| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47983552_47986872del | CA658797886 | COL2A1 | c.1181_1789-108del c.1388_1996-108del n.312_920-108del c.1532_2140-108del c.1529_2137-108del c.476_1084-108del c.1322_1930-108del c.842_1450-108del | ClinVar |
| 12 | g.47985946C>A | CA384552130 | COL2A1 | c.1340G>T (p.Gly447Val) c.1547G>T (p.Gly516Val) n.471G>T c.1691G>T (p.Gly564Val) c.1688G>T (p.Gly563Val) c.635G>T (p.Gly212Val) c.1481G>T (p.Gly494Val) c.1001G>T (p.Gly334Val) | |
| 12 | g.47985946C= | CA2034456232 | COL2A1 | c.1340G= (p.Gly447=) c.1547G= (p.Gly516=) n.471G= c.1691G= (p.Gly564=) c.1688G= (p.Gly563=) c.635G= (p.Gly212=) c.1481G= (p.Gly494=) c.1001G= (p.Gly334=) | |
| 12 | g.47985946C>G | CA384552133 | COL2A1 | c.1340G>C (p.Gly447Ala) c.1547G>C (p.Gly516Ala) n.471G>C c.1691G>C (p.Gly564Ala) c.1688G>C (p.Gly563Ala) c.635G>C (p.Gly212Ala) c.1481G>C (p.Gly494Ala) c.1001G>C (p.Gly334Ala) | |
| 12 | g.47985946C>T | CA250701 | COL2A1 | c.1340G>A (p.Gly447Asp) c.1547G>A (p.Gly516Asp) n.471G>A c.1691G>A (p.Gly564Asp) c.1688G>A (p.Gly563Asp) c.635G>A (p.Gly212Asp) c.1481G>A (p.Gly494Asp) c.1001G>A (p.Gly334Asp) | ClinVar dbSNP |
| 12 | g.47985947C>A | CA384552139 | COL2A1 | c.1339G>T (p.Gly447Cys) c.1546G>T (p.Gly516Cys) n.470G>T c.1690G>T (p.Gly564Cys) c.1687G>T (p.Gly563Cys) c.634G>T (p.Gly212Cys) c.1480G>T (p.Gly494Cys) c.1000G>T (p.Gly334Cys) | |
| 12 | g.47985947C= | CA2034456239 | COL2A1 | c.1339G= (p.Gly447=) c.1546G= (p.Gly516=) n.470G= c.1690G= (p.Gly564=) c.1687G= (p.Gly563=) c.634G= (p.Gly212=) c.1480G= (p.Gly494=) c.1000G= (p.Gly334=) | |
| 12 | g.47985947C>G | CA384552142 | COL2A1 | c.1339G>C (p.Gly447Arg) c.1546G>C (p.Gly516Arg) n.470G>C c.1690G>C (p.Gly564Arg) c.1687G>C (p.Gly563Arg) c.634G>C (p.Gly212Arg) c.1480G>C (p.Gly494Arg) c.1000G>C (p.Gly334Arg) | |
| 12 | g.47985947C>T | CA10603265 | COL2A1 | c.1339G>A (p.Gly447Ser) c.1546G>A (p.Gly516Ser) n.470G>A c.1690G>A (p.Gly564Ser) c.1687G>A (p.Gly563Ser) c.634G>A (p.Gly212Ser) c.1480G>A (p.Gly494Ser) c.1000G>A (p.Gly334Ser) | ClinVar dbSNP |
| 12 | g.47985948G>A | CA6535456 | COL2A1 | c.1338C>T (p.Arg446=) c.1545C>T (p.Arg515=) n.469C>T c.1689C>T (p.Arg563=) c.1686C>T (p.Arg562=) c.633C>T (p.Arg211=) c.1479C>T (p.Arg493=) c.999C>T (p.Arg333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47985948G>C | CA479470700 | COL2A1 | c.1338C>G (p.Arg446=) c.1545C>G (p.Arg515=) n.469C>G c.1689C>G (p.Arg563=) c.1686C>G (p.Arg562=) c.633C>G (p.Arg211=) c.1479C>G (p.Arg493=) c.999C>G (p.Arg333=) | |
| 12 | g.47985948G= | CA2034456242 | COL2A1 | c.1338C= (p.Arg446=) c.1545C= (p.Arg515=) n.469C= c.1689C= (p.Arg563=) c.1686C= (p.Arg562=) c.633C= (p.Arg211=) c.1479C= (p.Arg493=) c.999C= (p.Arg333=) | |
