WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186210589C>A | CA358951178 | CYP4V2,KLKB1 | c.1526C>A (p.Pro509Gln) n.761C>A n.6224C>A c.201+1317C>A n.616C>A c.1523C>A (p.Pro508Gln) c.1130C>A (p.Pro377Gln) | |
| 4 | g.186210589C= | CA1519892102 | CYP4V2,KLKB1 | c.1526C= (p.Pro509=) n.761C= n.6224C= c.201+1317C= n.616C= c.1523C= (p.Pro508=) c.1130C= (p.Pro377=) | |
| 4 | g.186210589C>G | CA358951182 | CYP4V2,KLKB1 | c.1526C>G (p.Pro509Arg) n.761C>G n.6224C>G c.201+1317C>G n.616C>G c.1523C>G (p.Pro508Arg) c.1130C>G (p.Pro377Arg) | ClinVar |
| 4 | g.186210589C>T | CA343721 | CYP4V2,KLKB1 | c.1526C>T (p.Pro509Leu) n.761C>T n.6224C>T c.201+1317C>T n.616C>T c.1523C>T (p.Pro508Leu) c.1130C>T (p.Pro377Leu) | ClinVar dbSNP |
| 4 | g.186210590A= | CA1519892103 | CYP4V2,KLKB1 | c.1527A= (p.Pro509=) n.762A= n.6225A= c.201+1318A= n.617A= c.1524A= (p.Pro508=) c.1131A= (p.Pro377=) | |
| 4 | g.186210590A>C | CA442641240 | CYP4V2,KLKB1 | c.1527A>C (p.Pro509=) n.762A>C n.6225A>C c.201+1318A>C n.617A>C c.1524A>C (p.Pro508=) c.1131A>C (p.Pro377=) | |
| 4 | g.186210590A>G | CA3162888 | CYP4V2,KLKB1 | c.1527A>G (p.Pro509=) n.762A>G n.6225A>G c.201+1318A>G n.617A>G c.1524A>G (p.Pro508=) c.1131A>G (p.Pro377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186210590A>T | CA442641241 | CYP4V2,KLKB1 | c.1527A>T (p.Pro509=) n.762A>T n.6225A>T c.201+1318A>T n.617A>T c.1524A>T (p.Pro508=) c.1131A>T (p.Pro377=) | |
| 4 | g.186210591A>C | CA358951186 | CYP4V2,KLKB1 | c.1528A>C (p.Ser510Arg) n.763A>C n.6226A>C c.201+1319A>C n.618A>C c.1525A>C (p.Ser509Arg) c.1132A>C (p.Ser378Arg) | |
| 4 | g.186210591A>G | CA358951189 | CYP4V2,KLKB1 | c.1528A>G (p.Ser510Gly) n.763A>G n.6226A>G c.201+1319A>G n.618A>G c.1525A>G (p.Ser509Gly) c.1132A>G (p.Ser378Gly) | gnomAD v4 |
| 4 | g.186210591A>T | CA358951190 | CYP4V2,KLKB1 | c.1528A>T (p.Ser510Cys) n.763A>T n.6226A>T c.201+1319A>T n.618A>T c.1525A>T (p.Ser509Cys) c.1132A>T (p.Ser378Cys) | |
| 4 | g.186210592G>A | CA358951193 | CYP4V2,KLKB1 | c.1529G>A (p.Ser510Asn) n.764G>A n.6227G>A c.201+1320G>A n.619G>A c.1526G>A (p.Ser509Asn) c.1133G>A (p.Ser378Asn) | ClinVar dbSNP |
| 4 | g.186210592G>C | CA358951194 | CYP4V2,KLKB1 | c.1529G>C (p.Ser510Thr) n.764G>C n.6227G>C c.201+1320G>C n.619G>C c.1526G>C (p.Ser509Thr) c.1133G>C (p.Ser378Thr) | |
| 4 | g.186210592G>T | CA358951196 | CYP4V2,KLKB1 | c.1529G>T (p.Ser510Ile) n.764G>T n.6227G>T c.201+1320G>T n.619G>T c.1526G>T (p.Ser509Ile) c.1133G>T (p.Ser378Ile) | |
| 4 | g.186210593T>A | CA358951198 | CYP4V2,KLKB1 | c.1530T>A (p.Ser510Arg) n.765T>A n.6228T>A c.201+1321T>A n.620T>A c.1527T>A (p.Ser509Arg) c.1134T>A (p.Ser378Arg) | |
| 4 | g.186210593T>C | CA442641242 | CYP4V2,KLKB1 | c.1530T>C (p.Ser510=) n.765T>C n.6228T>C c.201+1321T>C n.620T>C c.1527T>C (p.Ser509=) c.1134T>C (p.Ser378=) | |
| 4 | g.186210593T>G | CA358951200 | CYP4V2,KLKB1 | c.1530T>G (p.Ser510Arg) n.765T>G n.6228T>G c.201+1321T>G n.620T>G c.1527T>G (p.Ser509Arg) c.1134T>G (p.Ser378Arg) | |
