Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47973408T>ACA384533063COL2A1c.4256A>T (p.Ter1419Leu)
c.4463A>T (p.Ter1488Leu)
n.3549A>T
c.4607A>T (p.Ter1536Leu)
c.4604A>T (p.Ter1535Leu)
c.3551A>T (p.Ter1184Leu)
c.4397A>T (p.Ter1466Leu)
c.3917A>T (p.Ter1306Leu)
12g.47973408T>CCA479449196COL2A1c.4256A>G (p.Ter1419=)
c.4463A>G (p.Ter1488=)
n.3549A>G
c.4607A>G (p.Ter1536=)
c.4604A>G (p.Ter1535=)
c.3551A>G (p.Ter1184=)
c.4397A>G (p.Ter1466=)
c.3917A>G (p.Ter1306=)
 dbSNP gnomAD v4
12g.47973408T>GCA384533064COL2A1c.4256A>C (p.Ter1419Ser)
c.4463A>C (p.Ter1488Ser)
n.3549A>C
c.4607A>C (p.Ter1536Ser)
c.4604A>C (p.Ter1535Ser)
c.3551A>C (p.Ter1184Ser)
c.4397A>C (p.Ter1466Ser)
c.3917A>C (p.Ter1306Ser)
 ClinVar
12g.47973408T=CA2034470516COL2A1c.4256A= (p.Ter1419=)
c.4463A= (p.Ter1488=)
n.3549A=
c.4607A= (p.Ter1536=)
c.4604A= (p.Ter1535=)
c.3551A= (p.Ter1184=)
c.4397A= (p.Ter1466=)
c.3917A= (p.Ter1306=)
12g.47973409delCA2695216605COL2A1c.4255del (p.Ter1419=)
c.4462del (p.Ter1488LysextTer26)
n.3548del
c.4255del (p.Ter1419LysextTer26)
c.4606del (p.Ter1536LysextTer26)
c.4603del (p.Ter1535LysextTer26)
c.3550del (p.Ter1184LysextTer26)
c.4396del (p.Ter1466LysextTer26)
c.3916del (p.Ter1306LysextTer26)
12g.47973409A>CCA384533065COL2A1c.4255T>G (p.Ter1419Glu)
c.4462T>G (p.Ter1488Glu)
n.3548T>G
c.4606T>G (p.Ter1536Glu)
c.4603T>G (p.Ter1535Glu)
c.3550T>G (p.Ter1184Glu)
c.4396T>G (p.Ter1466Glu)
c.3916T>G (p.Ter1306Glu)
 ClinVar
12g.47973409A>GCA384533066COL2A1c.4255T>C (p.Ter1419Gln)
c.4462T>C (p.Ter1488Gln)
n.3548T>C
c.4606T>C (p.Ter1536Gln)
c.4603T>C (p.Ter1535Gln)
c.3550T>C (p.Ter1184Gln)
c.4396T>C (p.Ter1466Gln)
c.3916T>C (p.Ter1306Gln)
 ClinVar
12g.47973409A>TCA384533067COL2A1c.4255T>A (p.Ter1419Lys)
c.4462T>A (p.Ter1488Lys)
n.3548T>A
c.4606T>A (p.Ter1536Lys)
c.4603T>A (p.Ter1535Lys)
c.3550T>A (p.Ter1184Lys)
c.4396T>A (p.Ter1466Lys)
c.3916T>A (p.Ter1306Lys)
 ClinVar
12g.47973410C>ACA384533068COL2A1c.4254G>T (p.Leu1418Phe)
c.4461G>T (p.Leu1487Phe)
n.3547G>T
c.4605G>T (p.Leu1535Phe)
c.4602G>T (p.Leu1534Phe)
c.3549G>T (p.Leu1183Phe)
c.4395G>T (p.Leu1465Phe)
c.3915G>T (p.Leu1305Phe)
12g.47973410C=CA2034470520COL2A1c.4254G= (p.Leu1418=)
c.4461G= (p.Leu1487=)
n.3547G=
c.4605G= (p.Leu1535=)
c.4602G= (p.Leu1534=)
c.3549G= (p.Leu1183=)
c.4395G= (p.Leu1465=)
c.3915G= (p.Leu1305=)
12g.47973410C>GCA384533069COL2A1c.4254G>C (p.Leu1418Phe)
c.4461G>C (p.Leu1487Phe)
n.3547G>C
c.4605G>C (p.Leu1535Phe)
c.4602G>C (p.Leu1534Phe)
c.3549G>C (p.Leu1183Phe)
c.4395G>C (p.Leu1465Phe)
c.3915G>C (p.Leu1305Phe)
12g.47973410C>TCA479449197COL2A1c.4254G>A (p.Leu1418=)
c.4461G>A (p.Leu1487=)
n.3547G>A
c.4605G>A (p.Leu1535=)
c.4602G>A (p.Leu1534=)
c.3549G>A (p.Leu1183=)
c.4395G>A (p.Leu1465=)
c.3915G>A (p.Leu1305=)
12g.47973411A>CCA384533072COL2A1c.4253T>G (p.Leu1418Trp)
c.4460T>G (p.Leu1487Trp)
n.3546T>G
c.4604T>G (p.Leu1535Trp)
c.4601T>G (p.Leu1534Trp)
c.3548T>G (p.Leu1183Trp)
c.4394T>G (p.Leu1465Trp)
c.3914T>G (p.Leu1305Trp)
12g.47973411A>GCA384533071COL2A1c.4253T>C (p.Leu1418Ser)
c.4460T>C (p.Leu1487Ser)
n.3546T>C
c.4604T>C (p.Leu1535Ser)
c.4601T>C (p.Leu1534Ser)
c.3548T>C (p.Leu1183Ser)
c.4394T>C (p.Leu1465Ser)
c.3914T>C (p.Leu1305Ser)
12g.47973411A>TCA384533070COL2A1c.4253T>A (p.Leu1418Ter)
c.4460T>A (p.Leu1487Ter)
n.3546T>A
c.4604T>A (p.Leu1535Ter)
c.4601T>A (p.Leu1534Ter)
c.3548T>A (p.Leu1183Ter)
c.4394T>A (p.Leu1465Ter)
c.3914T>A (p.Leu1305Ter)
12g.47973414_47973416dupCA6534449COL2A1c.4251_4253dup (p.Phe1417_Leu1418insPhe)
c.4458_4460dup (p.Phe1486_Leu1487insPhe)
n.3544_3546dup
c.4602_4604dup (p.Phe1534_Leu1535insPhe)
c.4599_4601dup (p.Phe1533_Leu1534insPhe)
c.3546_3548dup (p.Phe1182_Leu1183insPhe)
c.4392_4394dup (p.Phe1464_Leu1465insPhe)
c.3912_3914dup (p.Phe1304_Leu1305insPhe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973414_47973416delCA1139655444COL2A1c.4251_4253del (p.Phe1417del)
c.4458_4460del (p.Phe1486del)
n.3544_3546del
c.4602_4604del (p.Phe1534del)
c.4599_4601del (p.Phe1533del)
c.3546_3548del (p.Phe1182del)
c.4392_4394del (p.Phe1464del)
c.3912_3914del (p.Phe1304del)
 ClinVar
12g.47973412A=CA2034470528COL2A1c.4252T= (p.Leu1418=)
c.4459T= (p.Leu1487=)
n.3545T=
c.4603T= (p.Leu1535=)
c.4600T= (p.Leu1534=)
c.3547T= (p.Leu1183=)
c.4393T= (p.Leu1465=)
c.3913T= (p.Leu1305=)
12g.47973412A>CCA384533073COL2A1c.4252T>G (p.Leu1418Val)
c.4459T>G (p.Leu1487Val)
n.3545T>G
c.4603T>G (p.Leu1535Val)
c.4600T>G (p.Leu1534Val)
c.3547T>G (p.Leu1183Val)
c.4393T>G (p.Leu1465Val)
c.3913T>G (p.Leu1305Val)
12g.47973412A>GCA479449198COL2A1c.4252T>C (p.Leu1418=)
c.4459T>C (p.Leu1487=)
n.3545T>C
c.4603T>C (p.Leu1535=)
c.4600T>C (p.Leu1534=)
c.3547T>C (p.Leu1183=)
c.4393T>C (p.Leu1465=)
c.3913T>C (p.Leu1305=)
 dbSNP gnomAD v3 gnomAD v4
12g.47973412A>TCA384533074COL2A1c.4252T>A (p.Leu1418Met)
c.4459T>A (p.Leu1487Met)
n.3545T>A
c.4603T>A (p.Leu1535Met)
c.4600T>A (p.Leu1534Met)
c.3547T>A (p.Leu1183Met)
c.4393T>A (p.Leu1465Met)
c.3913T>A (p.Leu1305Met)
 ClinVar gnomAD v4
12g.47973413G>ACA479449199COL2A1c.4251C>T (p.Phe1417=)
c.4458C>T (p.Phe1486=)
n.3544C>T
c.4602C>T (p.Phe1534=)
c.4599C>T (p.Phe1533=)
c.3546C>T (p.Phe1182=)
c.4392C>T (p.Phe1464=)
c.3912C>T (p.Phe1304=)
12g.47973413G>CCA384533075COL2A1c.4251C>G (p.Phe1417Leu)
c.4458C>G (p.Phe1486Leu)
n.3544C>G
c.4602C>G (p.Phe1534Leu)
c.4599C>G (p.Phe1533Leu)
c.3546C>G (p.Phe1182Leu)
c.4392C>G (p.Phe1464Leu)
c.3912C>G (p.Phe1304Leu)
12g.47973413G>TCA384533076COL2A1c.4251C>A (p.Phe1417Leu)
c.4458C>A (p.Phe1486Leu)
n.3544C>A
c.4602C>A (p.Phe1534Leu)
c.4599C>A (p.Phe1533Leu)
c.3546C>A (p.Phe1182Leu)
c.4392C>A (p.Phe1464Leu)
c.3912C>A (p.Phe1304Leu)
 COSMIC COSMIC
12g.47973414A>CCA384533077COL2A1c.4250T>G (p.Phe1417Cys)
c.4457T>G (p.Phe1486Cys)
n.3543T>G
c.4601T>G (p.Phe1534Cys)
c.4598T>G (p.Phe1533Cys)
c.3545T>G (p.Phe1182Cys)
c.4391T>G (p.Phe1464Cys)
c.3911T>G (p.Phe1304Cys)
12g.47973414A>GCA384533078COL2A1c.4250T>C (p.Phe1417Ser)
c.4457T>C (p.Phe1486Ser)
n.3543T>C
c.4601T>C (p.Phe1534Ser)
c.4598T>C (p.Phe1533Ser)
c.3545T>C (p.Phe1182Ser)
c.4391T>C (p.Phe1464Ser)
c.3911T>C (p.Phe1304Ser)
12g.47973414A>TCA384533079COL2A1c.4250T>A (p.Phe1417Tyr)
c.4457T>A (p.Phe1486Tyr)
n.3543T>A
c.4601T>A (p.Phe1534Tyr)
c.4598T>A (p.Phe1533Tyr)
c.3545T>A (p.Phe1182Tyr)
c.4391T>A (p.Phe1464Tyr)
c.3911T>A (p.Phe1304Tyr)
12g.47973415A>CCA384533080COL2A1c.4249T>G (p.Phe1417Val)
c.4456T>G (p.Phe1486Val)
n.3542T>G
c.4600T>G (p.Phe1534Val)
c.4597T>G (p.Phe1533Val)
c.3544T>G (p.Phe1182Val)
c.4390T>G (p.Phe1464Val)
c.3910T>G (p.Phe1304Val)
 gnomAD v4
12g.47973415A>GCA384533081COL2A1c.4249T>C (p.Phe1417Leu)
c.4456T>C (p.Phe1486Leu)
n.3542T>C
c.4600T>C (p.Phe1534Leu)
c.4597T>C (p.Phe1533Leu)
c.3544T>C (p.Phe1182Leu)
c.4390T>C (p.Phe1464Leu)
c.3910T>C (p.Phe1304Leu)
12g.47973415A>TCA384533082COL2A1c.4249T>A (p.Phe1417Ile)
c.4456T>A (p.Phe1486Ile)
n.3542T>A
c.4600T>A (p.Phe1534Ile)
c.4597T>A (p.Phe1533Ile)
c.3544T>A (p.Phe1182Ile)
c.4390T>A (p.Phe1464Ile)
c.3910T>A (p.Phe1304Ile)
12g.47973416G>ACA479449200COL2A1c.4248C>T (p.Cys1416=)
c.4455C>T (p.Cys1485=)
n.3541C>T
c.4599C>T (p.Cys1533=)
c.4596C>T (p.Cys1532=)
c.3543C>T (p.Cys1181=)
c.4389C>T (p.Cys1463=)
c.3909C>T (p.Cys1303=)
12g.47973416G>CCA384533083COL2A1c.4248C>G (p.Cys1416Trp)
c.4455C>G (p.Cys1485Trp)
n.3541C>G
c.4599C>G (p.Cys1533Trp)
c.4596C>G (p.Cys1532Trp)
c.3543C>G (p.Cys1181Trp)
c.4389C>G (p.Cys1463Trp)
c.3909C>G (p.Cys1303Trp)
12g.47973416G>TCA384533084COL2A1c.4248C>A (p.Cys1416Ter)
c.4455C>A (p.Cys1485Ter)
n.3541C>A
c.4599C>A (p.Cys1533Ter)
c.4596C>A (p.Cys1532Ter)
c.3543C>A (p.Cys1181Ter)
c.4389C>A (p.Cys1463Ter)
c.3909C>A (p.Cys1303Ter)
12g.47973417C>ACA384533085COL2A1c.4247G>T (p.Cys1416Phe)
c.4454G>T (p.Cys1485Phe)
n.3540G>T
c.4598G>T (p.Cys1533Phe)
c.4595G>T (p.Cys1532Phe)
c.3542G>T (p.Cys1181Phe)
c.4388G>T (p.Cys1463Phe)
c.3908G>T (p.Cys1303Phe)
12g.47973417C>GCA384533086COL2A1c.4247G>C (p.Cys1416Ser)
c.4454G>C (p.Cys1485Ser)
n.3540G>C
c.4598G>C (p.Cys1533Ser)
c.4595G>C (p.Cys1532Ser)
c.3542G>C (p.Cys1181Ser)
c.4388G>C (p.Cys1463Ser)
c.3908G>C (p.Cys1303Ser)
12g.47973417C>TCA384533087COL2A1c.4247G>A (p.Cys1416Tyr)
c.4454G>A (p.Cys1485Tyr)
n.3540G>A
c.4598G>A (p.Cys1533Tyr)
c.4595G>A (p.Cys1532Tyr)
c.3542G>A (p.Cys1181Tyr)
c.4388G>A (p.Cys1463Tyr)
c.3908G>A (p.Cys1303Tyr)
12g.47973418A=CA2034470532COL2A1c.4246T= (p.Cys1416=)
c.4453T= (p.Cys1485=)
n.3539T=
c.4597T= (p.Cys1533=)
c.4594T= (p.Cys1532=)
c.3541T= (p.Cys1181=)
c.4387T= (p.Cys1463=)
c.3907T= (p.Cys1303=)
12g.47973418A>CCA384533088COL2A1c.4246T>G (p.Cys1416Gly)
c.4453T>G (p.Cys1485Gly)
n.3539T>G
c.4597T>G (p.Cys1533Gly)
c.4594T>G (p.Cys1532Gly)
c.3541T>G (p.Cys1181Gly)
c.4387T>G (p.Cys1463Gly)
c.3907T>G (p.Cys1303Gly)
12g.47973418A>GCA384533089COL2A1c.4246T>C (p.Cys1416Arg)
c.4453T>C (p.Cys1485Arg)
n.3539T>C
c.4597T>C (p.Cys1533Arg)
c.4594T>C (p.Cys1532Arg)
c.3541T>C (p.Cys1181Arg)
c.4387T>C (p.Cys1463Arg)
c.3907T>C (p.Cys1303Arg)
 ClinVar dbSNP
12g.47973418A>TCA384533090COL2A1c.4246T>A (p.Cys1416Ser)
c.4453T>A (p.Cys1485Ser)
n.3539T>A
c.4597T>A (p.Cys1533Ser)
c.4594T>A (p.Cys1532Ser)
c.3541T>A (p.Cys1181Ser)
c.4387T>A (p.Cys1463Ser)
c.3907T>A (p.Cys1303Ser)
12g.47973419G>ACA479449201COL2A1c.4245C>T (p.Val1415=)
c.4452C>T (p.Val1484=)
n.3538C>T
c.4596C>T (p.Val1532=)
c.4593C>T (p.Val1531=)
c.3540C>T (p.Val1180=)
c.4386C>T (p.Val1462=)
c.3906C>T (p.Val1302=)
12g.47973419G>CCA479449202COL2A1c.4245C>G (p.Val1415=)
c.4452C>G (p.Val1484=)
n.3538C>G
c.4596C>G (p.Val1532=)
c.4593C>G (p.Val1531=)
c.3540C>G (p.Val1180=)
c.4386C>G (p.Val1462=)
c.3906C>G (p.Val1302=)
12g.47973419G>TCA479449203COL2A1c.4245C>A (p.Val1415=)
c.4452C>A (p.Val1484=)
n.3538C>A
c.4596C>A (p.Val1532=)
c.4593C>A (p.Val1531=)
c.3540C>A (p.Val1180=)
c.4386C>A (p.Val1462=)
c.3906C>A (p.Val1302=)
12g.47973420_47973431delCA1139655443COL2A1c.4234_4245del (p.Ile1412_Val1415del)
c.4441_4452del (p.Ile1481_Val1484del)
n.3527_3538del
c.4585_4596del (p.Ile1529_Val1532del)
c.4582_4593del (p.Ile1528_Val1531del)
c.3529_3540del (p.Ile1177_Val1180del)
c.4375_4386del (p.Ile1459_Val1462del)
c.3895_3906del (p.Ile1299_Val1302del)
12g.47973420A>CCA384533093COL2A1c.4244T>G (p.Val1415Gly)
c.4451T>G (p.Val1484Gly)
n.3537T>G
c.4595T>G (p.Val1532Gly)
c.4592T>G (p.Val1531Gly)
c.3539T>G (p.Val1180Gly)
c.4385T>G (p.Val1462Gly)
c.3905T>G (p.Val1302Gly)
12g.47973420A>GCA384533091COL2A1c.4244T>C (p.Val1415Ala)
c.4451T>C (p.Val1484Ala)
n.3537T>C
c.4595T>C (p.Val1532Ala)
c.4592T>C (p.Val1531Ala)
c.3539T>C (p.Val1180Ala)
c.4385T>C (p.Val1462Ala)
c.3905T>C (p.Val1302Ala)
12g.47973420A>TCA384533092COL2A1c.4244T>A (p.Val1415Asp)
c.4451T>A (p.Val1484Asp)
n.3537T>A
c.4595T>A (p.Val1532Asp)
c.4592T>A (p.Val1531Asp)
c.3539T>A (p.Val1180Asp)
c.4385T>A (p.Val1462Asp)
c.3905T>A (p.Val1302Asp)
12g.47973420_47973424delinsACCGGCA2034470535COL2A1c.4240_4244delinsCCGGT (p.Pro1414=)
c.4447_4451delinsCCGGT (p.Pro1483=)
n.3533_3537delinsCCGGT
c.4591_4595delinsCCGGT (p.Pro1531=)
c.4588_4592delinsCCGGT (p.Pro1530=)
c.3535_3539delinsCCGGT (p.Pro1179=)
c.4381_4385delinsCCGGT (p.Pro1461=)
c.3901_3905delinsCCGGT (p.Pro1301=)
12g.47973421C>ACA384533094COL2A1c.4243G>T (p.Val1415Phe)
c.4450G>T (p.Val1484Phe)
n.3536G>T
c.4594G>T (p.Val1532Phe)
c.4591G>T (p.Val1531Phe)
c.3538G>T (p.Val1180Phe)
c.4384G>T (p.Val1462Phe)
c.3904G>T (p.Val1302Phe)
12g.47973421C>GCA384533095COL2A1c.4243G>C (p.Val1415Leu)
c.4450G>C (p.Val1484Leu)
n.3536G>C
c.4594G>C (p.Val1532Leu)
c.4591G>C (p.Val1531Leu)
c.3538G>C (p.Val1180Leu)
c.4384G>C (p.Val1462Leu)
c.3904G>C (p.Val1302Leu)
12g.47973421C>TCA384533096COL2A1c.4243G>A (p.Val1415Ile)
c.4450G>A (p.Val1484Ile)
n.3536G>A
c.4594G>A (p.Val1532Ile)
c.4591G>A (p.Val1531Ile)
c.3538G>A (p.Val1180Ile)
c.4384G>A (p.Val1462Ile)
c.3904G>A (p.Val1302Ile)
12g.47973423_47973426delCA203168COL2A1c.4240_4243del (p.Pro1414SerfsTer?)
