| 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.47983721G>A | CA127176 | COL2A1 | c.1750C>T (p.Arg584Ter) c.1957C>T (p.Arg653Ter) n.135C>T n.881C>T c.2101C>T (p.Arg701Ter) c.2098C>T (p.Arg700Ter) c.1045C>T (p.Arg349Ter) c.1891C>T (p.Arg631Ter) c.1411C>T (p.Arg471Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47983721G>C | CA384548541 | COL2A1 | c.1750C>G (p.Arg584Gly) c.1957C>G (p.Arg653Gly) n.135C>G n.881C>G c.2101C>G (p.Arg701Gly) c.2098C>G (p.Arg700Gly) c.1045C>G (p.Arg349Gly) c.1891C>G (p.Arg631Gly) c.1411C>G (p.Arg471Gly) | |
| 12 | g.47983721G= | CA2034452236 | COL2A1 | c.1750C= (p.Arg584=) c.1957C= (p.Arg653=) n.135C= n.881C= c.2101C= (p.Arg701=) c.2098C= (p.Arg700=) c.1045C= (p.Arg349=) c.1891C= (p.Arg631=) c.1411C= (p.Arg471=) | |
| 12 | g.47983721G>T | CA479465137 | COL2A1 | c.1750C>A (p.Arg584=) c.1957C>A (p.Arg653=) n.135C>A n.881C>A c.2101C>A (p.Arg701=) c.2098C>A (p.Arg700=) c.1045C>A (p.Arg349=) c.1891C>A (p.Arg631=) c.1411C>A (p.Arg471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47983722T>A | CA384548542 | COL2A1 | c.1749A>T (p.Glu583Asp) c.1956A>T (p.Glu652Asp) n.134A>T n.880A>T c.2100A>T (p.Glu700Asp) c.2097A>T (p.Glu699Asp) c.1044A>T (p.Glu348Asp) c.1890A>T (p.Glu630Asp) c.1410A>T (p.Glu470Asp) | |
| 12 | g.47983722T>C | CA479465142 | COL2A1 | c.1749A>G (p.Glu583=) c.1956A>G (p.Glu652=) n.134A>G n.880A>G c.2100A>G (p.Glu700=) c.2097A>G (p.Glu699=) c.1044A>G (p.Glu348=) c.1890A>G (p.Glu630=) c.1410A>G (p.Glu470=) | gnomAD v4 |
| 12 | g.47983722T>G | CA384548543 | COL2A1 | c.1749A>C (p.Glu583Asp) c.1956A>C (p.Glu652Asp) n.134A>C n.880A>C c.2100A>C (p.Glu700Asp) c.2097A>C (p.Glu699Asp) c.1044A>C (p.Glu348Asp) c.1890A>C (p.Glu630Asp) c.1410A>C (p.Glu470Asp) | |
| 12 | g.47983723T>A | CA384548545 | COL2A1 | c.1748A>T (p.Glu583Val) c.1955A>T (p.Glu652Val) n.133A>T n.879A>T c.2099A>T (p.Glu700Val) c.2096A>T (p.Glu699Val) c.1043A>T (p.Glu348Val) c.1889A>T (p.Glu630Val) c.1409A>T (p.Glu470Val) | |
| 12 | g.47983723T>C | CA384548546 | COL2A1 | c.1748A>G (p.Glu583Gly) c.1955A>G (p.Glu652Gly) n.133A>G n.879A>G c.2099A>G (p.Glu700Gly) c.2096A>G (p.Glu699Gly) c.1043A>G (p.Glu348Gly) c.1889A>G (p.Glu630Gly) c.1409A>G (p.Glu470Gly) | ClinVar dbSNP |
| 12 | g.47983723T>G | CA384548551 | COL2A1 | c.1748A>C (p.Glu583Ala) c.1955A>C (p.Glu652Ala) n.133A>C n.879A>C c.2099A>C (p.Glu700Ala) c.2096A>C (p.Glu699Ala) c.1043A>C (p.Glu348Ala) c.1889A>C (p.Glu630Ala) c.1409A>C (p.Glu470Ala) | |