| 12 | g.47985948G>T | CA6535455 | COL2A1 | c.1338C>A (p.Arg446=) c.1545C>A (p.Arg515=) n.469C>A c.1689C>A (p.Arg563=) c.1686C>A (p.Arg562=) c.633C>A (p.Arg211=) c.1479C>A (p.Arg493=) c.999C>A (p.Arg333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985949C>A | CA384552151 | COL2A1 | c.1337G>T (p.Arg446Leu) c.1544G>T (p.Arg515Leu) n.468G>T c.1688G>T (p.Arg563Leu) c.1685G>T (p.Arg562Leu) c.632G>T (p.Arg211Leu) c.1478G>T (p.Arg493Leu) c.998G>T (p.Arg333Leu) | |
| 12 | g.47985949C= | CA2034456246 | COL2A1 | c.1337G= (p.Arg446=) c.1544G= (p.Arg515=) n.468G= c.1688G= (p.Arg563=) c.1685G= (p.Arg562=) c.632G= (p.Arg211=) c.1478G= (p.Arg493=) c.998G= (p.Arg333=) | |
| 12 | g.47985949C>G | CA384552160 | COL2A1 | c.1337G>C (p.Arg446Pro) c.1544G>C (p.Arg515Pro) n.468G>C c.1688G>C (p.Arg563Pro) c.1685G>C (p.Arg562Pro) c.632G>C (p.Arg211Pro) c.1478G>C (p.Arg493Pro) c.998G>C (p.Arg333Pro) | |
| 12 | g.47985949C>T | CA384552163 | COL2A1 | c.1337G>A (p.Arg446His) c.1544G>A (p.Arg515His) n.468G>A c.1688G>A (p.Arg563His) c.1685G>A (p.Arg562His) c.632G>A (p.Arg211His) c.1478G>A (p.Arg493His) c.998G>A (p.Arg333His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47985950G>A | CA10605694 | COL2A1 | c.1336C>T (p.Arg446Cys) c.1543C>T (p.Arg515Cys) n.467C>T c.1687C>T (p.Arg563Cys) c.1684C>T (p.Arg562Cys) c.631C>T (p.Arg211Cys) c.1477C>T (p.Arg493Cys) c.997C>T (p.Arg333Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985950G>C | CA384552168 | COL2A1 | c.1336C>G (p.Arg446Gly) c.1543C>G (p.Arg515Gly) n.467C>G c.1687C>G (p.Arg563Gly) c.1684C>G (p.Arg562Gly) c.631C>G (p.Arg211Gly) c.1477C>G (p.Arg493Gly) c.997C>G (p.Arg333Gly) | |
| 12 | g.47985950G= | CA2034456250 | COL2A1 | c.1336C= (p.Arg446=) c.1543C= (p.Arg515=) n.467C= c.1687C= (p.Arg563=) c.1684C= (p.Arg562=) c.631C= (p.Arg211=) c.1477C= (p.Arg493=) c.997C= (p.Arg333=) | |
| 12 | g.47985950G>T | CA384552174 | COL2A1 | c.1336C>A (p.Arg446Ser) c.1543C>A (p.Arg515Ser) n.467C>A c.1687C>A (p.Arg563Ser) c.1684C>A (p.Arg562Ser) c.631C>A (p.Arg211Ser) c.1477C>A (p.Arg493Ser) c.997C>A (p.Arg333Ser) | |
| 12 | g.47985951G>A | CA479470732 | COL2A1 | c.1335C>T (p.Asn445=) c.1542C>T (p.Asn514=) n.466C>T c.1686C>T (p.Asn562=) c.1683C>T (p.Asn561=) c.630C>T (p.Asn210=) c.1476C>T (p.Asn492=) c.996C>T (p.Asn332=) | |
| 12 | g.47985951G>C | CA384552176 | COL2A1 | c.1335C>G (p.Asn445Lys) c.1542C>G (p.Asn514Lys) n.466C>G c.1686C>G (p.Asn562Lys) c.1683C>G (p.Asn561Lys) c.630C>G (p.Asn210Lys) c.1476C>G (p.Asn492Lys) c.996C>G (p.Asn332Lys) | |
| 12 | g.47985951G>T | CA384552179 | COL2A1 | c.1335C>A (p.Asn445Lys) c.1542C>A (p.Asn514Lys) n.466C>A c.1686C>A (p.Asn562Lys) c.1683C>A (p.Asn561Lys) c.630C>A (p.Asn210Lys) c.1476C>A (p.Asn492Lys) c.996C>A (p.Asn332Lys) | |
| 12 | g.47985952T>A | CA384552182 | COL2A1 | c.1334A>T (p.Asn445Ile) c.1541A>T (p.Asn514Ile) n.465A>T c.1685A>T (p.Asn562Ile) c.1682A>T (p.Asn561Ile) c.629A>T (p.Asn210Ile) c.1475A>T (p.Asn492Ile) c.995A>T (p.Asn332Ile) | |
