | CA438517636 | SLC2A9 | c.579A>G (p.Ser193=) c.492A>G (p.Ser164=) n.613A>G c.183A>G (p.Ser61=) c.171A>G (p.Ser57=) c.21A>G (p.Ser7=) n.675A>G c.117A>G (p.Ser39=) c.192A>G (p.Ser64=) n.752A>G n.756A>G | |
| 4 | g.9980694T>G | CA438517634 | SLC2A9 | c.579A>C (p.Ser193=) c.492A>C (p.Ser164=) n.613A>C c.183A>C (p.Ser61=) c.171A>C (p.Ser57=) c.21A>C (p.Ser7=) n.675A>C c.117A>C (p.Ser39=) c.192A>C (p.Ser64=) n.752A>C n.756A>C | |
| 4 | g.9980695G>A | CA356362930 | SLC2A9 | c.578C>T (p.Ser193Leu) c.491C>T (p.Ser164Leu) n.612C>T c.182C>T (p.Ser61Leu) c.170C>T (p.Ser57Leu) c.20C>T (p.Ser7Leu) n.674C>T c.116C>T (p.Ser39Leu) c.191C>T (p.Ser64Leu) n.751C>T n.755C>T | |
| 4 | g.9980695G>C | CA356362931 | SLC2A9 | c.578C>G (p.Ser193Ter) c.491C>G (p.Ser164Ter) n.612C>G c.182C>G (p.Ser61Ter) c.170C>G (p.Ser57Ter) c.20C>G (p.Ser7Ter) n.674C>G c.116C>G (p.Ser39Ter) c.191C>G (p.Ser64Ter) n.751C>G n.755C>G | gnomAD v4 |
| 4 | g.9980695G>T | CA356362932 | SLC2A9 | c.578C>A (p.Ser193Ter) c.491C>A (p.Ser164Ter) n.612C>A c.182C>A (p.Ser61Ter) c.170C>A (p.Ser57Ter) c.20C>A (p.Ser7Ter) n.674C>A c.116C>A (p.Ser39Ter) c.191C>A (p.Ser64Ter) n.751C>A n.755C>A | |
| 4 | g.9980696A>C | CA356362935 | SLC2A9 | c.577T>G (p.Ser193Ala) c.490T>G (p.Ser164Ala) n.611T>G c.181T>G (p.Ser61Ala) c.169T>G (p.Ser57Ala) c.19T>G (p.Ser7Ala) n.673T>G c.115T>G (p.Ser39Ala) c.190T>G (p.Ser64Ala) n.750T>G n.754T>G | |
| 4 | g.9980696A>G | CA356362934 | SLC2A9 | c.577T>C (p.Ser193Pro) c.490T>C (p.Ser164Pro) n.611T>C c.181T>C (p.Ser61Pro) c.169T>C (p.Ser57Pro) c.19T>C (p.Ser7Pro) n.673T>C c.115T>C (p.Ser39Pro) c.190T>C (p.Ser64Pro) n.750T>C n.754T>C | |
| 4 | g.9980696A>T | CA356362933 | SLC2A9 | c.577T>A (p.Ser193Thr) c.490T>A (p.Ser164Thr) n.611T>A c.181T>A (p.Ser61Thr) c.169T>A (p.Ser57Thr) c.19T>A (p.Ser7Thr) n.673T>A c.115T>A (p.Ser39Thr) c.190T>A (p.Ser64Thr) n.750T>A n.754T>A | |
| 4 | g.9980697G>A | CA438517642 | SLC2A9 | c.576C>T (p.Ile192=) c.489C>T (p.Ile163=) n.610C>T c.180C>T (p.Ile60=) c.168C>T (p.Ile56=) c.18C>T (p.Ile6=) n.672C>T c.114C>T (p.Ile38=) c.189C>T (p.Ile63=) n.749C>T n.753C>T | |
| 4 | g.9980697G>C | CA356362936 | SLC2A9 | c.576C>G (p.Ile192Met) c.489C>G (p.Ile163Met) n.610C>G c.180C>G (p.Ile60Met) c.168C>G (p.Ile56Met) c.18C>G (p.Ile6Met) n.672C>G c.114C>G (p.Ile38Met) c.189C>G (p.Ile63Met) n.749C>G n.753C>G | |
| 4 | g.9980697G>T | CA438517643 | SLC2A9 | c.576C>A (p.Ile192=) c.489C>A (p.Ile163=) n.610C>A c.180C>A (p.Ile60=) c.168C>A (p.Ile56=) c.18C>A (p.Ile6=) n.672C>A c.114C>A (p.Ile38=) c.189C>A (p.Ile63=) n.749C>A n.753C>A | |
| 4 | g.9980698A= | CA1437785926 | SLC2A9 | c.575T= (p.Ile192=) c.488T= (p.Ile163=) n.609T= c.179T= (p.Ile60=) c.167T= (p.Ile56=) c.17T= (p.Ile6=) n.671T= c.113T= (p.Ile38=) c.188T= (p.Ile63=) n.748T= n.752T= | |
| 4 | g.9980698A>C | CA356362937 | SLC2A9 | c.575T>G (p.Ile192Ser) c.488T>G (p.Ile163Ser) n.609T>G c.179T>G (p.Ile60Ser) c.167T>G (p.Ile56Ser) c.17T>G (p.Ile6Ser) n.671T>G c.113T>G (p.Ile38Ser) c.188T>G (p.Ile63Ser) n.748T>G n.752T>G | |