c.4447_4450del (p.Pro1483SerfsTer30)
n.3533_3536del
c.4240_4243del (p.Pro1414SerfsTer30)
c.4591_4594del (p.Pro1531SerfsTer30)
c.4588_4591del (p.Pro1530SerfsTer30)
c.3535_3538del (p.Pro1179SerfsTer30)
c.4381_4384del (p.Pro1461SerfsTer30)
c.3901_3904del (p.Pro1301SerfsTer30)
 ClinVar dbSNP
12g.47973422C>ACA479449205COL2A1c.4242G>T (p.Pro1414=)
c.4449G>T (p.Pro1483=)
n.3535G>T
c.4593G>T (p.Pro1531=)
c.4590G>T (p.Pro1530=)
c.3537G>T (p.Pro1179=)
c.4383G>T (p.Pro1461=)
c.3903G>T (p.Pro1301=)
 gnomAD v4
12g.47973422C=CA2034470546COL2A1c.4242G= (p.Pro1414=)
c.4449G= (p.Pro1483=)
n.3535G=
c.4593G= (p.Pro1531=)
c.4590G= (p.Pro1530=)
c.3537G= (p.Pro1179=)
c.4383G= (p.Pro1461=)
c.3903G= (p.Pro1301=)
12g.47973422C>GCA479449204COL2A1c.4242G>C (p.Pro1414=)
c.4449G>C (p.Pro1483=)
n.3535G>C
c.4593G>C (p.Pro1531=)
c.4590G>C (p.Pro1530=)
c.3537G>C (p.Pro1179=)
c.4383G>C (p.Pro1461=)
c.3903G>C (p.Pro1301=)
 gnomAD v4
12g.47973422C>TCA6534450COL2A1c.4242G>A (p.Pro1414=)
c.4449G>A (p.Pro1483=)
n.3535G>A
c.4593G>A (p.Pro1531=)
c.4590G>A (p.Pro1530=)
c.3537G>A (p.Pro1179=)
c.4383G>A (p.Pro1461=)
c.3903G>A (p.Pro1301=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973423G>ACA6534451COL2A1c.4241C>T (p.Pro1414Leu)
c.4448C>T (p.Pro1483Leu)
n.3534C>T
c.4592C>T (p.Pro1531Leu)
c.4589C>T (p.Pro1530Leu)
c.3536C>T (p.Pro1179Leu)
c.4382C>T (p.Pro1461Leu)
c.3902C>T (p.Pro1301Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973423G>CCA384533097COL2A1c.4241C>G (p.Pro1414Arg)
c.4448C>G (p.Pro1483Arg)
n.3534C>G
c.4592C>G (p.Pro1531Arg)
c.4589C>G (p.Pro1530Arg)
c.3536C>G (p.Pro1179Arg)
c.4382C>G (p.Pro1461Arg)
c.3902C>G (p.Pro1301Arg)
 dbSNP
12g.47973423G=CA2034470556COL2A1c.4241C= (p.Pro1414=)
c.4448C= (p.Pro1483=)
n.3534C=
c.4592C= (p.Pro1531=)
c.4589C= (p.Pro1530=)
c.3536C= (p.Pro1179=)
c.4382C= (p.Pro1461=)
c.3902C= (p.Pro1301=)
12g.47973423G>TCA384533098COL2A1c.4241C>A (p.Pro1414Gln)
c.4448C>A (p.Pro1483Gln)
n.3534C>A
c.4592C>A (p.Pro1531Gln)
c.4589C>A (p.Pro1530Gln)
c.3536C>A (p.Pro1179Gln)
c.4382C>A (p.Pro1461Gln)
c.3902C>A (p.Pro1301Gln)
 gnomAD v4
12g.47973424G>ACA384533099COL2A1c.4240C>T (p.Pro1414Ser)
c.4447C>T (p.Pro1483Ser)
n.3533C>T
c.4591C>T (p.Pro1531Ser)
c.4588C>T (p.Pro1530Ser)
c.3535C>T (p.Pro1179Ser)
c.4381C>T (p.Pro1461Ser)
c.3901C>T (p.Pro1301Ser)
12g.47973424G>CCA384533100COL2A1c.4240C>G (p.Pro1414Ala)
c.4447C>G (p.Pro1483Ala)
n.3533C>G
c.4591C>G (p.Pro1531Ala)
c.4588C>G (p.Pro1530Ala)
c.3535C>G (p.Pro1179Ala)
c.4381C>G (p.Pro1461Ala)
c.3901C>G (p.Pro1301Ala)
 dbSNP gnomAD v2
12g.47973424G=CA2034470562COL2A1c.4240C= (p.Pro1414=)
c.4447C= (p.Pro1483=)
n.3533C=
c.4591C= (p.Pro1531=)
c.4588C= (p.Pro1530=)
c.3535C= (p.Pro1179=)
c.4381C= (p.Pro1461=)
c.3901C= (p.Pro1301=)
12g.47973424G>TCA384533101COL2A1c.4240C>A (p.Pro1414Thr)
c.4447C>A (p.Pro1483Thr)
n.3533C>A
c.4591C>A (p.Pro1531Thr)
c.4588C>A (p.Pro1530Thr)
c.3535C>A (p.Pro1179Thr)
c.4381C>A (p.Pro1461Thr)
c.3901C>A (p.Pro1301Thr)
12g.47973425C>ACA479449206COL2A1c.4239G>T (p.Gly1413=)
c.4446G>T (p.Gly1482=)
n.3532G>T
c.4590G>T (p.Gly1530=)
c.4587G>T (p.Gly1529=)
c.3534G>T (p.Gly1178=)
c.4380G>T (p.Gly1460=)
c.3900G>T (p.Gly1300=)
12g.47973425C>GCA479449207COL2A1c.4239G>C (p.Gly1413=)
c.4446G>C (p.Gly1482=)
n.3532G>C
c.4590G>C (p.Gly1530=)
c.4587G>C (p.Gly1529=)
c.3534G>C (p.Gly1178=)
c.4380G>C (p.Gly1460=)
c.3900G>C (p.Gly1300=)
12g.47973425C>TCA479449208COL2A1c.4239G>A (p.Gly1413=)
c.4446G>A (p.Gly1482=)
n.3532G>A
c.4590G>A (p.Gly1530=)
c.4587G>A (p.Gly1529=)
c.3534G>A (p.Gly1178=)
c.4380G>A (p.Gly1460=)
c.3900G>A (p.Gly1300=)
12g.47973426C>ACA384533102COL2A1c.4238G>T (p.Gly1413Val)
c.4445G>T (p.Gly1482Val)
n.3531G>T
c.4589G>T (p.Gly1530Val)
c.4586G>T (p.Gly1529Val)
c.3533G>T (p.Gly1178Val)
c.4379G>T (p.Gly1460Val)
c.3899G>T (p.Gly1300Val)
12g.47973426C=CA2034470567COL2A1c.4238G= (p.Gly1413=)
c.4445G= (p.Gly1482=)
n.3531G=
c.4589G= (p.Gly1530=)
c.4586G= (p.Gly1529=)
c.3533G= (p.Gly1178=)
c.4379G= (p.Gly1460=)
c.3899G= (p.Gly1300=)
12g.47973426C>GCA384533103COL2A1c.4238G>C (p.Gly1413Ala)
c.4445G>C (p.Gly1482Ala)
n.3531G>C
c.4589G>C (p.Gly1530Ala)
c.4586G>C (p.Gly1529Ala)
c.3533G>C (p.Gly1178Ala)
c.4379G>C (p.Gly1460Ala)
c.3899G>C (p.Gly1300Ala)
12g.47973426C>TCA384533104COL2A1c.4238G>A (p.Gly1413Glu)
c.4445G>A (p.Gly1482Glu)
n.3531G>A
c.4589G>A (p.Gly1530Glu)
c.4586G>A (p.Gly1529Glu)
c.3533G>A (p.Gly1178Glu)
c.4379G>A (p.Gly1460Glu)
c.3899G>A (p.Gly1300Glu)
 dbSNP gnomAD v4
12g.47973427C>ACA384533105COL2A1c.4237G>T (p.Gly1413Trp)
c.4444G>T (p.Gly1482Trp)
n.3530G>T
c.4588G>T (p.Gly1530Trp)
c.4585G>T (p.Gly1529Trp)
c.3532G>T (p.Gly1178Trp)
c.4378G>T (p.Gly1460Trp)
c.3898G>T (p.Gly1300Trp)
12g.47973427C>GCA384533106COL2A1c.4237G>C (p.Gly1413Arg)
c.4444G>C (p.Gly1482Arg)
n.3530G>C
c.4588G>C (p.Gly1530Arg)
c.4585G>C (p.Gly1529Arg)
c.3532G>C (p.Gly1178Arg)
c.4378G>C (p.Gly1460Arg)
c.3898G>C (p.Gly1300Arg)
12g.47973427C>TCA384533107COL2A1c.4237G>A (p.Gly1413Arg)
c.4444G>A (p.Gly1482Arg)
n.3530G>A
c.4588G>A (p.Gly1530Arg)
c.4585G>A (p.Gly1529Arg)
c.3532G>A (p.Gly1178Arg)
c.4378G>A (p.Gly1460Arg)
c.3898G>A (p.Gly1300Arg)
 ClinVar dbSNP
12g.47973428T>ACA479449209COL2A1c.4236A>T (p.Ile1412=)
c.4443A>T (p.Ile1481=)
n.3529A>T
c.4587A>T (p.Ile1529=)
c.4584A>T (p.Ile1528=)
c.3531A>T (p.Ile1177=)
c.4377A>T (p.Ile1459=)
c.3897A>T (p.Ile1299=)
12g.47973428T>CCA384533108COL2A1c.4236A>G (p.Ile1412Met)
c.4443A>G (p.Ile1481Met)
n.3529A>G
c.4587A>G (p.Ile1529Met)
c.4584A>G (p.Ile1528Met)
c.3531A>G (p.Ile1177Met)
c.4377A>G (p.Ile1459Met)
c.3897A>G (p.Ile1299Met)
12g.47973428T>GCA479449210COL2A1c.4236A>C (p.Ile1412=)
c.4443A>C (p.Ile1481=)
n.3529A>C
c.4587A>C (p.Ile1529=)
c.4584A>C (p.Ile1528=)
c.3531A>C (p.Ile1177=)
c.4377A>C (p.Ile1459=)
c.3897A>C (p.Ile1299=)
12g.47973428dupCA2697559206COL2A1c.4236dup (p.Gly1413ArgfsTer?)