| 12 | g.47985952T>C | CA384552183 | COL2A1 | c.1334A>G (p.Asn445Ser) c.1541A>G (p.Asn514Ser) n.465A>G c.1685A>G (p.Asn562Ser) c.1682A>G (p.Asn561Ser) c.629A>G (p.Asn210Ser) c.1475A>G (p.Asn492Ser) c.995A>G (p.Asn332Ser) | |
| 12 | g.47985952T>G | CA384552184 | COL2A1 | c.1334A>C (p.Asn445Thr) c.1541A>C (p.Asn514Thr) n.465A>C c.1685A>C (p.Asn562Thr) c.1682A>C (p.Asn561Thr) c.629A>C (p.Asn210Thr) c.1475A>C (p.Asn492Thr) c.995A>C (p.Asn332Thr) | ClinVar |
| 12 | g.47985953T>A | CA384552190 | COL2A1 | c.1333A>T (p.Asn445Tyr) c.1540A>T (p.Asn514Tyr) n.464A>T c.1684A>T (p.Asn562Tyr) c.1681A>T (p.Asn561Tyr) c.628A>T (p.Asn210Tyr) c.1474A>T (p.Asn492Tyr) c.994A>T (p.Asn332Tyr) | |
| 12 | g.47985953T>C | CA384552187 | COL2A1 | c.1333A>G (p.Asn445Asp) c.1540A>G (p.Asn514Asp) n.464A>G c.1684A>G (p.Asn562Asp) c.1681A>G (p.Asn561Asp) c.628A>G (p.Asn210Asp) c.1474A>G (p.Asn492Asp) c.994A>G (p.Asn332Asp) | |
| 12 | g.47985953T>G | CA384552185 | COL2A1 | c.1333A>C (p.Asn445His) c.1540A>C (p.Asn514His) n.464A>C c.1684A>C (p.Asn562His) c.1681A>C (p.Asn561His) c.628A>C (p.Asn210His) c.1474A>C (p.Asn492His) c.994A>C (p.Asn332His) | gnomAD v4 |
| 12 | g.47985954G>A | CA479470774 | COL2A1 | c.1332C>T (p.Gly444=) c.1539C>T (p.Gly513=) n.463C>T c.1683C>T (p.Gly561=) c.1680C>T (p.Gly560=) c.627C>T (p.Gly209=) c.1473C>T (p.Gly491=) c.993C>T (p.Gly331=) | |
| 12 | g.47985954G>C | CA479470777 | COL2A1 | c.1332C>G (p.Gly444=) c.1539C>G (p.Gly513=) n.463C>G c.1683C>G (p.Gly561=) c.1680C>G (p.Gly560=) c.627C>G (p.Gly209=) c.1473C>G (p.Gly491=) c.993C>G (p.Gly331=) | |
| 12 | g.47985954G= | CA2034456257 | COL2A1 | c.1332C= (p.Gly444=) c.1539C= (p.Gly513=) n.463C= c.1683C= (p.Gly561=) c.1680C= (p.Gly560=) c.627C= (p.Gly209=) c.1473C= (p.Gly491=) c.993C= (p.Gly331=) | |
| 12 | g.47985954G>T | CA236527531 | COL2A1 | c.1332C>A (p.Gly444=) c.1539C>A (p.Gly513=) n.463C>A c.1683C>A (p.Gly561=) c.1680C>A (p.Gly560=) c.627C>A (p.Gly209=) c.1473C>A (p.Gly491=) c.993C>A (p.Gly331=) | dbSNP |
| 12 | g.47985955C>A | CA384552199 | COL2A1 | c.1331G>T (p.Gly444Val) c.1538G>T (p.Gly513Val) n.462G>T c.1682G>T (p.Gly561Val) c.1679G>T (p.Gly560Val) c.626G>T (p.Gly209Val) c.1472G>T (p.Gly491Val) c.992G>T (p.Gly331Val) | |
| 12 | g.47985955C>G | CA384552196 | COL2A1 | c.1331G>C (p.Gly444Ala) c.1538G>C (p.Gly513Ala) n.462G>C c.1682G>C (p.Gly561Ala) c.1679G>C (p.Gly560Ala) c.626G>C (p.Gly209Ala) c.1472G>C (p.Gly491Ala) c.992G>C (p.Gly331Ala) | |
| 12 | g.47985955C>T | CA384552201 | COL2A1 | c.1331G>A (p.Gly444Asp) c.1538G>A (p.Gly513Asp) n.462G>A c.1682G>A (p.Gly561Asp) c.1679G>A (p.Gly560Asp) c.626G>A (p.Gly209Asp) c.1472G>A (p.Gly491Asp) c.992G>A (p.Gly331Asp) | |
| 12 | g.47985956C>A | CA384552205 | COL2A1 | c.1330G>T (p.Gly444Cys) c.1537G>T (p.Gly513Cys) n.461G>T c.1681G>T (p.Gly561Cys) c.1678G>T (p.Gly560Cys) c.625G>T (p.Gly209Cys) c.1471G>T (p.Gly491Cys) c.991G>T (p.Gly331Cys) | |