| 4 | g.186210594A>C | CA358951205 | CYP4V2,KLKB1 | c.1531A>C (p.Asn511His) n.766A>C n.6229A>C c.201+1322A>C n.621A>C c.1528A>C (p.Asn510His) c.1135A>C (p.Asn379His) | |
| 4 | g.186210594A>G | CA358951206 | CYP4V2,KLKB1 | c.1531A>G (p.Asn511Asp) n.766A>G n.6229A>G c.201+1322A>G n.621A>G c.1528A>G (p.Asn510Asp) c.1135A>G (p.Asn379Asp) | |
| 4 | g.186210594A>T | CA358951202 | CYP4V2,KLKB1 | c.1531A>T (p.Asn511Tyr) n.766A>T n.6229A>T c.201+1322A>T n.621A>T c.1528A>T (p.Asn510Tyr) c.1135A>T (p.Asn379Tyr) | |
| 4 | g.186210595A>C | CA358951210 | CYP4V2,KLKB1 | c.1532A>C (p.Asn511Thr) n.767A>C n.6230A>C c.201+1323A>C n.622A>C c.1529A>C (p.Asn510Thr) c.1136A>C (p.Asn379Thr) | |
| 4 | g.186210595A>G | CA358951212 | CYP4V2,KLKB1 | c.1532A>G (p.Asn511Ser) n.767A>G n.6230A>G c.201+1323A>G n.622A>G c.1529A>G (p.Asn510Ser) c.1136A>G (p.Asn379Ser) | gnomAD v4 |
| 4 | g.186210595A>T | CA358951214 | CYP4V2,KLKB1 | c.1532A>T (p.Asn511Ile) n.767A>T n.6230A>T c.201+1323A>T n.622A>T c.1529A>T (p.Asn510Ile) c.1136A>T (p.Asn379Ile) | |
| 4 | g.186210596T>A | CA358951216 | CYP4V2,KLKB1 | c.1533T>A (p.Asn511Lys) n.768T>A n.6231T>A c.201+1324T>A n.623T>A c.1530T>A (p.Asn510Lys) c.1137T>A (p.Asn379Lys) | |
| 4 | g.186210596T>C | CA442641243 | CYP4V2,KLKB1 | c.1533T>C (p.Asn511=) n.768T>C n.6231T>C c.201+1324T>C n.623T>C c.1530T>C (p.Asn510=) c.1137T>C (p.Asn379=) | dbSNP |
| 4 | g.186210596T>G | CA358951219 | CYP4V2,KLKB1 | c.1533T>G (p.Asn511Lys) n.768T>G n.6231T>G c.201+1324T>G n.623T>G c.1530T>G (p.Asn510Lys) c.1137T>G (p.Asn379Lys) | |
| 4 | g.186210596T= | CA1519892104 | CYP4V2,KLKB1 | c.1533T= (p.Asn511=) n.768T= n.6231T= c.201+1324T= n.623T= c.1530T= (p.Asn510=) c.1137T= (p.Asn379=) | |
| 4 | g.186210597G>A | CA3162889 | CYP4V2,KLKB1 | c.1534G>A (p.Gly512Ser) n.769G>A n.6232G>A c.201+1325G>A n.624G>A c.1531G>A (p.Gly511Ser) c.1138G>A (p.Gly380Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186210597G>C | CA358951221 | CYP4V2,KLKB1 | c.1534G>C (p.Gly512Arg) n.769G>C n.6232G>C c.201+1325G>C n.624G>C c.1531G>C (p.Gly511Arg) c.1138G>C (p.Gly380Arg) | dbSNP gnomAD v4 |
| 4 | g.186210597G= | CA1519892105 | CYP4V2,KLKB1 | c.1534G= (p.Gly512=) n.769G= n.6232G= c.201+1325G= n.624G= c.1531G= (p.Gly511=) c.1138G= (p.Gly380=) | |
| 4 | g.186210597G>T | CA358951223 | CYP4V2,KLKB1 | c.1534G>T (p.Gly512Cys) n.769G>T n.6232G>T c.201+1325G>T n.624G>T c.1531G>T (p.Gly511Cys) c.1138G>T (p.Gly380Cys) | |
| 4 | g.186210598G>A | CA358951227 | CYP4V2,KLKB1 | c.1535G>A (p.Gly512Asp) n.770G>A n.6233G>A c.201+1326G>A n.625G>A c.1532G>A (p.Gly511Asp) c.1139G>A (p.Gly380Asp) | |
| 4 | g.186210598G>C | CA358951229 | CYP4V2,KLKB1 | c.1535G>C (p.Gly512Ala) n.770G>C n.6233G>C c.201+1326G>C n.625G>C c.1532G>C (p.Gly511Ala) c.1139G>C (p.Gly380Ala) | |
