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 |
|---|---|---|---|---|---|
| 1 | g.40303808T>A | CA21041291 | COL9A2 | c.1400A>T (p.Gln467Leu) c.211A>T (p.Ser71Cys) n.365A>T n.1703A>T c.1412A>T (p.Gln471Leu) c.1130A>T (p.Gln377Leu) c.857A>T (p.Gln286Leu) c.1118A>T (p.Gln373Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40303808T>C | CA791455 | COL9A2 | c.1400A>G (p.Gln467Arg) c.211A>G (p.Ser71Gly) n.365A>G n.1703A>G c.1412A>G (p.Gln471Arg) c.1130A>G (p.Gln377Arg) c.857A>G (p.Gln286Arg) c.1118A>G (p.Gln373Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40303808T>G | CA339879123 | COL9A2 | c.1400A>C (p.Gln467Pro) c.211A>C (p.Ser71Arg) n.365A>C n.1703A>C c.1412A>C (p.Gln471Pro) c.1130A>C (p.Gln377Pro) c.857A>C (p.Gln286Pro) c.1118A>C (p.Gln373Pro) | |
| 1 | g.40303808T= | CA1143916340 | COL9A2 | c.1400A= (p.Gln467=) c.211A= (p.Ser71=) n.365A= n.1703A= c.1412A= (p.Gln471=) c.1130A= (p.Gln377=) c.857A= (p.Gln286=) c.1118A= (p.Gln373=) | |
| 1 | g.40303809G>A | CA339879135 | COL9A2 | c.1399C>T (p.Gln467Ter) c.210C>T (p.Asp70=) n.364C>T n.1702C>T c.1411C>T (p.Gln471Ter) c.1129C>T (p.Gln377Ter) c.856C>T (p.Gln286Ter) c.1117C>T (p.Gln373Ter) | gnomAD v4 |
| 1 | g.40303809G>C | CA339879139 | COL9A2 | c.1399C>G (p.Gln467Glu) c.210C>G (p.Asp70Glu) n.364C>G n.1702C>G c.1411C>G (p.Gln471Glu) c.1129C>G (p.Gln377Glu) c.856C>G (p.Gln286Glu) c.1117C>G (p.Gln373Glu) | ClinVar gnomAD v4 |
| 1 | g.40303809G= | CA1164336226 | COL9A2 | c.1399C= (p.Gln467=) c.210C= (p.Asp70=) n.364C= n.1702C= c.1411C= (p.Gln471=) c.1129C= (p.Gln377=) c.856C= (p.Gln286=) c.1117C= (p.Gln373=) | |
| 1 | g.40303809G>T | CA339879141 | COL9A2 | c.1399C>A (p.Gln467Lys) c.210C>A (p.Asp70Glu) n.364C>A n.1702C>A c.1411C>A (p.Gln471Lys) c.1129C>A (p.Gln377Lys) c.856C>A (p.Gln286Lys) c.1117C>A (p.Gln373Lys) | dbSNP gnomAD v4 |
| 1 | g.40303810T>A | CA339879148 | COL9A2 | c.1398A>T (p.Gly466=) c.209A>T (p.Asp70Val) n.363A>T n.1701A>T c.1410A>T (p.Gly470=) c.1128A>T (p.Gly376=) c.855A>T (p.Gly285=) c.1116A>T (p.Gly372=) | gnomAD v4 |
| 1 | g.40303810T>C | CA339879151 | COL9A2 | c.1398A>G (p.Gly466=) c.209A>G (p.Asp70Gly) n.363A>G n.1701A>G c.1410A>G (p.Gly470=) c.1128A>G (p.Gly376=) c.855A>G (p.Gly285=) c.1116A>G (p.Gly372=) | |
| 1 | g.40303810T>G | CA339879153 | COL9A2 | c.1398A>C (p.Gly466=) c.209A>C (p.Asp70Ala) n.363A>C n.1701A>C c.1410A>C (p.Gly470=) c.1128A>C (p.Gly376=) c.855A>C (p.Gly285=) c.1116A>C (p.Gly372=) | |
| 1 | g.40303811C>A | CA339879169 | COL9A2 | c.1397G>T (p.Gly466Val) c.208G>T (p.Asp70Tyr) n.362G>T n.1700G>T c.1409G>T (p.Gly470Val) c.1127G>T (p.Gly376Val) c.854G>T (p.Gly285Val) c.1115G>T (p.Gly372Val) | gnomAD v4 |