c.4443dup (p.Gly1482ArgfsTer10)
n.3529dup
c.4236dup (p.Gly1413ArgfsTer10)
c.4587dup (p.Gly1530ArgfsTer10)
c.4584dup (p.Gly1529ArgfsTer10)
c.3531dup (p.Gly1178ArgfsTer10)
c.4377dup (p.Gly1460ArgfsTer10)
c.3897dup (p.Gly1300ArgfsTer10)
 ClinVar
12g.47973429A=CA2034470570COL2A1c.4235T= (p.Ile1412=)
c.4442T= (p.Ile1481=)
n.3528T=
c.4586T= (p.Ile1529=)
c.4583T= (p.Ile1528=)
c.3530T= (p.Ile1177=)
c.4376T= (p.Ile1459=)
c.3896T= (p.Ile1299=)
12g.47973429A>CCA384533109COL2A1c.4235T>G (p.Ile1412Arg)
c.4442T>G (p.Ile1481Arg)
n.3528T>G
c.4586T>G (p.Ile1529Arg)
c.4583T>G (p.Ile1528Arg)
c.3530T>G (p.Ile1177Arg)
c.4376T>G (p.Ile1459Arg)
c.3896T>G (p.Ile1299Arg)
12g.47973429A>GCA384533110COL2A1c.4235T>C (p.Ile1412Thr)
c.4442T>C (p.Ile1481Thr)
n.3528T>C
c.4586T>C (p.Ile1529Thr)
c.4583T>C (p.Ile1528Thr)
c.3530T>C (p.Ile1177Thr)
c.4376T>C (p.Ile1459Thr)
c.3896T>C (p.Ile1299Thr)
 dbSNP gnomAD v4
12g.47973429A>TCA384533111COL2A1c.4235T>A (p.Ile1412Lys)
c.4442T>A (p.Ile1481Lys)
n.3528T>A
c.4586T>A (p.Ile1529Lys)
c.4583T>A (p.Ile1528Lys)
c.3530T>A (p.Ile1177Lys)
c.4376T>A (p.Ile1459Lys)
c.3896T>A (p.Ile1299Lys)
12g.47973430T>ACA384533112COL2A1c.4234A>T (p.Ile1412Leu)
c.4441A>T (p.Ile1481Leu)
n.3527A>T
c.4585A>T (p.Ile1529Leu)
c.4582A>T (p.Ile1528Leu)
c.3529A>T (p.Ile1177Leu)
c.4375A>T (p.Ile1459Leu)
c.3895A>T (p.Ile1299Leu)
12g.47973430T>CCA384533114COL2A1c.4234A>G (p.Ile1412Val)
c.4441A>G (p.Ile1481Val)
n.3527A>G
c.4585A>G (p.Ile1529Val)
c.4582A>G (p.Ile1528Val)
c.3529A>G (p.Ile1177Val)
c.4375A>G (p.Ile1459Val)
c.3895A>G (p.Ile1299Val)
 gnomAD v4
12g.47973430T>GCA384533113COL2A1c.4234A>C (p.Ile1412Leu)
c.4441A>C (p.Ile1481Leu)
n.3527A>C
c.4585A>C (p.Ile1529Leu)
c.4582A>C (p.Ile1528Leu)
c.3529A>C (p.Ile1177Leu)
c.4375A>C (p.Ile1459Leu)
c.3895A>C (p.Ile1299Leu)
12g.47973431G>ACA479449211COL2A1c.4233C>T (p.Asp1411=)
c.4440C>T (p.Asp1480=)
n.3526C>T
c.4584C>T (p.Asp1528=)
c.4581C>T (p.Asp1527=)
c.3528C>T (p.Asp1176=)
c.4374C>T (p.Asp1458=)
c.3894C>T (p.Asp1298=)
12g.47973431G>CCA384533115COL2A1c.4233C>G (p.Asp1411Glu)
c.4440C>G (p.Asp1480Glu)
n.3526C>G
c.4584C>G (p.Asp1528Glu)
c.4581C>G (p.Asp1527Glu)
c.3528C>G (p.Asp1176Glu)
c.4374C>G (p.Asp1458Glu)
c.3894C>G (p.Asp1298Glu)
12g.47973431G=CA2034470572COL2A1c.4233C= (p.Asp1411=)
c.4440C= (p.Asp1480=)
n.3526C=
c.4584C= (p.Asp1528=)
c.4581C= (p.Asp1527=)
c.3528C= (p.Asp1176=)
c.4374C= (p.Asp1458=)
c.3894C= (p.Asp1298=)
12g.47973431G>TCA384533116COL2A1c.4233C>A (p.Asp1411Glu)
c.4440C>A (p.Asp1480Glu)
n.3526C>A
c.4584C>A (p.Asp1528Glu)
c.4581C>A (p.Asp1527Glu)
c.3528C>A (p.Asp1176Glu)
c.4374C>A (p.Asp1458Glu)
c.3894C>A (p.Asp1298Glu)
 dbSNP
12g.47973432T>ACA384533117COL2A1c.4232A>T (p.Asp1411Val)
c.4439A>T (p.Asp1480Val)
n.3525A>T
c.4583A>T (p.Asp1528Val)
c.4580A>T (p.Asp1527Val)
c.3527A>T (p.Asp1176Val)
c.4373A>T (p.Asp1458Val)
c.3893A>T (p.Asp1298Val)
12g.47973432T>CCA384533118COL2A1c.4232A>G (p.Asp1411Gly)
c.4439A>G (p.Asp1480Gly)
n.3525A>G
c.4583A>G (p.Asp1528Gly)
c.4580A>G (p.Asp1527Gly)
c.3527A>G (p.Asp1176Gly)
c.4373A>G (p.Asp1458Gly)
c.3893A>G (p.Asp1298Gly)
12g.47973432T>GCA384533119COL2A1c.4232A>C (p.Asp1411Ala)
c.4439A>C (p.Asp1480Ala)
n.3525A>C
c.4583A>C (p.Asp1528Ala)
c.4580A>C (p.Asp1527Ala)
c.3527A>C (p.Asp1176Ala)
c.4373A>C (p.Asp1458Ala)
c.3893A>C (p.Asp1298Ala)
12g.47973433C>ACA384533120COL2A1c.4231G>T (p.Asp1411Tyr)
c.4438G>T (p.Asp1480Tyr)
n.3524G>T
c.4582G>T (p.Asp1528Tyr)
c.4579G>T (p.Asp1527Tyr)
c.3526G>T (p.Asp1176Tyr)
c.4372G>T (p.Asp1458Tyr)
c.3892G>T (p.Asp1298Tyr)
12g.47973433C=CA2034470577COL2A1c.4231G= (p.Asp1411=)
c.4438G= (p.Asp1480=)
n.3524G=
c.4582G= (p.Asp1528=)
c.4579G= (p.Asp1527=)
c.3526G= (p.Asp1176=)
c.4372G= (p.Asp1458=)
c.3892G= (p.Asp1298=)
12g.47973433C>GCA384533121COL2A1c.4231G>C (p.Asp1411His)
c.4438G>C (p.Asp1480His)
n.3524G>C
c.4582G>C (p.Asp1528His)
c.4579G>C (p.Asp1527His)
c.3526G>C (p.Asp1176His)
c.4372G>C (p.Asp1458His)
c.3892G>C (p.Asp1298His)
12g.47973433C>TCA6534452COL2A1c.4231G>A (p.Asp1411Asn)
c.4438G>A (p.Asp1480Asn)
n.3524G>A
c.4582G>A (p.Asp1528Asn)
c.4579G>A (p.Asp1527Asn)
c.3526G>A (p.Asp1176Asn)
c.4372G>A (p.Asp1458Asn)
c.3892G>A (p.Asp1298Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973434C>ACA479449212COL2A1c.4230G>T (p.Val1410=)
c.4437G>T (p.Val1479=)
n.3523G>T
c.4581G>T (p.Val1527=)
c.4578G>T (p.Val1526=)
c.3525G>T (p.Val1175=)
c.4371G>T (p.Val1457=)
c.3891G>T (p.Val1297=)
12g.47973434C>GCA479449213COL2A1c.4230G>C (p.Val1410=)
c.4437G>C (p.Val1479=)
n.3523G>C
c.4581G>C (p.Val1527=)
c.4578G>C (p.Val1526=)
c.3525G>C (p.Val1175=)
c.4371G>C (p.Val1457=)
c.3891G>C (p.Val1297=)
12g.47973434C>TCA479449214COL2A1c.4230G>A (p.Val1410=)
c.4437G>A (p.Val1479=)
n.3523G>A
c.4581G>A (p.Val1527=)
c.4578G>A (p.Val1526=)
c.3525G>A (p.Val1175=)
c.4371G>A (p.Val1457=)
c.3891G>A (p.Val1297=)
12g.47973435A=CA2034470582COL2A1c.4229T= (p.Val1410=)
c.4436T= (p.Val1479=)
n.3522T=
c.4580T= (p.Val1527=)
c.4577T= (p.Val1526=)
c.3524T= (p.Val1175=)
c.4370T= (p.Val1457=)
c.3890T= (p.Val1297=)
12g.47973435A>CCA384533122COL2A1c.4229T>G (p.Val1410Gly)
c.4436T>G (p.Val1479Gly)
n.3522T>G
c.4580T>G (p.Val1527Gly)
c.4577T>G (p.Val1526Gly)
c.3524T>G (p.Val1175Gly)
c.4370T>G (p.Val1457Gly)
c.3890T>G (p.Val1297Gly)
12g.47973435A>GCA384533123COL2A1c.4229T>C (p.Val1410Ala)
c.4436T>C (p.Val1479Ala)
n.3522T>C
c.4580T>C (p.Val1527Ala)
c.4577T>C (p.Val1526Ala)
c.3524T>C (p.Val1175Ala)
c.4370T>C (p.Val1457Ala)
c.3890T>C (p.Val1297Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47973435A>TCA384533124COL2A1c.4229T>A (p.Val1410Glu)
c.4436T>A (p.Val1479Glu)
n.3522T>A
c.4580T>A (p.Val1527Glu)
c.4577T>A (p.Val1526Glu)
c.3524T>A (p.Val1175Glu)
c.4370T>A (p.Val1457Glu)
c.3890T>A (p.Val1297Glu)
12g.47973436C>ACA384533127COL2A1c.4228G>T (p.Val1410Leu)
c.4435G>T (p.Val1479Leu)
n.3521G>T
c.4579G>T (p.Val1527Leu)
c.4576G>T (p.Val1526Leu)
c.3523G>T (p.Val1175Leu)
c.4369G>T (p.Val1457Leu)
c.3889G>T (p.Val1297Leu)
12g.47973436C>GCA384533126COL2A1c.4228G>C (p.Val1410Leu)
c.4435G>C (p.Val1479Leu)
n.3521G>C
c.4579G>C (p.Val1527Leu)
c.4576G>C (p.Val1526Leu)
c.3523G>C (p.Val1175Leu)
c.4369G>C (p.Val1457Leu)
c.3889G>C (p.Val1297Leu)
12g.47973436C>TCA384533125COL2A1c.4228G>A (p.Val1410Met)
c.4435G>A (p.Val1479Met)
n.3521G>A
c.4579G>A (p.Val1527Met)
c.4576G>A (p.Val1526Met)
c.3523G>A (p.Val1175Met)
c.4369G>A (p.Val1457Met)
c.3889G>A (p.Val1297Met)
 gnomAD v4
12g.47973437A>CCA479449215COL2A1c.4227T>G (p.Gly1409=)
c.4434T>G (p.Gly1478=)
n.3520T>G
c.4578T>G (p.Gly1526=)
c.4575T>G (p.Gly1525=)
c.3522T>G (p.Gly1174=)
c.4368T>G (p.Gly1456=)
c.3888T>G (p.Gly1296=)
12g.47973437A>GCA479449216COL2A1c.4227T>C (p.Gly1409=)
c.4434T>C (p.Gly1478=)
n.3520T>C
c.4578T>C (p.Gly1526=)
c.4575T>C (p.Gly1525=)
c.3522T>C (p.Gly1174=)
c.4368T>C (p.Gly1456=)
c.3888T>C (p.Gly1296=)
12g.47973437A>TCA479449217COL2A1c.4227T>A (p.Gly1409=)
c.4434T>A (p.Gly1478=)
n.3520T>A
c.4578T>A (p.Gly1526=)
c.4575T>A (p.Gly1525=)
c.3522T>A (p.Gly1174=)
c.4368T>A (p.Gly1456=)
c.3888T>A (p.Gly1296=)
12g.47973438C>ACA236515505COL2A1c.4226G>T (p.Gly1409Val)
c.4433G>T (p.Gly1478Val)
n.3519G>T
c.4577G>T (p.Gly1526Val)
c.4574G>T (p.Gly1525Val)
c.3521G>T (p.Gly1174Val)
c.4367G>T (p.Gly1456Val)
c.3887G>T (p.Gly1296Val)
 dbSNP
12g.47973438C=CA2034470586COL2A1c.4226G= (p.Gly1409=)
c.4433G= (p.Gly1478=)
n.3519G=
c.4577G= (p.Gly1526=)
c.4574G= (p.Gly1525=)
c.3521G= (p.Gly1174=)
c.4367G= (p.Gly1456=)
c.3887G= (p.Gly1296=)
12g.47973438C>GCA384533128COL2A1c.4226G>C (p.Gly1409Ala)
c.4433G>C (p.Gly1478Ala)
n.3519G>C
c.4577G>C (p.Gly1526Ala)
c.4574G>C (p.Gly1525Ala)
c.3521G>C (p.Gly1174Ala)
c.4367G>C (p.Gly1456Ala)
c.3887G>C (p.Gly1296Ala)
12g.47973438C>TCA384533129COL2A1c.4226G>A (p.Gly1409Asp)
c.4433G>A (p.Gly1478Asp)
n.3519G>A
c.4577G>A (p.Gly1526Asp)
c.4574G>A (p.Gly1525Asp)
c.3521G>A (p.Gly1174Asp)
c.4367G>A (p.Gly1456Asp)
c.3887G>A (p.Gly1296Asp)
 gnomAD v4
12g.47973439C>ACA384533130COL2A1c.4225G>T (p.Gly1409Cys)
c.4432G>T (p.Gly1478Cys)
n.3518G>T
c.4576G>T (p.Gly1526Cys)
c.4573G>T (p.Gly1525Cys)
c.3520G>T (p.Gly1174Cys)
c.4366G>T (p.Gly1456Cys)
c.3886G>T (p.Gly1296Cys)
12g.47973439C=CA2034470588COL2A1c.4225G= (p.Gly1409=)
c.4432G= (p.Gly1478=)
n.3518G=
c.4576G= (p.Gly1526=)
c.4573G= (p.Gly1525=)
c.3520G= (p.Gly1174=)
c.4366G= (p.Gly1456=)
c.3886G= (p.Gly1296=)
12g.47973439C>GCA384533131COL2A1c.4225G>C (p.Gly1409Arg)
c.4432G>C (p.Gly1478Arg)
n.3518G>C
c.4576G>C (p.Gly1526Arg)
c.4573G>C (p.Gly1525Arg)
c.3520G>C (p.Gly1174Arg)
c.4366G>C (p.Gly1456Arg)
c.3886G>C (p.Gly1296Arg)
12g.47973439C>TCA384533132COL2A1c.4225G>A (p.Gly1409Ser)
c.4432G>A (p.Gly1478Ser)
n.3518G>A
c.4576G>A (p.Gly1526Ser)
c.4573G>A (p.Gly1525Ser)
c.3520G>A (p.Gly1174Ser)
c.4366G>A (p.Gly1456Ser)
c.3886G>A (p.Gly1296Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47973440G>ACA6534453COL2A1c.4224C>T (p.Phe1408=)
c.4431C>T (p.Phe1477=)
n.3517C>T
c.4575C>T (p.Phe1525=)
c.4572C>T (p.Phe1524=)
c.3519C>T (p.Phe1173=)
c.4365C>T (p.Phe1455=)
c.3885C>T (p.Phe1295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973440G>CCA384533133COL2A1c.4224C>G (p.Phe1408Leu)
c.4431C>G (p.Phe1477Leu)
n.3517C>G
c.4575C>G (p.Phe1525Leu)
c.4572C>G (p.Phe1524Leu)
c.3519C>G (p.Phe1173Leu)
c.4365C>G (p.Phe1455Leu)
c.3885C>G (p.Phe1295Leu)
12g.47973440G=CA2034470595COL2A1c.4224C= (p.Phe1408=)
c.4431C= (p.Phe1477=)
n.3517C=
c.4575C= (p.Phe1525=)
c.4572C= (p.Phe1524=)
c.3519C= (p.Phe1173=)
c.4365C= (p.Phe1455=)
c.3885C= (p.Phe1295=)
12g.47973440G>TCA384533134COL2A1c.4224C>A (p.Phe1408Leu)
c.4431C>A (p.Phe1477Leu)
n.3517C>A
c.4575C>A (p.Phe1525Leu)
c.4572C>A (p.Phe1524Leu)
c.3519C>A (p.Phe1173Leu)
c.4365C>A (p.Phe1455Leu)
c.3885C>A (p.Phe1295Leu)
12g.47973441A>CCA384533135COL2A1c.4223T>G (p.Phe1408Cys)
c.4430T>G (p.Phe1477Cys)
n.3516T>G
c.4574T>G (p.Phe1525Cys)
c.4571T>G (p.Phe1524Cys)
c.3518T>G (p.Phe1173Cys)
c.4364T>G (p.Phe1455Cys)
c.3884T>G (p.Phe1295Cys)
12g.47973441A>GCA384533136COL2A1c.4223T>C (p.Phe1408Ser)
c.4430T>C (p.Phe1477Ser)
n.3516T>C
c.4574T>C (p.Phe1525Ser)
c.4571T>C (p.Phe1524Ser)
c.3518T>C (p.Phe1173Ser)
c.4364T>C (p.Phe1455Ser)
c.3884T>C (p.Phe1295Ser)
12g.47973441A>TCA384533137COL2A1c.4223T>A (p.Phe1408Tyr)
c.4430T>A (p.Phe1477Tyr)
n.3516T>A
c.4574T>A (p.Phe1525Tyr)
c.4571T>A (p.Phe1524Tyr)
c.3518T>A (p.Phe1173Tyr)
c.4364T>A (p.Phe1455Tyr)
c.3884T>A (p.Phe1295Tyr)
12g.47973442A>CCA384533140COL2A1c.4222T>G (p.Phe1408Val)