| 4 | g.186210598G>T | CA358951232 | CYP4V2,KLKB1 | c.1535G>T (p.Gly512Val) n.770G>T n.6233G>T c.201+1326G>T n.625G>T c.1532G>T (p.Gly511Val) c.1139G>T (p.Gly380Val) | |
| 4 | g.186210599C>A | CA442641244 | CYP4V2,KLKB1 | c.1536C>A (p.Gly512=) n.771C>A n.6234C>A c.201+1327C>A n.626C>A c.1533C>A (p.Gly511=) c.1140C>A (p.Gly380=) | |
| 4 | g.186210599C= | CA1519892106 | CYP4V2,KLKB1 | c.1536C= (p.Gly512=) n.771C= n.6234C= c.201+1327C= n.626C= c.1533C= (p.Gly511=) c.1140C= (p.Gly380=) | |
| 4 | g.186210599C>G | CA442641245 | CYP4V2,KLKB1 | c.1536C>G (p.Gly512=) n.771C>G n.6234C>G c.201+1327C>G n.626C>G c.1533C>G (p.Gly511=) c.1140C>G (p.Gly380=) | gnomAD v4 |
| 4 | g.186210599C>T | CA3162890 | CYP4V2,KLKB1 | c.1536C>T (p.Gly512=) n.771C>T n.6234C>T c.201+1327C>T n.626C>T c.1533C>T (p.Gly511=) c.1140C>T (p.Gly380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186210600A= | CA1519892107 | CYP4V2,KLKB1 | c.1537A= (p.Ile513=) n.772A= n.6235A= c.201+1328A= n.627A= c.1534A= (p.Ile512=) c.1141A= (p.Ile381=) | |
| 4 | g.186210600A>C | CA358951241 | CYP4V2,KLKB1 | c.1537A>C (p.Ile513Leu) n.772A>C n.6235A>C c.201+1328A>C n.627A>C c.1534A>C (p.Ile512Leu) c.1141A>C (p.Ile381Leu) | |
| 4 | g.186210600A>G | CA358951236 | CYP4V2,KLKB1 | c.1537A>G (p.Ile513Val) n.772A>G n.6235A>G c.201+1328A>G n.627A>G c.1534A>G (p.Ile512Val) c.1141A>G (p.Ile381Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186210600A>T | CA358951239 | CYP4V2,KLKB1 | c.1537A>T (p.Ile513Phe) n.772A>T n.6235A>T c.201+1328A>T n.627A>T c.1534A>T (p.Ile512Phe) c.1141A>T (p.Ile381Phe) | |
| 4 | g.186210601T>A | CA358951244 | CYP4V2,KLKB1 | c.1538T>A (p.Ile513Asn) n.773T>A n.6236T>A c.201+1329T>A n.628T>A c.1535T>A (p.Ile512Asn) c.1142T>A (p.Ile381Asn) | |
| 4 | g.186210601T>C | CA358951250 | CYP4V2,KLKB1 | c.1538T>C (p.Ile513Thr) n.773T>C n.6236T>C c.201+1329T>C n.628T>C c.1535T>C (p.Ile512Thr) c.1142T>C (p.Ile381Thr) | gnomAD v4 |
| 4 | g.186210601T>G | CA358951253 | CYP4V2,KLKB1 | c.1538T>G (p.Ile513Ser) n.773T>G n.6236T>G c.201+1329T>G n.628T>G c.1535T>G (p.Ile512Ser) c.1142T>G (p.Ile381Ser) | |
| 4 | g.186210602C>A | CA442641246 | CYP4V2,KLKB1 | c.1539C>A (p.Ile513=) n.774C>A n.6237C>A c.201+1330C>A n.629C>A c.1536C>A (p.Ile512=) c.1143C>A (p.Ile381=) | |
| 4 | g.186210602C>G | CA358951255 | CYP4V2,KLKB1 | c.1539C>G (p.Ile513Met) n.774C>G n.6237C>G c.201+1330C>G n.629C>G c.1536C>G (p.Ile512Met) c.1143C>G (p.Ile381Met) | gnomAD v4 |
| 4 | g.186210602C>T | CA442641247 | CYP4V2,KLKB1 | c.1539C>T (p.Ile513=) n.774C>T n.6237C>T c.201+1330C>T n.629C>T c.1536C>T (p.Ile512=) c.1143C>T (p.Ile381=) | gnomAD v4 |
| 4 | g.186210603T>A | CA358951258 | CYP4V2,KLKB1 | c.1540T>A (p.Trp514Arg) n.775T>A n.6238T>A c.201+1331T>A n.630T>A c.1537T>A (p.Trp513Arg) c.1144T>A (p.Trp382Arg) | |
| 4 | g.186210603T>C | CA358951261 | CYP4V2,KLKB1 | c.1540T>C (p.Trp514Arg) n.775T>C n.6238T>C c.201+1331T>C n.630T>C c.1537T>C (p.Trp513Arg) c.1144T>C (p.Trp382Arg) |