| 1 | g.40303811C= | CA1164336227 | COL9A2 | c.1397G= (p.Gly466=) c.208G= (p.Asp70=) n.362G= n.1700G= c.1409G= (p.Gly470=) c.1127G= (p.Gly376=) c.854G= (p.Gly285=) c.1115G= (p.Gly372=) | |
| 1 | g.40303811C>G | CA339879157 | COL9A2 | c.1397G>C (p.Gly466Ala) c.208G>C (p.Asp70His) n.362G>C n.1700G>C c.1409G>C (p.Gly470Ala) c.1127G>C (p.Gly376Ala) c.854G>C (p.Gly285Ala) c.1115G>C (p.Gly372Ala) | gnomAD v4 |
| 1 | g.40303811C>T | CA339879154 | COL9A2 | c.1397G>A (p.Gly466Glu) c.208G>A (p.Asp70Asn) n.362G>A n.1700G>A c.1409G>A (p.Gly470Glu) c.1127G>A (p.Gly376Glu) c.854G>A (p.Gly285Glu) c.1115G>A (p.Gly372Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40303812C>A | CA339879174 | COL9A2 | c.1396G>T (p.Gly466Ter) c.207G>T (p.Arg69Ser) n.361G>T n.1699G>T c.1408G>T (p.Gly470Ter) c.1126G>T (p.Gly376Ter) c.853G>T (p.Gly285Ter) c.1114G>T (p.Gly372Ter) | gnomAD v4 |
| 1 | g.40303812C= | CA1164336228 | COL9A2 | c.1396G= (p.Gly466=) c.207G= (p.Arg69=) n.361G= n.1699G= c.1408G= (p.Gly470=) c.1126G= (p.Gly376=) c.853G= (p.Gly285=) c.1114G= (p.Gly372=) | |
| 1 | g.40303812C>G | CA339879176 | COL9A2 | c.1396G>C (p.Gly466Arg) c.207G>C (p.Arg69Ser) n.361G>C n.1699G>C c.1408G>C (p.Gly470Arg) c.1126G>C (p.Gly376Arg) c.853G>C (p.Gly285Arg) c.1114G>C (p.Gly372Arg) | |
| 1 | g.40303812C>T | CA339879179 | COL9A2 | c.1396G>A (p.Gly466Arg) c.207G>A (p.Arg69=) n.361G>A n.1699G>A c.1408G>A (p.Gly470Arg) c.1126G>A (p.Gly376Arg) c.853G>A (p.Gly285Arg) c.1114G>A (p.Gly372Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40303813C>A | CA339879182 | COL9A2 | c.1395G>T (p.Lys465Asn) c.206G>T (p.Arg69Met) n.360G>T n.1698G>T c.1407G>T (p.Lys469Asn) c.1125G>T (p.Lys375Asn) c.852G>T (p.Lys284Asn) c.1113G>T (p.Lys371Asn) | gnomAD v4 |
| 1 | g.40303813C>G | CA339879185 | COL9A2 | c.1395G>C (p.Lys465Asn) c.206G>C (p.Arg69Thr) n.360G>C n.1698G>C c.1407G>C (p.Lys469Asn) c.1125G>C (p.Lys375Asn) c.852G>C (p.Lys284Asn) c.1113G>C (p.Lys371Asn) | |
| 1 | g.40303813C>T | CA339879187 | COL9A2 | c.1395G>A (p.Lys465=) c.206G>A (p.Arg69Lys) n.360G>A n.1698G>A c.1407G>A (p.Lys469=) c.1125G>A (p.Lys375=) c.852G>A (p.Lys284=) c.1113G>A (p.Lys371=) | gnomAD v4 |
| 1 | g.40303814T>A | CA339879191 | COL9A2 | c.1394A>T (p.Lys465Met) c.205A>T (p.Arg69Trp) n.359A>T n.1697A>T c.1406A>T (p.Lys469Met) c.1124A>T (p.Lys375Met) c.851A>T (p.Lys284Met) c.1112A>T (p.Lys371Met) | gnomAD v4 |
| 1 | g.40303814T>C | CA339879196 | COL9A2 | c.1394A>G (p.Lys465Arg) c.205A>G (p.Arg69Gly) n.359A>G n.1697A>G c.1406A>G (p.Lys469Arg) c.1124A>G (p.Lys375Arg) c.851A>G (p.Lys284Arg) c.1112A>G (p.Lys371Arg) | dbSNP gnomAD v4 |
| 1 | g.40303814T>G | CA339879199 | COL9A2 | c.1394A>C (p.Lys465Thr) c.205A>C (p.Arg69=) n.359A>C n.1697A>C c.1406A>C (p.Lys469Thr) c.1124A>C (p.Lys375Thr) c.851A>C (p.Lys284Thr) c.1112A>C (p.Lys371Thr) | |