c.4429T>G (p.Phe1477Val)
n.3515T>G
c.4573T>G (p.Phe1525Val)
c.4570T>G (p.Phe1524Val)
c.3517T>G (p.Phe1173Val)
c.4363T>G (p.Phe1455Val)
c.3883T>G (p.Phe1295Val)
12g.47973442A>GCA384533139COL2A1c.4222T>C (p.Phe1408Leu)
c.4429T>C (p.Phe1477Leu)
n.3515T>C
c.4573T>C (p.Phe1525Leu)
c.4570T>C (p.Phe1524Leu)
c.3517T>C (p.Phe1173Leu)
c.4363T>C (p.Phe1455Leu)
c.3883T>C (p.Phe1295Leu)
 ClinVar dbSNP
12g.47973442A>TCA384533138COL2A1c.4222T>A (p.Phe1408Ile)
c.4429T>A (p.Phe1477Ile)
n.3515T>A
c.4573T>A (p.Phe1525Ile)
c.4570T>A (p.Phe1524Ile)
c.3517T>A (p.Phe1173Ile)
c.4363T>A (p.Phe1455Ile)
c.3883T>A (p.Phe1295Ile)
12g.47973443T>ACA384533141COL2A1c.4221A>T (p.Glu1407Asp)
c.4428A>T (p.Glu1476Asp)
n.3514A>T
c.4572A>T (p.Glu1524Asp)
c.4569A>T (p.Glu1523Asp)
c.3516A>T (p.Glu1172Asp)
c.4362A>T (p.Glu1454Asp)
c.3882A>T (p.Glu1294Asp)
12g.47973443T>CCA479449218COL2A1c.4221A>G (p.Glu1407=)
c.4428A>G (p.Glu1476=)
n.3514A>G
c.4572A>G (p.Glu1524=)
c.4569A>G (p.Glu1523=)
c.3516A>G (p.Glu1172=)
c.4362A>G (p.Glu1454=)
c.3882A>G (p.Glu1294=)
12g.47973443T>GCA384533142COL2A1c.4221A>C (p.Glu1407Asp)
c.4428A>C (p.Glu1476Asp)
n.3514A>C
c.4572A>C (p.Glu1524Asp)
c.4569A>C (p.Glu1523Asp)
c.3516A>C (p.Glu1172Asp)
c.4362A>C (p.Glu1454Asp)
c.3882A>C (p.Glu1294Asp)
12g.47973444delCA2695216606COL2A1c.4221del (p.Glu1407AspfsTer6)
c.4428del (p.Glu1476AspfsTer6)
n.3514del
c.4572del (p.Glu1524AspfsTer6)
c.4569del (p.Glu1523AspfsTer6)
c.3516del (p.Glu1172AspfsTer6)
c.4362del (p.Glu1454AspfsTer6)
c.3882del (p.Glu1294AspfsTer6)
12g.47973444T>ACA384533143COL2A1c.4220A>T (p.Glu1407Val)
c.4427A>T (p.Glu1476Val)
n.3513A>T
c.4571A>T (p.Glu1524Val)
c.4568A>T (p.Glu1523Val)
c.3515A>T (p.Glu1172Val)
c.4361A>T (p.Glu1454Val)
c.3881A>T (p.Glu1294Val)
12g.47973444T>CCA384533144COL2A1c.4220A>G (p.Glu1407Gly)
c.4427A>G (p.Glu1476Gly)
n.3513A>G
c.4571A>G (p.Glu1524Gly)
c.4568A>G (p.Glu1523Gly)
c.3515A>G (p.Glu1172Gly)
c.4361A>G (p.Glu1454Gly)
c.3881A>G (p.Glu1294Gly)
12g.47973444T>GCA384533145COL2A1c.4220A>C (p.Glu1407Ala)
c.4427A>C (p.Glu1476Ala)
n.3513A>C
c.4571A>C (p.Glu1524Ala)
c.4568A>C (p.Glu1523Ala)
c.3515A>C (p.Glu1172Ala)
c.4361A>C (p.Glu1454Ala)
c.3881A>C (p.Glu1294Ala)
12g.47973445C>ACA384533146COL2A1c.4219G>T (p.Glu1407Ter)
c.4426G>T (p.Glu1476Ter)
n.3512G>T
c.4570G>T (p.Glu1524Ter)
c.4567G>T (p.Glu1523Ter)
c.3514G>T (p.Glu1172Ter)
c.4360G>T (p.Glu1454Ter)
c.3880G>T (p.Glu1294Ter)
12g.47973445C=CA2034470599COL2A1c.4219G= (p.Glu1407=)
c.4426G= (p.Glu1476=)
n.3512G=
c.4570G= (p.Glu1524=)
c.4567G= (p.Glu1523=)
c.3514G= (p.Glu1172=)
c.4360G= (p.Glu1454=)
c.3880G= (p.Glu1294=)
12g.47973445C>GCA384533147COL2A1c.4219G>C (p.Glu1407Gln)
c.4426G>C (p.Glu1476Gln)
n.3512G>C
c.4570G>C (p.Glu1524Gln)
c.4567G>C (p.Glu1523Gln)
c.3514G>C (p.Glu1172Gln)
c.4360G>C (p.Glu1454Gln)
c.3880G>C (p.Glu1294Gln)
 dbSNP
12g.47973445C>TCA384533148COL2A1c.4219G>A (p.Glu1407Lys)
c.4426G>A (p.Glu1476Lys)
n.3512G>A
c.4570G>A (p.Glu1524Lys)
c.4567G>A (p.Glu1523Lys)
c.3514G>A (p.Glu1172Lys)
c.4360G>A (p.Glu1454Lys)
c.3880G>A (p.Glu1294Lys)
12g.47973446C>ACA384533149COL2A1c.4218G>T (p.Gln1406His)
c.4425G>T (p.Gln1475His)
n.3511G>T
c.4569G>T (p.Gln1523His)
c.4566G>T (p.Gln1522His)
c.3513G>T (p.Gln1171His)
c.4359G>T (p.Gln1453His)
c.3879G>T (p.Gln1293His)
12g.47973446C>GCA384533150COL2A1c.4218G>C (p.Gln1406His)
c.4425G>C (p.Gln1475His)
n.3511G>C
c.4569G>C (p.Gln1523His)
c.4566G>C (p.Gln1522His)
c.3513G>C (p.Gln1171His)
c.4359G>C (p.Gln1453His)
c.3879G>C (p.Gln1293His)
12g.47973446C>TCA479449219COL2A1c.4218G>A (p.Gln1406=)
c.4425G>A (p.Gln1475=)
n.3511G>A
c.4569G>A (p.Gln1523=)
c.4566G>A (p.Gln1522=)
c.3513G>A (p.Gln1171=)
c.4359G>A (p.Gln1453=)
c.3879G>A (p.Gln1293=)
12g.47973447T>ACA384533151COL2A1c.4217A>T (p.Gln1406Leu)
c.4424A>T (p.Gln1475Leu)
n.3510A>T
c.4568A>T (p.Gln1523Leu)
c.4565A>T (p.Gln1522Leu)
c.3512A>T (p.Gln1171Leu)
c.4358A>T (p.Gln1453Leu)
c.3878A>T (p.Gln1293Leu)
12g.47973447T>CCA384533152COL2A1c.4217A>G (p.Gln1406Arg)
c.4424A>G (p.Gln1475Arg)
n.3510A>G
c.4568A>G (p.Gln1523Arg)
c.4565A>G (p.Gln1522Arg)
c.3512A>G (p.Gln1171Arg)
c.4358A>G (p.Gln1453Arg)
c.3878A>G (p.Gln1293Arg)
12g.47973447T>GCA384533153COL2A1c.4217A>C (p.Gln1406Pro)
c.4424A>C (p.Gln1475Pro)
n.3510A>C
c.4568A>C (p.Gln1523Pro)
c.4565A>C (p.Gln1522Pro)
c.3512A>C (p.Gln1171Pro)
c.4358A>C (p.Gln1453Pro)
c.3878A>C (p.Gln1293Pro)
12g.47973448G>ACA384533156COL2A1c.4216C>T (p.Gln1406Ter)
c.4423C>T (p.Gln1475Ter)
n.3509C>T
c.4567C>T (p.Gln1523Ter)
c.4564C>T (p.Gln1522Ter)
c.3511C>T (p.Gln1171Ter)
c.4357C>T (p.Gln1453Ter)
c.3877C>T (p.Gln1293Ter)
 COSMIC COSMIC
12g.47973448G>CCA384533155COL2A1c.4216C>G (p.Gln1406Glu)
c.4423C>G (p.Gln1475Glu)
n.3509C>G
c.4567C>G (p.Gln1523Glu)
c.4564C>G (p.Gln1522Glu)
c.3511C>G (p.Gln1171Glu)
c.4357C>G (p.Gln1453Glu)
c.3877C>G (p.Gln1293Glu)
12g.47973448G>TCA384533154COL2A1c.4216C>A (p.Gln1406Lys)
c.4423C>A (p.Gln1475Lys)
n.3509C>A
c.4567C>A (p.Gln1523Lys)
c.4564C>A (p.Gln1522Lys)
c.3511C>A (p.Gln1171Lys)
c.4357C>A (p.Gln1453Lys)
c.3877C>A (p.Gln1293Lys)
12g.47973449C>ACA384533157COL2A1c.4215G>T (p.Glu1405Asp)
c.4422G>T (p.Glu1474Asp)
n.3508G>T
c.4566G>T (p.Glu1522Asp)
c.4563G>T (p.Glu1521Asp)
c.3510G>T (p.Glu1170Asp)
c.4356G>T (p.Glu1452Asp)
c.3876G>T (p.Glu1292Asp)
12g.47973449C=CA2034470602COL2A1c.4215G= (p.Glu1405=)
c.4422G= (p.Glu1474=)
n.3508G=
c.4566G= (p.Glu1522=)
c.4563G= (p.Glu1521=)
c.3510G= (p.Glu1170=)
c.4356G= (p.Glu1452=)
c.3876G= (p.Glu1292=)
12g.47973449C>GCA6534455COL2A1c.4215G>C (p.Glu1405Asp)
c.4422G>C (p.Glu1474Asp)
n.3508G>C
c.4566G>C (p.Glu1522Asp)
c.4563G>C (p.Glu1521Asp)
c.3510G>C (p.Glu1170Asp)
c.4356G>C (p.Glu1452Asp)
c.3876G>C (p.Glu1292Asp)
 dbSNP ExAC
12g.47973449C>TCA6534454COL2A1c.4215G>A (p.Glu1405=)
c.4422G>A (p.Glu1474=)
n.3508G>A
c.4566G>A (p.Glu1522=)
c.4563G>A (p.Glu1521=)
c.3510G>A (p.Glu1170=)
c.4356G>A (p.Glu1452=)
c.3876G>A (p.Glu1292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973450T>ACA384533158COL2A1c.4214A>T (p.Glu1405Val)
c.4421A>T (p.Glu1474Val)
n.3507A>T
c.4565A>T (p.Glu1522Val)
c.4562A>T (p.Glu1521Val)
c.3509A>T (p.Glu1170Val)
c.4355A>T (p.Glu1452Val)
c.3875A>T (p.Glu1292Val)
12g.47973450T>CCA384533159COL2A1c.4214A>G (p.Glu1405Gly)
c.4421A>G (p.Glu1474Gly)
n.3507A>G
c.4565A>G (p.Glu1522Gly)
c.4562A>G (p.Glu1521Gly)
c.3509A>G (p.Glu1170Gly)
c.4355A>G (p.Glu1452Gly)
c.3875A>G (p.Glu1292Gly)
12g.47973450T>GCA384533160COL2A1c.4214A>C (p.Glu1405Ala)
c.4421A>C (p.Glu1474Ala)
n.3507A>C
c.4565A>C (p.Glu1522Ala)
c.4562A>C (p.Glu1521Ala)
c.3509A>C (p.Glu1170Ala)
c.4355A>C (p.Glu1452Ala)
c.3875A>C (p.Glu1292Ala)
12g.47973451C>ACA384533161COL2A1c.4213G>T (p.Glu1405Ter)
c.4420G>T (p.Glu1474Ter)
n.3506G>T
c.4564G>T (p.Glu1522Ter)
c.4561G>T (p.Glu1521Ter)
c.3508G>T (p.Glu1170Ter)
c.4354G>T (p.Glu1452Ter)
c.3874G>T (p.Glu1292Ter)
12g.47973451C=CA2034470610COL2A1c.4213G= (p.Glu1405=)
c.4420G= (p.Glu1474=)
n.3506G=
c.4564G= (p.Glu1522=)
c.4561G= (p.Glu1521=)
c.3508G= (p.Glu1170=)
c.4354G= (p.Glu1452=)
c.3874G= (p.Glu1292=)
12g.47973451C>GCA6534457COL2A1c.4213G>C (p.Glu1405Gln)
c.4420G>C (p.Glu1474Gln)
n.3506G>C
c.4564G>C (p.Glu1522Gln)
c.4561G>C (p.Glu1521Gln)
c.3508G>C (p.Glu1170Gln)
c.4354G>C (p.Glu1452Gln)
c.3874G>C (p.Glu1292Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973451C>TCA6534456COL2A1c.4213G>A (p.Glu1405Lys)
c.4420G>A (p.Glu1474Lys)
n.3506G>A
c.4564G>A (p.Glu1522Lys)
c.4561G>A (p.Glu1521Lys)
c.3508G>A (p.Glu1170Lys)
c.4354G>A (p.Glu1452Lys)
c.3874G>A (p.Glu1292Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973452G>ACA6534458COL2A1c.4212C>T (p.Pro1404=)
c.4419C>T (p.Pro1473=)
n.3505C>T
c.4563C>T (p.Pro1521=)
c.4560C>T (p.Pro1520=)
c.3507C>T (p.Pro1169=)
c.4353C>T (p.Pro1451=)
c.3873C>T (p.Pro1291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973452G>CCA479449220COL2A1c.4212C>G (p.Pro1404=)
c.4419C>G (p.Pro1473=)
n.3505C>G
c.4563C>G (p.Pro1521=)
c.4560C>G (p.Pro1520=)
c.3507C>G (p.Pro1169=)
c.4353C>G (p.Pro1451=)
c.3873C>G (p.Pro1291=)
12g.47973452G=CA2034470615COL2A1c.4212C= (p.Pro1404=)
c.4419C= (p.Pro1473=)
n.3505C=
c.4563C= (p.Pro1521=)
c.4560C= (p.Pro1520=)
c.3507C= (p.Pro1169=)
c.4353C= (p.Pro1451=)
c.3873C= (p.Pro1291=)
12g.47973452G>TCA479449221COL2A1c.4212C>A (p.Pro1404=)
c.4419C>A (p.Pro1473=)
n.3505C>A
c.4563C>A (p.Pro1521=)
c.4560C>A (p.Pro1520=)
c.3507C>A (p.Pro1169=)
c.4353C>A (p.Pro1451=)
c.3873C>A (p.Pro1291=)
12g.47973453G>ACA384533162COL2A1c.4211C>T (p.Pro1404Leu)
c.4418C>T (p.Pro1473Leu)
n.3504C>T
c.4562C>T (p.Pro1521Leu)
c.4559C>T (p.Pro1520Leu)
c.3506C>T (p.Pro1169Leu)
c.4352C>T (p.Pro1451Leu)
c.3872C>T (p.Pro1291Leu)
 gnomAD v4
12g.47973453G>CCA384533163COL2A1c.4211C>G (p.Pro1404Arg)
c.4418C>G (p.Pro1473Arg)
n.3504C>G
c.4562C>G (p.Pro1521Arg)
c.4559C>G (p.Pro1520Arg)
c.3506C>G (p.Pro1169Arg)
c.4352C>G (p.Pro1451Arg)
c.3872C>G (p.Pro1291Arg)
12g.47973453G>TCA384533164COL2A1c.4211C>A (p.Pro1404His)
c.4418C>A (p.Pro1473His)
n.3504C>A
c.4562C>A (p.Pro1521His)
c.4559C>A (p.Pro1520His)
c.3506C>A (p.Pro1169His)
c.4352C>A (p.Pro1451His)
c.3872C>A (p.Pro1291His)
12g.47973454G>ACA384533167COL2A1c.4210C>T (p.Pro1404Ser)
c.4417C>T (p.Pro1473Ser)
n.3503C>T
c.4561C>T (p.Pro1521Ser)
c.4558C>T (p.Pro1520Ser)
c.3505C>T (p.Pro1169Ser)
c.4351C>T (p.Pro1451Ser)
c.3871C>T (p.Pro1291Ser)
12g.47973454G>CCA384533166COL2A1c.4210C>G (p.Pro1404Ala)
c.4417C>G (p.Pro1473Ala)
n.3503C>G
c.4561C>G (p.Pro1521Ala)
c.4558C>G (p.Pro1520Ala)
c.3505C>G (p.Pro1169Ala)
c.4351C>G (p.Pro1451Ala)
c.3871C>G (p.Pro1291Ala)
12g.47973454G>TCA384533165COL2A1c.4210C>A (p.Pro1404Thr)
c.4417C>A (p.Pro1473Thr)
n.3503C>A
c.4561C>A (p.Pro1521Thr)
c.4558C>A (p.Pro1520Thr)
c.3505C>A (p.Pro1169Thr)
c.4351C>A (p.Pro1451Thr)
c.3871C>A (p.Pro1291Thr)
12g.47973454_47973458delinsGCCCTCA2034470622COL2A1c.4206_4210delinsAGGGC (p.Gly1402=)
c.4413_4417delinsAGGGC (p.Gly1471=)
n.3499_3503delinsAGGGC
c.4557_4561delinsAGGGC (p.Gly1519=)
c.4554_4558delinsAGGGC (p.Gly1518=)
c.3501_3505delinsAGGGC (p.Gly1167=)
c.4347_4351delinsAGGGC (p.Gly1449=)
c.3867_3871delinsAGGGC (p.Gly1289=)
12g.47973455C>ACA479449222COL2A1c.4209G>T (p.Gly1403=)
c.4416G>T (p.Gly1472=)
n.3502G>T
c.4560G>T (p.Gly1520=)
c.4557G>T (p.Gly1519=)
c.3504G>T (p.Gly1168=)
c.4350G>T (p.Gly1450=)
c.3870G>T (p.Gly1290=)
12g.47973455C=CA2034470628COL2A1c.4209G= (p.Gly1403=)
c.4416G= (p.Gly1472=)
n.3502G=
c.4560G= (p.Gly1520=)
c.4557G= (p.Gly1519=)