| 12 | g.47983724C>A | CA384548559 | COL2A1 | c.1747G>T (p.Glu583Ter) c.1954G>T (p.Glu652Ter) n.132G>T n.878G>T c.2098G>T (p.Glu700Ter) c.2095G>T (p.Glu699Ter) c.1042G>T (p.Glu348Ter) c.1888G>T (p.Glu630Ter) c.1408G>T (p.Glu470Ter) | gnomAD v4 |
| 12 | g.47983724C= | CA2034452241 | COL2A1 | c.1747G= (p.Glu583=) c.1954G= (p.Glu652=) n.132G= n.878G= c.2098G= (p.Glu700=) c.2095G= (p.Glu699=) c.1042G= (p.Glu348=) c.1888G= (p.Glu630=) c.1408G= (p.Glu470=) | |
| 12 | g.47983724C>G | CA384548560 | COL2A1 | c.1747G>C (p.Glu583Gln) c.1954G>C (p.Glu652Gln) n.132G>C n.878G>C c.2098G>C (p.Glu700Gln) c.2095G>C (p.Glu699Gln) c.1042G>C (p.Glu348Gln) c.1888G>C (p.Glu630Gln) c.1408G>C (p.Glu470Gln) | |
| 12 | g.47983724C>T | CA384548561 | COL2A1 | c.1747G>A (p.Glu583Lys) c.1954G>A (p.Glu652Lys) n.132G>A n.878G>A c.2098G>A (p.Glu700Lys) c.2095G>A (p.Glu699Lys) c.1042G>A (p.Glu348Lys) c.1888G>A (p.Glu630Lys) c.1408G>A (p.Glu470Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47983725A>C | CA479465160 | COL2A1 | c.1746T>G (p.Gly582=) c.1953T>G (p.Gly651=) n.131T>G n.877T>G c.2097T>G (p.Gly699=) c.2094T>G (p.Gly698=) c.1041T>G (p.Gly347=) c.1887T>G (p.Gly629=) c.1407T>G (p.Gly469=) | |
| 12 | g.47983725A>G | CA479465163 | COL2A1 | c.1746T>C (p.Gly582=) c.1953T>C (p.Gly651=) n.131T>C n.877T>C c.2097T>C (p.Gly699=) c.2094T>C (p.Gly698=) c.1041T>C (p.Gly347=) c.1887T>C (p.Gly629=) c.1407T>C (p.Gly469=) | gnomAD v4 |
| 12 | g.47983725A>T | CA479465167 | COL2A1 | c.1746T>A (p.Gly582=) c.1953T>A (p.Gly651=) n.131T>A n.877T>A c.2097T>A (p.Gly699=) c.2094T>A (p.Gly698=) c.1041T>A (p.Gly347=) c.1887T>A (p.Gly629=) c.1407T>A (p.Gly469=) | |
| 12 | g.47983725dup | CA2034452245 | COL2A1 | c.1746dup (p.Glu583Ter) c.1953dup (p.Glu652Ter) n.131dup n.877dup c.2097dup (p.Glu700Ter) c.2094dup (p.Glu699Ter) c.1041dup (p.Glu348Ter) c.1887dup (p.Glu630Ter) c.1407dup (p.Glu470Ter) | dbSNP |
| 12 | g.47983725_47983726delinsCA | CA2695216294 | COL2A1 | c.1745_1746delinsTG (p.Gly582Val) c.1952_1953delinsTG (p.Gly651Val) n.130_131delinsTG n.876_877delinsTG c.2096_2097delinsTG (p.Gly699Val) c.2093_2094delinsTG (p.Gly698Val) c.1040_1041delinsTG (p.Gly347Val) c.1886_1887delinsTG (p.Gly629Val) c.1406_1407delinsTG (p.Gly469Val) | |
