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.40301283_40301293del | CA2533325721 | COL9A2 | c.1961_1971del (p.Leu654ArgfsTer8) n.2264_2274del c.1973_1983del (p.Leu658ArgfsTer8) c.1691_1701del (p.Leu564ArgfsTer8) c.1418_1428del (p.Leu473ArgfsTer8) c.1679_1689del (p.Leu560ArgfsTer8) | |
| 1 | g.40301289G>A | CA339874014 | COL9A2 | c.1963C>T (p.Pro655Ser) n.2266C>T c.1975C>T (p.Pro659Ser) c.1693C>T (p.Pro565Ser) c.1420C>T (p.Pro474Ser) c.1681C>T (p.Pro561Ser) | |
| 1 | g.40301289G>C | CA339874016 | COL9A2 | c.1963C>G (p.Pro655Ala) n.2266C>G c.1975C>G (p.Pro659Ala) c.1693C>G (p.Pro565Ala) c.1420C>G (p.Pro474Ala) c.1681C>G (p.Pro561Ala) | |
| 1 | g.40301289G>T | CA339874018 | COL9A2 | c.1963C>A (p.Pro655Thr) n.2266C>A c.1975C>A (p.Pro659Thr) c.1693C>A (p.Pro565Thr) c.1420C>A (p.Pro474Thr) c.1681C>A (p.Pro561Thr) | |
| 1 | g.40301290C>A | CA791268 | COL9A2 | c.1962G>T (p.Leu654=) n.2265G>T c.1974G>T (p.Leu658=) c.1692G>T (p.Leu564=) c.1419G>T (p.Leu473=) c.1680G>T (p.Leu560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40301290C= | CA1141893345 | COL9A2 | c.1962G= (p.Leu654=) n.2265G= c.1974G= (p.Leu658=) c.1692G= (p.Leu564=) c.1419G= (p.Leu473=) c.1680G= (p.Leu560=) | |
| 1 | g.40301290C>G | CA417330406 | COL9A2 | c.1962G>C (p.Leu654=) n.2265G>C c.1974G>C (p.Leu658=) c.1692G>C (p.Leu564=) c.1419G>C (p.Leu473=) c.1680G>C (p.Leu560=) | gnomAD v4 |
| 1 | g.40301290C>T | CA417330407 | COL9A2 | c.1962G>A (p.Leu654=) n.2265G>A c.1974G>A (p.Leu658=) c.1692G>A (p.Leu564=) c.1419G>A (p.Leu473=) c.1680G>A (p.Leu560=) | |
| 1 | g.40301291A= | CA1164335121 | COL9A2 | c.1961T= (p.Leu654=) n.2264T= c.1973T= (p.Leu658=) c.1691T= (p.Leu564=) c.1418T= (p.Leu473=) c.1679T= (p.Leu560=) | |
| 1 | g.40301291A>C | CA339874023 | COL9A2 | c.1961T>G (p.Leu654Arg) n.2264T>G c.1973T>G (p.Leu658Arg) c.1691T>G (p.Leu564Arg) c.1418T>G (p.Leu473Arg) c.1679T>G (p.Leu560Arg) | |
| 1 | g.40301291A>G | CA791269 | COL9A2 | c.1961T>C (p.Leu654Pro) n.2264T>C c.1973T>C (p.Leu658Pro) c.1691T>C (p.Leu564Pro) c.1418T>C (p.Leu473Pro) c.1679T>C (p.Leu560Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40301291A>T | CA339874026 | COL9A2 | c.1961T>A (p.Leu654Gln) n.2264T>A c.1973T>A (p.Leu658Gln) c.1691T>A (p.Leu564Gln) c.1418T>A (p.Leu473Gln) c.1679T>A (p.Leu560Gln) | |
| 1 | g.40301292G>A | CA417330408 | COL9A2 | c.1960C>T (p.Leu654=) n.2263C>T c.1972C>T (p.Leu658=) c.1690C>T (p.Leu564=) c.1417C>T (p.Leu473=) c.1678C>T (p.Leu560=) | |
| 1 | g.40301292G>C | CA339874028 | COL9A2 | c.1960C>G (p.Leu654Val) n.2263C>G c.1972C>G (p.Leu658Val) c.1690C>G (p.Leu564Val) c.1417C>G (p.Leu473Val) c.1678C>G (p.Leu560Val) | |
| 1 | g.40301292G>T | CA339874030 | COL9A2 | c.1960C>A (p.Leu654Met) n.2263C>A c.1972C>A (p.Leu658Met) c.1690C>A (p.Leu564Met) c.1417C>A (p.Leu473Met) c.1678C>A (p.Leu560Met) | |
| 1 | g.40301293G>A | CA417330409 | COL9A2 | c.1959C>T (p.Gly653=) n.2262C>T c.1971C>T (p.Gly657=) c.1689C>T (p.Gly563=) c.1416C>T (p.Gly472=) c.1677C>T (p.Gly559=) | gnomAD v4 |