c.3504G= (p.Gly1168=)
c.4350G= (p.Gly1450=)
c.3870G= (p.Gly1290=)
12g.47973455C>GCA479449224COL2A1c.4209G>C (p.Gly1403=)
c.4416G>C (p.Gly1472=)
n.3502G>C
c.4560G>C (p.Gly1520=)
c.4557G>C (p.Gly1519=)
c.3504G>C (p.Gly1168=)
c.4350G>C (p.Gly1450=)
c.3870G>C (p.Gly1290=)
 dbSNP gnomAD v4
12g.47973455C>TCA479449223COL2A1c.4209G>A (p.Gly1403=)
c.4416G>A (p.Gly1472=)
n.3502G>A
c.4560G>A (p.Gly1520=)
c.4557G>A (p.Gly1519=)
c.3504G>A (p.Gly1168=)
c.4350G>A (p.Gly1450=)
c.3870G>A (p.Gly1290=)
 gnomAD v4
12g.47973457_47973460delCA913186003COL2A1c.4206_4209del (p.Gly1403ProfsTer9)
c.4413_4416del (p.Gly1472ProfsTer9)
n.3499_3502del
c.4557_4560del (p.Gly1520ProfsTer9)
c.4554_4557del (p.Gly1519ProfsTer9)
c.3501_3504del (p.Gly1168ProfsTer9)
c.4347_4350del (p.Gly1450ProfsTer9)
c.3867_3870del (p.Gly1290ProfsTer9)
 ClinVar dbSNP
12g.47973456C>ACA384533169COL2A1c.4208G>T (p.Gly1403Val)
c.4415G>T (p.Gly1472Val)
n.3501G>T
c.4559G>T (p.Gly1520Val)
c.4556G>T (p.Gly1519Val)
c.3503G>T (p.Gly1168Val)
c.4349G>T (p.Gly1450Val)
c.3869G>T (p.Gly1290Val)
12g.47973456C=CA2034470633COL2A1c.4208G= (p.Gly1403=)
c.4415G= (p.Gly1472=)
n.3501G=
c.4559G= (p.Gly1520=)
c.4556G= (p.Gly1519=)
c.3503G= (p.Gly1168=)
c.4349G= (p.Gly1450=)
c.3869G= (p.Gly1290=)
12g.47973456C>GCA384533168COL2A1c.4208G>C (p.Gly1403Ala)
c.4415G>C (p.Gly1472Ala)
n.3501G>C
c.4559G>C (p.Gly1520Ala)
c.4556G>C (p.Gly1519Ala)
c.3503G>C (p.Gly1168Ala)
c.4349G>C (p.Gly1450Ala)
c.3869G>C (p.Gly1290Ala)
12g.47973456C>TCA236515536COL2A1c.4208G>A (p.Gly1403Glu)
c.4415G>A (p.Gly1472Glu)
n.3501G>A
c.4559G>A (p.Gly1520Glu)
c.4556G>A (p.Gly1519Glu)
c.3503G>A (p.Gly1168Glu)
c.4349G>A (p.Gly1450Glu)
c.3869G>A (p.Gly1290Glu)
 ClinVar dbSNP gnomAD v4
12g.47973457C>ACA6534459COL2A1c.4207G>T (p.Gly1403Trp)
c.4414G>T (p.Gly1472Trp)
n.3500G>T
c.4558G>T (p.Gly1520Trp)
c.4555G>T (p.Gly1519Trp)
c.3502G>T (p.Gly1168Trp)
c.4348G>T (p.Gly1450Trp)
c.3868G>T (p.Gly1290Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.47973457C=CA2034470637COL2A1c.4207G= (p.Gly1403=)
c.4414G= (p.Gly1472=)
n.3500G=
c.4558G= (p.Gly1520=)
c.4555G= (p.Gly1519=)
c.3502G= (p.Gly1168=)
c.4348G= (p.Gly1450=)
c.3868G= (p.Gly1290=)
12g.47973457C>GCA246379COL2A1c.4207G>C (p.Gly1403Arg)
c.4414G>C (p.Gly1472Arg)
n.3500G>C
c.4558G>C (p.Gly1520Arg)
c.4555G>C (p.Gly1519Arg)
c.3502G>C (p.Gly1168Arg)
c.4348G>C (p.Gly1450Arg)
c.3868G>C (p.Gly1290Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973457C>TCA384533170COL2A1c.4207G>A (p.Gly1403Arg)
c.4414G>A (p.Gly1472Arg)
n.3500G>A
c.4558G>A (p.Gly1520Arg)
c.4555G>A (p.Gly1519Arg)
c.3502G>A (p.Gly1168Arg)
c.4348G>A (p.Gly1450Arg)
c.3868G>A (p.Gly1290Arg)
 dbSNP gnomAD v4
12g.47973458T>ACA479449225COL2A1c.4206A>T (p.Gly1402=)
c.4413A>T (p.Gly1471=)
n.3499A>T
c.4557A>T (p.Gly1519=)
c.4554A>T (p.Gly1518=)
c.3501A>T (p.Gly1167=)
c.4347A>T (p.Gly1449=)
c.3867A>T (p.Gly1289=)
12g.47973458T>CCA6534461COL2A1c.4206A>G (p.Gly1402=)
c.4413A>G (p.Gly1471=)
n.3499A>G
c.4557A>G (p.Gly1519=)
c.4554A>G (p.Gly1518=)
c.3501A>G (p.Gly1167=)
c.4347A>G (p.Gly1449=)
c.3867A>G (p.Gly1289=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973458T>GCA6534460COL2A1c.4206A>C (p.Gly1402=)
c.4413A>C (p.Gly1471=)
n.3499A>C
c.4557A>C (p.Gly1519=)
c.4554A>C (p.Gly1518=)
c.3501A>C (p.Gly1167=)
c.4347A>C (p.Gly1449=)
c.3867A>C (p.Gly1289=)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.47973458T=CA2034470650COL2A1c.4206A= (p.Gly1402=)
c.4413A= (p.Gly1471=)
n.3499A=
c.4557A= (p.Gly1519=)
c.4554A= (p.Gly1518=)
c.3501A= (p.Gly1167=)
c.4347A= (p.Gly1449=)
c.3867A= (p.Gly1289=)
12g.47973459C>ACA384533171COL2A1c.4205G>T (p.Gly1402Val)
c.4412G>T (p.Gly1471Val)
n.3498G>T
c.4556G>T (p.Gly1519Val)
c.4553G>T (p.Gly1518Val)
c.3500G>T (p.Gly1167Val)
c.4346G>T (p.Gly1449Val)
c.3866G>T (p.Gly1289Val)
12g.47973459C>GCA384533173COL2A1c.4205G>C (p.Gly1402Ala)
c.4412G>C (p.Gly1471Ala)
n.3498G>C
c.4556G>C (p.Gly1519Ala)
c.4553G>C (p.Gly1518Ala)
c.3500G>C (p.Gly1167Ala)
c.4346G>C (p.Gly1449Ala)
c.3866G>C (p.Gly1289Ala)
12g.47973459C>TCA384533172COL2A1c.4205G>A (p.Gly1402Glu)
c.4412G>A (p.Gly1471Glu)
n.3498G>A
c.4556G>A (p.Gly1519Glu)
c.4553G>A (p.Gly1518Glu)
c.3500G>A (p.Gly1167Glu)
c.4346G>A (p.Gly1449Glu)
c.3866G>A (p.Gly1289Glu)
12g.47973460C>ACA384533174COL2A1c.4204G>T (p.Gly1402Ter)
c.4411G>T (p.Gly1471Ter)
n.3497G>T
c.4555G>T (p.Gly1519Ter)
c.4552G>T (p.Gly1518Ter)
c.3499G>T (p.Gly1167Ter)
c.4345G>T (p.Gly1449Ter)
c.3865G>T (p.Gly1289Ter)
12g.47973460C=CA2034470654COL2A1c.4204G= (p.Gly1402=)
c.4411G= (p.Gly1471=)
n.3497G=
c.4555G= (p.Gly1519=)
c.4552G= (p.Gly1518=)
c.3499G= (p.Gly1167=)
c.4345G= (p.Gly1449=)
c.3865G= (p.Gly1289=)
12g.47973460C>GCA384533175COL2A1c.4204G>C (p.Gly1402Arg)
c.4411G>C (p.Gly1471Arg)
n.3497G>C
c.4555G>C (p.Gly1519Arg)
c.4552G>C (p.Gly1518Arg)
c.3499G>C (p.Gly1167Arg)
c.4345G>C (p.Gly1449Arg)
c.3865G>C (p.Gly1289Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.47973460C>TCA384533176COL2A1c.4204G>A (p.Gly1402Arg)
c.4411G>A (p.Gly1471Arg)
n.3497G>A
c.4555G>A (p.Gly1519Arg)
c.4552G>A (p.Gly1518Arg)
c.3499G>A (p.Gly1167Arg)
c.4345G>A (p.Gly1449Arg)
c.3865G>A (p.Gly1289Arg)
 COSMIC COSMIC
12g.47973461T>ACA479449226COL2A1c.4203A>T (p.Ile1401=)
c.4410A>T (p.Ile1470=)
n.3496A>T
c.4554A>T (p.Ile1518=)
c.4551A>T (p.Ile1517=)
c.3498A>T (p.Ile1166=)
c.4344A>T (p.Ile1448=)
c.3864A>T (p.Ile1288=)
12g.47973461T>CCA384533177COL2A1c.4203A>G (p.Ile1401Met)
c.4410A>G (p.Ile1470Met)
n.3496A>G
c.4554A>G (p.Ile1518Met)
c.4551A>G (p.Ile1517Met)
c.3498A>G (p.Ile1166Met)
c.4344A>G (p.Ile1448Met)
c.3864A>G (p.Ile1288Met)
12g.47973461T>GCA479449227COL2A1c.4203A>C (p.Ile1401=)
c.4410A>C (p.Ile1470=)
n.3496A>C
c.4554A>C (p.Ile1518=)
c.4551A>C (p.Ile1517=)
c.3498A>C (p.Ile1166=)
c.4344A>C (p.Ile1448=)
c.3864A>C (p.Ile1288=)
12g.47973462A=CA2034470664COL2A1c.4202T= (p.Ile1401=)
c.4409T= (p.Ile1470=)
n.3495T=
c.4553T= (p.Ile1518=)
c.4550T= (p.Ile1517=)
c.3497T= (p.Ile1166=)
c.4343T= (p.Ile1448=)
c.3863T= (p.Ile1288=)
12g.47973462A>CCA384533178COL2A1c.4202T>G (p.Ile1401Arg)
c.4409T>G (p.Ile1470Arg)
n.3495T>G
c.4553T>G (p.Ile1518Arg)
c.4550T>G (p.Ile1517Arg)
c.3497T>G (p.Ile1166Arg)
c.4343T>G (p.Ile1448Arg)
c.3863T>G (p.Ile1288Arg)
12g.47973462A>GCA384533180COL2A1c.4202T>C (p.Ile1401Thr)
c.4409T>C (p.Ile1470Thr)
n.3495T>C
c.4553T>C (p.Ile1518Thr)
c.4550T>C (p.Ile1517Thr)
c.3497T>C (p.Ile1166Thr)
c.4343T>C (p.Ile1448Thr)
c.3863T>C (p.Ile1288Thr)
 ClinVar dbSNP gnomAD v4
12g.47973462A>TCA384533179COL2A1c.4202T>A (p.Ile1401Lys)
c.4409T>A (p.Ile1470Lys)
n.3495T>A
c.4553T>A (p.Ile1518Lys)
c.4550T>A (p.Ile1517Lys)
c.3497T>A (p.Ile1166Lys)
c.4343T>A (p.Ile1448Lys)
c.3863T>A (p.Ile1288Lys)
12g.47973463T>ACA384533181COL2A1c.4201A>T (p.Ile1401Leu)
c.4408A>T (p.Ile1470Leu)
n.3494A>T
c.4552A>T (p.Ile1518Leu)
c.4549A>T (p.Ile1517Leu)
c.3496A>T (p.Ile1166Leu)
c.4342A>T (p.Ile1448Leu)
c.3862A>T (p.Ile1288Leu)
12g.47973463T>CCA6534462COL2A1c.4201A>G (p.Ile1401Val)
c.4408A>G (p.Ile1470Val)
n.3494A>G
c.4552A>G (p.Ile1518Val)
c.4549A>G (p.Ile1517Val)
c.3496A>G (p.Ile1166Val)
c.4342A>G (p.Ile1448Val)
c.3862A>G (p.Ile1288Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973463T>GCA384533182COL2A1c.4201A>C (p.Ile1401Leu)
c.4408A>C (p.Ile1470Leu)
n.3494A>C
c.4552A>C (p.Ile1518Leu)
c.4549A>C (p.Ile1517Leu)
c.3496A>C (p.Ile1166Leu)
c.4342A>C (p.Ile1448Leu)
c.3862A>C (p.Ile1288Leu)
12g.47973463T=CA2034470669COL2A1c.4201A= (p.Ile1401=)
c.4408A= (p.Ile1470=)
n.3494A=
c.4552A= (p.Ile1518=)
c.4549A= (p.Ile1517=)
c.3496A= (p.Ile1166=)
c.4342A= (p.Ile1448=)
c.3862A= (p.Ile1288=)
12g.47973464G>ACA6534463COL2A1c.4200C>T (p.Asp1400=)
c.4407C>T (p.Asp1469=)
n.3493C>T
c.4551C>T (p.Asp1517=)
c.4548C>T (p.Asp1516=)
c.3495C>T (p.Asp1165=)
c.4341C>T (p.Asp1447=)
c.3861C>T (p.Asp1287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973464G>CCA384533183COL2A1c.4200C>G (p.Asp1400Glu)
c.4407C>G (p.Asp1469Glu)
n.3493C>G
c.4551C>G (p.Asp1517Glu)
c.4548C>G (p.Asp1516Glu)
c.3495C>G (p.Asp1165Glu)
c.4341C>G (p.Asp1447Glu)
c.3861C>G (p.Asp1287Glu)
12g.47973464G=CA2034470673COL2A1c.4200C= (p.Asp1400=)
c.4407C= (p.Asp1469=)
n.3493C=
c.4551C= (p.Asp1517=)
c.4548C= (p.Asp1516=)
c.3495C= (p.Asp1165=)
c.4341C= (p.Asp1447=)
c.3861C= (p.Asp1287=)
12g.47973464G>TCA384533184COL2A1c.4200C>A (p.Asp1400Glu)
c.4407C>A (p.Asp1469Glu)
n.3493C>A
c.4551C>A (p.Asp1517Glu)
c.4548C>A (p.Asp1516Glu)
c.3495C>A (p.Asp1165Glu)
c.4341C>A (p.Asp1447Glu)
c.3861C>A (p.Asp1287Glu)
12g.47973465T>ACA384533185COL2A1c.4199A>T (p.Asp1400Val)
c.4406A>T (p.Asp1469Val)
n.3492A>T
c.4550A>T (p.Asp1517Val)
c.4547A>T (p.Asp1516Val)
c.3494A>T (p.Asp1165Val)
c.4340A>T (p.Asp1447Val)
c.3860A>T (p.Asp1287Val)
12g.47973465T>CCA384533186COL2A1c.4199A>G (p.Asp1400Gly)
c.4406A>G (p.Asp1469Gly)
n.3492A>G
c.4550A>G (p.Asp1517Gly)
c.4547A>G (p.Asp1516Gly)
c.3494A>G (p.Asp1165Gly)
c.4340A>G (p.Asp1447Gly)
c.3860A>G (p.Asp1287Gly)
12g.47973465T>GCA384533187COL2A1c.4199A>C (p.Asp1400Ala)
c.4406A>C (p.Asp1469Ala)
n.3492A>C
c.4550A>C (p.Asp1517Ala)
c.4547A>C (p.Asp1516Ala)
c.3494A>C (p.Asp1165Ala)
c.4340A>C (p.Asp1447Ala)
c.3860A>C (p.Asp1287Ala)
12g.47973466C>ACA384533188COL2A1c.4198G>T (p.Asp1400Tyr)
c.4405G>T (p.Asp1469Tyr)
n.3491G>T
c.4549G>T (p.Asp1517Tyr)
c.4546G>T (p.Asp1516Tyr)
c.3493G>T (p.Asp1165Tyr)
c.4339G>T (p.Asp1447Tyr)
c.3859G>T (p.Asp1287Tyr)
 ClinVar dbSNP
12g.47973466C>GCA384533189COL2A1c.4198G>C (p.Asp1400His)
c.4405G>C (p.Asp1469His)
n.3491G>C
c.4549G>C (p.Asp1517His)
c.4546G>C (p.Asp1516His)
c.3493G>C (p.Asp1165His)
c.4339G>C (p.Asp1447His)
c.3859G>C (p.Asp1287His)
12g.47973466C>TCA384533190COL2A1c.4198G>A (p.Asp1400Asn)
c.4405G>A (p.Asp1469Asn)
n.3491G>A
c.4549G>A (p.Asp1517Asn)
c.4546G>A (p.Asp1516Asn)
c.3493G>A (p.Asp1165Asn)
c.4339G>A (p.Asp1447Asn)
c.3859G>A (p.Asp1287Asn)
12g.47973467C>ACA384533192COL2A1c.4197G>T (p.Met1399Ile)
c.4404G>T (p.Met1468Ile)
n.3490G>T
c.4548G>T (p.Met1516Ile)
c.4545G>T (p.Met1515Ile)
c.3492G>T (p.Met1164Ile)
c.4338G>T (p.Met1446Ile)
c.3858G>T (p.Met1286Ile)
12g.47973467C>GCA384533193COL2A1c.4197G>C (p.Met1399Ile)
c.4404G>C (p.Met1468Ile)
n.3490G>C
c.4548G>C (p.Met1516Ile)
c.4545G>C (p.Met1515Ile)
c.3492G>C (p.Met1164Ile)
c.4338G>C (p.Met1446Ile)
c.3858G>C (p.Met1286Ile)
12g.47973467C>TCA384533191COL2A1c.4197G>A (p.Met1399Ile)
c.4404G>A (p.Met1468Ile)
n.3490G>A
c.4548G>A (p.Met1516Ile)
c.4545G>A (p.Met1515Ile)