| 1 | g.40303814T= | CA1164336229 | COL9A2 | c.1394A= (p.Lys465=) c.205A= (p.Arg69=) n.359A= n.1697A= c.1406A= (p.Lys469=) c.1124A= (p.Lys375=) c.851A= (p.Lys284=) c.1112A= (p.Lys371=) | |
| 1 | g.40303815T>A | CA339879202 | COL9A2 | c.1393A>T (p.Lys465Ter) c.204A>T (p.Pro68=) n.358A>T n.1696A>T c.1405A>T (p.Lys469Ter) c.1123A>T (p.Lys375Ter) c.850A>T (p.Lys284Ter) c.1111A>T (p.Lys371Ter) | |
| 1 | g.40303815T>C | CA339879203 | COL9A2 | c.1393A>G (p.Lys465Glu) c.204A>G (p.Pro68=) n.358A>G n.1696A>G c.1405A>G (p.Lys469Glu) c.1123A>G (p.Lys375Glu) c.850A>G (p.Lys284Glu) c.1111A>G (p.Lys371Glu) | gnomAD v4 |
| 1 | g.40303815T>G | CA339879204 | COL9A2 | c.1393A>C (p.Lys465Gln) c.204A>C (p.Pro68=) n.358A>C n.1696A>C c.1405A>C (p.Lys469Gln) c.1123A>C (p.Lys375Gln) c.850A>C (p.Lys284Gln) c.1111A>C (p.Lys371Gln) | |
| 1 | g.40303816G>A | CA339879210 | COL9A2 | c.1392C>T (p.Pro464=) c.203C>T (p.Pro68Leu) n.357C>T n.1695C>T c.1404C>T (p.Pro468=) c.1122C>T (p.Pro374=) c.849C>T (p.Pro283=) c.1110C>T (p.Pro370=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40303816G>C | CA339879206 | COL9A2 | c.1392C>G (p.Pro464=) c.203C>G (p.Pro68Arg) n.357C>G n.1695C>G c.1404C>G (p.Pro468=) c.1122C>G (p.Pro374=) c.849C>G (p.Pro283=) c.1110C>G (p.Pro370=) | |
| 1 | g.40303816G= | CA1164336230 | COL9A2 | c.1392C= (p.Pro464=) c.203C= (p.Pro68=) n.357C= n.1695C= c.1404C= (p.Pro468=) c.1122C= (p.Pro374=) c.849C= (p.Pro283=) c.1110C= (p.Pro370=) | |
| 1 | g.40303816G>T | CA339879209 | COL9A2 | c.1392C>A (p.Pro464=) c.203C>A (p.Pro68Gln) n.357C>A n.1695C>A c.1404C>A (p.Pro468=) c.1122C>A (p.Pro374=) c.849C>A (p.Pro283=) c.1110C>A (p.Pro370=) | gnomAD v4 |
| 1 | g.40303817G>A | CA339879211 | COL9A2 | c.1391C>T (p.Pro464Leu) c.202C>T (p.Pro68Ser) n.356C>T n.1694C>T c.1403C>T (p.Pro468Leu) c.1121C>T (p.Pro374Leu) c.848C>T (p.Pro283Leu) c.1109C>T (p.Pro370Leu) | |
| 1 | g.40303817G>C | CA339879212 | COL9A2 | c.1391C>G (p.Pro464Arg) c.202C>G (p.Pro68Ala) n.356C>G n.1694C>G c.1403C>G (p.Pro468Arg) c.1121C>G (p.Pro374Arg) c.848C>G (p.Pro283Arg) c.1109C>G (p.Pro370Arg) | |
| 1 | g.40303817G>T | CA339879216 | COL9A2 | c.1391C>A (p.Pro464His) c.202C>A (p.Pro68Thr) n.356C>A n.1694C>A c.1403C>A (p.Pro468His) c.1121C>A (p.Pro374His) c.848C>A (p.Pro283His) c.1109C>A (p.Pro370His) | gnomAD v4 |
| 1 | g.40303818G>A | CA339879219 | COL9A2 | c.1390C>T (p.Pro464Ser) c.201C>T (p.Gly67=) n.355C>T n.1693C>T c.1402C>T (p.Pro468Ser) c.1120C>T (p.Pro374Ser) c.847C>T (p.Pro283Ser) c.1108C>T (p.Pro370Ser) | gnomAD v4 |
| 1 | g.40303818G>C | CA339879221 | COL9A2 | c.1390C>G (p.Pro464Ala) c.201C>G (p.Gly67=) n.355C>G n.1693C>G c.1402C>G (p.Pro468Ala) c.1120C>G (p.Pro374Ala) c.847C>G (p.Pro283Ala) c.1108C>G (p.Pro370Ala) | gnomAD v4 |