| 1 | g.40301293G>C | CA417330410 | COL9A2 | c.1959C>G (p.Gly653=) n.2262C>G c.1971C>G (p.Gly657=) c.1689C>G (p.Gly563=) c.1416C>G (p.Gly472=) c.1677C>G (p.Gly559=) | |
| 1 | g.40301293G>T | CA417330411 | COL9A2 | c.1959C>A (p.Gly653=) n.2262C>A c.1971C>A (p.Gly657=) c.1689C>A (p.Gly563=) c.1416C>A (p.Gly472=) c.1677C>A (p.Gly559=) | |
| 1 | g.40301294C>A | CA339874032 | COL9A2 | c.1958G>T (p.Gly653Val) n.2261G>T c.1970G>T (p.Gly657Val) c.1688G>T (p.Gly563Val) c.1415G>T (p.Gly472Val) c.1676G>T (p.Gly559Val) | |
| 1 | g.40301294C>G | CA339874033 | COL9A2 | c.1958G>C (p.Gly653Ala) n.2261G>C c.1970G>C (p.Gly657Ala) c.1688G>C (p.Gly563Ala) c.1415G>C (p.Gly472Ala) c.1676G>C (p.Gly559Ala) | |
| 1 | g.40301294C>T | CA339874035 | COL9A2 | c.1958G>A (p.Gly653Asp) n.2261G>A c.1970G>A (p.Gly657Asp) c.1688G>A (p.Gly563Asp) c.1415G>A (p.Gly472Asp) c.1676G>A (p.Gly559Asp) | |
| 1 | g.40301295C>A | CA339874040 | COL9A2 | c.1957G>T (p.Gly653Cys) n.2260G>T c.1969G>T (p.Gly657Cys) c.1687G>T (p.Gly563Cys) c.1414G>T (p.Gly472Cys) c.1675G>T (p.Gly559Cys) | |
| 1 | g.40301295C>G | CA339874042 | COL9A2 | c.1957G>C (p.Gly653Arg) n.2260G>C c.1969G>C (p.Gly657Arg) c.1687G>C (p.Gly563Arg) c.1414G>C (p.Gly472Arg) c.1675G>C (p.Gly559Arg) | |
| 1 | g.40301295C>T | CA339874038 | COL9A2 | c.1957G>A (p.Gly653Ser) n.2260G>A c.1969G>A (p.Gly657Ser) c.1687G>A (p.Gly563Ser) c.1414G>A (p.Gly472Ser) c.1675G>A (p.Gly559Ser) | |
| 1 | g.40301296A>C | CA417330412 | COL9A2 | c.1956T>G (p.Pro652=) n.2259T>G c.1968T>G (p.Pro656=) c.1686T>G (p.Pro562=) c.1413T>G (p.Pro471=) c.1674T>G (p.Pro558=) | |
| 1 | g.40301296A>G | CA417330413 | COL9A2 | c.1956T>C (p.Pro652=) n.2259T>C c.1968T>C (p.Pro656=) c.1686T>C (p.Pro562=) c.1413T>C (p.Pro471=) c.1674T>C (p.Pro558=) | gnomAD v4 |
| 1 | g.40301296A>T | CA417330414 | COL9A2 | c.1956T>A (p.Pro652=) n.2259T>A c.1968T>A (p.Pro656=) c.1686T>A (p.Pro562=) c.1413T>A (p.Pro471=) c.1674T>A (p.Pro558=) | |
| 1 | g.40301297G>A | CA21041054 | COL9A2 | c.1955C>T (p.Pro652Leu) n.2258C>T c.1967C>T (p.Pro656Leu) c.1685C>T (p.Pro562Leu) c.1412C>T (p.Pro471Leu) c.1673C>T (p.Pro558Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40301297G>C | CA21041055 | COL9A2 | c.1955C>G (p.Pro652Arg) n.2258C>G c.1967C>G (p.Pro656Arg) c.1685C>G (p.Pro562Arg) c.1412C>G (p.Pro471Arg) c.1673C>G (p.Pro558Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40301297G= | CA1164335122 | COL9A2 | c.1955C= (p.Pro652=) n.2258C= c.1967C= (p.Pro656=) c.1685C= (p.Pro562=) c.1412C= (p.Pro471=) c.1673C= (p.Pro558=) | |
| 1 | g.40301297G>T | CA339874047 | COL9A2 | c.1955C>A (p.Pro652His) n.2258C>A c.1967C>A (p.Pro656His) c.1685C>A (p.Pro562His) c.1412C>A (p.Pro471His) c.1673C>A (p.Pro558His) | |
| 1 | g.40301298G>A | CA339874051 | COL9A2 | c.1954C>T (p.Pro652Ser) n.2257C>T c.1966C>T (p.Pro656Ser) c.1684C>T (p.Pro562Ser) c.1411C>T (p.Pro471Ser) c.1672C>T (p.Pro558Ser) | |
| 1 | g.40301298G>C | CA339874053 | COL9A2 | c.1954C>G (p.Pro652Ala) n.2257C>G c.1966C>G (p.Pro656Ala) c.1684C>G (p.Pro562Ala) c.1411C>G (p.Pro471Ala) c.1672C>G (p.Pro558Ala) | |