c.3492G>A (p.Met1164Ile)
c.4338G>A (p.Met1446Ile)
c.3858G>A (p.Met1286Ile)
 gnomAD v4
12g.47973468A>CCA384533194COL2A1c.4196T>G (p.Met1399Arg)
c.4403T>G (p.Met1468Arg)
n.3489T>G
c.4547T>G (p.Met1516Arg)
c.4544T>G (p.Met1515Arg)
c.3491T>G (p.Met1164Arg)
c.4337T>G (p.Met1446Arg)
c.3857T>G (p.Met1286Arg)
12g.47973468A>GCA384533196COL2A1c.4196T>C (p.Met1399Thr)
c.4403T>C (p.Met1468Thr)
n.3489T>C
c.4547T>C (p.Met1516Thr)
c.4544T>C (p.Met1515Thr)
c.3491T>C (p.Met1164Thr)
c.4337T>C (p.Met1446Thr)
c.3857T>C (p.Met1286Thr)
12g.47973468A>TCA384533195COL2A1c.4196T>A (p.Met1399Lys)
c.4403T>A (p.Met1468Lys)
n.3489T>A
c.4547T>A (p.Met1516Lys)
c.4544T>A (p.Met1515Lys)
c.3491T>A (p.Met1164Lys)
c.4337T>A (p.Met1446Lys)
c.3857T>A (p.Met1286Lys)
 gnomAD v4
12g.47973469T>ACA384533197COL2A1c.4195A>T (p.Met1399Leu)
c.4402A>T (p.Met1468Leu)
n.3488A>T
c.4546A>T (p.Met1516Leu)
c.4543A>T (p.Met1515Leu)
c.3490A>T (p.Met1164Leu)
c.4336A>T (p.Met1446Leu)
c.3856A>T (p.Met1286Leu)
12g.47973469T>CCA384533198COL2A1c.4195A>G (p.Met1399Val)
c.4402A>G (p.Met1468Val)
n.3488A>G
c.4546A>G (p.Met1516Val)
c.4543A>G (p.Met1515Val)
c.3490A>G (p.Met1164Val)
c.4336A>G (p.Met1446Val)
c.3856A>G (p.Met1286Val)
 gnomAD v4
12g.47973469T>GCA384533199COL2A1c.4195A>C (p.Met1399Leu)
c.4402A>C (p.Met1468Leu)
n.3488A>C
c.4546A>C (p.Met1516Leu)
c.4543A>C (p.Met1515Leu)
c.3490A>C (p.Met1164Leu)
c.4336A>C (p.Met1446Leu)
c.3856A>C (p.Met1286Leu)
12g.47973470G>ACA6534464COL2A1c.4194C>T (p.Pro1398=)
c.4401C>T (p.Pro1467=)
n.3487C>T
c.4545C>T (p.Pro1515=)
c.4542C>T (p.Pro1514=)
c.3489C>T (p.Pro1163=)
c.4335C>T (p.Pro1445=)
c.3855C>T (p.Pro1285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973470G>CCA479449228COL2A1c.4194C>G (p.Pro1398=)
c.4401C>G (p.Pro1467=)
n.3487C>G
c.4545C>G (p.Pro1515=)
c.4542C>G (p.Pro1514=)
c.3489C>G (p.Pro1163=)
c.4335C>G (p.Pro1445=)
c.3855C>G (p.Pro1285=)
12g.47973470G=CA2034470679COL2A1c.4194C= (p.Pro1398=)
c.4401C= (p.Pro1467=)
n.3487C=
c.4545C= (p.Pro1515=)
c.4542C= (p.Pro1514=)
c.3489C= (p.Pro1163=)
c.4335C= (p.Pro1445=)
c.3855C= (p.Pro1285=)
12g.47973470G>TCA479449229COL2A1c.4194C>A (p.Pro1398=)
c.4401C>A (p.Pro1467=)
n.3487C>A
c.4545C>A (p.Pro1515=)
c.4542C>A (p.Pro1514=)
c.3489C>A (p.Pro1163=)
c.4335C>A (p.Pro1445=)
c.3855C>A (p.Pro1285=)
12g.47973471G>ACA384533200COL2A1c.4193C>T (p.Pro1398Leu)
c.4400C>T (p.Pro1467Leu)
n.3486C>T
c.4544C>T (p.Pro1515Leu)
c.4541C>T (p.Pro1514Leu)
c.3488C>T (p.Pro1163Leu)
c.4334C>T (p.Pro1445Leu)
c.3854C>T (p.Pro1285Leu)
 gnomAD v4
12g.47973471G>CCA384533201COL2A1c.4193C>G (p.Pro1398Arg)
c.4400C>G (p.Pro1467Arg)
n.3486C>G
c.4544C>G (p.Pro1515Arg)
c.4541C>G (p.Pro1514Arg)
c.3488C>G (p.Pro1163Arg)
c.4334C>G (p.Pro1445Arg)
c.3854C>G (p.Pro1285Arg)
12g.47973471G>TCA384533202COL2A1c.4193C>A (p.Pro1398His)
c.4400C>A (p.Pro1467His)
n.3486C>A
c.4544C>A (p.Pro1515His)
c.4541C>A (p.Pro1514His)
c.3488C>A (p.Pro1163His)
c.4334C>A (p.Pro1445His)
c.3854C>A (p.Pro1285His)
 ClinVar
12g.47973472G>ACA6534465COL2A1c.4192C>T (p.Pro1398Ser)
c.4399C>T (p.Pro1467Ser)
n.3485C>T
c.4543C>T (p.Pro1515Ser)
c.4540C>T (p.Pro1514Ser)
c.3487C>T (p.Pro1163Ser)
c.4333C>T (p.Pro1445Ser)
c.3853C>T (p.Pro1285Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47973472G>CCA384533203COL2A1c.4192C>G (p.Pro1398Ala)
c.4399C>G (p.Pro1467Ala)
n.3485C>G
c.4543C>G (p.Pro1515Ala)
c.4540C>G (p.Pro1514Ala)
c.3487C>G (p.Pro1163Ala)
c.4333C>G (p.Pro1445Ala)
c.3853C>G (p.Pro1285Ala)
12g.47973472G=CA2034470683COL2A1c.4192C= (p.Pro1398=)
c.4399C= (p.Pro1467=)
n.3485C=
c.4543C= (p.Pro1515=)
c.4540C= (p.Pro1514=)
c.3487C= (p.Pro1163=)
c.4333C= (p.Pro1445=)
c.3853C= (p.Pro1285=)
12g.47973472G>TCA384533204COL2A1c.4192C>A (p.Pro1398Thr)
c.4399C>A (p.Pro1467Thr)
n.3485C>A
c.4543C>A (p.Pro1515Thr)
c.4540C>A (p.Pro1514Thr)
c.3487C>A (p.Pro1163Thr)
c.4333C>A (p.Pro1445Thr)
c.3853C>A (p.Pro1285Thr)
12g.47973473T>ACA479449230COL2A1c.4191A>T (p.Ala1397=)
c.4398A>T (p.Ala1466=)
n.3484A>T
c.4542A>T (p.Ala1514=)
c.4539A>T (p.Ala1513=)
c.3486A>T (p.Ala1162=)
c.4332A>T (p.Ala1444=)
c.3852A>T (p.Ala1284=)
12g.47973473T>CCA479449231COL2A1c.4191A>G (p.Ala1397=)
c.4398A>G (p.Ala1466=)
n.3484A>G
c.4542A>G (p.Ala1514=)
c.4539A>G (p.Ala1513=)
c.3486A>G (p.Ala1162=)
c.4332A>G (p.Ala1444=)
c.3852A>G (p.Ala1284=)
12g.47973473T>GCA479449232COL2A1c.4191A>C (p.Ala1397=)
c.4398A>C (p.Ala1466=)
n.3484A>C
c.4542A>C (p.Ala1514=)
c.4539A>C (p.Ala1513=)
c.3486A>C (p.Ala1162=)
c.4332A>C (p.Ala1444=)
c.3852A>C (p.Ala1284=)
12g.47973474G>ACA384533205COL2A1c.4190C>T (p.Ala1397Val)
c.4397C>T (p.Ala1466Val)
n.3483C>T
c.4541C>T (p.Ala1514Val)
c.4538C>T (p.Ala1513Val)
c.3485C>T (p.Ala1162Val)
c.4331C>T (p.Ala1444Val)
c.3851C>T (p.Ala1284Val)
 ClinVar
12g.47973474G>CCA384533206COL2A1c.4190C>G (p.Ala1397Gly)
c.4397C>G (p.Ala1466Gly)
n.3483C>G
c.4541C>G (p.Ala1514Gly)
c.4538C>G (p.Ala1513Gly)
c.3485C>G (p.Ala1162Gly)
c.4331C>G (p.Ala1444Gly)
c.3851C>G (p.Ala1284Gly)
12g.47973474G=CA2034470686COL2A1c.4190C= (p.Ala1397=)
c.4397C= (p.Ala1466=)
n.3483C=
c.4541C= (p.Ala1514=)
c.4538C= (p.Ala1513=)
c.3485C= (p.Ala1162=)
c.4331C= (p.Ala1444=)
c.3851C= (p.Ala1284=)
12g.47973474G>TCA384533207COL2A1c.4190C>A (p.Ala1397Glu)
c.4397C>A (p.Ala1466Glu)
n.3483C>A
c.4541C>A (p.Ala1514Glu)
c.4538C>A (p.Ala1513Glu)
c.3485C>A (p.Ala1162Glu)
c.4331C>A (p.Ala1444Glu)
c.3851C>A (p.Ala1284Glu)
 ClinVar dbSNP
12g.47973474_47973475delinsAACA2697559207COL2A1c.4189_4190delinsTT (p.Ala1397Leu)
c.4396_4397delinsTT (p.Ala1466Leu)
n.3482_3483delinsTT
c.4540_4541delinsTT (p.Ala1514Leu)
c.4537_4538delinsTT (p.Ala1513Leu)
c.3484_3485delinsTT (p.Ala1162Leu)
c.4330_4331delinsTT (p.Ala1444Leu)
c.3850_3851delinsTT (p.Ala1284Leu)
 ClinVar
12g.47973475C>ACA384533208COL2A1c.4189G>T (p.Ala1397Ser)
c.4396G>T (p.Ala1466Ser)
n.3482G>T
c.4540G>T (p.Ala1514Ser)
c.4537G>T (p.Ala1513Ser)
c.3484G>T (p.Ala1162Ser)
c.4330G>T (p.Ala1444Ser)
c.3850G>T (p.Ala1284Ser)
12g.47973475C>GCA384533210COL2A1c.4189G>C (p.Ala1397Pro)
c.4396G>C (p.Ala1466Pro)
n.3482G>C
c.4540G>C (p.Ala1514Pro)
c.4537G>C (p.Ala1513Pro)
c.3484G>C (p.Ala1162Pro)
c.4330G>C (p.Ala1444Pro)
c.3850G>C (p.Ala1284Pro)
12g.47973475C>TCA384533209COL2A1c.4189G>A (p.Ala1397Thr)
c.4396G>A (p.Ala1466Thr)
n.3482G>A
c.4540G>A (p.Ala1514Thr)
c.4537G>A (p.Ala1513Thr)
c.3484G>A (p.Ala1162Thr)
c.4330G>A (p.Ala1444Thr)
c.3850G>A (p.Ala1284Thr)
12g.47973476A>CCA384533211COL2A1c.4188T>G (p.Ile1396Met)
c.4395T>G (p.Ile1465Met)
n.3481T>G
c.4539T>G (p.Ile1513Met)
c.4536T>G (p.Ile1512Met)
c.3483T>G (p.Ile1161Met)
c.4329T>G (p.Ile1443Met)
c.3849T>G (p.Ile1283Met)
12g.47973476A>GCA479449233COL2A1c.4188T>C (p.Ile1396=)
c.4395T>C (p.Ile1465=)
n.3481T>C
c.4539T>C (p.Ile1513=)
c.4536T>C (p.Ile1512=)
c.3483T>C (p.Ile1161=)
c.4329T>C (p.Ile1443=)
c.3849T>C (p.Ile1283=)
12g.47973476A>TCA479449234COL2A1c.4188T>A (p.Ile1396=)
c.4395T>A (p.Ile1465=)
n.3481T>A
c.4539T>A (p.Ile1513=)
c.4536T>A (p.Ile1512=)
c.3483T>A (p.Ile1161=)
c.4329T>A (p.Ile1443=)
c.3849T>A (p.Ile1283=)
12g.47973477A>CCA384533212COL2A1c.4187T>G (p.Ile1396Ser)
c.4394T>G (p.Ile1465Ser)
n.3480T>G
c.4538T>G (p.Ile1513Ser)
c.4535T>G (p.Ile1512Ser)
c.3482T>G (p.Ile1161Ser)
c.4328T>G (p.Ile1443Ser)
c.3848T>G (p.Ile1283Ser)
12g.47973477A>GCA384533213COL2A1c.4187T>C (p.Ile1396Thr)
c.4394T>C (p.Ile1465Thr)
n.3480T>C
c.4538T>C (p.Ile1513Thr)
c.4535T>C (p.Ile1512Thr)
c.3482T>C (p.Ile1161Thr)
c.4328T>C (p.Ile1443Thr)
c.3848T>C (p.Ile1283Thr)
12g.47973477A>TCA384533214COL2A1c.4187T>A (p.Ile1396Asn)
c.4394T>A (p.Ile1465Asn)
n.3480T>A
c.4538T>A (p.Ile1513Asn)
c.4535T>A (p.Ile1512Asn)
c.3482T>A (p.Ile1161Asn)
c.4328T>A (p.Ile1443Asn)
c.3848T>A (p.Ile1283Asn)
12g.47973478T>ACA384533215COL2A1c.4186A>T (p.Ile1396Phe)
c.4393A>T (p.Ile1465Phe)
n.3479A>T
c.4537A>T (p.Ile1513Phe)
c.4534A>T (p.Ile1512Phe)
c.3481A>T (p.Ile1161Phe)
c.4327A>T (p.Ile1443Phe)
c.3847A>T (p.Ile1283Phe)
12g.47973478T>CCA384533216COL2A1c.4186A>G (p.Ile1396Val)
c.4393A>G (p.Ile1465Val)
n.3479A>G
c.4537A>G (p.Ile1513Val)
c.4534A>G (p.Ile1512Val)
c.3481A>G (p.Ile1161Val)
c.4327A>G (p.Ile1443Val)
c.3847A>G (p.Ile1283Val)
12g.47973478T>GCA384533217COL2A1c.4186A>C (p.Ile1396Leu)
c.4393A>C (p.Ile1465Leu)
n.3479A>C
c.4537A>C (p.Ile1513Leu)
c.4534A>C (p.Ile1512Leu)
c.3481A>C (p.Ile1161Leu)
c.4327A>C (p.Ile1443Leu)
c.3847A>C (p.Ile1283Leu)
12g.47973479G>ACA479449235COL2A1c.4185C>T (p.Asp1395=)
c.4392C>T (p.Asp1464=)
n.3478C>T
c.4536C>T (p.Asp1512=)
c.4533C>T (p.Asp1511=)
c.3480C>T (p.Asp1160=)
c.4326C>T (p.Asp1442=)
c.3846C>T (p.Asp1282=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47973479G>CCA384533218COL2A1c.4185C>G (p.Asp1395Glu)
c.4392C>G (p.Asp1464Glu)
n.3478C>G
c.4536C>G (p.Asp1512Glu)
c.4533C>G (p.Asp1511Glu)
c.3480C>G (p.Asp1160Glu)
c.4326C>G (p.Asp1442Glu)
c.3846C>G (p.Asp1282Glu)
12g.47973479G=CA2034470689COL2A1c.4185C= (p.Asp1395=)
c.4392C= (p.Asp1464=)
n.3478C=
c.4536C= (p.Asp1512=)
c.4533C= (p.Asp1511=)
c.3480C= (p.Asp1160=)
c.4326C= (p.Asp1442=)
c.3846C= (p.Asp1282=)
12g.47973479G>TCA384533219COL2A1c.4185C>A (p.Asp1395Glu)
c.4392C>A (p.Asp1464Glu)
n.3478C>A
c.4536C>A (p.Asp1512Glu)
c.4533C>A (p.Asp1511Glu)
c.3480C>A (p.Asp1160Glu)
c.4326C>A (p.Asp1442Glu)
c.3846C>A (p.Asp1282Glu)
12g.47973480T>ACA384533222COL2A1c.4184A>T (p.Asp1395Val)
c.4391A>T (p.Asp1464Val)
n.3477A>T
c.4535A>T (p.Asp1512Val)
c.4532A>T (p.Asp1511Val)
c.3479A>T (p.Asp1160Val)
c.4325A>T (p.Asp1442Val)
c.3845A>T (p.Asp1282Val)
12g.47973480T>CCA384533221COL2A1c.4184A>G (p.Asp1395Gly)
c.4391A>G (p.Asp1464Gly)
n.3477A>G
c.4535A>G (p.Asp1512Gly)
c.4532A>G (p.Asp1511Gly)
c.3479A>G (p.Asp1160Gly)
c.4325A>G (p.Asp1442Gly)
c.3845A>G (p.Asp1282Gly)
12g.47973480T>GCA384533220COL2A1c.4184A>C (p.Asp1395Ala)
c.4391A>C (p.Asp1464Ala)
n.3477A>C
c.4535A>C (p.Asp1512Ala)
c.4532A>C (p.Asp1511Ala)
c.3479A>C (p.Asp1160Ala)
c.4325A>C (p.Asp1442Ala)
c.3845A>C (p.Asp1282Ala)
12g.47973481C>ACA384533223COL2A1c.4183G>T (p.Asp1395Tyr)
c.4390G>T (p.Asp1464Tyr)
n.3476G>T
c.4534G>T (p.Asp1512Tyr)
c.4531G>T (p.Asp1511Tyr)
c.3478G>T (p.Asp1160Tyr)
c.4324G>T (p.Asp1442Tyr)
c.3844G>T (p.Asp1282Tyr)
12g.47973481C>GCA384533224COL2A1c.4183G>C (p.Asp1395His)
c.4390G>C (p.Asp1464His)
n.3476G>C
c.4534G>C (p.Asp1512His)
c.4531G>C (p.Asp1511His)
c.3478G>C (p.Asp1160His)
c.4324G>C (p.Asp1442His)
c.3844G>C (p.Asp1282His)
12g.47973481C>TCA384533225COL2A1c.4183G>A (p.Asp1395Asn)
c.4390G>A (p.Asp1464Asn)
n.3476G>A