| 12 | g.47983726C>A | CA384548567 | COL2A1 | c.1745G>T (p.Gly582Val) c.1952G>T (p.Gly651Val) n.130G>T n.876G>T c.2096G>T (p.Gly699Val) c.2093G>T (p.Gly698Val) c.1040G>T (p.Gly347Val) c.1886G>T (p.Gly629Val) c.1406G>T (p.Gly469Val) | ClinVar dbSNP |
| 12 | g.47983726C= | CA2034452248 | COL2A1 | c.1745G= (p.Gly582=) c.1952G= (p.Gly651=) n.130G= n.876G= c.2096G= (p.Gly699=) c.2093G= (p.Gly698=) c.1040G= (p.Gly347=) c.1886G= (p.Gly629=) c.1406G= (p.Gly469=) | |
| 12 | g.47983726C>G | CA384548566 | COL2A1 | c.1745G>C (p.Gly582Ala) c.1952G>C (p.Gly651Ala) n.130G>C n.876G>C c.2096G>C (p.Gly699Ala) c.2093G>C (p.Gly698Ala) c.1040G>C (p.Gly347Ala) c.1886G>C (p.Gly629Ala) c.1406G>C (p.Gly469Ala) | |
| 12 | g.47983726C>T | CA384548564 | COL2A1 | c.1745G>A (p.Gly582Asp) c.1952G>A (p.Gly651Asp) n.130G>A n.876G>A c.2096G>A (p.Gly699Asp) c.2093G>A (p.Gly698Asp) c.1040G>A (p.Gly347Asp) c.1886G>A (p.Gly629Asp) c.1406G>A (p.Gly469Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47983727C>A | CA384548572 | COL2A1 | c.1744G>T (p.Gly582Cys) c.1951G>T (p.Gly651Cys) n.129G>T n.875G>T c.2095G>T (p.Gly699Cys) c.2092G>T (p.Gly698Cys) c.1039G>T (p.Gly347Cys) c.1885G>T (p.Gly629Cys) c.1405G>T (p.Gly469Cys) | gnomAD v4 |
| 12 | g.47983727C>G | CA384548571 | COL2A1 | c.1744G>C (p.Gly582Arg) c.1951G>C (p.Gly651Arg) n.129G>C n.875G>C c.2095G>C (p.Gly699Arg) c.2092G>C (p.Gly698Arg) c.1039G>C (p.Gly347Arg) c.1885G>C (p.Gly629Arg) c.1405G>C (p.Gly469Arg) | |
| 12 | g.47983727C>T | CA384548573 | COL2A1 | c.1744G>A (p.Gly582Ser) c.1951G>A (p.Gly651Ser) n.129G>A n.875G>A c.2095G>A (p.Gly699Ser) c.2092G>A (p.Gly698Ser) c.1039G>A (p.Gly347Ser) c.1885G>A (p.Gly629Ser) c.1405G>A (p.Gly469Ser) | gnomAD v4 |
| 12 | g.47983728A>C | CA479465181 | COL2A1 | c.1743T>G (p.Ala581=) c.1950T>G (p.Ala650=) n.128T>G n.874T>G c.2094T>G (p.Ala698=) c.2091T>G (p.Ala697=) c.1038T>G (p.Ala346=) c.1884T>G (p.Ala628=) c.1404T>G (p.Ala468=) | |
| 12 | g.47983728A>G | CA479465183 | COL2A1 | c.1743T>C (p.Ala581=) c.1950T>C (p.Ala650=) n.128T>C n.874T>C c.2094T>C (p.Ala698=) c.2091T>C (p.Ala697=) c.1038T>C (p.Ala346=) c.1884T>C (p.Ala628=) c.1404T>C (p.Ala468=) | |
| 12 | g.47983728A>T | CA479465186 | COL2A1 | c.1743T>A (p.Ala581=) c.1950T>A (p.Ala650=) n.128T>A n.874T>A c.2094T>A (p.Ala698=) c.2091T>A (p.Ala697=) c.1038T>A (p.Ala346=) c.1884T>A (p.Ala628=) c.1404T>A (p.Ala468=) | gnomAD v4 |