| 4 | g.9980698A>G | CA356362938 | SLC2A9 | c.575T>C (p.Ile192Thr) c.488T>C (p.Ile163Thr) n.609T>C c.179T>C (p.Ile60Thr) c.167T>C (p.Ile56Thr) c.17T>C (p.Ile6Thr) n.671T>C c.113T>C (p.Ile38Thr) c.188T>C (p.Ile63Thr) n.748T>C n.752T>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.9980698A>T | CA356362939 | SLC2A9 | c.575T>A (p.Ile192Asn) c.488T>A (p.Ile163Asn) n.609T>A c.179T>A (p.Ile60Asn) c.167T>A (p.Ile56Asn) c.17T>A (p.Ile6Asn) n.671T>A c.113T>A (p.Ile38Asn) c.188T>A (p.Ile63Asn) n.748T>A n.752T>A | |
| 4 | g.9980699T>A | CA356362940 | SLC2A9 | c.574A>T (p.Ile192Phe) c.487A>T (p.Ile163Phe) n.608A>T c.178A>T (p.Ile60Phe) c.166A>T (p.Ile56Phe) c.16A>T (p.Ile6Phe) n.670A>T c.112A>T (p.Ile38Phe) c.187A>T (p.Ile63Phe) n.747A>T n.751A>T | gnomAD v4 |
| 4 | g.9980699T>C | CA356362941 | SLC2A9 | c.574A>G (p.Ile192Val) c.487A>G (p.Ile163Val) n.608A>G c.178A>G (p.Ile60Val) c.166A>G (p.Ile56Val) c.16A>G (p.Ile6Val) n.670A>G c.112A>G (p.Ile38Val) c.187A>G (p.Ile63Val) n.747A>G n.751A>G | |
| 4 | g.9980699T>G | CA356362942 | SLC2A9 | c.574A>C (p.Ile192Leu) c.487A>C (p.Ile163Leu) n.608A>C c.178A>C (p.Ile60Leu) c.166A>C (p.Ile56Leu) c.16A>C (p.Ile6Leu) n.670A>C c.112A>C (p.Ile38Leu) c.187A>C (p.Ile63Leu) n.747A>C n.751A>C | |
| 4 | g.9980700C>A | CA356362943 | SLC2A9 | c.573G>T (p.Glu191Asp) c.486G>T (p.Glu162Asp) n.607G>T c.177G>T (p.Glu59Asp) c.165G>T (p.Glu55Asp) c.15G>T (p.Glu5Asp) n.669G>T c.111G>T (p.Glu37Asp) c.186G>T (p.Glu62Asp) n.746G>T n.750G>T | |
| 4 | g.9980700C= | CA1437785927 | SLC2A9 | c.573G= (p.Glu191=) c.486G= (p.Glu162=) n.607G= c.177G= (p.Glu59=) c.165G= (p.Glu55=) c.15G= (p.Glu5=) n.669G= c.111G= (p.Glu37=) c.186G= (p.Glu62=) n.746G= n.750G= | |
| 4 | g.9980700C>G | CA2857172 | SLC2A9 | c.573G>C (p.Glu191Asp) c.486G>C (p.Glu162Asp) n.607G>C c.177G>C (p.Glu59Asp) c.165G>C (p.Glu55Asp) c.15G>C (p.Glu5Asp) n.669G>C c.111G>C (p.Glu37Asp) c.186G>C (p.Glu62Asp) n.746G>C n.750G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.9980700C>T | CA438517648 | SLC2A9 | c.573G>A (p.Glu191=) c.486G>A (p.Glu162=) n.607G>A c.177G>A (p.Glu59=) c.165G>A (p.Glu55=) c.15G>A (p.Glu5=) n.669G>A c.111G>A (p.Glu37=) c.186G>A (p.Glu62=) n.746G>A n.750G>A | gnomAD v4 |
| 4 | g.9980701T>A | CA356362944 | SLC2A9 | c.572A>T (p.Glu191Val) c.485A>T (p.Glu162Val) n.606A>T c.176A>T (p.Glu59Val) c.164A>T (p.Glu55Val) c.14A>T (p.Glu5Val) n.668A>T c.110A>T (p.Glu37Val) c.185A>T (p.Glu62Val) n.745A>T n.749A>T | |
| 4 | g.9980701T>C | CA356362945 | SLC2A9 | c.572A>G (p.Glu191Gly) c.485A>G (p.Glu162Gly) n.606A>G c.176A>G (p.Glu59Gly) c.164A>G (p.Glu55Gly) c.14A>G (p.Glu5Gly) n.668A>G c.110A>G (p.Glu37Gly) c.185A>G (p.Glu62Gly) n.745A>G n.749A>G | |
| 4 | g.9980701T>G | CA356362946 | SLC2A9 | c.572A>C (p.Glu191Ala) c.485A>C (p.Glu162Ala) n.606A>C c.176A>C (p.Glu59Ala) c.164A>C (p.Glu55Ala) c.14A>C (p.Glu5Ala) n.668A>C c.110A>C (p.Glu37Ala) c.185A>C (p.Glu62Ala) n.745A>C n.749A>C | |
| 4 | g.9980702C>A | CA356362949 | SLC2A9 | c.571G>T (p.Glu191Ter) c.484G>T (p.Glu162Ter) n.605G>T c.175G>T (p.Glu59Ter) c.163G>T (p.Glu55Ter) c.13G>T (p.Glu5Ter) n.667G>T c.109G>T (p.Glu37Ter) c.184G>T (p.Glu62Ter) n.744G>T n.748G>T |