c.4534G>A (p.Asp1512Asn)
c.4531G>A (p.Asp1511Asn)
c.3478G>A (p.Asp1160Asn)
c.4324G>A (p.Asp1442Asn)
c.3844G>A (p.Asp1282Asn)
12g.47973481_47973484delinsCAATCA2034470691COL2A1c.4180_4183delinsATTG (p.Ile1394=)
c.4387_4390delinsATTG (p.Ile1463=)
n.3473_3476delinsATTG
c.4531_4534delinsATTG (p.Ile1511=)
c.4528_4531delinsATTG (p.Ile1510=)
c.3475_3478delinsATTG (p.Ile1159=)
c.4321_4324delinsATTG (p.Ile1441=)
c.3841_3844delinsATTG (p.Ile1281=)
12g.47973482A=CA2034470701COL2A1c.4182T= (p.Ile1394=)
c.4389T= (p.Ile1463=)
n.3475T=
c.4533T= (p.Ile1511=)
c.4530T= (p.Ile1510=)
c.3477T= (p.Ile1159=)
c.4323T= (p.Ile1441=)
c.3843T= (p.Ile1281=)
12g.47973482A>CCA384533226COL2A1c.4182T>G (p.Ile1394Met)
c.4389T>G (p.Ile1463Met)
n.3475T>G
c.4533T>G (p.Ile1511Met)
c.4530T>G (p.Ile1510Met)
c.3477T>G (p.Ile1159Met)
c.4323T>G (p.Ile1441Met)
c.3843T>G (p.Ile1281Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47973482A>GCA479449236COL2A1c.4182T>C (p.Ile1394=)
c.4389T>C (p.Ile1463=)
n.3475T>C
c.4533T>C (p.Ile1511=)
c.4530T>C (p.Ile1510=)
c.3477T>C (p.Ile1159=)
c.4323T>C (p.Ile1441=)
c.3843T>C (p.Ile1281=)
12g.47973482A>TCA479449237COL2A1c.4182T>A (p.Ile1394=)
c.4389T>A (p.Ile1463=)
n.3475T>A
c.4533T>A (p.Ile1511=)
c.4530T>A (p.Ile1510=)
c.3477T>A (p.Ile1159=)
c.4323T>A (p.Ile1441=)
c.3843T>A (p.Ile1281=)
12g.47973482_47973484delCA232867COL2A1c.4180_4182del (p.Ile1394del)
c.4387_4389del (p.Ile1463del)
n.3473_3475del
c.4531_4533del (p.Ile1511del)
c.4528_4530del (p.Ile1510del)
c.3475_3477del (p.Ile1159del)
c.4321_4323del (p.Ile1441del)
c.3841_3843del (p.Ile1281del)
 ClinVar dbSNP
12g.47973483A=CA2034470711COL2A1c.4181T= (p.Ile1394=)
c.4388T= (p.Ile1463=)
n.3474T=
c.4532T= (p.Ile1511=)
c.4529T= (p.Ile1510=)
c.3476T= (p.Ile1159=)
c.4322T= (p.Ile1441=)
c.3842T= (p.Ile1281=)
12g.47973483A>CCA384533227COL2A1c.4181T>G (p.Ile1394Ser)
c.4388T>G (p.Ile1463Ser)
n.3474T>G
c.4532T>G (p.Ile1511Ser)
c.4529T>G (p.Ile1510Ser)
c.3476T>G (p.Ile1159Ser)
c.4322T>G (p.Ile1441Ser)
c.3842T>G (p.Ile1281Ser)
12g.47973483A>GCA6534466COL2A1c.4181T>C (p.Ile1394Thr)
c.4388T>C (p.Ile1463Thr)
n.3474T>C
c.4532T>C (p.Ile1511Thr)
c.4529T>C (p.Ile1510Thr)
c.3476T>C (p.Ile1159Thr)
c.4322T>C (p.Ile1441Thr)
c.3842T>C (p.Ile1281Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.47973483A>TCA384533228COL2A1c.4181T>A (p.Ile1394Asn)
c.4388T>A (p.Ile1463Asn)
n.3474T>A
c.4532T>A (p.Ile1511Asn)
c.4529T>A (p.Ile1510Asn)
c.3476T>A (p.Ile1159Asn)
c.4322T>A (p.Ile1441Asn)
c.3842T>A (p.Ile1281Asn)
12g.47973484T>ACA384533229COL2A1c.4180A>T (p.Ile1394Phe)
c.4387A>T (p.Ile1463Phe)
n.3473A>T
c.4531A>T (p.Ile1511Phe)
c.4528A>T (p.Ile1510Phe)
c.3475A>T (p.Ile1159Phe)
c.4321A>T (p.Ile1441Phe)
c.3841A>T (p.Ile1281Phe)
12g.47973484T>CCA384533230COL2A1c.4180A>G (p.Ile1394Val)
c.4387A>G (p.Ile1463Val)
n.3473A>G
c.4531A>G (p.Ile1511Val)
c.4528A>G (p.Ile1510Val)
c.3475A>G (p.Ile1159Val)
c.4321A>G (p.Ile1441Val)
c.3841A>G (p.Ile1281Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.47973484T>GCA384533231COL2A1c.4180A>C (p.Ile1394Leu)
c.4387A>C (p.Ile1463Leu)
n.3473A>C
c.4531A>C (p.Ile1511Leu)
c.4528A>C (p.Ile1510Leu)
c.3475A>C (p.Ile1159Leu)
c.4321A>C (p.Ile1441Leu)
c.3841A>C (p.Ile1281Leu)
12g.47973484T=CA2034470717COL2A1c.4180A= (p.Ile1394=)
c.4387A= (p.Ile1463=)
n.3473A=
c.4531A= (p.Ile1511=)
c.4528A= (p.Ile1510=)
c.3475A= (p.Ile1159=)
c.4321A= (p.Ile1441=)
c.3841A= (p.Ile1281=)
12g.47973484_47973487dupCA2695216607COL2A1c.4177_4180dup (p.Ile1394AsnfsTer3)
c.4384_4387dup (p.Ile1463AsnfsTer3)
n.3470_3473dup
c.4528_4531dup (p.Ile1511AsnfsTer3)
c.4525_4528dup (p.Ile1510AsnfsTer3)
c.3472_3475dup (p.Ile1159AsnfsTer3)
c.4318_4321dup (p.Ile1441AsnfsTer3)
c.3838_3841dup (p.Ile1281AsnfsTer3)
12g.47973485G>ACA479449239COL2A1c.4179C>T (p.Ile1393=)
c.4386C>T (p.Ile1462=)
n.3472C>T
c.4530C>T (p.Ile1510=)
c.4527C>T (p.Ile1509=)
c.3474C>T (p.Ile1158=)
c.4320C>T (p.Ile1440=)
c.3840C>T (p.Ile1280=)
12g.47973485G>CCA384533232COL2A1c.4179C>G (p.Ile1393Met)
c.4386C>G (p.Ile1462Met)
n.3472C>G
c.4530C>G (p.Ile1510Met)
c.4527C>G (p.Ile1509Met)
c.3474C>G (p.Ile1158Met)
c.4320C>G (p.Ile1440Met)
c.3840C>G (p.Ile1280Met)
 ClinVar gnomAD v4
12g.47973485G>TCA479449238COL2A1c.4179C>A (p.Ile1393=)
c.4386C>A (p.Ile1462=)
n.3472C>A
c.4530C>A (p.Ile1510=)
c.4527C>A (p.Ile1509=)
c.3474C>A (p.Ile1158=)
c.4320C>A (p.Ile1440=)
c.3840C>A (p.Ile1280=)
12g.47973486A>CCA384533235COL2A1c.4178T>G (p.Ile1393Ser)
c.4385T>G (p.Ile1462Ser)
n.3471T>G
c.4529T>G (p.Ile1510Ser)
c.4526T>G (p.Ile1509Ser)
c.3473T>G (p.Ile1158Ser)
c.4319T>G (p.Ile1440Ser)
c.3839T>G (p.Ile1280Ser)
12g.47973486A>GCA384533234COL2A1c.4178T>C (p.Ile1393Thr)
c.4385T>C (p.Ile1462Thr)
n.3471T>C
c.4529T>C (p.Ile1510Thr)
c.4526T>C (p.Ile1509Thr)
c.3473T>C (p.Ile1158Thr)
c.4319T>C (p.Ile1440Thr)
c.3839T>C (p.Ile1280Thr)
12g.47973486A>TCA384533233COL2A1c.4178T>A (p.Ile1393Asn)
c.4385T>A (p.Ile1462Asn)
n.3471T>A
c.4529T>A (p.Ile1510Asn)
c.4526T>A (p.Ile1509Asn)
c.3473T>A (p.Ile1158Asn)
c.4319T>A (p.Ile1440Asn)
c.3839T>A (p.Ile1280Asn)
12g.47973487T>ACA384533236COL2A1c.4177A>T (p.Ile1393Phe)
c.4384A>T (p.Ile1462Phe)
n.3470A>T
c.4528A>T (p.Ile1510Phe)
c.4525A>T (p.Ile1509Phe)
c.3472A>T (p.Ile1158Phe)
c.4318A>T (p.Ile1440Phe)
c.3838A>T (p.Ile1280Phe)
12g.47973487T>CCA384533237COL2A1c.4177A>G (p.Ile1393Val)
c.4384A>G (p.Ile1462Val)
n.3470A>G
c.4528A>G (p.Ile1510Val)
c.4525A>G (p.Ile1509Val)
c.3472A>G (p.Ile1158Val)
c.4318A>G (p.Ile1440Val)
c.3838A>G (p.Ile1280Val)
12g.47973487T>GCA384533238COL2A1c.4177A>C (p.Ile1393Leu)
c.4384A>C (p.Ile1462Leu)
n.3470A>C
c.4528A>C (p.Ile1510Leu)
c.4525A>C (p.Ile1509Leu)
c.3472A>C (p.Ile1158Leu)
c.4318A>C (p.Ile1440Leu)
c.3838A>C (p.Ile1280Leu)
12g.47973488G>ACA479449240COL2A1c.4176C>T (p.Pro1392=)
c.4383C>T (p.Pro1461=)
n.3469C>T
c.4527C>T (p.Pro1509=)
c.4524C>T (p.Pro1508=)
c.3471C>T (p.Pro1157=)
c.4317C>T (p.Pro1439=)
c.3837C>T (p.Pro1279=)
12g.47973488G>CCA479449241COL2A1c.4176C>G (p.Pro1392=)
c.4383C>G (p.Pro1461=)
n.3469C>G
c.4527C>G (p.Pro1509=)
c.4524C>G (p.Pro1508=)
c.3471C>G (p.Pro1157=)
c.4317C>G (p.Pro1439=)
c.3837C>G (p.Pro1279=)
12g.47973488G>TCA479449242COL2A1c.4176C>A (p.Pro1392=)
c.4383C>A (p.Pro1461=)
n.3469C>A
c.4527C>A (p.Pro1509=)
c.4524C>A (p.Pro1508=)
c.3471C>A (p.Pro1157=)
c.4317C>A (p.Pro1439=)
c.3837C>A (p.Pro1279=)
12g.47973489G>ACA384533239COL2A1c.4175C>T (p.Pro1392Leu)
c.4382C>T (p.Pro1461Leu)
n.3468C>T
c.4526C>T (p.Pro1509Leu)
c.4523C>T (p.Pro1508Leu)
c.3470C>T (p.Pro1157Leu)
c.4316C>T (p.Pro1439Leu)
c.3836C>T (p.Pro1279Leu)
12g.47973489G>CCA384533240COL2A1c.4175C>G (p.Pro1392Arg)
c.4382C>G (p.Pro1461Arg)
n.3468C>G
c.4526C>G (p.Pro1509Arg)
c.4523C>G (p.Pro1508Arg)
c.3470C>G (p.Pro1157Arg)
c.4316C>G (p.Pro1439Arg)
c.3836C>G (p.Pro1279Arg)
12g.47973489G>TCA384533241COL2A1c.4175C>A (p.Pro1392His)
c.4382C>A (p.Pro1461His)
n.3468C>A
c.4526C>A (p.Pro1509His)
c.4523C>A (p.Pro1508His)
c.3470C>A (p.Pro1157His)
c.4316C>A (p.Pro1439His)
c.3836C>A (p.Pro1279His)
12g.47973490G>ACA384533242COL2A1c.4174C>T (p.Pro1392Ser)
c.4381C>T (p.Pro1461Ser)
n.3467C>T
c.4525C>T (p.Pro1509Ser)
c.4522C>T (p.Pro1508Ser)
c.3469C>T (p.Pro1157Ser)
c.4315C>T (p.Pro1439Ser)
c.3835C>T (p.Pro1279Ser)
12g.47973490G>CCA384533243COL2A1c.4174C>G (p.Pro1392Ala)
c.4381C>G (p.Pro1461Ala)
n.3467C>G
c.4525C>G (p.Pro1509Ala)
c.4522C>G (p.Pro1508Ala)
c.3469C>G (p.Pro1157Ala)
c.4315C>G (p.Pro1439Ala)
c.3835C>G (p.Pro1279Ala)
12g.47973490G>TCA384533244COL2A1c.4174C>A (p.Pro1392Thr)
c.4381C>A (p.Pro1461Thr)
n.3467C>A
c.4525C>A (p.Pro1509Thr)
c.4522C>A (p.Pro1508Thr)
c.3469C>A (p.Pro1157Thr)
c.4315C>A (p.Pro1439Thr)
c.3835C>A (p.Pro1279Thr)
12g.47973491G>ACA479449243COL2A1c.4173C>T (p.Leu1391=)
c.4380C>T (p.Leu1460=)
n.3466C>T
c.4524C>T (p.Leu1508=)
c.4521C>T (p.Leu1507=)
c.3468C>T (p.Leu1156=)
c.4314C>T (p.Leu1438=)
c.3834C>T (p.Leu1278=)
 ClinVar gnomAD v4
12g.47973491G>CCA6534467COL2A1c.4173C>G (p.Leu1391=)
c.4380C>G (p.Leu1460=)
n.3466C>G
c.4524C>G (p.Leu1508=)
c.4521C>G (p.Leu1507=)
c.3468C>G (p.Leu1156=)
c.4314C>G (p.Leu1438=)
c.3834C>G (p.Leu1278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973491G=CA2034470721COL2A1c.4173C= (p.Leu1391=)
c.4380C= (p.Leu1460=)
n.3466C=
c.4524C= (p.Leu1508=)
c.4521C= (p.Leu1507=)
c.3468C= (p.Leu1156=)
c.4314C= (p.Leu1438=)
c.3834C= (p.Leu1278=)
12g.47973491G>TCA479449244COL2A1c.4173C>A (p.Leu1391=)
c.4380C>A (p.Leu1460=)
n.3466C>A
c.4524C>A (p.Leu1508=)
c.4521C>A (p.Leu1507=)
c.3468C>A (p.Leu1156=)
c.4314C>A (p.Leu1438=)
c.3834C>A (p.Leu1278=)
12g.47973492A>CCA384533245COL2A1c.4172T>G (p.Leu1391Arg)
c.4379T>G (p.Leu1460Arg)
n.3465T>G
c.4523T>G (p.Leu1508Arg)
c.4520T>G (p.Leu1507Arg)
c.3467T>G (p.Leu1156Arg)
c.4313T>G (p.Leu1438Arg)
c.3833T>G (p.Leu1278Arg)
12g.47973492A>GCA384533246COL2A1c.4172T>C (p.Leu1391Pro)
c.4379T>C (p.Leu1460Pro)
n.3465T>C
c.4523T>C (p.Leu1508Pro)
c.4520T>C (p.Leu1507Pro)
c.3467T>C (p.Leu1156Pro)
c.4313T>C (p.Leu1438Pro)
c.3833T>C (p.Leu1278Pro)
12g.47973492A>TCA384533247COL2A1c.4172T>A (p.Leu1391His)
c.4379T>A (p.Leu1460His)
n.3465T>A
c.4523T>A (p.Leu1508His)
c.4520T>A (p.Leu1507His)
c.3467T>A (p.Leu1156His)
c.4313T>A (p.Leu1438His)
c.3833T>A (p.Leu1278His)
12g.47973493G>ACA384533249COL2A1c.4171C>T (p.Leu1391Phe)
c.4378C>T (p.Leu1460Phe)
n.3464C>T
c.4522C>T (p.Leu1508Phe)
c.4519C>T (p.Leu1507Phe)
c.3466C>T (p.Leu1156Phe)
c.4312C>T (p.Leu1438Phe)
c.3832C>T (p.Leu1278Phe)
 ClinVar gnomAD v4
12g.47973493G>CCA384533250COL2A1c.4171C>G (p.Leu1391Val)
c.4378C>G (p.Leu1460Val)
n.3464C>G
c.4522C>G (p.Leu1508Val)
c.4519C>G (p.Leu1507Val)
c.3466C>G (p.Leu1156Val)
c.4312C>G (p.Leu1438Val)
c.3832C>G (p.Leu1278Val)
12g.47973493G>TCA384533248COL2A1c.4171C>A (p.Leu1391Ile)
c.4378C>A (p.Leu1460Ile)
n.3464C>A
c.4522C>A (p.Leu1508Ile)
c.4519C>A (p.Leu1507Ile)
c.3466C>A (p.Leu1156Ile)
c.4312C>A (p.Leu1438Ile)
c.3832C>A (p.Leu1278Ile)
12g.47973494G>ACA479449245COL2A1c.4170C>T (p.Arg1390=)
c.4377C>T (p.Arg1459=)
n.3463C>T
c.4521C>T (p.Arg1507=)
c.4518C>T (p.Arg1506=)
c.3465C>T (p.Arg1155=)
c.4311C>T (p.Arg1437=)
c.3831C>T (p.Arg1277=)
12g.47973494G>CCA479449246COL2A1c.4170C>G (p.Arg1390=)
c.4377C>G (p.Arg1459=)
n.3463C>G
c.4521C>G (p.Arg1507=)
c.4518C>G (p.Arg1506=)
c.3465C>G (p.Arg1155=)
c.4311C>G (p.Arg1437=)
c.3831C>G (p.Arg1277=)
12g.47973494G>TCA479449247COL2A1c.4170C>A (p.Arg1390=)
c.4377C>A (p.Arg1459=)
n.3463C>A
c.4521C>A (p.Arg1507=)
c.4518C>A (p.Arg1506=)