| 12 | g.47985956C= | CA2034456266 | COL2A1 | c.1330G= (p.Gly444=) c.1537G= (p.Gly513=) n.461G= c.1681G= (p.Gly561=) c.1678G= (p.Gly560=) c.625G= (p.Gly209=) c.1471G= (p.Gly491=) c.991G= (p.Gly331=) | |
| 12 | g.47985956C>G | CA384552207 | COL2A1 | c.1330G>C (p.Gly444Arg) c.1537G>C (p.Gly513Arg) n.461G>C c.1681G>C (p.Gly561Arg) c.1678G>C (p.Gly560Arg) c.625G>C (p.Gly209Arg) c.1471G>C (p.Gly491Arg) c.991G>C (p.Gly331Arg) | |
| 12 | g.47985956C>T | CA384552209 | COL2A1 | c.1330G>A (p.Gly444Ser) c.1537G>A (p.Gly513Ser) n.461G>A c.1681G>A (p.Gly561Ser) c.1678G>A (p.Gly560Ser) c.625G>A (p.Gly209Ser) c.1471G>A (p.Gly491Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP |
| 12 | g.47985957G>A | CA236527533 | COL2A1 | c.1329C>T (p.Pro443=) c.1536C>T (p.Pro512=) n.460C>T c.1680C>T (p.Pro560=) c.1677C>T (p.Pro559=) c.624C>T (p.Pro208=) c.1470C>T (p.Pro490=) c.990C>T (p.Pro330=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985957G>C | CA479470798 | COL2A1 | c.1329C>G (p.Pro443=) c.1536C>G (p.Pro512=) n.460C>G c.1680C>G (p.Pro560=) c.1677C>G (p.Pro559=) c.624C>G (p.Pro208=) c.1470C>G (p.Pro490=) c.990C>G (p.Pro330=) | dbSNP gnomAD v4 |
| 12 | g.47985957G= | CA2034456272 | COL2A1 | c.1329C= (p.Pro443=) c.1536C= (p.Pro512=) n.460C= c.1680C= (p.Pro560=) c.1677C= (p.Pro559=) c.624C= (p.Pro208=) c.1470C= (p.Pro490=) c.990C= (p.Pro330=) | |
| 12 | g.47985957G>T | CA479470799 | COL2A1 | c.1329C>A (p.Pro443=) c.1536C>A (p.Pro512=) n.460C>A c.1680C>A (p.Pro560=) c.1677C>A (p.Pro559=) c.624C>A (p.Pro208=) c.1470C>A (p.Pro490=) c.990C>A (p.Pro330=) | gnomAD v4 |
| 12 | g.47985958G>A | CA384552215 | COL2A1 | c.1328C>T (p.Pro443Leu) c.1535C>T (p.Pro512Leu) n.459C>T c.1679C>T (p.Pro560Leu) c.1676C>T (p.Pro559Leu) c.623C>T (p.Pro208Leu) c.1469C>T (p.Pro490Leu) c.989C>T (p.Pro330Leu) | |
| 12 | g.47985958G>C | CA384552216 | COL2A1 | c.1328C>G (p.Pro443Arg) c.1535C>G (p.Pro512Arg) n.459C>G c.1679C>G (p.Pro560Arg) c.1676C>G (p.Pro559Arg) c.623C>G (p.Pro208Arg) c.1469C>G (p.Pro490Arg) c.989C>G (p.Pro330Arg) | |
| 12 | g.47985958G>T | CA384552217 | COL2A1 | c.1328C>A (p.Pro443His) c.1535C>A (p.Pro512His) n.459C>A c.1679C>A (p.Pro560His) c.1676C>A (p.Pro559His) c.623C>A (p.Pro208His) c.1469C>A (p.Pro490His) c.989C>A (p.Pro330His) | |
| 12 | g.47985959G>A | CA384552219 | COL2A1 | c.1327C>T (p.Pro443Ser) c.1534C>T (p.Pro512Ser) n.458C>T c.1678C>T (p.Pro560Ser) c.1675C>T (p.Pro559Ser) c.622C>T (p.Pro208Ser) c.1468C>T (p.Pro490Ser) c.988C>T (p.Pro330Ser) | dbSNP gnomAD v4 |
| 12 | g.47985959G>C | CA384552220 | COL2A1 | c.1327C>G (p.Pro443Ala) c.1534C>G (p.Pro512Ala) n.458C>G c.1678C>G (p.Pro560Ala) c.1675C>G (p.Pro559Ala) c.622C>G (p.Pro208Ala) c.1468C>G (p.Pro490Ala) c.988C>G (p.Pro330Ala) |