| 12 | g.47983729G>A | CA384548574 | COL2A1 | c.1742C>T (p.Ala581Val) c.1949C>T (p.Ala650Val) n.127C>T n.873C>T c.2093C>T (p.Ala698Val) c.2090C>T (p.Ala697Val) c.1037C>T (p.Ala346Val) c.1883C>T (p.Ala628Val) c.1403C>T (p.Ala468Val) | gnomAD v4 |
| 12 | g.47983729G>C | CA384548578 | COL2A1 | c.1742C>G (p.Ala581Gly) c.1949C>G (p.Ala650Gly) n.127C>G n.873C>G c.2093C>G (p.Ala698Gly) c.2090C>G (p.Ala697Gly) c.1037C>G (p.Ala346Gly) c.1883C>G (p.Ala628Gly) c.1403C>G (p.Ala468Gly) | gnomAD v4 |
| 12 | g.47983729G>T | CA384548575 | COL2A1 | c.1742C>A (p.Ala581Asp) c.1949C>A (p.Ala650Asp) n.127C>A n.873C>A c.2093C>A (p.Ala698Asp) c.2090C>A (p.Ala697Asp) c.1037C>A (p.Ala346Asp) c.1883C>A (p.Ala628Asp) c.1403C>A (p.Ala468Asp) | gnomAD v4 |
| 12 | g.47983730C>A | CA384548580 | COL2A1 | c.1741G>T (p.Ala581Ser) c.1948G>T (p.Ala650Ser) n.126G>T n.872G>T c.2092G>T (p.Ala698Ser) c.2089G>T (p.Ala697Ser) c.1036G>T (p.Ala346Ser) c.1882G>T (p.Ala628Ser) c.1402G>T (p.Ala468Ser) | gnomAD v4 |
| 12 | g.47983730C>G | CA384548583 | COL2A1 | c.1741G>C (p.Ala581Pro) c.1948G>C (p.Ala650Pro) n.126G>C n.872G>C c.2092G>C (p.Ala698Pro) c.2089G>C (p.Ala697Pro) c.1036G>C (p.Ala346Pro) c.1882G>C (p.Ala628Pro) c.1402G>C (p.Ala468Pro) | |
| 12 | g.47983730C>T | CA384548586 | COL2A1 | c.1741G>A (p.Ala581Thr) c.1948G>A (p.Ala650Thr) n.126G>A n.872G>A c.2092G>A (p.Ala698Thr) c.2089G>A (p.Ala697Thr) c.1036G>A (p.Ala346Thr) c.1882G>A (p.Ala628Thr) c.1402G>A (p.Ala468Thr) | gnomAD v4 |
| 12 | g.47983731A>C | CA479465204 | COL2A1 | c.1740T>G (p.Pro580=) c.1947T>G (p.Pro649=) n.125T>G n.871T>G c.2091T>G (p.Pro697=) c.2088T>G (p.Pro696=) c.1035T>G (p.Pro345=) c.1881T>G (p.Pro627=) c.1401T>G (p.Pro467=) | gnomAD v4 |
| 12 | g.47983731A>G | CA479465206 | COL2A1 | c.1740T>C (p.Pro580=) c.1947T>C (p.Pro649=) n.125T>C n.871T>C c.2091T>C (p.Pro697=) c.2088T>C (p.Pro696=) c.1035T>C (p.Pro345=) c.1881T>C (p.Pro627=) c.1401T>C (p.Pro467=) | gnomAD v4 |
| 12 | g.47983731A>T | CA479465209 | COL2A1 | c.1740T>A (p.Pro580=) c.1947T>A (p.Pro649=) n.125T>A n.871T>A c.2091T>A (p.Pro697=) c.2088T>A (p.Pro696=) c.1035T>A (p.Pro345=) c.1881T>A (p.Pro627=) c.1401T>A (p.Pro467=) | |
| 12 | g.47983732G>A | CA384548589 | COL2A1 | c.1739C>T (p.Pro580Leu) c.1946C>T (p.Pro649Leu) n.124C>T n.870C>T c.2090C>T (p.Pro697Leu) c.2087C>T (p.Pro696Leu) c.1034C>T (p.Pro345Leu) c.1880C>T (p.Pro627Leu) c.1400C>T (p.Pro467Leu) | gnomAD v4 |