c.3465C>A (p.Arg1155=)
c.4311C>A (p.Arg1437=)
c.3831C>A (p.Arg1277=)
12g.47973495C>ACA384533252COL2A1c.4169G>T (p.Arg1390Leu)
c.4376G>T (p.Arg1459Leu)
n.3462G>T
c.4520G>T (p.Arg1507Leu)
c.4517G>T (p.Arg1506Leu)
c.3464G>T (p.Arg1155Leu)
c.4310G>T (p.Arg1437Leu)
c.3830G>T (p.Arg1277Leu)
12g.47973495C=CA2034470724COL2A1c.4169G= (p.Arg1390=)
c.4376G= (p.Arg1459=)
n.3462G=
c.4520G= (p.Arg1507=)
c.4517G= (p.Arg1506=)
c.3464G= (p.Arg1155=)
c.4310G= (p.Arg1437=)
c.3830G= (p.Arg1277=)
12g.47973495C>GCA384533251COL2A1c.4169G>C (p.Arg1390Pro)
c.4376G>C (p.Arg1459Pro)
n.3462G>C
c.4520G>C (p.Arg1507Pro)
c.4517G>C (p.Arg1506Pro)
c.3464G>C (p.Arg1155Pro)
c.4310G>C (p.Arg1437Pro)
c.3830G>C (p.Arg1277Pro)
12g.47973495C>TCA6534468COL2A1c.4169G>A (p.Arg1390His)
c.4376G>A (p.Arg1459His)
n.3462G>A
c.4520G>A (p.Arg1507His)
c.4517G>A (p.Arg1506His)
c.3464G>A (p.Arg1155His)
c.4310G>A (p.Arg1437His)
c.3830G>A (p.Arg1277His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973496G>ACA6534469COL2A1c.4168C>T (p.Arg1390Cys)
c.4375C>T (p.Arg1459Cys)
n.3461C>T
c.4519C>T (p.Arg1507Cys)
c.4516C>T (p.Arg1506Cys)
c.3463C>T (p.Arg1155Cys)
c.4309C>T (p.Arg1437Cys)
c.3829C>T (p.Arg1277Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47973496G>CCA384533254COL2A1c.4168C>G (p.Arg1390Gly)
c.4375C>G (p.Arg1459Gly)
n.3461C>G
c.4519C>G (p.Arg1507Gly)
c.4516C>G (p.Arg1506Gly)
c.3463C>G (p.Arg1155Gly)
c.4309C>G (p.Arg1437Gly)
c.3829C>G (p.Arg1277Gly)
12g.47973496G=CA2034470729COL2A1c.4168C= (p.Arg1390=)
c.4375C= (p.Arg1459=)
n.3461C=
c.4519C= (p.Arg1507=)
c.4516C= (p.Arg1506=)
c.3463C= (p.Arg1155=)
c.4309C= (p.Arg1437=)
c.3829C= (p.Arg1277=)
12g.47973496G>TCA384533253COL2A1c.4168C>A (p.Arg1390Ser)
c.4375C>A (p.Arg1459Ser)
n.3461C>A
c.4519C>A (p.Arg1507Ser)
c.4516C>A (p.Arg1506Ser)
c.3463C>A (p.Arg1155Ser)
c.4309C>A (p.Arg1437Ser)
c.3829C>A (p.Arg1277Ser)
12g.47973497T>ACA479449250COL2A1c.4167A>T (p.Ser1389=)
c.4374A>T (p.Ser1458=)
n.3460A>T
c.4518A>T (p.Ser1506=)
c.4515A>T (p.Ser1505=)
c.3462A>T (p.Ser1154=)
c.4308A>T (p.Ser1436=)
c.3828A>T (p.Ser1276=)
12g.47973497T>CCA479449248COL2A1c.4167A>G (p.Ser1389=)
c.4374A>G (p.Ser1458=)
n.3460A>G
c.4518A>G (p.Ser1506=)
c.4515A>G (p.Ser1505=)
c.3462A>G (p.Ser1154=)
c.4308A>G (p.Ser1436=)
c.3828A>G (p.Ser1276=)
12g.47973497T>GCA479449249COL2A1c.4167A>C (p.Ser1389=)
c.4374A>C (p.Ser1458=)
n.3460A>C
c.4518A>C (p.Ser1506=)
c.4515A>C (p.Ser1505=)
c.3462A>C (p.Ser1154=)
c.4308A>C (p.Ser1436=)
c.3828A>C (p.Ser1276=)
 gnomAD v4
12g.47973498G>ACA384533255COL2A1c.4166C>T (p.Ser1389Leu)
c.4373C>T (p.Ser1458Leu)
n.3459C>T
c.4517C>T (p.Ser1506Leu)
c.4514C>T (p.Ser1505Leu)
c.3461C>T (p.Ser1154Leu)
c.4307C>T (p.Ser1436Leu)
c.3827C>T (p.Ser1276Leu)
12g.47973498G>CCA384533257COL2A1c.4166C>G (p.Ser1389Ter)
c.4373C>G (p.Ser1458Ter)
n.3459C>G
c.4517C>G (p.Ser1506Ter)
c.4514C>G (p.Ser1505Ter)
c.3461C>G (p.Ser1154Ter)
c.4307C>G (p.Ser1436Ter)
c.3827C>G (p.Ser1276Ter)
12g.47973498G>TCA384533256COL2A1c.4166C>A (p.Ser1389Ter)
c.4373C>A (p.Ser1458Ter)
n.3459C>A
c.4517C>A (p.Ser1506Ter)
c.4514C>A (p.Ser1505Ter)
c.3461C>A (p.Ser1154Ter)
c.4307C>A (p.Ser1436Ter)
c.3827C>A (p.Ser1276Ter)
12g.47973499A>CCA384533258COL2A1c.4165T>G (p.Ser1389Ala)
c.4372T>G (p.Ser1458Ala)
n.3458T>G
c.4516T>G (p.Ser1506Ala)
c.4513T>G (p.Ser1505Ala)
c.3460T>G (p.Ser1154Ala)
c.4306T>G (p.Ser1436Ala)
c.3826T>G (p.Ser1276Ala)
12g.47973499A>GCA384533260COL2A1c.4165T>C (p.Ser1389Pro)
c.4372T>C (p.Ser1458Pro)
n.3458T>C
c.4516T>C (p.Ser1506Pro)
c.4513T>C (p.Ser1505Pro)
c.3460T>C (p.Ser1154Pro)
c.4306T>C (p.Ser1436Pro)
c.3826T>C (p.Ser1276Pro)
12g.47973499A>TCA384533259COL2A1c.4165T>A (p.Ser1389Thr)
c.4372T>A (p.Ser1458Thr)
n.3458T>A
c.4516T>A (p.Ser1506Thr)
c.4513T>A (p.Ser1505Thr)
c.3460T>A (p.Ser1154Thr)
c.4306T>A (p.Ser1436Thr)
c.3826T>A (p.Ser1276Thr)
12g.47973500G>ACA479449251COL2A1c.4164C>T (p.Thr1388=)
c.4371C>T (p.Thr1457=)
n.3457C>T
c.4515C>T (p.Thr1505=)
c.4512C>T (p.Thr1504=)
c.3459C>T (p.Thr1153=)
c.4305C>T (p.Thr1435=)
c.3825C>T (p.Thr1275=)
12g.47973500G>CCA479449252COL2A1c.4164C>G (p.Thr1388=)
c.4371C>G (p.Thr1457=)
n.3457C>G
c.4515C>G (p.Thr1505=)
c.4512C>G (p.Thr1504=)
c.3459C>G (p.Thr1153=)
c.4305C>G (p.Thr1435=)
c.3825C>G (p.Thr1275=)
12g.47973500G=CA2034470736COL2A1c.4164C= (p.Thr1388=)
c.4371C= (p.Thr1457=)
n.3457C=
c.4515C= (p.Thr1505=)
c.4512C= (p.Thr1504=)
c.3459C= (p.Thr1153=)
c.4305C= (p.Thr1435=)
c.3825C= (p.Thr1275=)
12g.47973500G>TCA479449253COL2A1c.4164C>A (p.Thr1388=)
c.4371C>A (p.Thr1457=)
n.3457C>A
c.4515C>A (p.Thr1505=)
c.4512C>A (p.Thr1504=)
c.3459C>A (p.Thr1153=)
c.4305C>A (p.Thr1435=)
c.3825C>A (p.Thr1275=)
 dbSNP gnomAD v2 gnomAD v4
12g.47973501G>ACA384533261COL2A1c.4163C>T (p.Thr1388Ile)
c.4370C>T (p.Thr1457Ile)
n.3456C>T
c.4514C>T (p.Thr1505Ile)
c.4511C>T (p.Thr1504Ile)
c.3458C>T (p.Thr1153Ile)
c.4304C>T (p.Thr1435Ile)
c.3824C>T (p.Thr1275Ile)
12g.47973501G>CCA384533262COL2A1c.4163C>G (p.Thr1388Ser)
c.4370C>G (p.Thr1457Ser)
n.3456C>G
c.4514C>G (p.Thr1505Ser)
c.4511C>G (p.Thr1504Ser)
c.3458C>G (p.Thr1153Ser)
c.4304C>G (p.Thr1435Ser)
c.3824C>G (p.Thr1275Ser)
 ClinVar
12g.47973501G>TCA384533263COL2A1c.4163C>A (p.Thr1388Asn)
c.4370C>A (p.Thr1457Asn)
n.3456C>A
c.4514C>A (p.Thr1505Asn)
c.4511C>A (p.Thr1504Asn)
c.3458C>A (p.Thr1153Asn)
c.4304C>A (p.Thr1435Asn)
c.3824C>A (p.Thr1275Asn)
12g.47973502T>ACA384533264COL2A1c.4162A>T (p.Thr1388Ser)
c.4369A>T (p.Thr1457Ser)
n.3455A>T
c.4513A>T (p.Thr1505Ser)
c.4510A>T (p.Thr1504Ser)
c.3457A>T (p.Thr1153Ser)
c.4303A>T (p.Thr1435Ser)
c.3823A>T (p.Thr1275Ser)
12g.47973502T>CCA384533265COL2A1c.4162A>G (p.Thr1388Ala)
c.4369A>G (p.Thr1457Ala)
n.3455A>G
c.4513A>G (p.Thr1505Ala)
c.4510A>G (p.Thr1504Ala)
c.3457A>G (p.Thr1153Ala)
c.4303A>G (p.Thr1435Ala)
c.3823A>G (p.Thr1275Ala)
12g.47973502T>GCA384533266COL2A1c.4162A>C (p.Thr1388Pro)
c.4369A>C (p.Thr1457Pro)
n.3455A>C
c.4513A>C (p.Thr1505Pro)
c.4510A>C (p.Thr1504Pro)
c.3457A>C (p.Thr1153Pro)
c.4303A>C (p.Thr1435Pro)
c.3823A>C (p.Thr1275Pro)
12g.47973503C>ACA384533267COL2A1c.4161G>T (p.Lys1387Asn)
c.4368G>T (p.Lys1456Asn)
n.3454G>T
c.4512G>T (p.Lys1504Asn)
c.4509G>T (p.Lys1503Asn)
c.3456G>T (p.Lys1152Asn)
c.4302G>T (p.Lys1434Asn)
c.3822G>T (p.Lys1274Asn)
12g.47973503C>GCA384533268COL2A1c.4161G>C (p.Lys1387Asn)
c.4368G>C (p.Lys1456Asn)
n.3454G>C
c.4512G>C (p.Lys1504Asn)
c.4509G>C (p.Lys1503Asn)
c.3456G>C (p.Lys1152Asn)
c.4302G>C (p.Lys1434Asn)
c.3822G>C (p.Lys1274Asn)
12g.47973503C>TCA479449254COL2A1c.4161G>A (p.Lys1387=)
c.4368G>A (p.Lys1456=)
n.3454G>A
c.4512G>A (p.Lys1504=)
c.4509G>A (p.Lys1503=)
c.3456G>A (p.Lys1152=)
c.4302G>A (p.Lys1434=)
c.3822G>A (p.Lys1274=)
12g.47973504T>ACA384533269COL2A1c.4160A>T (p.Lys1387Met)
c.4367A>T (p.Lys1456Met)
n.3453A>T
c.4511A>T (p.Lys1504Met)
c.4508A>T (p.Lys1503Met)
c.3455A>T (p.Lys1152Met)
c.4301A>T (p.Lys1434Met)
c.3821A>T (p.Lys1274Met)
12g.47973504T>CCA384533270COL2A1c.4160A>G (p.Lys1387Arg)
c.4367A>G (p.Lys1456Arg)
n.3453A>G
c.4511A>G (p.Lys1504Arg)
c.4508A>G (p.Lys1503Arg)
c.3455A>G (p.Lys1152Arg)
c.4301A>G (p.Lys1434Arg)
c.3821A>G (p.Lys1274Arg)
12g.47973504T>GCA384533271COL2A1c.4160A>C (p.Lys1387Thr)
c.4367A>C (p.Lys1456Thr)
n.3453A>C
c.4511A>C (p.Lys1504Thr)
c.4508A>C (p.Lys1503Thr)
c.3455A>C (p.Lys1152Thr)
c.4301A>C (p.Lys1434Thr)
c.3821A>C (p.Lys1274Thr)
12g.47973505T>ACA384533274COL2A1c.4159A>T (p.Lys1387Ter)
c.4366A>T (p.Lys1456Ter)
n.3452A>T
c.4510A>T (p.Lys1504Ter)
c.4507A>T (p.Lys1503Ter)
c.3454A>T (p.Lys1152Ter)
c.4300A>T (p.Lys1434Ter)
c.3820A>T (p.Lys1274Ter)
12g.47973505T>CCA384533272COL2A1c.4159A>G (p.Lys1387Glu)
c.4366A>G (p.Lys1456Glu)
n.3452A>G
c.4510A>G (p.Lys1504Glu)
c.4507A>G (p.Lys1503Glu)
c.3454A>G (p.Lys1152Glu)
c.4300A>G (p.Lys1434Glu)
c.3820A>G (p.Lys1274Glu)
12g.47973505T>GCA384533273COL2A1c.4159A>C (p.Lys1387Gln)
c.4366A>C (p.Lys1456Gln)
n.3452A>C
c.4510A>C (p.Lys1504Gln)
c.4507A>C (p.Lys1503Gln)
c.3454A>C (p.Lys1152Gln)
c.4300A>C (p.Lys1434Gln)
c.3820A>C (p.Lys1274Gln)
12g.47973506C>ACA384533275COL2A1c.4158G>T (p.Gln1386His)
c.4365G>T (p.Gln1455His)
n.3451G>T
c.4509G>T (p.Gln1503His)
c.4506G>T (p.Gln1502His)
c.3453G>T (p.Gln1151His)
c.4299G>T (p.Gln1433His)
c.3819G>T (p.Gln1273His)
12g.47973506C>GCA384533276COL2A1c.4158G>C (p.Gln1386His)
c.4365G>C (p.Gln1455His)
n.3451G>C
c.4509G>C (p.Gln1503His)
c.4506G>C (p.Gln1502His)
c.3453G>C (p.Gln1151His)
c.4299G>C (p.Gln1433His)
c.3819G>C (p.Gln1273His)
12g.47973506C>TCA479449255COL2A1c.4158G>A (p.Gln1386=)
c.4365G>A (p.Gln1455=)
n.3451G>A
c.4509G>A (p.Gln1503=)
c.4506G>A (p.Gln1502=)
c.3453G>A (p.Gln1151=)
c.4299G>A (p.Gln1433=)
c.3819G>A (p.Gln1273=)
 gnomAD v4
12g.47973507T>ACA384533277COL2A1c.4157A>T (p.Gln1386Leu)
c.4364A>T (p.Gln1455Leu)
n.3450A>T
c.4508A>T (p.Gln1503Leu)
c.4505A>T (p.Gln1502Leu)
c.3452A>T (p.Gln1151Leu)
c.4298A>T (p.Gln1433Leu)
c.3818A>T (p.Gln1273Leu)
12g.47973507T>CCA236515561COL2A1c.4157A>G (p.Gln1386Arg)
c.4364A>G (p.Gln1455Arg)
n.3450A>G
c.4508A>G (p.Gln1503Arg)
c.4505A>G (p.Gln1502Arg)
c.3452A>G (p.Gln1151Arg)
c.4298A>G (p.Gln1433Arg)
c.3818A>G (p.Gln1273Arg)
 dbSNP
12g.47973507T>GCA384533278COL2A1c.4157A>C (p.Gln1386Pro)
c.4364A>C (p.Gln1455Pro)
n.3450A>C
c.4508A>C (p.Gln1503Pro)
c.4505A>C (p.Gln1502Pro)
c.3452A>C (p.Gln1151Pro)
c.4298A>C (p.Gln1433Pro)
c.3818A>C (p.Gln1273Pro)
 gnomAD v4
12g.47973507T=CA2034470741COL2A1c.4157A= (p.Gln1386=)
c.4364A= (p.Gln1455=)
n.3450A=
c.4508A= (p.Gln1503=)
c.4505A= (p.Gln1502=)
c.3452A= (p.Gln1151=)
c.4298A= (p.Gln1433=)
c.3818A= (p.Gln1273=)
12g.47973508G>ACA384533279COL2A1c.4156C>T (p.Gln1386Ter)
c.4363C>T (p.Gln1455Ter)
n.3449C>T
c.4507C>T (p.Gln1503Ter)
c.4504C>T (p.Gln1502Ter)
c.3451C>T (p.Gln1151Ter)
c.4297C>T (p.Gln1433Ter)
c.3817C>T (p.Gln1273Ter)
 ClinVar dbSNP
12g.47973508G>CCA384533280COL2A1c.4156C>G (p.Gln1386Glu)
c.4363C>G (p.Gln1455Glu)
n.3449C>G
c.4507C>G (p.Gln1503Glu)
c.4504C>G (p.Gln1502Glu)
c.3451C>G (p.Gln1151Glu)
c.4297C>G (p.Gln1433Glu)
c.3817C>G (p.Gln1273Glu)
12g.47973508G=CA2034470746COL2A1c.4156C= (p.Gln1386=)
c.4363C= (p.Gln1455=)
n.3449C=
c.4507C= (p.Gln1503=)
c.4504C= (p.Gln1502=)
c.3451C= (p.Gln1151=)
c.4297C= (p.Gln1433=)
c.3817C= (p.Gln1273=)
12g.47973508G>TCA384533281COL2A1c.4156C>A (p.Gln1386Lys)
c.4363C>A (p.Gln1455Lys)
n.3449C>A
c.4507C>A (p.Gln1503Lys)
c.4504C>A (p.Gln1502Lys)
c.3451C>A (p.Gln1151Lys)
c.4297C>A (p.Gln1433Lys)
c.3817C>A (p.Gln1273Lys)

Number of alleles fetched