| 1 | g.40303818G>T | CA339879222 | COL9A2 | c.1390C>A (p.Pro464Thr) c.201C>A (p.Gly67=) n.355C>A n.1693C>A c.1402C>A (p.Pro468Thr) c.1120C>A (p.Pro374Thr) c.847C>A (p.Pro283Thr) c.1108C>A (p.Pro370Thr) | gnomAD v4 |
| 1 | g.40303819C>A | CA21041292 | COL9A2 | c.1389G>T (p.Gly463=) c.200G>T (p.Gly67Val) n.354G>T n.1692G>T c.1401G>T (p.Gly467=) c.1119G>T (p.Gly373=) c.846G>T (p.Gly282=) c.1107G>T (p.Gly369=) | dbSNP gnomAD v4 |
| 1 | g.40303819C= | CA1164336231 | COL9A2 | c.1389G= (p.Gly463=) c.200G= (p.Gly67=) n.354G= n.1692G= c.1401G= (p.Gly467=) c.1119G= (p.Gly373=) c.846G= (p.Gly282=) c.1107G= (p.Gly369=) | |
| 1 | g.40303819C>G | CA339879227 | COL9A2 | c.1389G>C (p.Gly463=) c.200G>C (p.Gly67Ala) n.354G>C n.1692G>C c.1401G>C (p.Gly467=) c.1119G>C (p.Gly373=) c.846G>C (p.Gly282=) c.1107G>C (p.Gly369=) | |
| 1 | g.40303819C>T | CA339879231 | COL9A2 | c.1389G>A (p.Gly463=) c.200G>A (p.Gly67Asp) n.354G>A n.1692G>A c.1401G>A (p.Gly467=) c.1119G>A (p.Gly373=) c.846G>A (p.Gly282=) c.1107G>A (p.Gly369=) | gnomAD v4 |
| 1 | g.40303822del | CA2645102118 | COL9A2 | c.1389del (p.Lys465ArgfsTer?) c.200del (p.Gly67AlafsTer?) n.354del n.1692del c.1401del (p.Lys469ArgfsTer?) c.1119del (p.Lys375ArgfsTer?) c.846del (p.Lys284ArgfsTer?) c.1107del (p.Lys371ArgfsTer?) | gnomAD v4 |
| 1 | g.40303820C>A | CA339879236 | COL9A2 | c.1388G>T (p.Gly463Val) c.199G>T (p.Gly67Cys) n.353G>T n.1691G>T c.1400G>T (p.Gly467Val) c.1118G>T (p.Gly373Val) c.845G>T (p.Gly282Val) c.1106G>T (p.Gly369Val) | gnomAD v4 |
| 1 | g.40303820C>G | CA339879239 | COL9A2 | c.1388G>C (p.Gly463Ala) c.199G>C (p.Gly67Arg) n.353G>C n.1691G>C c.1400G>C (p.Gly467Ala) c.1118G>C (p.Gly373Ala) c.845G>C (p.Gly282Ala) c.1106G>C (p.Gly369Ala) | gnomAD v4 |
| 1 | g.40303820C>T | CA339879244 | COL9A2 | c.1388G>A (p.Gly463Glu) c.199G>A (p.Gly67Ser) n.353G>A n.1691G>A c.1400G>A (p.Gly467Glu) c.1118G>A (p.Gly373Glu) c.845G>A (p.Gly282Glu) c.1106G>A (p.Gly369Glu) | ClinVar gnomAD v4 |
| 1 | g.40303821C>A | CA339879249 | COL9A2 | c.1387G>T (p.Gly463Trp) c.198G>T (p.Arg66=) n.352G>T n.1690G>T c.1399G>T (p.Gly467Trp) c.1117G>T (p.Gly373Trp) c.844G>T (p.Gly282Trp) c.1105G>T (p.Gly369Trp) | gnomAD v4 |
| 1 | g.40303821C>G | CA339879253 | COL9A2 | c.1387G>C (p.Gly463Arg) c.198G>C (p.Arg66=) n.352G>C n.1690G>C c.1399G>C (p.Gly467Arg) c.1117G>C (p.Gly373Arg) c.844G>C (p.Gly282Arg) c.1105G>C (p.Gly369Arg) | |
| 1 | g.40303821C>T | CA339879248 | COL9A2 | c.1387G>A (p.Gly463Arg) c.198G>A (p.Arg66=) n.352G>A n.1690G>A c.1399G>A (p.Gly467Arg) c.1117G>A (p.Gly373Arg) c.844G>A (p.Gly282Arg) c.1105G>A (p.Gly369Arg) | gnomAD v4 |