| 12 | g.47983732G>C | CA384548592 | COL2A1 | c.1739C>G (p.Pro580Arg) c.1946C>G (p.Pro649Arg) n.124C>G n.870C>G c.2090C>G (p.Pro697Arg) c.2087C>G (p.Pro696Arg) c.1034C>G (p.Pro345Arg) c.1880C>G (p.Pro627Arg) c.1400C>G (p.Pro467Arg) | gnomAD v4 |
| 12 | g.47983732G>T | CA384548595 | COL2A1 | c.1739C>A (p.Pro580His) c.1946C>A (p.Pro649His) n.124C>A n.870C>A c.2090C>A (p.Pro697His) c.2087C>A (p.Pro696His) c.1034C>A (p.Pro345His) c.1880C>A (p.Pro627His) c.1400C>A (p.Pro467His) | gnomAD v4 |
| 12 | g.47983733G>A | CA384548605 | COL2A1 | c.1738C>T (p.Pro580Ser) c.1945C>T (p.Pro649Ser) n.123C>T n.869C>T c.2089C>T (p.Pro697Ser) c.2086C>T (p.Pro696Ser) c.1033C>T (p.Pro345Ser) c.1879C>T (p.Pro627Ser) c.1399C>T (p.Pro467Ser) | |
| 12 | g.47983733G>C | CA384548609 | COL2A1 | c.1738C>G (p.Pro580Ala) c.1945C>G (p.Pro649Ala) n.123C>G n.869C>G c.2089C>G (p.Pro697Ala) c.2086C>G (p.Pro696Ala) c.1033C>G (p.Pro345Ala) c.1879C>G (p.Pro627Ala) c.1399C>G (p.Pro467Ala) | |
| 12 | g.47983733G= | CA2034452254 | COL2A1 | c.1738C= (p.Pro580=) c.1945C= (p.Pro649=) n.123C= n.869C= c.2089C= (p.Pro697=) c.2086C= (p.Pro696=) c.1033C= (p.Pro345=) c.1879C= (p.Pro627=) c.1399C= (p.Pro467=) | |
| 12 | g.47983733G>T | CA6535304 | COL2A1 | c.1738C>A (p.Pro580Thr) c.1945C>A (p.Pro649Thr) n.123C>A n.869C>A c.2089C>A (p.Pro697Thr) c.2086C>A (p.Pro696Thr) c.1033C>A (p.Pro345Thr) c.1879C>A (p.Pro627Thr) c.1399C>A (p.Pro467Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47983734T>A | CA479465226 | COL2A1 | c.1737A>T (p.Gly579=) c.1944A>T (p.Gly648=) n.122A>T n.868A>T c.2088A>T (p.Gly696=) c.2085A>T (p.Gly695=) c.1032A>T (p.Gly344=) c.1878A>T (p.Gly626=) c.1398A>T (p.Gly466=) | ClinVar |
| 12 | g.47983734T>C | CA6535305 | COL2A1 | c.1737A>G (p.Gly579=) c.1944A>G (p.Gly648=) n.122A>G n.868A>G c.2088A>G (p.Gly696=) c.2085A>G (p.Gly695=) c.1032A>G (p.Gly344=) c.1878A>G (p.Gly626=) c.1398A>G (p.Gly466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47983734T>G | CA479465227 | COL2A1 | c.1737A>C (p.Gly579=) c.1944A>C (p.Gly648=) n.122A>C n.868A>C c.2088A>C (p.Gly696=) c.2085A>C (p.Gly695=) c.1032A>C (p.Gly344=) c.1878A>C (p.Gly626=) c.1398A>C (p.Gly466=) | |
| 12 | g.47983734T= | CA2034452260 | COL2A1 | c.1737A= (p.Gly579=) c.1944A= (p.Gly648=) n.122A= n.868A= c.2088A= (p.Gly696=) c.2085A= (p.Gly695=) c.1032A= (p.Gly344=) c.1878A= (p.Gly626=) c.1398A= (p.Gly466=) |