| 1 | g.40301298G>T | CA339874055 | COL9A2 | c.1954C>A (p.Pro652Thr) n.2257C>A c.1966C>A (p.Pro656Thr) c.1684C>A (p.Pro562Thr) c.1411C>A (p.Pro471Thr) c.1672C>A (p.Pro558Thr) | ClinVar dbSNP |
| 1 | g.40301299T>A | CA417330415 | COL9A2 | c.1953A>T (p.Arg651=) n.2256A>T c.1965A>T (p.Arg655=) c.1683A>T (p.Arg561=) c.1410A>T (p.Arg470=) c.1671A>T (p.Arg557=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40301299T>C | CA417330416 | COL9A2 | c.1953A>G (p.Arg651=) n.2256A>G c.1965A>G (p.Arg655=) c.1683A>G (p.Arg561=) c.1410A>G (p.Arg470=) c.1671A>G (p.Arg557=) | |
| 1 | g.40301299T>G | CA417330417 | COL9A2 | c.1953A>C (p.Arg651=) n.2256A>C c.1965A>C (p.Arg655=) c.1683A>C (p.Arg561=) c.1410A>C (p.Arg470=) c.1671A>C (p.Arg557=) | dbSNP gnomAD v4 |
| 1 | g.40301299T= | CA1164335123 | COL9A2 | c.1953A= (p.Arg651=) n.2256A= c.1965A= (p.Arg655=) c.1683A= (p.Arg561=) c.1410A= (p.Arg470=) c.1671A= (p.Arg557=) | |
| 1 | g.40301300C>A | CA339874061 | COL9A2 | c.1952G>T (p.Arg651Leu) n.2255G>T c.1964G>T (p.Arg655Leu) c.1682G>T (p.Arg561Leu) c.1409G>T (p.Arg470Leu) c.1670G>T (p.Arg557Leu) | ClinVar |
| 1 | g.40301300C= | CA1143378887 | COL9A2 | c.1952G= (p.Arg651=) n.2255G= c.1964G= (p.Arg655=) c.1682G= (p.Arg561=) c.1409G= (p.Arg470=) c.1670G= (p.Arg557=) | |
| 1 | g.40301300C>G | CA339874059 | COL9A2 | c.1952G>C (p.Arg651Pro) n.2255G>C c.1964G>C (p.Arg655Pro) c.1682G>C (p.Arg561Pro) c.1409G>C (p.Arg470Pro) c.1670G>C (p.Arg557Pro) | |
| 1 | g.40301300C>T | CA791270 | COL9A2 | c.1952G>A (p.Arg651Gln) n.2255G>A c.1964G>A (p.Arg655Gln) c.1682G>A (p.Arg561Gln) c.1409G>A (p.Arg470Gln) c.1670G>A (p.Arg557Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.40301301G>A | CA791271 | COL9A2 | c.1951C>T (p.Arg651Ter) n.2254C>T c.1963C>T (p.Arg655Ter) c.1681C>T (p.Arg561Ter) c.1408C>T (p.Arg470Ter) c.1669C>T (p.Arg557Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40301301G>C | CA339874064 | COL9A2 | c.1951C>G (p.Arg651Gly) n.2254C>G c.1963C>G (p.Arg655Gly) c.1681C>G (p.Arg561Gly) c.1408C>G (p.Arg470Gly) c.1669C>G (p.Arg557Gly) | ClinVar |
| 1 | g.40301301G= | CA1164335124 | COL9A2 | c.1951C= (p.Arg651=) n.2254C= c.1963C= (p.Arg655=) c.1681C= (p.Arg561=) c.1408C= (p.Arg470=) c.1669C= (p.Arg557=) | |
| 1 | g.40301301G>T | CA417330418 | COL9A2 | c.1951C>A (p.Arg651=) n.2254C>A c.1963C>A (p.Arg655=) c.1681C>A (p.Arg561=) c.1408C>A (p.Arg470=) c.1669C>A (p.Arg557=) | |
| 1 | g.40301302A= | CA1164335125 | COL9A2 | c.1950T= (p.Gly650=) n.2253T= c.1962T= (p.Gly654=) c.1680T= (p.Gly560=) c.1407T= (p.Gly469=) c.1668T= (p.Gly556=) | |
| 1 | g.40301302A>C | CA791272 | COL9A2 | c.1950T>G (p.Gly650=) n.2253T>G c.1962T>G (p.Gly654=) c.1680T>G (p.Gly560=) c.1407T>G (p.Gly469=) c.1668T>G (p.Gly556=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40301302A>G | CA417330420 | COL9A2 | c.1950T>C (p.Gly650=) n.2253T>C c.1962T>C (p.Gly654=) c.1680T>C (p.Gly560=) c.1407T>C (p.Gly469=) c.1668T>C (p.Gly556=) | |
| 1 | g.40301302A>T | CA417330419 | COL9A2 | c.1950T>A (p.Gly650=) n.2253T>A c.1962T>A (p.Gly654=) c.1680T>A (p.Gly560=) c.1407T>A (p.Gly469=) c.1668T>A (p.Gly556=) | gnomAD v4 |